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 SNIP1 79753 broad.mit.edu 37 1 38003598 38003598 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:38003598G>A ENST00000296215.6 - 4 1014 c.942C>T c.(940-942)acC>acT p.T314T NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 314 FHA. production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) CATCAGCACGGGTATATTCCA 0.458000 14 21 0 0 1 0 0 CA2 760 broad.mit.edu 37 8 86393018 86393018 + Silent SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:86393018A>G ENST00000285379.5 + 7 1013 c.783A>G c.(781-783)taA>taG p.*261* NM_000067.2 NP_000058.1 P00918 CAH2_HUMAN carbonic anhydrase II 0 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CCTTCAAATAAGATGGTCCCA 0.463000 10 23 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94645372 94645372 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:94645372T>C ENST00000260526.6 - 20 2571 c.2389A>G c.(2389-2391)Aac>Gac p.N797D ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 797 Rho-GAP. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) AGAATTCGGTTTATTTCTATA 0.313000 22 49 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432652 117432652 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:117432652C>T ENST00000160373.3 - 4 689 c.598G>A c.(598-600)Gaa>Aaa p.E200K CTTNBP2_ENST00000487820.1_5'UTR NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 200 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TTTTCCTCTTCCAGTTTGGCC 0.468000 19 38 0 0 1 0 0 UBE4A 9354 broad.mit.edu 37 11 118257192 118257192 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:118257192C>T ENST00000252108.3 + 16 2583 c.2452C>T c.(2452-2454)Cga>Tga p.R818* UBE4A_ENST00000545354.1_Nonsense_Mutation_p.R290*|UBE4A_ENST00000431736.2_Nonsense_Mutation_p.R825* NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 818 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TGAGAAGGATCGAGGTGAATG 0.463000 23 39 0 0 1 0 0 TTI2 80185 broad.mit.edu 37 8 33367357 33367357 + Silent SNP C C T rs143175380 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:33367357C>T ENST00000431156.2 - 3 1359 c.741G>A c.(739-741)agG>agA p.R247R TTI2_ENST00000520636.1_Silent_p.R247R|TTI2_ENST00000360742.5_Silent_p.R247R NM_001102401.2 NP_001095871.1 Q6NXR4 CH041_HUMAN TELO2 interacting protein 2 247 binding CGGGAAGTACCCTTTCCAGAT 0.473000 15 19 0 0 1 0 0 TRBV10-1 28585 broad.mit.edu 37 7 142231586 142231586 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:142231586C>T ENST00000390364.3 - 0 398 TCACTGCTGGCGCAGAAATAT 0.537000 36 54 0 0 1 0 0 IL17RD 54756 broad.mit.edu 37 3 57135231 57135231 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:57135231G>A ENST00000296318.7 - 11 1228 c.1140C>T c.(1138-1140)ttC>ttT p.F380F IL17RD_ENST00000463523.1_Silent_p.F236F|IL17RD_ENST00000427856.2_Silent_p.F356F|IL17RD_ENST00000320057.5_Silent_p.F236F NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D 380 SEFIR. Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) AGTCCTGGAGGAAGTAGGCGA 0.557000 7 12 0 0 1 0 0 RCC1 1104 broad.mit.edu 37 1 28864371 28864371 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:28864371C>T ENST00000373833.6 + 13 1403 c.1118C>T c.(1117-1119)aCc>aTc p.T373I RCC1_ENST00000398958.2_Missense_Mutation_p.T373I|RCC1_ENST00000373831.3_Missense_Mutation_p.T404I|RCC1_ENST00000373832.1_Missense_Mutation_p.T373I P18754 RCC1_HUMAN regulator of chromosome condensation 1 373 cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) GGCATGGGCACCAACTACCAG 0.582000 4 6 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20295638 20295638 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:20295638G>A ENST00000315947.1 + 1 31 c.31G>A c.(31-33)Gaa>Aaa p.E11K OR4N2_ENST00000568211.1_Missense_Mutation_p.E11K NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGTGATAAGAGAATTCATCCT 0.388000 34 137 0 0 1 0 0 POMGNT2 84892 broad.mit.edu 37 3 43121553 43121553 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:43121553G>A ENST00000344697.2 - 2 1716 c.1371C>T c.(1369-1371)ctC>ctT p.L457L GTDC2_ENST00000441964.1_Silent_p.L457L NM_032806.4 NP_116195.2 TGGTTTGAATGAGGGACGGGA 0.617000 15 26 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38704973 38704973 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:38704973G>A ENST00000359357.3 + 4 496 c.242G>A c.(241-243)gGa>gAa p.G81E DNAH8_ENST00000449981.2_Missense_Mutation_p.G298E|DNAH8_ENST00000441566.1_Missense_Mutation_p.G81E dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCCAAGCAGGGAGAATCTGAA 0.323000 25 37 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274150 39274150 + Missense_Mutation SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:39274150T>A ENST00000391413.2 - 1 456 c.418A>T c.(418-420)Agc>Tgc p.S140C NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 140 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.S140C(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ctggagatgctgcagctgggg 0.672000 4 42 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41038976 41038976 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:41038976C>T ENST00000399564.4 - 21 2526 c.2076G>A c.(2074-2076)ggG>ggA p.G692G MROH2B_ENST00000506092.2_Silent_p.G247G NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GGCTCTTTTTCCCAGAAAAAA 0.438000 9 20 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25479235 25479235 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:25479235G>A ENST00000453082.2 + 0 1776 NR_003343.1 CTCGTGTTGGGCCCACAGGCC 0.587000 10 11 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213386 9213386 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:9213386G>A ENST00000305456.2 - 1 596 c.597C>T c.(595-597)ttC>ttT p.F199F NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 CCAGTTCACAGAAGAAGAGCG 0.468000 18 19 0 0 1 0 0 ONECUT2 9480 broad.mit.edu 37 18 55103586 55103586 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:55103586C>T ENST00000491143.2 + 1 670 c.638C>T c.(637-639)cCc>cTc p.P213L NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 213 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) CTCTACAGTCCCTACAAGGAG 0.687000 7 12 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792622 143792622 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:143792622C>T ENST00000408949.2 + 1 482 c.422C>T c.(421-423)aCt>aTt p.T141I NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) AGAGTGTGCACTGTCCTGGCC 0.448000 20 56 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24817561 24817561 + Missense_Mutation SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:24817561A>G ENST00000395799.3 + 16 4415 c.4286A>G c.(4285-4287)cAg>cGg p.Q1429R CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q1380R NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1429 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) GCGCAGAGTCAGAGAAGCGTG 0.502000 13 19 0 0 1 0 0 ERI1 90459 broad.mit.edu 37 8 8887319 8887319 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:8887319C>T ENST00000523898.1 + 8 1504 c.825C>T c.(823-825)acC>acT p.T275T ERI1_ENST00000520332.1_Intron|ERI1_ENST00000519292.1_Silent_p.T275T|ERI1_ENST00000250263.7_Silent_p.T275T Q8IV48 ERI1_HUMAN exoribonuclease 1 275 Exonuclease. gene silencing by RNA|rRNA 3'-end processing cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus 3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 Adenosine monophosphate(DB00131) GAAGCCAAACCAAACTGACAA 0.358000 16 32 0 0 1 0 0 SMR3A 26952 broad.mit.edu 37 4 71232663 71232663 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:71232663C>T ENST00000226460.4 + 3 453 c.357C>T c.(355-357)ttC>ttT p.F119F NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 119 Pro-rich. extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) CTCCATTTTTCCCTGTAAATT 0.512000 20 27 0 0 1 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112999513 112999513 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:112999513C>T ENST00000271277.6 + 6 1624 c.1399C>T c.(1399-1401)Cag>Tag p.Q467* RP4-671G15.3_ENST00000508462.1_RNA|CTTNBP2NL_ENST00000607039.1_3'UTR NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 467 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCACAAATTTCAGTCCCAAGC 0.542000 47 62 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32364152 32364152 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:32364152C>T ENST00000357033.4 - 39 5700 c.5494G>A c.(5494-5496)Gac>Aac p.D1832N DMD_ENST00000378677.2_Missense_Mutation_p.D1828N 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 1832 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) TGTAAGTTGTCTCCTCTTTGC 0.338000 19 21 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004105 74004105 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:74004105G>A ENST00000301607.3 - 22 5434 c.5181C>T c.(5179-5181)acC>acT p.T1727T EVPL_ENST00000586740.1_Silent_p.T1749T NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1727 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GCCCCGAGGTGGTGACCTCCT 0.642000 33 32 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48883263 48883263 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:48883263C>T ENST00000262105.2 + 11 1836 c.1627C>T c.(1627-1629)Ctc>Ttc p.L543F MCM4_ENST00000523944.1_Missense_Mutation_p.L543F|MCM4_ENST00000518680.1_3'UTR NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 543 MCM. 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|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) TGCAGTTGGCCTCACTGCGTA 0.577000 16 19 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36083860 36083860 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:36083860G>A ENST00000378660.1 + 2 231 c.43_splice c.e2+1 p.D15_splice CHDC2_ENST00000313548.4_Splice_Site_p.D15_splice calponin homology domain containing 2 p.D15Y(1) TTTAAAGAATGGTAAGCTATG 0.308000 4 11 0 0 1 0 0 TMEM27 57393 broad.mit.edu 37 X 15663086 15663086 + Silent SNP A A C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:15663086A>C ENST00000380342.3 - 4 525 c.270T>G c.(268-270)ccT>ccG p.P90P NM_020665.4 NP_065716.1 Q9HBJ8 TMM27_HUMAN transmembrane protein 27 90 proteolysis integral to membrane metallopeptidase activity|peptidyl-dipeptidase activity endometrium(3)|lung(4)|ovary(1) 8 Hepatocellular(33;0.183) GATTTTTTGAAGGGTCTGTAA 0.398000 19 23 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183651421 183651421 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:183651421C>T ENST00000511685.1 + 15 2777 c.2654C>T c.(2653-2655)tCg>tTg p.S885L TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.S885L teneurin transmembrane protein 3 GTAAATGTCTCGTTTTTCCAT 0.408000 16 40 0 0 1 0 0 IL17RD 54756 broad.mit.edu 37 3 57135230 57135230 + Missense_Mutation SNP G G A rs145766256 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:57135230G>A ENST00000296318.7 - 11 1229 c.1141C>T c.(1141-1143)Ctc>Ttc p.L381F IL17RD_ENST00000463523.1_Missense_Mutation_p.L237F|IL17RD_ENST00000427856.2_Missense_Mutation_p.L357F|IL17RD_ENST00000320057.5_Missense_Mutation_p.L237F NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D 381 SEFIR. Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) AAGTCCTGGAGGAAGTAGGCG 0.557000 7 12 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77375696 77375696 + Splice_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:77375696C>T ENST00000282849.5 - 11 2033 c.1614_splice c.e11-1 p.D539_splice NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 539 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTGCAAATATCCTGAAATAAA 0.383000 3 6 0 0 1 0 0 SELO 83642 broad.mit.edu 37 22 50649166 50649166 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:50649166C>T ENST00000380903.2 + 5 1235 c.1177C>T c.(1177-1179)Ctg>Ttg p.L393L RP3-402G11.5_ENST00000492092.1_3'UTR NM_031454.1 NP_113642.1 GGCCGAGGCCCTGCAGCCGGA 0.657000 OREG0026676 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 39 0 0 1 0 0 CXCL6 6372 broad.mit.edu 37 4 74702957 74702957 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:74702957C>T ENST00000226317.5 + 3 534 c.280C>T c.(280-282)Ccg>Tcg p.P94S CXCL6_ENST00000503446.1_3'UTR|CXCL6_ENST00000515050.1_Missense_Mutation_p.P94S NM_002993.3 NP_002984.1 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 94 cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding large_intestine(1)|lung(7) 8 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TTGTCTGGACCCGGAAGCCCC 0.443000 14 36 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712649 140712649 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140712649G>A ENST00000517417.1 + 1 2398 c.2398G>A c.(2398-2400)Gac>Aac p.D800N PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D800N NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTACTTGAAGACAAAAAGGA 0.413000 26 29 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75072544 75072544 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:75072544C>T ENST00000326665.5 - 10 1448 c.1230G>A c.(1228-1230)ccG>ccA p.P410P RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.P213P NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 410 p.P410P(1) 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 TCCTAGATTTCGGCAAAGACG 0.413000 38 49 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52534765 52534765 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:52534765C>T ENST00000216286.5 - 2 344 c.345G>A c.(343-345)acG>acA p.T115T NID2_ENST00000541773.1_Silent_p.T62T NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 115 NIDO. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TGCCGTGGCTCGTGTCGATGT 0.652000 12 23 0 0 1 0 0 IPO11 51194 broad.mit.edu 37 5 61811239 61811239 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:61811239G>A ENST00000325324.6 + 20 1976 c.1807G>A c.(1807-1809)Gta>Ata p.V603I IPO11_ENST00000409296.3_Missense_Mutation_p.V643I|KIF2A_ENST00000509663.2_3'UTR NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 603 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) GGGATGTTTGGTACAATATTT 0.338000 20 35 0 0 1 0 0 CXorf56 63932 broad.mit.edu 37 X 118676541 118676541 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:118676541C>T ENST00000320339.4 - 5 564 c.293G>A c.(292-294)cGg>cAg p.R98Q CXorf56_ENST00000476164.1_Missense_Mutation_p.R147Q|CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000371594.4_Missense_Mutation_p.R147Q|CXorf56_ENST00000536133.1_Missense_Mutation_p.R133Q|CXorf56_ENST00000486230.1_Missense_Mutation_p.R147Q NM_001170569.1 NP_001164040.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 147 protein binding cervix(1)|endometrium(2)|lung(7) 10 GTCTTTGGTCCGTTTGGTCAT 0.507000 15 38 0 0 1 0 0 CKMT1B 1159 broad.mit.edu 37 15 43890396 43890396 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:43890396G>A ENST00000300283.6 + 8 1274 c.882G>A c.(880-882)gaG>gaA p.E294E CKMT1B_ENST00000441322.1_Silent_p.E294E NM_020990.3 NP_066270.1 P12532 KCRU_HUMAN creatine kinase, mitochondrial 1B 294 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity large_intestine(1)|lung(3)|skin(1) 5 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) CTCAGGTGGAGAGACTTATCC 0.473000 52 73 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129742840 129742840 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:129742840G>A ENST00000446488.3 - 22 2805 c.2702C>T c.(2701-2703)gCt>gTt p.A901V NFRKB_ENST00000304521.5_Missense_Mutation_p.A901V|NFRKB_ENST00000524746.1_Missense_Mutation_p.A901V|NFRKB_ENST00000524794.1_Missense_Mutation_p.A926V NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 901 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GGCACTGGGAGCAGAGGTCCC 0.592000 20 29 0 0 1 0 0 CAMK2B 816 broad.mit.edu 37 7 44259765 44259765 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:44259765G>A ENST00000395749.2 - 23 1973 c.1897C>T c.(1897-1899)Cgc>Tgc p.R633C CAMK2B_ENST00000347193.4_Missense_Mutation_p.R459C|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000350811.3_Missense_Mutation_p.R509C|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000395747.2_Missense_Mutation_p.R485C|CAMK2B_ENST00000358707.3_Missense_Mutation_p.R470C|CAMK2B_ENST00000440254.2_Missense_Mutation_p.R509C|CAMK2B_ENST00000258682.6_Missense_Mutation_p.R484C|CAMK2B_ENST00000346990.4_Missense_Mutation_p.R416C|CAMK2B_ENST00000457475.1_Missense_Mutation_p.R485C|CAMK2B_ENST00000353625.4_Missense_Mutation_p.R446C NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 633 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 TGGCTGGTGCGGGGCCGGCCC 0.672000 4 7 0 0 1 0 0 PLCD3 113026 broad.mit.edu 37 17 43198601 43198601 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:43198601G>A ENST00000322765.5 - 2 415 c.302C>T c.(301-303)cCg>cTg p.P101L PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 101 PH.|Substrate binding (By similarity). intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) TGGCGCACGCGGGATGCGCCG 0.731000 10 10 0 0 1 0 0 OR10T2 128360 broad.mit.edu 37 1 158369155 158369155 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:158369155G>A ENST00000334438.1 - 1 101 c.102C>T c.(100-102)ctC>ctT p.L34L NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) TCAAGTATAGGAGAAGAAAGA 0.488000 12 9 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62130278 62130278 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:62130278G>A ENST00000433197.2 - 17 2210 c.2115C>T c.(2113-2115)atC>atT p.I705I NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 705 Protein kinase. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 TCATGGCCTTGATCTTGCCGT 0.532000 12 6 0 0 1 0 0 SELO 83642 broad.mit.edu 37 22 50649165 50649165 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:50649165C>T ENST00000380903.2 + 5 1234 c.1176C>T c.(1174-1176)gcC>gcT p.A392A RP3-402G11.5_ENST00000492092.1_3'UTR NM_031454.1 NP_113642.1 TGGCCGAGGCCCTGCAGCCGG 0.657000 OREG0026676 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 38 0 0 1 0 0 SLC6A14 11254 broad.mit.edu 37 X 115582806 115582806 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:115582806G>A ENST00000371900.4 + 8 1218 c.1130G>A c.(1129-1131)gGa>gAa p.G377E NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 377 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) CATATATCTGGAAAGGAAGTT 0.323000 23 34 0 0 1 0 0 FKBP10 60681 broad.mit.edu 37 17 39975475 39975475 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:39975475C>T ENST00000321562.4 + 5 845 c.741C>T c.(739-741)ccC>ccT p.P247P NM_021939.3 NP_068758.3 Q96AY3 FKB10_HUMAN FK506 binding protein 10, 65 kDa 247 PPIase FKBP-type 2. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) CAGTGATCCCCCCACAGGCCT 0.612000 19 72 0 0 1 0 0 MDFI 4188 broad.mit.edu 37 6 41617376 41617376 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:41617376C>T ENST00000373050.4 + 3 283 c.96C>T c.(94-96)ccC>ccT p.P32P Q99750 MDFI_HUMAN MyoD family inhibitor 93 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) AGGGGAACCCCTTGGGCTGCA 0.647000 70 255 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56424571 56424571 + Silent SNP G G A rs142264094 byFrequency TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:56424571G>A ENST00000588751.1 - 5 636 c.612C>T c.(610-612)atC>atT p.I204I NLRP13_ENST00000342929.3_Silent_p.I204I Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 204 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ATGTATTACGGATATATACGT 0.498000 43 58 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41759338 41759338 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:41759338G>A ENST00000301831.4 - 23 2799 c.2337C>T c.(2335-2337)atC>atT p.I779I NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 779 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) TGTCTCTCTCGATGTACATCA 0.448000 13 20 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41004506 41004506 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:41004506C>T ENST00000399564.4 - 37 4586 c.4136G>A c.(4135-4137)cGa>cAa p.R1379Q MROH2B_ENST00000506092.2_Missense_Mutation_p.R934Q NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GCTCACGTCTCGGTCTGTCAG 0.463000 35 40 0 0 1 0 0 RNF19B 127544 broad.mit.edu 37 1 33402702 33402702 + Missense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:33402702G>T ENST00000373456.7 - 9 1903 c.1904C>A c.(1903-1905)cCc>cAc p.P635H RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.P634H NM_153341.2 NP_699172.2 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B 635 integral to membrane ligase activity|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TCTGCAGGGGGGATCCTCTTC 0.567000 29 58 5.45727e-16 5.55595e-16 1 1 0 MAP3K15 389840 broad.mit.edu 37 X 19390897 19390897 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:19390897G>A ENST00000338883.4 - 22 2981 c.2982C>T c.(2980-2982)tcC>tcT p.S994S MAP3K15_ENST00000359173.3_Silent_p.S429S|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.S826S NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 994 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) TGTCCTCCGGGGACGAGGCCA 0.612000 28 47 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33647708 33647708 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:33647708C>T ENST00000374316.5 + 32 5082 c.4022C>T c.(4021-4023)tCg>tTg p.S1341L ITPR3_ENST00000605930.1_Missense_Mutation_p.S1341L Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 1341 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GATAAGGCATCGCTGGCCCAC 0.632000 9 27 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128864240 128864240 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:128864240G>A ENST00000274487.4 + 6 1325 c.1180G>A c.(1180-1182)Gaa>Aaa p.E394K CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 394 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GCATCATGGAGAAAAAATGCT 0.353000 12 27 0 0 1 0 0 GSX2 170825 broad.mit.edu 37 4 54968052 54968052 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:54968052C>T ENST00000326902.2 + 2 1192 c.878C>T c.(877-879)gCc>gTc p.A293V GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 293 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) CTGTCGCCGGCCTCAGCCAAC 0.667000 6 18 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42818674 42818674 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:42818674G>A ENST00000598766.1 + 3 297 c.297G>A c.(295-297)ggG>ggA p.G99G TMEM145_ENST00000301204.3_Silent_p.G89G|TMEM145_ENST00000601020.1_3'UTR Q8NBT3 TM145_HUMAN transmembrane protein 145 89 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) ACAAGGCAGGGGACAAGGTGA 0.617000 57 76 0 0 1 0 0 ACSL3 2181 broad.mit.edu 37 2 223795369 223795369 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:223795369C>T ENST00000357430.3 + 14 2102 c.1571C>T c.(1570-1572)cCc>cTc p.P524L ACSL3_ENST00000392066.3_Missense_Mutation_p.P524L NM_004457.3 NP_004448.2 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 524 long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2) 22 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) AAGCCACACCCCAGGGGTGAA 0.328000 T ETV1 prostate 2 2 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248748 20248748 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:20248748G>A ENST00000315957.4 + 1 348 c.267G>A c.(265-267)agG>agA p.R89R NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R89S(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGTGGAGAGGAAGATAATTT 0.448000 60 221 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502563 140502563 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140502563G>A ENST00000194152.1 + 1 983 c.983G>A c.(982-984)gGa>gAa p.G328E NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 328 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCCTTTCTGGAAAAGGCACT 0.418000 60 99 0 0 1 0 0 SPINK6 404203 broad.mit.edu 37 5 147594500 147594500 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:147594500C>T ENST00000325630.2 + 4 486 c.230C>T c.(229-231)cCt>cTt p.P77L NM_001195290.1|NM_205841.3 NP_001182219.1|NP_995313.2 Q6UWN8 ISK6_HUMAN serine peptidase inhibitor, Kazal type 6 77 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTAAAGCATCCTGGAAAATGC 0.378000 12 21 0 0 1 0 0 CCDC81 60494 broad.mit.edu 37 11 86126324 86126324 + Missense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:86126324G>T ENST00000278487.3 + 12 1944 c.865G>T c.(865-867)Gat>Tat p.D289Y CCDC81_ENST00000528728.1_Missense_Mutation_p.D289Y|CCDC81_ENST00000354755.1_Missense_Mutation_p.D464Y|CCDC81_ENST00000445632.2_Missense_Mutation_p.D554Y Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 554 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) CCAGAGGCGGGATTTGCAAAT 0.463000 7 9 2.7689e-08 2.79204e-08 1 1 0 WNK2 65268 broad.mit.edu 37 9 95992139 95992139 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:95992139G>A ENST00000297954.4 + 2 843 c.843G>A c.(841-843)ggG>ggA p.G281G WNK2_ENST00000395475.2_Silent_p.G267G|WNK2_ENST00000395477.2_Silent_p.G281G|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000349097.3_5'UTR Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 281 Protein kinase. intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 TGACCTCAGGGACGCTGAAGA 0.637000 10 0 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31322904 31322904 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:31322904C>T ENST00000269197.5 + 12 3092 c.3092C>T c.(3091-3093)tCc>tTc p.S1031F NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1031 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CAACCAGTCTCCAAACCTGAG 0.473000 7 10 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160061597 160061597 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:160061597G>A ENST00000327245.5 - 12 1991 c.1145C>T c.(1144-1146)tCt>tTt p.S382F CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 382 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GACATACAAAGAGATGGGGAT 0.463000 10 23 0 0 1 0 0 LONRF1 91694 broad.mit.edu 37 8 12595517 12595517 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:12595517G>A ENST00000398246.3 - 4 1169 c.1100C>T c.(1099-1101)cCt>cTt p.P367L LONRF1_ENST00000533751.1_Missense_Mutation_p.P10L NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 367 proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) CTTTGGGCTAGGTTCATTGAG 0.413000 22 32 0 0 1 0 0 TP53AIP1 63970 broad.mit.edu 37 11 128807489 128807489 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:128807489G>A ENST00000602346.1 - 2 434 c.225C>T c.(223-225)atC>atT p.I75I TP53AIP1_ENST00000531399.1_Intron|TP53AIP1_ENST00000530777.1_Intron|TP53AIP1_ENST00000458238.2_Intron NM_001251964.1 NP_001238893.1 Q9HCN2 TPIP1_HUMAN tumor protein p53 regulated apoptosis inducing protein 1 0 apoptosis mitochondrion large_intestine(1)|lung(1)|skin(1) 3 GAAAACTTGGGATGTCGGCAC 0.587000 17 36 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129189888 129189888 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:129189888T>C ENST00000540052.1 + 12 4957 c.4913T>C c.(4912-4914)aTc>aCc p.I1638T BCORL1_ENST00000359304.2_Missense_Mutation_p.I1508T|BCORL1_ENST00000218147.7_Missense_Mutation_p.I1638T|BCORL1_ENST00000303743.5_Missense_Mutation_p.I1712T NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1638 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TCCTCGAGGATCTTTCAGGCC 0.572000 59 116 0 0 1 0 0 PNMA3 29944 broad.mit.edu 37 X 152225435 152225435 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:152225435A>T ENST00000447306.1 + 2 359 c.23A>T c.(22-24)gAc>gTc p.D8V PNMA3_ENST00000370264.4_Missense_Mutation_p.D8V|PNMA3_ENST00000370265.4_Missense_Mutation_p.D8V NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 8 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) ttgttacaggactggtgtcgg 0.567000 25 48 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10356532 10356532 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:10356532C>T ENST00000255381.2 - 24 3158 c.3048G>A c.(3046-3048)atG>atA p.M1016I CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1016 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGTCCTCCTCCATCTGCAGGT 0.493000 73 30 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201751991 201751991 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:201751991C>T ENST00000367296.4 + 6 2771 c.2351C>T c.(2350-2352)cCt>cTt p.P784L NAV1_ENST00000367302.1_Missense_Mutation_p.P797L|NAV1_ENST00000367297.4_Missense_Mutation_p.P784L|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367295.1_Missense_Mutation_p.P393L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.P784L|NAV1_ENST00000295624.6_Missense_Mutation_p.P784L NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 784 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CCACCAACCCCTCTCAGGTAC 0.542000 16 30 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89653788 89653788 + Missense_Mutation SNP A A C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:89653788A>C ENST00000371953.3 + 2 1443 c.86A>C c.(85-87)tAt>tCt p.Y29S NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 29 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(8)|p.Y27fs*1(3) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TCAGATATTTATCCAAACATT 0.294000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 11 6 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35453107 35453107 + Missense_Mutation SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:35453107A>G ENST00000287272.2 + 4 522 c.502A>G c.(502-504)Agg>Ggg p.R168G UNC5D_ENST00000404895.2_Missense_Mutation_p.R168G|UNC5D_ENST00000453357.2_Missense_Mutation_p.R163G|UNC5D_ENST00000420357.1_Missense_Mutation_p.R168G|UNC5D_ENST00000416672.1_Missense_Mutation_p.R168G Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 168 Ig-like C2-type. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CCCACAAGGAAGGGAAGTTCC 0.483000 33 46 0 0 1 0 0 FLRT3 23767 broad.mit.edu 37 20 14306245 14306245 + Nonsense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:14306245G>T ENST00000378053.3 - 2 2164 c.1908C>A c.(1906-1908)taC>taA p.Y636* MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Nonsense_Mutation_p.Y636*|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 636 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) CACTGTCTCTGTAGCTTCGGT 0.418000 28 43 2.47511e-08 2.49728e-08 1 1 0 CD163L1 283316 broad.mit.edu 37 12 7522075 7522075 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:7522075C>T ENST00000313599.3 - 15 3974 c.3917G>A c.(3916-3918)gGa>gAa p.G1306E CD163L1_ENST00000416109.2_Missense_Mutation_p.G1316E|CD163L1_ENST00000396630.1_Missense_Mutation_p.G1306E Q9NR16 C163B_HUMAN CD163 molecule-like 1 1306 SRCR 12. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CCAGATGGTTCCAGTTCCCTG 0.582000 32 59 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71491772 71491772 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:71491772G>A ENST00000296755.7 + 5 2888 c.2590G>A c.(2590-2592)Gaa>Aaa p.E864K NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 864 microtubule|microtubule associated complex structural molecule activity p.E864K(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AATCGAAGACGAAGAGAAACT 0.493000 38 46 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77651399 77651399 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:77651399G>A ENST00000461745.1 + 20 3793 c.2893G>A c.(2893-2895)Gca>Aca p.A965T ROBO2_ENST00000487694.3_Missense_Mutation_p.A981T|ROBO2_ENST00000332191.8_Missense_Mutation_p.A965T NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 965 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GGATAAAACAGCAACGATGCT 0.458000 14 29 0 0 1 0 0 ABCF3 55324 broad.mit.edu 37 3 183908823 183908823 + Silent SNP C C T rs151176558 by1000genomes TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:183908823C>T ENST00000429586.2 + 15 1613 c.1428C>T c.(1426-1428)gtC>gtT p.V476V ABCF3_ENST00000292808.5_Silent_p.V470V|EIF2B5_ENST00000444495.1_Intron NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 476 ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AATCAGAGGTCGTAATGAAGT 0.507000 7 22 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34008484 34008484 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:34008484C>T ENST00000373381.4 - 58 9289 c.9113G>A c.(9112-9114)gGg>gAg p.G3038E NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3013 Sushi 23. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCCAGGGTTCCCACAAGAGAT 0.493000 12 10 0 0 1 0 0 SEMA6B 10501 broad.mit.edu 37 19 4548329 4548329 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:4548329C>T ENST00000586582.1 - 13 1710 c.1400G>A c.(1399-1401)gGg>gAg p.G467E SEMA6B_ENST00000586965.1_Missense_Mutation_p.G467E|SEMA6B_ENST00000301293.3_Missense_Mutation_p.G467E NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 467 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CCCAGACGTCCCTGAGGTGCT 0.647000 22 31 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151336926 151336926 + Missense_Mutation SNP T T G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:151336926T>G ENST00000370314.4 - 10 1491 c.1253A>C c.(1252-1254)aAg>aCg p.K418T GABRA3_ENST00000370311.1_Missense_Mutation_p.K418T|RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.K418T NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 418 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGCAGCGCCCTTGGAGATGGT 0.557000 72 74 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216405466 216405466 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:216405466G>A ENST00000366943.2 - 14 3208 c.2822C>T c.(2821-2823)tCt>tTt p.S941F USH2A_ENST00000307340.3_Missense_Mutation_p.S941F|USH2A_ENST00000366942.3_Missense_Mutation_p.S941F O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 941 Laminin EGF-like 8. 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) ATTGCCTGGAGAAATATAAAA 0.343000 HNSCC(13;0.011) 25 25 0 0 1 0 0 HAS1 3036 broad.mit.edu 37 19 52217175 52217175 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:52217175G>A ENST00000540069.2 - 5 1299 c.1239C>T c.(1237-1239)ttC>ttT p.F413F HAS1_ENST00000594621.1_3'UTR|HAS1_ENST00000222115.1_Silent_p.F414F|HAS1_ENST00000601714.1_Silent_p.F421F Q92839 HAS1_HUMAN hyaluronan synthase 1 414 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TGGCCGCCACGAAGAAGGGGA 0.672000 7 18 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559772 140559772 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140559772G>A ENST00000239444.2 + 1 2402 c.2157G>A c.(2155-2157)agG>agA p.R719R NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 719 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGGAGCAGGGCGGCCTCGG 0.642000 48 70 0 0 1 0 0 PJA2 9867 broad.mit.edu 37 5 108672990 108672990 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:108672990G>A ENST00000361189.2 - 10 2308 c.2069C>T c.(2068-2070)tCc>tTc p.S690F PJA2_ENST00000361557.3_Missense_Mutation_p.S690F NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 690 Interaction with PRKAR1A, PRKAR2A and PRKAR2B. long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) AGGCTCAGAGGAAGGAGCTGC 0.468000 8 38 0 0 1 0 0 MAP3K14 9020 broad.mit.edu 37 17 43342164 43342164 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:43342164G>A ENST00000344686.2 - 0 2788 MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GCTGCAGCTGGGATCTAAGGG 0.587000 7 2 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179655490 179655490 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:179655490C>T ENST00000589042.1 - 11 1969 c.1745G>A c.(1744-1746)gGa>gAa p.G582E TTN_ENST00000360870.5_Missense_Mutation_p.G582E|TTN_ENST00000591111.1_Missense_Mutation_p.G582E|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G582E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 582 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) TTCTTGAGCTCCCGGGACTGT 0.418000 28 17 0 0 1 0 0 C12orf74 338809 broad.mit.edu 37 12 93100482 93100482 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:93100482G>A ENST00000544406.2 + 2 341 c.75G>A c.(73-75)agG>agA p.R25R C12orf74_ENST00000397833.3_Silent_p.R25R Q32Q52 CL074_HUMAN chromosome 12 open reading frame 74 25 kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 10 CCTCGCTGAGGAGCCTGCCAA 0.572000 15 26 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39911445 39911445 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:39911445C>T ENST00000425673.1 + 13 1677 c.1352C>T c.(1351-1353)cCt>cTt p.P451L PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P392L|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P451L|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.P451L|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.P451L Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 451 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CTTGGGTCTCCTCGACCTCGA 0.567000 34 64 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97544576 97544576 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:97544576C>T ENST00000370192.3 - 23 3134 c.3034G>A c.(3034-3036)Gaa>Aaa p.E1012K NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 1012 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CTCTTTGGTTCATAAGGTGTT 0.453000 37 85 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121016635 121016635 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:121016635C>T ENST00000392793.1 + 12 4186 c.3915C>T c.(3913-3915)ccC>ccT p.P1305P TECTA_ENST00000264037.2_Silent_p.P1305P|TECTA_ENST00000478058.1_3'UTR O75443 TECTA_HUMAN tectorin alpha 1305 VWFD 3. 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) GCCTGATCCCCAACCAGAACG 0.572000 38 44 0 0 1 0 0 RBM23 55147 broad.mit.edu 37 14 23374321 23374321 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:23374321G>A ENST00000359890.3 - 8 903 c.708C>T c.(706-708)atC>atT p.I236I RBM23_ENST00000346528.5_Silent_p.I202I|RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000542016.2_Silent_p.I66I|RBM23_ENST00000399922.2_Silent_p.I220I NM_001077351.1 NP_001070819.1 Q86U06 RBM23_HUMAN RNA binding motif protein 23 236 RRM 1. mRNA processing nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) CCTGTACAATGATAGGCACTC 0.527000 17 21 0 0 1 0 0 RNF152 220441 broad.mit.edu 37 18 59483681 59483681 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:59483681G>A ENST00000312828.3 - 2 1115 c.16C>T c.(16-18)Cag>Tag p.Q6* NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 6 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding p.Q6fs*37(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) AGAGAGTCCTGGGACAGCGTC 0.587000 39 39 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141722076 141722076 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:141722076C>T ENST00000475668.2 + 7 773 c.719C>T c.(718-720)tCg>tTg p.S240L MGAM_ENST00000549489.2_Missense_Mutation_p.S240L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 240 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGGTTTGACTCGAGCATTGGG 0.522000 25 25 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109740464 109740464 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:109740464C>T ENST00000399132.1 - 36 2397 c.1867G>A c.(1867-1869)Gaa>Aaa p.E623K NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 623 Collagen-like 7. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) TCCCCTTTTTCCCCCTTAACG 0.463000 11 23 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55145110 55145110 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:55145110C>T ENST00000396331.1 + 9 1640 c.1283C>T c.(1282-1284)tCc>tTc p.S428F LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_Missense_Mutation_p.S428F|LILRB1_ENST00000448689.1_Missense_Mutation_p.S428F|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000396332.4_Missense_Mutation_p.S428F|LILRB1_ENST00000396321.2_Missense_Mutation_p.S428F|LILRB1_ENST00000427581.2_Missense_Mutation_p.S464F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S428F|LILRB1_ENST00000396327.3_Missense_Mutation_p.S428F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S428F|LILRB1_ENST00000418536.2_Intron NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 428 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GGCCCCAGCTCCCCGACAACA 0.602000 HNSCC(37;0.09) 4 13 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18747451 18747451 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:18747451C>T ENST00000433979.1 + 29 4028 c.3912C>T c.(3910-3912)ttC>ttT p.F1304F PIK3C2G_ENST00000538779.1_Silent_p.F1345F|PIK3C2G_ENST00000266497.5_Silent_p.F1304F NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1304 PX. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TTAGCTTTTTCCTCTCTGAGG 0.289000 11 15 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093414 30093414 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:30093414G>A ENST00000567636.1 + 0 1789 NR_003558.1 CTCCCTTGCTGAACCCTGAGA 0.532000 42 50 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155028558 155028558 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:155028558C>T ENST00000356955.2 + 9 848 c.747C>T c.(745-747)ttC>ttT p.F249F ADAM15_ENST00000447332.3_Silent_p.F233F|ADAM15_ENST00000360674.4_Silent_p.F249F|ADAM15_ENST00000359280.4_Silent_p.F249F|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368412.3_Silent_p.F249F|ADAM15_ENST00000271836.6_Silent_p.F249F|ADAM15_ENST00000449910.2_Silent_p.F249F|ADAM15_ENST00000531455.1_Silent_p.F259F|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000355956.2_Silent_p.F249F NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 249 Peptidase M12B. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding p.F249L(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TCTTTCAGTTCTTCCGGCCCC 0.627000 16 37 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68993058 68993058 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:68993058G>A ENST00000288368.4 + 17 2140 c.1863G>A c.(1861-1863)aaG>aaA p.K621K PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 621 PDZ 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TGGTAGAAAAGGGATCTAATG 0.274000 6 13 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067958 190067958 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:190067958C>T ENST00000367462.3 - 8 1722 c.1491G>A c.(1489-1491)atG>atA p.M497I FAM5C_ENST00000534846.1_Missense_Mutation_p.M395I|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 497 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GCAGATATTTCATCTCGAGAT 0.498000 49 64 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221817 5221817 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:5221817G>A ENST00000321255.1 - 1 113 c.114C>T c.(112-114)atC>atT p.I38I NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGAGAAGGGGATGGAAAGCC 0.483000 33 54 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76734939 76734939 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:76734939C>T ENST00000369963.3 - 4 489 c.300G>A c.(298-300)gaG>gaA p.E100E IMPG1_ENST00000369950.3_Silent_p.E178E Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 178 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTTCACCAGGCTCTCCCAATG 0.338000 4 8 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 95013640 95013640 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:95013640C>T ENST00000357742.4 + 20 2439 c.2439C>T c.(2437-2439)ttC>ttT p.F813F MCTP2_ENST00000451018.3_Silent_p.F758F NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 813 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TTTTGTATTTCATTCCACTGC 0.403000 22 42 0 0 1 0 0 UFSP2 55325 broad.mit.edu 37 4 186336952 186336952 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:186336952C>T ENST00000264689.6 - 5 519 c.403G>A c.(403-405)Gaa>Aaa p.E135K UFSP2_ENST00000502282.1_5'UTR NM_018359.3 NP_060829.2 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 135 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) CTTTCCCTTTCAATGATGGGC 0.373000 21 24 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26515114 26515114 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:26515114C>T ENST00000531191.1 + 18 1849 c.842C>T c.(841-843)cCc>cTc p.P281L CNKSR1_ENST00000361530.6_Missense_Mutation_p.P539L|CNKSR1_ENST00000374253.5_Missense_Mutation_p.P546L Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 546 PDZ. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) GCTGGGAGTCCCCTCCATGGA 0.632000 9 13 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248309250 248309250 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:248309250C>T ENST00000366476.1 + 1 801 c.801C>T c.(799-801)tcC>tcT p.S267S NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CTGATCGCTCCCCTATGCAGG 0.517000 35 69 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450013 105450013 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:105450013C>T ENST00000337685.2 + 5 1373 c.588C>T c.(586-588)ttC>ttT p.F196F MUM1L1_ENST00000357175.2_Silent_p.F196F|MUM1L1_ENST00000372552.1_Silent_p.F196F NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 196 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 GCGAGACTTTCCCTTCACTTT 0.393000 5 7 0 0 1 0 0 TMEM222 84065 broad.mit.edu 37 1 27657221 27657221 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:27657221C>T ENST00000374076.4 + 2 243 c.205C>T c.(205-207)Ccc>Tcc p.P69S NM_032125.2 NP_115501.2 Q9H0R3 TM222_HUMAN transmembrane protein 222 69 integral to membrane protein binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 GTGGTTTTTCCCCATCATCGG 0.572000 45 70 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904739 73904739 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:73904739G>A ENST00000342056.2 + 15 2856 c.2458G>A c.(2458-2460)Gac>Aac p.D820N KCNQ5_ENST00000402622.2_Missense_Mutation_p.D811N|KCNQ5_ENST00000355635.3_Missense_Mutation_p.D802N|KCNQ5_ENST00000403813.2_Missense_Mutation_p.D792N|KCNQ5_ENST00000414165.2_Missense_Mutation_p.D691N|KCNQ5_ENST00000355194.4_Missense_Mutation_p.D801N|KCNQ5_ENST00000370398.1_Missense_Mutation_p.D801N NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 801 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TCTCACCAAGGACCGTTCTAT 0.488000 14 11 0 0 1 0 0 LMOD3 56203 broad.mit.edu 37 3 69168543 69168543 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:69168543G>A ENST00000420581.2 - 2 1142 c.963C>T c.(961-963)ttC>ttT p.F321F LMOD3_ENST00000489031.1_Silent_p.F321F|LMOD3_ENST00000475434.1_Silent_p.F321F NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 321 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) TACCTGTGATGAAATTGGACT 0.458000 42 87 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43447663 43447663 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:43447663G>A ENST00000282041.5 - 37 6310 c.6276C>T c.(6274-6276)ctC>ctT p.L2092L EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2092 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 TGACTTCACAGAGTACAGACC 0.438000 22 28 0 0 1 0 0 BAZ1A 11177 broad.mit.edu 37 14 35272177 35272177 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:35272177C>T ENST00000360310.1 - 7 1311 c.744G>A c.(742-744)acG>acA p.T248T BAZ1A_ENST00000358716.4_Silent_p.T248T|BAZ1A_ENST00000382422.2_Silent_p.T248T NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 248 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) CTATTTTATACGTTGAAAGAG 0.373000 17 22 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6008109 6008109 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:6008109G>A ENST00000332249.4 - 1 106 c.52C>T c.(52-54)Ctt>Ttt p.L18F NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAATTGCTAAGGAGCATTATC 0.463000 11 26 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167983673 167983673 + Missense_Mutation SNP T T G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:167983673T>G ENST00000357154.3 - 4 351 c.214A>C c.(214-216)Act>Cct p.T72P SPOCK3_ENST00000510741.1_Missense_Mutation_p.T69P|SPOCK3_ENST00000421836.2_Missense_Mutation_p.T21P|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511531.1_Missense_Mutation_p.T72P|SPOCK3_ENST00000504953.1_Missense_Mutation_p.T69P|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000511269.1_Missense_Mutation_p.T69P|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000502330.1_Missense_Mutation_p.T72P|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000357545.4_Missense_Mutation_p.T69P|SPOCK3_ENST00000512648.1_Missense_Mutation_p.T69P|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000506886.1_Missense_Mutation_p.T72P NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 72 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) GGACTCCAAGTGCGGAAATAA 0.294000 16 26 0 0 1 0 0 IGKV1-27 28935 broad.mit.edu 37 2 89513022 89513022 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:89513022C>T ENST00000498435.1 - 0 267 GAGATGGGACCCCTGATTGCA 0.488000 37 18 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 241031894 241031894 + Missense_Mutation SNP C C A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:241031894C>A ENST00000366565.1 - 9 983 c.602G>T c.(601-603)aGg>aTg p.R201M RGS7_ENST00000366562.4_Missense_Mutation_p.R201M|RGS7_ENST00000348120.2_Missense_Mutation_p.R148M|RGS7_ENST00000446183.2_Missense_Mutation_p.R117M|RGS7_ENST00000407727.1_Missense_Mutation_p.R201M|RGS7_ENST00000366564.1_Missense_Mutation_p.R201M|RGS7_ENST00000401882.1_Missense_Mutation_p.R148M|RGS7_ENST00000331110.7_Missense_Mutation_p.R175M|RGS7_ENST00000366563.1_Missense_Mutation_p.R201M NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 201 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TACCACGGGCCTGTGCACGTC 0.498000 11 35 5.50884e-06 5.53176e-06 1 1 0 PTPN9 5780 broad.mit.edu 37 15 75798234 75798234 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:75798234G>A ENST00000306726.2 - 7 1262 c.750C>T c.(748-750)ttC>ttT p.F250F NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 250 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCTGGGGTAGGAACTGGAAAT 0.537000 10 20 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135427550 135427550 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:135427550C>T ENST00000394143.1 + 6 1976 c.1685C>T c.(1684-1686)tCc>tTc p.S562F GPR112_ENST00000287534.4_Missense_Mutation_p.S499F|GPR112_ENST00000412101.1_Missense_Mutation_p.S357F|GPR112_ENST00000370652.1_Missense_Mutation_p.S562F|GPR112_ENST00000394141.1_Missense_Mutation_p.S357F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 562 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TTCTTAACATCCTTTTCATTT 0.418000 7 30 0 0 1 0 0 C6orf10 10665 broad.mit.edu 37 6 32260967 32260967 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:32260967C>T ENST00000375015.4 - 26 1680 c.1480G>A c.(1480-1482)Gat>Aat p.D494N C6orf10_ENST00000375007.4_Missense_Mutation_p.D493N|C6orf10_ENST00000447241.2_Missense_Mutation_p.D495N|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000527965.1_Missense_Mutation_p.D479N|C6orf10_ENST00000533191.1_Missense_Mutation_p.D493N Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 495 Lys-rich. integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 tttcctttATCCTCAAAACTC 0.378000 39 100 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501361 12501361 + Silent SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:12501361T>C ENST00000419318.1 - 4 2504 c.1755A>G c.(1753-1755)ggA>ggG p.G585G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.G617G Q96GE5 ZN799_HUMAN zinc finger protein 799 617 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 ACGGGTTCTCTCCAGTGTGAG 0.403000 32 55 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52716281 52716281 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:52716281C>T ENST00000322088.6 + 6 783 c.725C>T c.(724-726)gCc>gTc p.A242V PPP2R1A_ENST00000462990.1_Missense_Mutation_p.A63V|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.A187V NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 242 PP2A subunit B binding.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GATCTGGAGGCCCTGGTGATG 0.637000 Mis clear cell ovarian carcinoma 12 30 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6304174 6304174 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:6304174C>T ENST00000226760.1 + 8 2822 c.2652C>T c.(2650-2652)ttC>ttT p.F884F WFS1_ENST00000503569.1_Silent_p.F884F NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 884 Poly-Phe. endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) TCTTTTTCTTCCCATTCCTGT 0.632000 13 27 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66468383 66468383 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:66468383C>T ENST00000533211.1 - 17 3518 c.3187G>A c.(3187-3189)Gag>Aag p.E1063K SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1063K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1063K O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1063 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CGCCGCGCCTCCCCCAGCGAC 0.677000 19 18 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24831582 24831582 + Missense_Mutation SNP C C A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:24831582C>A ENST00000395799.3 + 22 5332 c.5203C>A c.(5203-5205)Ccg>Acg p.P1735T TNRC6A_ENST00000432286.2_Missense_Mutation_p.P213T|TNRC6A_ENST00000315183.7_Missense_Mutation_p.P1686T NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1735 Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) CCGCCCACCTCCGGGACTGAC 0.542000 17 40 2.37509e-13 2.40933e-13 1 1 0 SLC7A6OS 84138 broad.mit.edu 37 16 68338067 68338067 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:68338067C>T ENST00000263997.6 - 3 558 c.540G>A c.(538-540)gaG>gaA p.E180E NM_032178.2 NP_115554.2 Q96CW6 S7A6O_HUMAN solute carrier family 7, member 6 opposite strand 180 protein transport cytoplasm|nucleus breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106) CTGGTCCATCCTCAGACACAG 0.478000 38 60 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49568863 49568863 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:49568863C>T ENST00000545947.1 + 6 1641 c.919C>T c.(919-921)Ccc>Tcc p.P307S DAG1_ENST00000308775.2_Missense_Mutation_p.P307S|DAG1_ENST00000538711.1_Missense_Mutation_p.P307S|DAG1_ENST00000541308.1_Missense_Mutation_p.P307S|DAG1_ENST00000539901.1_Missense_Mutation_p.P307S|DAG1_ENST00000515359.2_Missense_Mutation_p.P307S NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 307 Required for laminin recognition. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GCCCCCTCTTCCCAAACGCGT 0.617000 21 31 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17746424 17746424 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:17746424A>T ENST00000380060.3 + 6 4473 c.4135A>T c.(4135-4137)Aat>Tat p.N1379Y NHS_ENST00000398097.3_Missense_Mutation_p.N1223Y NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1379 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GACCCAAGGAAATGTGGATGA 0.393000 8 10 0 0 1 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40652901 40652901 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:40652901C>T ENST00000343619.4 + 16 1979 c.1856C>T c.(1855-1857)tCc>tTc p.S619F ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S626F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S576F|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S619F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S619F|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.S265F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S576F NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 619 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TTCCTCTTTTCCTACCCAGAG 0.428000 45 60 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92487982 92487982 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:92487982G>A ENST00000267622.4 - 4 879 c.506C>T c.(505-507)tCa>tTa p.S169L NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 169 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTGTTGGGATGAAATTATATC 0.393000 T PDGFRB AML 11 22 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22962505 22962505 + Missense_Mutation SNP C C T rs139576657 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:22962505C>T ENST00000313077.7 + 20 2350 c.2225C>T c.(2224-2226)cCg>cTg p.P742L CYFIP1_ENST00000560848.1_Missense_Mutation_p.P742L|CYFIP1_ENST00000435939.2_Missense_Mutation_p.P311L NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 742 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CACCTCCCGCCGTCTAACCGC 0.522000 12 12 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113506747 113506747 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:113506747G>A ENST00000505019.1 - 14 4176 c.4051C>T c.(4051-4053)Cat>Tat p.H1351Y NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GGTTGACTATGATGGCAGGAT 0.373000 7 6 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31538328 31538328 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:31538328G>A ENST00000261592.5 - 7 1408 c.1111C>T c.(1111-1113)Cga>Tga p.R371* NOL4_ENST00000535475.1_Nonsense_Mutation_p.R216*|NOL4_ENST00000538587.1_Nonsense_Mutation_p.R297*|NOL4_ENST00000535384.1_Nonsense_Mutation_p.R86*|NOL4_ENST00000269185.4_Nonsense_Mutation_p.R257*|NOL4_ENST00000589544.1_Nonsense_Mutation_p.R371* NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 371 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TCAGCTCCTCGGTCTACACTC 0.458000 33 66 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196577388 196577388 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:196577388G>A ENST00000367433.5 - 1 153 c.52C>T c.(52-54)Cga>Tga p.R18* KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R18*|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.R18* Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 18 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 AGCAAATCTCGAAACCTGTAC 0.493000 18 30 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027036 37027036 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:37027036G>A ENST00000358047.3 + 1 605 c.553G>A c.(553-555)Gaa>Aaa p.E185K NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 185 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCCCTGTGGGGAATTCTCCCC 0.647000 8 15 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196967406 196967406 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:196967406G>A ENST00000367414.5 + 7 1247 c.1191G>A c.(1189-1191)ggG>ggA p.G397G CFHR5_ENST00000256785.4_Silent_p.G373G NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 373 Sushi 7. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GTATAAACGGGAAATGGAATC 0.323000 8 11 0 0 1 0 0 OTUD3 23252 broad.mit.edu 37 1 20231456 20231456 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:20231456C>T ENST00000375120.3 + 6 812 c.811C>T c.(811-813)Cgg>Tgg p.R271W NM_015207.1 NP_056022.1 Q5T2D3 OTUD3_HUMAN OTU domain containing 3 271 breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGCCGTGCTTCGGATGAACCA 0.294000 19 30 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171605754 171605754 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:171605754G>A ENST00000037502.5 - 3 885 c.826C>T c.(826-828)Ccc>Tcc p.P276S NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 276 Olfactomedin-like. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) GGGTAGGTGGGCTTGGGGTCT 0.527000 20 31 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725813 140725813 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140725813C>T ENST00000253812.6 + 1 2213 c.2213C>T c.(2212-2214)tCg>tTg p.S738L PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCCCGGCTCGCACTTTGTG 0.667000 50 58 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99690418 99690418 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:99690418C>T ENST00000524871.1 + 4 489 c.199C>T c.(199-201)Ccc>Tcc p.P67S CNTN5_ENST00000527185.1_Missense_Mutation_p.P67S|CNTN5_ENST00000279463.3_Missense_Mutation_p.P67S|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.P67S NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 67 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TGCTTCTTCACCCAGCTGGCT 0.423000 7 28 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954320 30954320 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:30954320C>T ENST00000376296.3 + 2 609 c.368C>T c.(367-369)tCt>tTt p.S123F MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 123 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 GCCACCAACTCTGAGTCCAGC 0.602000 75 172 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420863 11420863 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:11420863C>T ENST00000381842.3 - 0 357 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGACTGGTTTCCTCCTTGTGG 0.632000 144 171 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124934394 124934394 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:124934394G>A ENST00000356219.3 - 8 937 c.782C>T c.(781-783)tCc>tTc p.S261F NCOR2_ENST00000405201.1_Missense_Mutation_p.S261F|NCOR2_ENST00000429285.2_Missense_Mutation_p.S261F|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000404621.1_Missense_Mutation_p.S261F|NCOR2_ENST00000397355.1_Missense_Mutation_p.S261F NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 261 Interaction with SIN3A/B (By similarity). cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CCGGGTGTCGGAGGGCTGGTT 0.622000 11 16 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146471397 146471397 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:146471397C>T ENST00000361727.3 + 2 648 c.132C>T c.(130-132)ccC>ccT p.P44P NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 44 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTGGACTCCCCCATGTGGCTT 0.438000 HNSCC(39;0.1) 6 19 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34089009 34089009 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:34089009C>T ENST00000373381.4 - 36 5859 c.5683G>A c.(5683-5685)Ggt>Agt p.G1895S CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.G768S|CSMD2_ENST00000373377.1_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1855 CUB 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TTATCTGCACCATCAAATACT 0.483000 9 14 0 0 1 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20174290 20174290 + Silent SNP G G A rs147566276 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:20174290G>A ENST00000379565.3 - 21 2244 c.2037C>T c.(2035-2037)atC>atT p.I679I RPS6KA3_ENST00000544447.1_Silent_p.I651I|RPS6KA3_ENST00000540702.1_Silent_p.I650I|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000379548.4_Silent_p.I649I NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 679 Protein kinase 2. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 CCCAGTGGACGATCCAAGGAT 0.473000 39 49 0 0 1 0 0 TSPYL2 64061 broad.mit.edu 37 X 53114471 53114471 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:53114471G>A ENST00000375442.4 + 5 1338 c.1206G>A c.(1204-1206)agG>agA p.R402R NM_022117.3 NP_071400.1 Q9H2G4 TSYL2_HUMAN TSPY-like 2 402 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 19 GGGGCTCCAGGATAAAGAGAA 0.443000 8 19 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103898670 103898670 + Missense_Mutation SNP C C A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:103898670C>A ENST00000278070.2 + 4 563 c.524C>A c.(523-525)cCa>cAa p.P175Q PPRC1_ENST00000413464.2_Missense_Mutation_p.P175Q NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CGGACACCCCCAGAACGTGAC 0.542000 17 9 1.45105e-14 1.47551e-14 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38119355 38119355 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:38119355G>A ENST00000406386.3 + 7 1047 c.792G>A c.(790-792)agG>agA p.R264R RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 264 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CTGCCCAAAGGGACACTGCTC 0.607000 34 30 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148068 34148068 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:34148068C>T ENST00000346193.3 - 1 2379 c.2328G>A c.(2326-2328)atG>atA p.M776I NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 776 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TGTAAAATATCATTGCACGTT 0.388000 28 32 0 0 1 0 0 NUPL1 9818 broad.mit.edu 37 13 25887865 25887865 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:25887865C>T ENST00000463407.1 + 5 693 c.550C>T c.(550-552)Cag>Tag p.Q184* NUPL1_ENST00000381736.3_Nonsense_Mutation_p.Q184*|NUPL1_ENST00000381718.3_Nonsense_Mutation_p.Q172*|NUPL1_ENST00000466694.1_3'UTR Q9BVL2 NUPL1_HUMAN nucleoporin like 1 184 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1) 16 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) TTCACTTTTCCAGAGTACAAA 0.358000 26 48 0 0 1 0 0 MUCL1 118430 broad.mit.edu 37 12 55248369 55248369 + Translation_Start_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:55248369G>A ENST00000308796.6 + 1 49 c.3G>A c.(1-3)atG>atA p.M1I MUCL1_ENST00000547990.1_Intron|MUCL1_ENST00000546809.1_Intron NM_058173.2 NP_477521.1 Q96DR8 MUCL1_HUMAN mucin-like 1 1 extracellular region|membrane breast(1)|kidney(1)|lung(1) 3 TCACCACCATGAAGTTCTTAG 0.438000 10 16 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41552766 41552766 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:41552766G>A ENST00000396942.1 - 27 3127 c.3044C>T c.(3043-3045)tCc>tTc p.S1015F ANK1_ENST00000379758.2_Missense_Mutation_p.S1015F|ANK1_ENST00000396945.1_Missense_Mutation_p.S1015F|ANK1_ENST00000347528.4_Missense_Mutation_p.S1015F|ANK1_ENST00000289734.7_Missense_Mutation_p.S1015F|ANK1_ENST00000265709.8_Missense_Mutation_p.S1056F|ANK1_ENST00000352337.4_Missense_Mutation_p.S1015F P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1015 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTTCCACACGGAGCCGTTTTC 0.622000 40 79 0 0 1 0 0 FAM66D 100132923 broad.mit.edu 37 8 11985975 11985975 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:11985975G>A ENST00000434078.2 + 0 608 NR_027425.1 TCAAGACAAGGATGAGGACCT 0.478000 15 38 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50248635 50248635 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:50248635C>T ENST00000246801.3 - 7 1093 c.1011G>A c.(1009-1011)ctG>ctA p.L337L TSKS_ENST00000358830.3_Silent_p.L137L NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 337 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) ACCGGGCGGTCAGTGAGGACA 0.687000 3 10 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55568842 55568842 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:55568842C>T ENST00000395445.1 - 36 5362 c.4968G>A c.(4966-4968)agG>agA p.R1656R PCDH15_ENST00000395440.1_Silent_p.R590R|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395442.1_Silent_p.R521R|PCDH15_ENST00000395446.1_Silent_p.R852R NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CAATGTTTTTCCTTGCTTTTT 0.468000 HNSCC(58;0.16) 10 4 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 12749949 12749949 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:12749949C>T ENST00000379350.1 + 3 306 c.177C>T c.(175-177)ccC>ccT p.P59P PHACTR1_ENST00000379348.2_Silent_p.P59P|PHACTR1_ENST00000332995.7_Silent_p.P59P Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 59 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) ACCGGCGGCCCATCCGGAGAG 0.662000 15 34 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262979 140262979 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140262979G>A ENST00000289272.2 + 1 1126 c.1126G>A c.(1126-1128)Gat>Aat p.D376N PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.D376N|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 p.D376Y(1)|p.D376N(1) NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTGTGTCCGATCGTGACTC 0.502000 39 44 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148769369 148769369 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:148769369G>A ENST00000316286.9 - 3 509 c.237C>T c.(235-237)atC>atT p.I79I ZNF786_ENST00000491431.1_Silent_p.I165I|ZNF786_ENST00000451334.3_Silent_p.I128I Q8N393 ZN786_HUMAN zinc finger protein 786 165 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGGGACCTGGGATTCCTTCTT 0.612000 3 8 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16034826 16034826 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:16034826C>T ENST00000326742.7 - 6 715 c.714G>A c.(712-714)caG>caA p.Q238Q CYP4F11_ENST00000402119.3_Silent_p.Q238Q|CYP4F11_ENST00000248041.7_Silent_p.Q238Q Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 238 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GCAAGAGAATCTGCTGGTTTC 0.507000 32 42 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600384 29600384 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:29600384G>A ENST00000431530.3 + 1 1637 c.1579G>A c.(1579-1581)Gat>Aat p.D527N NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 517 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AGAGAATGCAGATAAGATTGA 0.507000 13 44 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57756691 57756691 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:57756691C>T ENST00000371236.2 - 2 275 c.12G>A c.(10-12)gaG>gaA p.E4E DAB1_ENST00000420954.2_Silent_p.E4E|DAB1_ENST00000439789.2_Silent_p.E4E|DAB1_ENST00000414851.2_Silent_p.E4E|DAB1_ENST00000371234.4_Silent_p.E4E|DAB1_ENST00000371230.1_Silent_p.E4E|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Silent_p.E4E O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 4 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GAAGTTCTGTCTCAGTTGACA 0.463000 17 20 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 3856009 3856009 + Splice_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:3856009C>T ENST00000324333.10 - 8 2201 c.2008_splice c.e8+1 p.G670_splice GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Splice_Site_p.G825_splice NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 670 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TCTTGCTTACCATGGACATGG 0.443000 20 20 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22902907 22902907 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:22902907G>A ENST00000166244.3 + 3 429 c.357G>A c.(355-357)aaG>aaA p.K119K EPHA8_ENST00000374644.4_Silent_p.K119K|EPHA8_ENST00000538803.1_Silent_p.K119K NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 119 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCACCTGCAAGGAGACCTTCA 0.617000 14 27 0 0 1 0 0 FCGR3B 2215 broad.mit.edu 37 1 161600943 161600943 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:161600943C>T ENST00000531221.1 - 1 53 c.50G>A c.(49-51)gGc>gAc p.G17D FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Intron|FCGR3B_ENST00000294800.3_5'UTR O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 0 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGGGACCAAGCCGACTAGACA 0.512000 10 9 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184298273 184298273 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:184298273G>A ENST00000330394.2 + 12 2708 c.2256G>A c.(2254-2256)atG>atA p.M752I EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 752 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) TGTCCGAGATGAACTATGTGC 0.577000 38 60 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923500 9923500 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:9923500C>T ENST00000396573.2 - 10 2096 c.1787G>A c.(1786-1788)gGg>gAg p.G596E GRIN2A_ENST00000330684.3_Missense_Mutation_p.G596E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G596E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G439E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G596E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G596E NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 596 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAAAGAAGGCCCATGGGGTGC 0.478000 14 10 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155263367 155263367 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:155263367C>T ENST00000392414.3 - 8 1151 c.1038G>A c.(1036-1038)atG>atA p.M346I PKLR_ENST00000342741.4_Missense_Mutation_p.M377I NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 377 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GCTTGGTAATCATGCTCTCCA 0.582000 12 18 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32745802 32745802 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:32745802C>T ENST00000333070.4 + 12 1508 c.1408C>T c.(1408-1410)Cct>Tct p.P470S LCK_ENST00000336890.5_Missense_Mutation_p.P440S|LCK_ENST00000373564.3_Missense_Mutation_p.P447S NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 440 Protein kinase. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) CGGCCGCATCCCTTACCCAGG 0.507000 T TRB@ T-ALL 15 15 0 0 1 0 0 HADHB 3032 broad.mit.edu 37 2 26508288 26508288 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:26508288C>T ENST00000317799.5 + 15 1342 c.1238C>T c.(1237-1239)cCt>cTt p.P413L HADHB_ENST00000405867.3_Missense_Mutation_p.P290L|HADHB_ENST00000545822.1_Missense_Mutation_p.P391L|HADHB_ENST00000537713.1_Missense_Mutation_p.P398L|HADHB_ENST00000494615.1_3'UTR NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 413 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGATTGCCTCCTTTGGAGAAG 0.473000 17 5 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48510938 48510938 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:48510938G>A ENST00000446524.1 + 1 670 c.594G>A c.(592-594)gtG>gtA p.V198V NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TCTTAGTGGTGGCCAATGGAG 0.448000 56 58 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31893359 31893359 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:31893359C>T ENST00000357033.4 - 48 7250 c.7044G>A c.(7042-7044)agG>agA p.R2348R DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Silent_p.R2344R|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR 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 2348 Missing (in DMD). 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 p.R2348K(1)|p.R2343R(1)|p.R1007K(1)|p.R2343K(1)|p.R1007R(1)|p.R2348R(1)|p.R2344K(1)|p.R2344R(1) 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) CCAACTGATTCCTAATAGGAG 0.338000 8 15 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50681780 50681780 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:50681780C>T ENST00000008391.3 + 1 240 c.12C>T c.(10-12)acC>acT p.T4T NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 4 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TGTCAACTACCTTTCCGGGAC 0.458000 11 64 0 0 1 0 0 ANKRD45 339416 broad.mit.edu 37 1 173616117 173616117 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:173616117G>A ENST00000333279.2 - 3 424 c.364C>T c.(364-366)Cgt>Tgt p.R122C NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 138 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 GTTTCCAAACGACCCCAGGCT 0.413000 11 27 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38723782 38723782 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:38723782A>T ENST00000359357.3 + 8 1045 c.791A>T c.(790-792)aAt>aTt p.N264I DNAH8_ENST00000449981.2_Missense_Mutation_p.N481I|DNAH8_ENST00000441566.1_Missense_Mutation_p.N264I dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AATTTGATTAATGCCATCAGA 0.318000 18 31 0 0 1 0 0 SMYD5 10322 broad.mit.edu 37 2 73446018 73446018 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:73446018C>T ENST00000389501.4 + 2 171 c.126C>T c.(124-126)atC>atT p.I42I SMYD5_ENST00000474652.1_3'UTR NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 42 metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 CACAGCTCATCCGGAAGGGGG 0.547000 15 8 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118772714 118772714 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:118772714G>A ENST00000334801.3 - 6 2702 c.1738C>T c.(1738-1740)Ctg>Ttg p.L580L BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 580 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GGCCCCCGCAGCTGCGCACCC 0.652000 9 15 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121059869 121059869 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:121059869G>A ENST00000392793.1 + 22 6514 c.6243G>A c.(6241-6243)agG>agA p.R2081R TECTA_ENST00000264037.2_Silent_p.R2081R O75443 TECTA_HUMAN tectorin alpha 2081 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) GACCTATTAGGAGAAAAAGTA 0.428000 9 18 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101840442 101840442 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:101840442G>A ENST00000360264.3 + 15 1804 c.1784G>A c.(1783-1785)gGg>gAg p.G595E CUX1_ENST00000556210.1_Missense_Mutation_p.G482E|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.G584E|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G584E|CUX1_ENST00000292535.7_Missense_Mutation_p.G584E|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.G482E NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 584 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CTGTCTCAAGGGTCCGTGAGC 0.502000 43 55 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26587134 26587134 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:26587134G>A ENST00000436318.2 - 2 486 c.353C>T c.(352-354)tCa>tTa p.S118L ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.S118L|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.S118L|MUC15_ENST00000455601.2_Missense_Mutation_p.S91L|MUC15_ENST00000281268.8_Missense_Mutation_p.S118L Q8N387 MUC15_HUMAN mucin 15, cell surface associated 91 extracellular region|integral to membrane|plasma membrane p.S91L(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 CTCTGCTGATGAGTTACTGGA 0.433000 17 16 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179732780 179732780 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:179732780G>A ENST00000420890.2 - 16 2664 c.2547C>T c.(2545-2547)gtC>gtT p.V849V CCDC141_ENST00000295723.5_Silent_p.V274V NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 274 Ig-like. protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) AGATGATGTCGACTCCTAAGG 0.498000 15 9 0 0 1 0 0 PRAF2 11230 broad.mit.edu 37 X 48931591 48931591 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:48931591G>A ENST00000376390.4 - 1 139 c.56C>T c.(55-57)tCg>tTg p.S19L WDR45_ENST00000376358.3_Intron|PRAF2_ENST00000376386.3_Missense_Mutation_p.S19L|WDR45_ENST00000553851.1_Intron NM_007213.1 NP_009144.1 PRA1 domain family, member 2 endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 8 CAGACGCGCCGACCCCAGAAC 0.637000 9 15 0 0 1 0 0 B3GALNT2 148789 broad.mit.edu 37 1 235617519 235617519 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:235617519C>T ENST00000366600.3 - 10 1488 c.1260G>A c.(1258-1260)aaG>aaA p.K420K NM_152490.2 NP_689703.1 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 420 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) TGACGATGTCCTTGGAGATCA 0.517000 18 28 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307998 140307998 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140307998C>T ENST00000253807.2 + 1 1521 c.1521C>T c.(1519-1521)atC>atT p.I507I PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.I507I|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGGGCCATCACTGCCAAAA 0.512000 32 42 0 0 1 0 0 SLC17A4 10050 broad.mit.edu 37 6 25769286 25769286 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:25769286G>A ENST00000377905.4 + 3 284 c.165G>A c.(163-165)atG>atA p.M55I SLC17A4_ENST00000439485.2_Missense_Mutation_p.M55I|SLC17A4_ENST00000397076.2_Start_Codon_SNP_p.M1I NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 55 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CCCAACAAATGAACTTGAGCA 0.498000 55 8 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5969447 5969447 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:5969447C>T ENST00000329564.6 + 1 878 c.871C>T c.(871-873)Ctt>Ttt p.L291F NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCTGCAGCCCTTAACCCCAT 0.473000 34 45 0 0 1 0 0 NCR2 9436 broad.mit.edu 37 6 41303909 41303909 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:41303909G>A ENST00000373083.4 + 2 359 c.137G>A c.(136-138)gGc>gAc p.G46D NCR2_ENST00000373086.3_Missense_Mutation_p.G46D|NCR2_ENST00000373089.5_Missense_Mutation_p.G46D NM_001199510.1 NP_001186439.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 46 Ig-like. cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) CCGCCCACGGGCAGTCTCTAC 0.557000 19 32 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15686188 15686188 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:15686188C>T ENST00000378076.3 - 13 1593 c.1240G>A c.(1240-1242)Gat>Aat p.D414N NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 414 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CCTCTTTGATCCTTGCCTGCA 0.398000 7 6 0 0 1 0 0 RPS13 6207 broad.mit.edu 37 11 17097072 17097072 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:17097072G>A ENST00000525634.1 - 4 395 c.250C>T c.(250-252)Ctt>Ttt p.L84F RPS13_ENST00000526895.1_5'UTR|RPS13_ENST00000228140.2_Missense_Mutation_p.L84F P62277 RS13_HUMAN ribosomal protein S13 84 endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus mRNA binding|protein binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2) 5 TCTTCAGGAAGATCAGGAGCA 0.373000 12 14 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42361152 42361152 + Silent SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:42361152A>G ENST00000298119.4 + 4 3274 c.2085A>G c.(2083-2085)gcA>gcG p.A695A LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 695 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTAAAAGAGCACATATAAAGC 0.443000 HNSCC(30;0.082) 9 6 0 0 1 0 0 DEFB112 245915 broad.mit.edu 37 6 50016276 50016276 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:50016276C>T ENST00000322246.4 - 1 88 c.89G>A c.(88-90)cGa>cAa p.R30Q NM_001037498.1 NP_001032587.1 Q30KQ8 DB112_HUMAN defensin, beta 112 30 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.042) TGTCCCATGTCGGGCCTTTTC 0.313000 16 31 0 0 1 0 0 HAPLN2 60484 broad.mit.edu 37 1 156593658 156593658 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:156593658C>T ENST00000255039.1 + 4 552 c.145C>T c.(145-147)Cgt>Tgt p.R49C NM_021817.2 NP_068589.1 Q9GZV7 HPLN2_HUMAN hyaluronan and proteoglycan link protein 2 49 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 7 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCACTCTCATCGTGGGGCCAC 0.687000 5 8 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3160684 3160684 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:3160684G>A ENST00000378398.3 + 3 503 c.421G>A c.(421-423)Gaa>Aaa p.E141K PRDM16_ENST00000514189.1_Missense_Mutation_p.E141K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E141K|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.E141K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E141K|PRDM16_ENST00000378391.2_Missense_Mutation_p.E141K|PRDM16_ENST00000270722.5_Missense_Mutation_p.E141K Q9HAZ2 PRD16_HUMAN PR domain containing 16 141 SET. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GTCGCCCCAGGAAGGCTGCAT 0.562000 T EVI1 """MDS, AML""" 15 20 0 0 1 0 0 LGALS9B 284194 broad.mit.edu 37 17 20358697 20358697 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:20358697G>A ENST00000423676.3 - 5 522 c.459C>T c.(457-459)gtC>gtT p.V153V LGALS9B_ENST00000324290.5_Silent_p.V153V Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B 153 sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 GCTGAACGGGGACTGTGCGGG 0.587000 13 2 0 0 1 0 0 OR9A4 130075 broad.mit.edu 37 7 141618830 141618830 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:141618830A>T ENST00000548136.1 + 1 214 c.155A>T c.(154-156)aAa>aTa p.K52I MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGTGTGGATAAACGTCTGCAG 0.448000 37 56 0 0 1 0 0 ANTXR1 84168 broad.mit.edu 37 2 69409720 69409720 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:69409720C>T ENST00000303714.4 + 16 1603 c.1281C>T c.(1279-1281)ttC>ttT p.F427F NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 427 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 AATATGAATTCCCTGAGCCGC 0.468000 Familial Infantile Hemangioma 20 6 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24809053 24809053 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:24809053G>A ENST00000376451.2 + 6 1488 c.1226_splice c.e6-1 p.E410_splice KIAA1217_ENST00000458595.1_Splice_Site_p.E692_splice|KIAA1217_ENST00000396446.1_Splice_Site_p.E410_splice|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Splice_Site_p.E410_splice|KIAA1217_ENST00000396445.1_Splice_Site_p.E410_splice|KIAA1217_ENST00000376462.1_Splice_Site_p.E647_splice|KIAA1217_ENST00000376454.3_Splice_Site_p.E727_splice|KIAA1217_ENST00000376452.3_Splice_Site_p.E692_splice Q5T5P2 SKT_HUMAN KIAA1217 727 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CTCCCGCAGCGAGTTGGAAGA 0.557000 35 17 0 0 1 0 0 STIM1 6786 broad.mit.edu 37 11 4107739 4107739 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:4107739C>T ENST00000300737.4 + 11 2076 c.1507C>T c.(1507-1509)Ctg>Ttg p.L503L STIM1_ENST00000533977.1_Silent_p.L330L|STIM1_ENST00000527651.1_Silent_p.L503L NM_003156.3 NP_003147.2 Q13586 STIM1_HUMAN stromal interaction molecule 1 503 activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) TCGGCAGCGCCTGACGGAGCC 0.617000 10 19 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2210807 2210807 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:2210807C>T ENST00000398665.3 + 14 1340 c.1304C>T c.(1303-1305)gCc>gTc p.A435V NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 435 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCACTGGATGCCCTGCACGCT 0.682000 8 31 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004348 74004348 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:74004348G>A ENST00000301607.3 - 22 5191 c.4938C>T c.(4936-4938)ctC>ctT p.L1646L EVPL_ENST00000586740.1_Silent_p.L1668L NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1646 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CCTTCTCGCGGAGGATGGCCG 0.677000 10 21 0 0 1 0 0 ZNF225 7768 broad.mit.edu 37 19 44636151 44636151 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:44636151G>A ENST00000262894.6 + 5 1664 c.1384G>A c.(1384-1386)Ggg>Agg p.G462R ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.G462R NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) TAAGGAATGTGGGAAGAGCTT 0.433000 18 31 0 0 1 0 0 C12orf5 57103 broad.mit.edu 37 12 4461505 4461505 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:4461505C>T ENST00000179259.4 + 6 528 c.461C>T c.(460-462)tCc>tTc p.S154F C12orf5_ENST00000537251.1_3'UTR NM_020375.2 NP_065108.1 Q9NQ88 TIGAR_HUMAN chromosome 12 open reading frame 5 154 intracellular fructose-2,6-bisphosphate 2-phosphatase activity endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) GAACAGTTTTCCCAAGGATCT 0.358000 18 30 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58620522 58620522 + Silent SNP G G A rs145116433 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:58620522G>A ENST00000317147.5 - 7 896 c.564C>T c.(562-564)ctC>ctT p.L188L CNOT1_ENST00000569240.1_Silent_p.L188L|CNOT1_ENST00000441024.2_Silent_p.L188L NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 188 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) GCCCAAAGAGGAGATGGGAGA 0.488000 94 172 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45786738 45786738 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr21:45786738G>A ENST00000397928.1 + 4 970 c.525G>A c.(523-525)ggG>ggA p.G175G TRPM2_ENST00000300482.5_Silent_p.G175G|TRPM2_ENST00000397932.2_Silent_p.G175G|TRPM2_ENST00000300481.9_Silent_p.G175G NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 175 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CGGTGACCGGGGGGGCCAAGA 0.612000 23 6 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52256780 52256780 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:52256780G>A ENST00000494383.1 - 5 2011 c.2012C>T c.(2011-2013)cCt>cTt p.P671L TLR9_ENST00000597542.1_Silent_p.L542L|TLR9_ENST00000360658.2_Silent_p.L518L 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) GTCAGCGGCAGGAACTGGGAG 0.622000 11 32 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37618054 37618054 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:37618054C>T ENST00000434837.2 - 8 2618 c.1440G>A c.(1438-1440)aaG>aaA p.K480K MDGA1_ENST00000505425.1_Silent_p.K480K|MDGA1_ENST00000297153.7_Silent_p.K480K NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 480 Ig-like 5. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 GTGCAGCCTCCTTGTCCACGC 0.711000 8 12 0 0 1 0 0 FAM81A 145773 broad.mit.edu 37 15 59784512 59784512 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:59784512G>A ENST00000288228.5 + 4 524 c.337G>A c.(337-339)Gga>Aga p.G113R NM_152450.2 NP_689663.2 Q8TBF8 FA81A_HUMAN family with sequence similarity 81, member A 113 endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 CATTAGCTATGGAACTAATTC 0.483000 4 7 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588695 247588695 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:247588695C>T ENST00000366497.2 + 4 2730 c.1950C>T c.(1948-1950)ttC>ttT p.F650F NLRP3_ENST00000348069.2_Silent_p.F650F|NLRP3_ENST00000336119.3_Silent_p.F650F|NLRP3_ENST00000391828.3_Silent_p.F650F|NLRP3_ENST00000391827.2_Silent_p.F650F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.F650F NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 650 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGGACTATTTCCCCAAGATTG 0.493000 13 15 0 0 1 0 0 OR9A4 130075 broad.mit.edu 37 7 141619575 141619575 + Silent SNP C C T rs142578561 by1000genomes TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:141619575C>T ENST00000548136.1 + 1 959 c.900C>T c.(898-900)gcC>gcT p.A300A MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TCATAGAGGCCCTTCGGGATG 0.428000 14 31 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071190 9071190 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:9071190G>A ENST00000397910.4 - 3 16459 c.16256C>T c.(16255-16257)tCc>tTc p.S5419F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5421 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 GGTGTTTGTGGAATGATGCAT 0.502000 116 205 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57089265 57089265 + Missense_Mutation SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:57089265T>A ENST00000330619.8 + 6 2154 c.1468T>A c.(1468-1470)Ttc>Atc p.F490I ZNF470_ENST00000391709.3_Missense_Mutation_p.F490I|ZNF470_ENST00000601902.1_Intron NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 490 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TGGGAAAGCTTTCCGGCAGAG 0.443000 19 28 0 0 1 0 0 SYN1 6853 broad.mit.edu 37 X 47464661 47464661 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:47464661G>A ENST00000295987.7 - 4 769 c.645C>T c.(643-645)tcC>tcT p.S215S SYN1_ENST00000340666.4_Silent_p.S215S NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 215 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 CAGAATGCAAGGAGTTAACAC 0.537000 6 10 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101186131 101186131 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:101186131C>T ENST00000294728.2 + 2 265 c.164C>T c.(163-165)cCa>cTa p.P55L VCAM1_ENST00000347652.2_Missense_Mutation_p.P55L|VCAM1_ENST00000370115.1_Missense_Mutation_p.P55L|VCAM1_ENST00000370119.4_Intron NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 55 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TGTGAGTCCCCATTTTTCTCT 0.473000 16 25 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141110552 141110552 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:141110552G>A ENST00000389484.3 - 76 12591 c.11620C>T c.(11620-11622)Caa>Taa p.Q3874* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3874 EGF-like 9. 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) TTTCTTTCTTGAAAATTCTGG 0.313000 TSP Lung(27;0.18) 17 9 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62076129 62076129 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:62076129G>A ENST00000354587.3 - 4 749 c.573C>T c.(571-573)gtC>gtT p.V191V KCNQ2_ENST00000370224.1_Silent_p.V191V|KCNQ2_ENST00000370226.1_Silent_p.V191V|KCNQ2_ENST00000344425.5_Silent_p.V191V|KCNQ2_ENST00000359125.2_Silent_p.V191V|KCNQ2_ENST00000360480.3_Silent_p.V191V|KCNQ2_ENST00000370222.3_Silent_p.V191V|KCNQ2_ENST00000357249.2_Silent_p.V191V|KCNQ2_ENST00000430658.1_Silent_p.V191V|KCNQ2_ENST00000344462.3_Silent_p.V191V|KCNQ2_ENST00000359689.1_Silent_p.V191V|KCNQ2_ENST00000370221.1_Silent_p.V191V O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 191 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) ATGTGGCAAAGACGTTGCCCT 0.662000 3 8 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120776803 120776803 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:120776803C>T ENST00000263713.5 + 2 357 c.143C>T c.(142-144)tCc>tTc p.S48F EPB41L5_ENST00000443902.2_Missense_Mutation_p.S48F|EPB41L5_ENST00000452780.1_Missense_Mutation_p.S48F|EPB41L5_ENST00000331393.4_Missense_Mutation_p.S48F|EPB41L5_ENST00000443124.1_Missense_Mutation_p.S48F NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 48 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 TGTCGGGTGTCCCTTCTGGAT 0.473000 58 26 0 0 1 0 0 KRTAP10-12 386685 broad.mit.edu 37 21 46117703 46117703 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr21:46117703C>T ENST00000400365.3 + 1 617 c.587C>T c.(586-588)tCc>tTc p.S196F TSPEAR_ENST00000323084.4_Intron NM_198699.1 NP_941972.1 P60413 KR10C_HUMAN keratin associated protein 10-12 196 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(8) 9 TCCTCCGTGTCCCTCCTCTGC 0.706000 59 29 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723347 58723347 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:58723347G>A ENST00000300079.5 + 7 899 c.849G>A c.(847-849)atG>atA p.M283I RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.M252I NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 252 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) TGCGATACATGAAATATCTGC 0.453000 9 17 0 0 1 0 0 IGHA2 3494 broad.mit.edu 37 14 106054648 106054648 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:106054648G>A ENST00000390539.2 - 0 84 AAGAAGCCCTGGACCAGGCAT 0.632000 17 40 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123161431 123161431 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:123161431C>T ENST00000264501.4 + 29 4967 c.4594C>T c.(4594-4596)Cgt>Tgt p.R1532C KIAA1109_ENST00000388738.3_Missense_Mutation_p.R1532C|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R1532C Q2LD37 K1109_HUMAN KIAA1109 1532 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CTCATTGCATCGTCCCCTTGA 0.383000 25 46 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46868953 46868953 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:46868953G>A ENST00000393382.3 - 9 1152 c.1011C>T c.(1009-1011)acC>acT p.T337T TTLL6_ENST00000433608.2_Silent_p.T30T NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 289 TTL. cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 ATGCACTGAAGGTGGAGAGCT 0.567000 OREG0024526 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 23 0 0 1 0 0 DAO 1610 broad.mit.edu 37 12 109294262 109294262 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:109294262G>A ENST00000228476.3 + 11 1199 c.995G>A c.(994-996)aGa>aAa p.R332K DAO_ENST00000551281.1_Missense_Mutation_p.R266K NM_001917.4 NP_001908.3 P14920 OXDA_HUMAN D-amino-acid oxidase 332 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 CTCTTTGGGAGAATCCTGGAA 0.562000 10 23 0 0 1 0 0 PRAMEF14 729528 broad.mit.edu 37 1 13669144 13669144 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:13669144C>T ENST00000344998.3 - 4 1224 c.1042G>A c.(1042-1044)Gac>Aac p.D348N PRAMEF14_ENST00000602491.1_5'UTR|PRAMEF14_ENST00000334600.6_Missense_Mutation_p.D396N Q5SWL7 PRA14_HUMAN PRAME family member 14 348 large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACAACAGGTCCTTCAGGGCA 0.542000 41 72 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123556299 123556299 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:123556299G>A ENST00000422452.2 - 24 4357 c.4294C>T c.(4294-4296)Cta>Tta p.L1432L TENM1_ENST00000371130.3_Silent_p.L1425L|STAG2_ENST00000469481.1_3'UTR NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GCTGACTCTAGAGTGGAGTGA 0.537000 23 44 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587694 55587694 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:55587694C>T ENST00000333976.4 + 1 609 c.589C>T c.(589-591)Cag>Tag p.Q197* NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TTACATCAACCAGTGGCTGCT 0.398000 30 56 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771320 143771320 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:143771320G>A ENST00000408898.2 + 1 46 c.8G>A c.(7-9)gGa>gAa p.G3E NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 3 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) GAAATGGGGGGAAATCAGACT 0.448000 21 25 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600884 29600884 + Missense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:29600884G>T ENST00000431530.3 + 1 2137 c.2079G>T c.(2077-2079)aaG>aaT p.K693N NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 683 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 ACGAAGAGAAGGCAGCAGGTG 0.587000 6 36 0.248553 0.248553 1 1 0 MEPE 56955 broad.mit.edu 37 4 88766616 88766616 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:88766616G>A ENST00000497649.2 + 6 902 c.524G>A c.(523-525)aGa>aAa p.R175K MEPE_ENST00000560249.1_Missense_Mutation_p.R86K|MEPE_ENST00000424957.3_Missense_Mutation_p.R199K|MEPE_ENST00000395102.4_Missense_Mutation_p.R230K|MEPE_ENST00000361056.3_Missense_Mutation_p.R199K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.R86K Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 199 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AAGCCTCAAAGAGATTCCCAA 0.368000 17 28 0 0 1 0 0 USP8 9101 broad.mit.edu 37 15 50782595 50782595 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:50782595C>T ENST00000433963.1 + 15 2607 c.2107C>T c.(2107-2109)Cct>Tct p.P703S USP8_ENST00000307179.4_Missense_Mutation_p.P703S|USP8_ENST00000396444.3_Missense_Mutation_p.P703S|USP8_ENST00000425032.3_Missense_Mutation_p.P597S NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 703 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) GCCACAGATTCCTGCTGAGCG 0.512000 36 46 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113403005 113403005 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:113403005C>T ENST00000297405.5 - 36 6066 c.5822G>A c.(5821-5823)gGa>gAa p.G1941E CSMD3_ENST00000352409.3_Missense_Mutation_p.G1871E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1901E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1837E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1941 CUB 11. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGTTAAAATTCCACCACAGGG 0.408000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 14 0 0 1 0 0 ADCYAP1 116 broad.mit.edu 37 18 905324 905324 + Translation_Start_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:905324G>A ENST00000579794.1 + 0 215 RP11-672L10.2_ENST00000581719.1_RNA|ADCYAP1_ENST00000450565.3_Intron|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 GCTTTTTGGGGTTGGAGGGTG 0.647000 11 17 0 0 1 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32917532 32917532 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:32917532C>T ENST00000374843.4 - 3 593 c.508G>A c.(508-510)Gga>Aga p.G170R HLA-DMA_ENST00000395305.3_Missense_Mutation_p.G75R|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.G136R|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron NM_006120.3 NP_006111.2 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM alpha 170 integral to membrane|MHC class II protein complex kidney(1)|large_intestine(2)|lung(8) 11 GGCCCAAATCCTTCCACAGGG 0.483000 13 30 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12735228 12735228 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:12735228G>A ENST00000380682.1 + 15 3156 c.2650G>A c.(2650-2652)Gaa>Aaa p.E884K NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 884 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CGTGTCAGAAGAACAGCAGAC 0.507000 22 26 0 0 1 0 0 CMTR1 23070 broad.mit.edu 37 6 37446927 37446927 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:37446927C>T ENST00000373451.4 + 23 2435 c.2271C>T c.(2269-2271)ccC>ccT p.P757P NM_015050.2 NP_055865.1 Q8N1G2 MTR1_HUMAN 757 Interaction with POLR2A.|WW. mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 CATCAGAGCCCTGGACTATGG 0.512000 10 33 0 0 1 0 0 TMTC3 160418 broad.mit.edu 37 12 88554546 88554546 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:88554546C>T ENST00000266712.6 + 6 935 c.715C>T c.(715-717)Ctc>Ttc p.L239F NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 239 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 ACTAGTAAAACTCATTGTCTT 0.378000 19 34 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23398035 23398035 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:23398035G>A ENST00000379361.4 + 2 1539 c.679G>A c.(679-681)Gag>Aag p.E227K NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 227 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CATGGTGGCTGAGAGGTGGGA 0.517000 70 112 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65253298 65253298 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:65253298G>A ENST00000389722.3 - 15 3438 c.3385C>T c.(3385-3387)Caa>Taa p.Q1129* SPTB_ENST00000556626.1_Nonsense_Mutation_p.Q1129*|SPTB_ENST00000389720.3_Nonsense_Mutation_p.Q1129*|SPTB_ENST00000542895.1_Nonsense_Mutation_p.Q1129*|SPTB_ENST00000389721.5_Nonsense_Mutation_p.Q1129* NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1129 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GTCTGGCCTTGGATCACTTTC 0.602000 23 24 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6599013 6599013 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:6599013C>T ENST00000285599.3 + 8 1267 c.1231C>T c.(1231-1233)Cgc>Tgc p.R411C MAN2B2_ENST00000504248.1_Missense_Mutation_p.R360C NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 411 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 CCAGCAGCTTCGCTGGGCCGT 0.632000 25 29 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435860 158435860 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:158435860C>T ENST00000289451.2 + 1 589 c.509C>T c.(508-510)tCc>tTc p.S170F NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) CCCTTCCACTCCTCCAACCAG 0.537000 44 98 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42718182 42718182 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:42718182C>T ENST00000230882.4 + 9 1094 c.904C>T c.(904-906)Cca>Tca p.P302S GHR_ENST00000357703.3_Missense_Mutation_p.P280S|GHR_ENST00000537449.1_Missense_Mutation_p.P115S|GHR_ENST00000513625.1_3'UTR NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 302 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GCCCCCAGTTCCAGTTCCAAA 0.318000 7 28 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41550196 41550196 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:41550196G>A ENST00000396942.1 - 31 3911 c.3828C>T c.(3826-3828)ttC>ttT p.F1276F ANK1_ENST00000379758.2_Silent_p.F1276F|ANK1_ENST00000396945.1_Silent_p.F1276F|ANK1_ENST00000347528.4_Silent_p.F1276F|ANK1_ENST00000289734.7_Silent_p.F1276F|ANK1_ENST00000265709.8_Silent_p.F1317F|ANK1_ENST00000352337.4_Silent_p.F1276F P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1276 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CCACCTCCACGAAGTTCTCAT 0.577000 143 201 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75227656 75227656 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:75227656G>A ENST00000342232.4 - 2 619 c.579C>T c.(577-579)ttC>ttT p.F193F NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 193 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) AGTTGAGCACGAAACCGCCGC 0.677000 11 29 0 0 1 0 0 ARHGAP4 393 broad.mit.edu 37 X 153186111 153186111 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:153186111G>A ENST00000370028.3 - 5 707 c.650C>T c.(649-651)tCc>tTc p.S217F ARHGAP4_ENST00000350060.5_Missense_Mutation_p.S217F|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.S196F|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.S194F NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 217 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTTCTTGAGGGAGCTCTTGCG 0.682000 15 17 0 0 1 0 0 AGT 183 broad.mit.edu 37 1 230846563 230846563 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:230846563G>A ENST00000366667.4 - 2 248 c.34C>T c.(34-36)Cct>Tct p.P12S RP11-99J16__A.2_ENST00000412344.1_RNA NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 12 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) ACACCGGCAGGAGCCATCTCA 0.562000 14 19 0 0 1 0 0 SUN2 25777 broad.mit.edu 37 22 39147369 39147369 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:39147369C>T ENST00000405510.1 - 4 490 c.132G>A c.(130-132)aaG>aaA p.K44K SUN2_ENST00000405018.1_Silent_p.K44K|SUN2_ENST00000406622.1_Silent_p.K44K|SUN2_ENST00000216064.4_Silent_p.K44K|SUN2_ENST00000411587.2_Silent_p.K79K NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 44 LMNA-binding (By similarity).|Ser-rich. centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 TGGATTTCCTCTTCAAGGTCC 0.612000 24 20 0 0 1 0 0 SF1 7536 broad.mit.edu 37 11 64533497 64533497 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:64533497G>A ENST00000377390.3 - 13 2050 c.1713C>T c.(1711-1713)ccC>ccT p.P571P SF1_ENST00000227503.9_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000377394.3_Intron|SF1_ENST00000433274.2_Silent_p.P545P|SF1_ENST00000422298.2_Intron|SF1_ENST00000334944.5_Silent_p.P571P NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 571 Pro-rich. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 GCTGGACCCCGGGGGGCAGGG 0.731000 11 15 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122042 12122042 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:12122042G>A ENST00000379388.2 + 4 2346 c.2014G>A c.(2014-2016)Gat>Aat p.D672N NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 672 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AGGAAGTACGGATTCTGGTTA 0.507000 9 20 0 0 1 0 0 BRMS1L 84312 broad.mit.edu 37 14 36300691 36300691 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:36300691C>T ENST00000216807.7 + 2 417 c.218C>T c.(217-219)aCc>aTc p.T73I BRMS1L_ENST00000543183.1_Missense_Mutation_p.T25I NM_032352.3 NP_115728.2 Q5PSV4 BRM1L_HUMAN breast cancer metastasis-suppressor 1-like 73 regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(36;0.137)|Hepatocellular(127;0.158) Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158) GBM - Glioblastoma multiforme(112;0.0333) AAACAGTTTACCGATCTCAAA 0.348000 8 11 0 0 1 0 0 COL13A1 1305 broad.mit.edu 37 10 71634912 71634912 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:71634912G>A ENST00000356340.3 + 4 964 c.428G>A c.(427-429)gGa>gAa p.G143E COL13A1_ENST00000398966.3_Missense_Mutation_p.G143E|COL13A1_ENST00000398972.3_Missense_Mutation_p.G143E|COL13A1_ENST00000354547.3_Missense_Mutation_p.G143E|COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000517713.1_Missense_Mutation_p.G143E|COL13A1_ENST00000357811.3_Missense_Mutation_p.G143E|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398973.3_Missense_Mutation_p.G143E|COL13A1_ENST00000398971.3_Missense_Mutation_p.G143E|COL13A1_ENST00000398968.3_Missense_Mutation_p.G143E|COL13A1_ENST00000398978.3_Missense_Mutation_p.G143E|COL13A1_ENST00000522165.1_Missense_Mutation_p.G143E Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 143 Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) GGGATGCCTGGACGTGTGGTG 0.547000 13 3 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73151406 73151406 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:73151406C>T ENST00000377110.2 - 25 4830 c.4587G>A c.(4585-4587)agG>agA p.R1529R TRPM3_ENST00000377105.1_Silent_p.R1388R|TRPM3_ENST00000377106.1_Silent_p.R1401R|TRPM3_ENST00000408909.2_Silent_p.R1388R|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000360823.2_Silent_p.R1391R|TRPM3_ENST00000396292.4_Silent_p.R1401R|TRPM3_ENST00000396285.1_Silent_p.R1388R|TRPM3_ENST00000357533.2_Silent_p.R1533R|TRPM3_ENST00000396280.5_Silent_p.R1378R|TRPM3_ENST00000358082.3_Silent_p.R1391R|TRPM3_ENST00000423814.3_Silent_p.R1556R NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1554 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CATAATAGCTCCTTGAGGGGG 0.448000 31 13 0 0 1 0 0 HSD3B7 80270 broad.mit.edu 37 16 30997973 30997973 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:30997973C>T ENST00000262520.6 + 5 769 c.479C>T c.(478-480)cCt>cTt p.P160L HSD3B7_ENST00000353250.5_Missense_Mutation_p.P160L|HSD3B7_ENST00000297679.5_Missense_Mutation_p.P160L NM_001142777.1 NP_001136249.1 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 160 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CACCCCTATCCTTGCAGCAAG 0.607000 24 39 0 0 1 0 0 NT5DC2 64943 broad.mit.edu 37 3 52562556 52562556 + Splice_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:52562556C>T ENST00000307076.4 - 5 838 c.e5-1 NT5DC2_ENST00000459839.1_Splice_Site|NT5DC2_ENST00000422318.2_Splice_Site|NT5DC2_ENST00000307092.4_Splice_Site NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) CTGGAGGCCCCTGAGCAGGCC 0.597000 15 23 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20795139 20795139 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:20795139G>A ENST00000404938.2 + 28 4318 c.3666G>A c.(3664-3666)ttG>ttA p.L1222L ABCB5_ENST00000258738.6_Silent_p.L777L NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 777 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 ACGCAGATTTGATAGTGGTTC 0.453000 11 18 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44890669 44890669 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:44890669G>A ENST00000330997.4 - 4 1802 c.1738C>T c.(1738-1740)Cat>Tat p.H580Y ZNF285_ENST00000591679.1_Missense_Mutation_p.H587Y|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.H580Y NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 AGTCTTTGATGAGTCAGAAGG 0.413000 16 41 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160738735 160738735 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:160738735C>T ENST00000263636.4 - 7 1173 c.1146G>A c.(1144-1146)tgG>tgA p.W382* LY75_ENST00000553424.1_Nonsense_Mutation_p.W382*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.W382*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.W382*|LY75_ENST00000554112.1_Nonsense_Mutation_p.W382* NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) GTGCCTTATCCCAGGAATTAC 0.453000 28 14 0 0 1 0 0 CERS6 253782 broad.mit.edu 37 2 169571592 169571592 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:169571592G>A ENST00000305747.6 + 7 1278 c.691G>A c.(691-693)Gga>Aga p.G231R CERS6_ENST00000392687.4_Missense_Mutation_p.G231R NM_203463.2 NP_982288.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 231 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GGCCCGAGTAGGAACGCTGGT 0.378000 32 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063547 9063547 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:9063547T>C ENST00000397910.4 - 3 24102 c.23899A>G c.(23899-23901)Aaa>Gaa p.K7967E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7969 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 GGTCTAGTTTTTTCCAGAAGG 0.468000 13 19 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73738533 73738533 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:73738533G>A ENST00000200181.3 + 24 2932 c.2745G>A c.(2743-2745)aaG>aaA p.K915K ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.K915K|ITGB4_ENST00000449880.2_Silent_p.K915K|ITGB4_ENST00000579662.1_Silent_p.K915K|ITGB4_ENST00000339591.3_Silent_p.K915K NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 915 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) ACGACCTCAAGGTGGCCCCCG 0.662000 10 11 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222301232 222301232 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:222301232G>A ENST00000281821.2 - 13 2274 c.2233C>T c.(2233-2235)Cgt>Tgt p.R745C EPHA4_ENST00000392071.4_Missense_Mutation_p.R694C|EPHA4_ENST00000409938.1_Missense_Mutation_p.R745C|EPHA4_ENST00000409854.1_Missense_Mutation_p.R745C NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 745 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GCCAGATCACGATGCACATAG 0.493000 25 11 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131569139 131569139 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:131569139C>T ENST00000261654.5 + 15 2161 c.1602C>T c.(1600-1602)ctC>ctT p.L534L GPR133_ENST00000376682.4_Silent_p.L220L|GPR133_ENST00000543617.1_Silent_p.L53L|GPR133_ENST00000535015.1_Silent_p.L566L NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 534 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GAGGAAACCTCACCTACTCCG 0.622000 24 38 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70896023 70896023 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:70896023C>T ENST00000393567.2 - 69 11855 c.11705G>A c.(11704-11706)gGg>gAg p.G3902E NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3902 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTGAATCTTCCCCACCGGCAC 0.547000 8 12 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57642615 57642615 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:57642615G>A ENST00000254181.4 + 4 3026 c.2572G>A c.(2572-2574)Gat>Aat p.D858N USP29_ENST00000598197.1_Missense_Mutation_p.D858N NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 858 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CACATACAACGATCTATGTGT 0.453000 7 15 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91295039 91295039 + Silent SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:91295039T>C ENST00000355112.3 + 4 940 c.822T>C c.(820-822)aaT>aaC p.N274N BLM_ENST00000560509.1_Silent_p.N274N NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 274 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) AGAAGAAGAATTTGGAAGAAG 0.333000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 6 23 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61568606 61568606 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:61568606G>A ENST00000577647.1 + 8 1099 c.1054G>A c.(1054-1056)Gat>Aat p.D352N ACE_ENST00000490216.2_Missense_Mutation_p.D352N|ACE_ENST00000413513.3_Missense_Mutation_p.D352N|ACE_ENST00000290863.6_Missense_Mutation_p.D352N|ACE_ENST00000421982.2_Missense_Mutation_p.D172N|ACE_ENST00000290866.4_Missense_Mutation_p.D926N|ACE_ENST00000428043.1_Missense_Mutation_p.D926N P12821 ACE_HUMAN angiotensin I converting enzyme 926 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGAGGCTGATGATTTCTTCAC 0.632000 29 26 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7915258 7915258 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:7915258G>A ENST00000378789.3 - 2 213 c.162C>T c.(160-162)ctC>ctT p.L54L NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 54 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CAACATTCCGGAGCATCCTTG 0.403000 13 21 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142625877 142625877 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:142625877C>T ENST00000265310.1 - 6 1019 c.671G>A c.(670-672)gGa>gAa p.G224E TRPV5_ENST00000442623.1_Missense_Mutation_p.G224E NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 224 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GTCCCCATGTCCATCGTAGGA 0.567000 20 31 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28422225 28422225 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:28422225G>A ENST00000261609.7 - 61 9411 c.9303C>T c.(9301-9303)atC>atT p.I3101I NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3101 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CGATATCCCGGATACGCTTGG 0.567000 9 30 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32631485 32631485 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:32631485G>A ENST00000242310.4 - 1 4182 c.4093C>T c.(4093-4095)Cct>Tct p.P1365S NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1365 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGCTGTTTAGGAAACTTGAGA 0.438000 49 55 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50250648 50250648 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:50250648C>T ENST00000246801.3 - 5 743 c.661G>A c.(661-663)Gag>Aag p.E221K NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 221 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GCCCTTACCTCCAGCAGGGCA 0.557000 4 33 0 0 1 0 0 PRR19 284338 broad.mit.edu 37 19 42814736 42814736 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:42814736C>T ENST00000499536.2 + 2 1726 c.915C>T c.(913-915)ctC>ctT p.L305L PRR19_ENST00000341747.3_Silent_p.L305L|PRR19_ENST00000598490.1_3'UTR A6NJB7 PRR19_HUMAN proline rich 19 305 Pro-rich. NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) GGGTTGGCCTCCCTCAGCCCC 0.657000 59 75 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237880599 237880599 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:237880599C>T ENST00000366574.2 + 72 10742 c.10425C>T c.(10423-10425)ccC>ccT p.P3475P RYR2_ENST00000542537.1_Silent_p.P3459P|RYR2_ENST00000360064.6_Silent_p.P3473P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3475 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGTTACTGCCCATTGGGTTGA 0.493000 4 16 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 3 47 0 0 1 0 0 ZNF20 7568 broad.mit.edu 37 19 12246706 12246706 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:12246706G>A ENST00000334213.5 - 2 241 c.17C>T c.(16-18)tCa>tTa p.S6L ZNF20_ENST00000600335.1_Missense_Mutation_p.S3L|ZNF20_ENST00000485451.1_5'UTR|ZNF625-ZNF20_ENST00000430024.1_3'UTR NM_001203250.1|NM_021143.3 NP_001190179.1|NP_066966.2 P17024 ZNF20_HUMAN zinc finger protein 20 6 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|lung(6) 8 AAAGGCCACTGAATCCTGAAA 0.468000 8 20 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647244 20647244 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:20647244G>A ENST00000272233.4 + 1 410 c.18G>A c.(16-18)aaG>aaA p.K6K NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 6 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) CCATCCGCAAGAAGCTGGTGG 0.706000 17 7 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13776692 13776692 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:13776692G>A ENST00000265104.4 - 55 9333 c.9229C>T c.(9229-9231)Cgg>Tgg p.R3077W NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3077 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGTCGGACCCGACTCATGAAG 0.463000 Kartagener syndrome 18 36 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43572121 43572121 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:43572121C>T ENST00000452443.2 - 10 1384 c.1380G>A c.(1378-1380)atG>atA p.M460I NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 460 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.M460I(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GAGAAGCCTTCATGAAGACAG 0.587000 27 46 0 0 1 0 0 SNX29P2 440352 broad.mit.edu 37 16 29376178 29376178 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:29376178G>A ENST00000398878.3 + 0 1606 SNX29P2_ENST00000507381.1_RNA GTCCGCCTTTGAAAGCCCCTT 0.507000 13 21 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8384476 8384476 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:8384476G>A ENST00000471889.1 + 2 472 c.87G>A c.(85-87)acG>acA p.T29T SLC45A1_ENST00000377479.2_Silent_p.T63T|SLC45A1_ENST00000289877.8_Silent_p.T29T Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 29 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CCCAGGTCACGGGCTACTCGG 0.667000 37 49 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60419818 60419818 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:60419818C>T ENST00000360469.5 + 5 759 c.671C>T c.(670-672)tCc>tTc p.S224F CDH4_ENST00000543233.1_Missense_Mutation_p.S150F NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 224 Cadherin 1. adherens junction organization|cell junction assembly calcium ion binding p.S224C(1) NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) AGCATTGACTCCATGTCCGGC 0.617000 29 21 0 0 1 0 0 CIDEA 1149 broad.mit.edu 37 18 12277250 12277250 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:12277250G>A ENST00000320477.9 + 5 706 c.641G>A c.(640-642)gGc>gAc p.G214D CIDEA_ENST00000521296.1_3'UTR NM_001279.3 NP_001270.1 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a 214 DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 CAAGCCAAGGGCAGGTTCACG 0.542000 19 24 0 0 1 0 0 RSPH1 89765 broad.mit.edu 37 21 43896020 43896020 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr21:43896020C>T ENST00000291536.3 - 8 1032 c.865G>A c.(865-867)Gac>Aac p.D289N RSPH1_ENST00000398352.3_Missense_Mutation_p.D251N NM_080860.2 NP_543136.1 Q8WYR4 RSPH1_HUMAN radial spoke head 1 homolog (Chlamydomonas) 289 meiosis cytosol|nucleus large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 TCATCCATGTCATAGCGGAAC 0.622000 10 13 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231751 7231751 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:7231751C>T ENST00000383467.2 + 1 629 c.615C>T c.(613-615)atC>atT p.I205I NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 205 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 CTGAGAGCATCCAGCACCTGG 0.562000 14 32 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55541857 55541857 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:55541857C>T ENST00000220676.1 + 4 5563 c.5415C>T c.(5413-5415)ctC>ctT p.L1805L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1805 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CTTCAGAACTCGAGGAACTGA 0.443000 6 6 0 0 1 0 0 ADH4 127 broad.mit.edu 37 4 100062756 100062756 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:100062756G>A ENST00000508393.1 - 4 420 c.255C>T c.(253-255)atC>atT p.I85I ADH4_ENST00000423445.1_Silent_p.I85I|ADH4_ENST00000265512.7_Silent_p.I66I|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Silent_p.I85I P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 66 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) CATGGCCAACGATCACTGGGA 0.428000 15 14 0 0 1 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22784242 22784242 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:22784242G>A ENST00000600260.1 + 0 676 NR_033899.1 GGAAGGTACGGGAGATCACTC 0.597000 9 5 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201009205 201009205 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:201009205C>T ENST00000362061.3 - 44 5602 c.5376G>A c.(5374-5376)ctG>ctA p.L1792L CACNA1S_ENST00000367338.3_Silent_p.L1773L|RP11-168O16.2_ENST00000415359.1_RNA NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1792 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCCCTCGAACCAGAGCCTGCA 0.622000 17 25 0 0 1 0 0 SIGLECL1 284369 broad.mit.edu 37 19 51768743 51768743 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:51768743G>A ENST00000316401.7 + 3 525 c.144G>A c.(142-144)gtG>gtA p.V48V SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron NM_173635.1 NP_775906.1 SIGLEC family like 1 CCGTGGGTGTGGATGGCATGG 0.577000 15 17 0 0 1 0 0 CRYBB1 1414 broad.mit.edu 37 22 27012113 27012113 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:27012113C>T ENST00000215939.2 - 2 301 c.171G>A c.(169-171)ggG>ggA p.G57G NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 57 N-terminal arm. visual perception structural constituent of eye lens breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 CCCTGTAGTTCCCAGGAGGCA 0.617000 17 23 0 0 1 0 0 NAA10 8260 broad.mit.edu 37 X 153197787 153197787 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:153197787G>A ENST00000464845.1 - 5 641 c.323C>T c.(322-324)tCc>tTc p.S108F NAA10_ENST00000370009.1_Missense_Mutation_p.S108F|NAA10_ENST00000370015.4_Missense_Mutation_p.S108F|NAA10_ENST00000393712.3_Missense_Mutation_p.S108F|NAA10_ENST00000393710.3_5'UTR NM_001256120.1|NM_003491.3 NP_001243049.1|NP_003482.1 P41227 NAA10_HUMAN N(alpha)-acetyltransferase 10, NatA catalytic subunit 108 N-acetyltransferase. DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1) 10 GACATGCAGGGAGACATATTT 0.582000 12 16 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233225830 233225830 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:233225830C>T ENST00000258229.8 - 23 4287 c.4053G>A c.(4051-4053)gtG>gtA p.V1351V NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1351 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CCCAGAATTTCACTGGCCTGA 0.423000 8 21 0 0 1 0 0 NGLY1 55768 broad.mit.edu 37 3 25781175 25781175 + Missense_Mutation SNP C C A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:25781175C>A ENST00000428257.1 - 5 881 c.774G>T c.(772-774)agG>agT p.R258S NGLY1_ENST00000422724.2_Intron|NGLY1_ENST00000417874.2_Missense_Mutation_p.R216S|NGLY1_ENST00000280700.5_Missense_Mutation_p.R258S|NGLY1_ENST00000396649.3_Missense_Mutation_p.R258S NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 258 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 TATCTCTAGACCTAGTCTGTC 0.433000 28 49 0.000227799 0.000228475 1 1 0 SCML2 10389 broad.mit.edu 37 X 18323267 18323267 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:18323267G>A ENST00000251900.4 - 7 714 c.555C>T c.(553-555)aaC>aaT p.N185N NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 185 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) TGAGATACGGGTTCTTTTTGT 0.383000 58 77 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076306 9076306 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:9076306G>A ENST00000397910.4 - 3 11343 c.11140C>T c.(11140-11142)Cat>Tat p.H3714Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3715 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 GTACTAGCATGATCTGTAGAA 0.458000 26 37 0 0 1 0 0 ASPG 374569 broad.mit.edu 37 14 104570642 104570642 + Splice_Site SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:104570642T>C ENST00000551177.1 + 8 847 c.753_splice c.e8-1 p.V252_splice ASPG_ENST00000455920.2_Splice_Site_p.V252_splice|ASPG_ENST00000546892.2_Splice_Site_p.V252_splice NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 252 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 GCCCCACAGGTTCGGGCCTTC 0.672000 4 15 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48919741 48919741 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:48919741G>A ENST00000310194.1 + 1 327 c.327G>A c.(325-327)ggG>ggA p.G109G OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 TCACTGCAGGGACTGAAGCCT 0.522000 14 31 0 0 1 0 0 VPS39 23339 broad.mit.edu 37 15 42455830 42455830 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:42455830G>A ENST00000318006.5 - 20 2285 c.2123C>T c.(2122-2124)gCt>gTt p.A708V VPS39_ENST00000348544.4_Missense_Mutation_p.A719V NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 719 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) TTACTCCTCAGCCATCCTTGT 0.493000 3 6 0 0 1 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140763701 140763701 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140763701G>A ENST00000518325.1 + 1 1235 c.1235G>A c.(1234-1236)cGg>cAg p.R412Q PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACTTGGACCGGGAAACACTC 0.413000 8 7 0 0 1 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247204 142247204 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:142247204G>A ENST00000390361.3 - 0 301 TGACTGCAAAGAACCGATCGT 0.567000 12 39 0 0 1 0 0 PDX1 3651 broad.mit.edu 37 13 28498678 28498678 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:28498678C>T ENST00000381033.4 + 2 811 c.692C>T c.(691-693)tCc>tTc p.S231F NM_000209.3 NP_000200.1 P52945 PDX1_HUMAN pancreatic and duodenal homeobox 1 231 detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation nucleus sequence-specific DNA binding transcription factor activity all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) GCCGTGACCTCCGGCGAGGAG 0.756000 7 4 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52520473 52520473 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:52520473C>T ENST00000216286.5 - 5 1252 c.1253G>A c.(1252-1254)gGa>gAa p.G418E NID2_ENST00000541773.1_Missense_Mutation_p.G365E NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 418 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CTGGATGCTTCCGTTTTCGGG 0.557000 17 40 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584857 179584857 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:179584857C>T ENST00000589042.1 - 81 23736 c.23512G>A c.(23512-23514)Gag>Aag p.E7838K TTN_ENST00000591111.1_Missense_Mutation_p.E7521K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6594K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7521 Ig-like 60. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTCACTCTCTCTGATGACT 0.438000 17 4 0 0 1 0 0 ABHD17A 81926 broad.mit.edu 37 19 1881266 1881266 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:1881266G>A ENST00000292577.7 - 2 733 c.300C>T c.(298-300)tcC>tcT p.S100S ABHD17A_ENST00000590661.1_Silent_p.S100S|ABHD17A_ENST00000250974.9_Silent_p.S100S NM_001130111.1 NP_001123583.1 abhydrolase domain containing 17A CATACATGCAGGAGACGCGGT 0.667000 12 33 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8784469 8784469 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:8784469C>T ENST00000359865.3 + 6 1501 c.1359C>T c.(1357-1359)taC>taT p.Y453Y SOGA2_ENST00000306329.11_Silent_p.Y813Y|SOGA2_ENST00000517570.1_Silent_p.Y453Y|SOGA2_ENST00000400050.3_Silent_p.Y453Y|SOGA2_ENST00000306285.7_5'UTR NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 804 ACTCTGAGTACCTAGTGACCC 0.642000 50 85 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137302 40137302 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:40137302C>T ENST00000278198.2 - 2 2504 c.541G>A c.(541-543)Gaa>Aaa p.E181K LRRC4C_ENST00000530763.1_Missense_Mutation_p.E181K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E181K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E181K Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 181 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CTTTTCAATTCCCCTAAGTCT 0.438000 17 31 0 0 1 0 0 PPP6R1 22870 broad.mit.edu 37 19 55741983 55741983 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:55741983G>A ENST00000412770.2 - 23 3206 c.2640C>T c.(2638-2640)tcC>tcT p.S880S PPP6R1_ENST00000587283.1_Silent_p.S880S NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 880 regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 ACACTCACTGGGAGCCTGGGG 0.657000 7 15 0 0 1 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737457 62737457 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:62737457C>T ENST00000369768.1 - 1 1067 c.728G>A c.(727-729)cGg>cAg p.R243Q NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 243 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) AGAGCGGAGCCGCACGGCCCG 0.667000 6 13 0 0 1 0 0 CD53 963 broad.mit.edu 37 1 111434995 111434995 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:111434995G>A ENST00000271324.5 + 3 204 c.92G>A c.(91-93)gGg>gAg p.G31E CD53_ENST00000429072.2_Missense_Mutation_p.G31E NM_000560.3|NM_001040033.1 NP_000551.1|NP_001035122.1 P19397 CD53_HUMAN CD53 molecule 31 signal transduction integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 17 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) TTGGGCTTTGGGATCTACCTG 0.483000 23 40 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20295725 20295725 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:20295725C>T ENST00000315947.1 + 1 118 c.118C>T c.(118-120)Cct>Tct p.P40S OR4N2_ENST00000568211.1_Missense_Mutation_p.P40S NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATCATCCTCCCTGGAAATTT 0.438000 50 246 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763549 77763549 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:77763549C>T ENST00000521891.2 + 10 4840 c.4392C>T c.(4390-4392)ccC>ccT p.P1464P ZFHX4_ENST00000518282.1_Silent_p.P1438P|ZFHX4_ENST00000050961.6_Silent_p.P1419P|ZFHX4_ENST00000455469.2_Silent_p.P1419P NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1419 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1464P(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCTCCTTGCCCGTGAATGGAG 0.507000 HNSCC(33;0.089) 4 13 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072481 17072481 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:17072481C>T ENST00000359963.3 - 1 1219 c.960G>A c.(958-960)tgG>tgA p.W320* NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 320 W -> R (in dbSNP:rs2236639). cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGATCTCCATCCAAGACCTAG 0.567000 56 72 0 0 1 0 0 SFXN3 81855 broad.mit.edu 37 10 102799292 102799292 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:102799292C>T ENST00000393459.1 + 12 1389 c.916C>T c.(916-918)Cat>Tat p.H306Y SFXN3_ENST00000466982.1_3'UTR|SFXN3_ENST00000224807.5_Missense_Mutation_p.H310Y Q9BWM7 SFXN3_HUMAN sideroflexin 3 310 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) AGCTCAGATCCATGAGCAAAA 0.537000 38 16 0 0 1 0 0 SLC2A4RG 56731 broad.mit.edu 37 20 62373342 62373342 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:62373342C>T ENST00000266077.2 + 4 564 c.512C>T c.(511-513)cCg>cTg p.P171L SLC2A4RG_ENST00000493772.1_Intron NM_020062.3 NP_064446.2 Q9NR83 S2A4R_HUMAN SLC2A4 regulator 171 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1) 7 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CCGTCCACCCCGTCACCCCCA 0.682000 11 25 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3425305 3425305 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:3425305G>A ENST00000336727.3 + 13 4075 c.3171G>A c.(3169-3171)acG>acA p.T1057T RGS12_ENST00000382788.3_Silent_p.T1057T|RGS12_ENST00000344733.5_Silent_p.T1057T|RGS12_ENST00000338806.4_Silent_p.T409T|RGS12_ENST00000538395.1_Silent_p.T399T|RGS12_ENST00000306648.7_Silent_p.T455T|RGS12_ENST00000508158.1_3'UTR NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1057 RBD 2. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGCCCGTCACGGAGGTGCTGC 0.622000 11 23 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236143954 236143954 + Splice_Site SNP C C T rs142491705 by1000genomes TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:236143954C>T ENST00000264187.6 - 17 3310 c.e17-1 NID1_ENST00000366595.3_Splice_Site NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GTAAAGGTTCCTGGAGGAGGA 0.433000 4 11 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144874824 144874824 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:144874824G>A ENST00000369359.4 - 33 5230 c.5192C>T c.(5191-5193)tCc>tTc p.S1731F PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1551F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1595F|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1731F|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1595F Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1595 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATGGCTGCTGGAGGGTGTGAG 0.592000 T PDGFRB MPD 17 89 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110908998 110908998 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:110908998G>A ENST00000265171.5 + 17 3035 c.2590G>A c.(2590-2592)Gat>Aat p.D864N EGF_ENST00000509793.1_Missense_Mutation_p.D822N|EGF_ENST00000503392.1_Missense_Mutation_p.D864N NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 864 EGF-like 6. angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) ATTTGCTGGGGATGGAAAACT 0.423000 15 32 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062171 76062171 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:76062171G>A ENST00000260045.3 - 5 2128 c.2023C>T c.(2023-2025)Cct>Tct p.P675S NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 675 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 TACACATTAGGAAAAAACTTG 0.428000 19 29 0 0 1 0 0 LHX6 26468 broad.mit.edu 37 9 124979378 124979378 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:124979378C>T ENST00000394319.4 - 5 755 c.651G>A c.(649-651)atG>atA p.M217I LHX6_ENST00000559895.1_Start_Codon_SNP_p.M1I|LHX6_ENST00000373755.2_Missense_Mutation_p.M188I|LHX6_ENST00000340587.3_Missense_Mutation_p.M217I|LHX6_ENST00000373754.2_Missense_Mutation_p.M188I|LHX6_ENST00000541397.2_Missense_Mutation_p.M206I NM_014368.4 NP_055183.2 Q9UPM6 LHX6_HUMAN LIM homeobox 6 188 cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5) 8 GGTTCTCAATCATGGTGTCGT 0.652000 25 15 0 0 1 0 0 KRT32 3882 broad.mit.edu 37 17 39619290 39619290 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:39619290C>T ENST00000225899.3 - 6 1112 c.1009G>A c.(1009-1011)Gaa>Aaa p.E337K NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 337 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) AGCGTGTTTTCCAGGGAGTCC 0.557000 17 41 0 0 1 0 0 CRMP1 1400 broad.mit.edu 37 4 5853183 5853183 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:5853183G>A ENST00000324989.7 - 5 922 c.834C>T c.(832-834)ttC>ttT p.F278F CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.F162F|CRMP1_ENST00000397890.2_Silent_p.F164F NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 164 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) TGTAGACTTGGAAGGAATTGA 0.443000 35 63 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560697 44560697 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:44560697C>T ENST00000332567.4 - 1 1291 c.939G>A c.(937-939)tcG>tcA p.S313S KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 313 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TCTTCTTGTTCGAGTGACTGT 0.617000 50 86 0 0 1 0 0 NPTXR 23467 broad.mit.edu 37 22 39218696 39218696 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:39218696G>A ENST00000333039.2 - 5 1544 c.1421C>T c.(1420-1422)cCc>cTc p.P474L NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor 474 Pentaxin. integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) GTCTTCCCAGGGAAGGACGTT 0.617000 6 40 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38357368 38357368 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:38357368C>T ENST00000379705.3 - 2 960 c.103G>A c.(103-105)Gcc>Acc p.A35T TRPC4_ENST00000379681.3_Missense_Mutation_p.A35T|TRPC4_ENST00000358477.2_Missense_Mutation_p.A35T|TRPC4_ENST00000447043.1_Missense_Mutation_p.A35T|TRPC4_ENST00000355779.2_Missense_Mutation_p.A35T|TRPC4_ENST00000338947.5_Missense_Mutation_p.A35T|TRPC4_ENST00000426868.2_Missense_Mutation_p.A35T|TRPC4_ENST00000379673.2_Missense_Mutation_p.A35T|TRPC4_ENST00000379679.1_Missense_Mutation_p.A35T Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 35 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTCAAGTAGGCTTTTTCTGAT 0.383000 34 135 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076535 57076535 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:57076535G>A ENST00000532437.1 - 5 3961 c.3650C>T c.(3649-3651)cCg>cTg p.P1217L TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1217L Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1217 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GATTCCCCCCGGCTCTTCAGA 0.592000 91 133 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262982 140262982 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140262982C>T ENST00000289272.2 + 1 1129 c.1129C>T c.(1129-1131)Cgt>Tgt p.R377C PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R377C|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTCCGATCGTGACTCTGG 0.507000 31 53 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55782690 55782690 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:55782690C>T ENST00000373965.2 - 20 2903 c.2509G>A c.(2509-2511)Gag>Aag p.E837K PCDH15_ENST00000395432.2_Missense_Mutation_p.E793K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E808K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E830K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E830K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.E835K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E441K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E830K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E830K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E830K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.E837K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E759K|PCDH15_ENST00000395446.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 830 Cadherin 8. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GGCAAATTCTCTTCAACAAGG 0.408000 HNSCC(58;0.16) 26 12 0 0 1 0 0 PAK4 10298 broad.mit.edu 37 19 39664327 39664327 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:39664327C>T ENST00000599386.1 + 4 497 c.316C>T c.(316-318)Cct>Tct p.P106S PAK4_ENST00000360442.3_Missense_Mutation_p.P259S|PAK4_ENST00000321944.4_Missense_Mutation_p.P169S|PAK4_ENST00000358301.3_Missense_Mutation_p.P259S|PAK4_ENST00000593690.1_Missense_Mutation_p.P259S|PAK4_ENST00000435673.2_Missense_Mutation_p.P259S|PAK4_ENST00000599470.1_Missense_Mutation_p.P106S NM_001014835.1 NP_001014835.1 O96013 PAK4_HUMAN p21 protein (Cdc42/Rac)-activated kinase 4 259 Linker. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) TGCCCCCAGCCCTGGAGTGCT 0.761000 3 4 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77817214 77817214 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:77817214C>T ENST00000334306.2 - 1 1788 c.1789G>A c.(1789-1791)Gag>Aag p.E597K NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 597 CACTCATGCTCCCTGGCATCT 0.567000 20 23 0 0 1 0 0 CA2 760 broad.mit.edu 37 8 86377599 86377599 + Missense_Mutation SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:86377599A>G ENST00000285379.5 + 2 363 c.133A>G c.(133-135)Aag>Gag p.K45E NM_000067.2 NP_000058.1 P00918 CAH2_HUMAN carbonic anhydrase II 45 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CCCTTCCCTGAAGCCCCTGTC 0.517000 15 25 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 21992636 21992636 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:21992636C>T ENST00000327430.3 - 2 1520 c.1226G>A c.(1225-1227)cGt>cAt p.R409H SALL2_ENST00000450879.2_Missense_Mutation_p.R272H|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 409 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R409H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) GGTGGTAAAACGGTTTCCACA 0.537000 16 20 0 0 1 0 0 RQCD1 9125 broad.mit.edu 37 2 219447744 219447744 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:219447744C>T ENST00000273064.6 + 3 630 c.255C>T c.(253-255)caC>caT p.H85H RQCD1_ENST00000295701.5_Silent_p.H85H|RQCD1_ENST00000542068.1_Silent_p.H85H|RQCD1_ENST00000509807.2_Silent_p.H85H NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 85 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGACAGCACACCAGTCTAACA 0.383000 19 11 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78202140 78202140 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:78202140G>A ENST00000535157.1 + 26 1731 c.1561G>A c.(1561-1563)Gga>Aga p.G521R SCEL_ENST00000377246.3_Missense_Mutation_p.G543R|SCEL_ENST00000349847.3_Missense_Mutation_p.G563R NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 563 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) AAACAAGAATGGAAGGTAAAG 0.234000 10 32 0 0 1 0 0 PARP11 57097 broad.mit.edu 37 12 3921430 3921430 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:3921430G>A ENST00000228820.4 - 8 1020 c.876C>T c.(874-876)tcC>tcT p.S292S PARP11_ENST00000476985.1_Intron|PARP11_ENST00000427057.2_Silent_p.S211S|PARP11_ENST00000397096.2_Intron|PARP11_ENST00000447133.3_Silent_p.S211S NM_020367.4 NP_065100.2 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 285 PARP catalytic. NAD+ ADP-ribosyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 17 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) GCATGTATTTGGAGTCTCCGT 0.408000 26 21 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823753 38823753 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:38823753C>T ENST00000303592.3 - 2 643 c.385G>A c.(385-387)Gtg>Atg p.V129M NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 129 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) TGCGTCTCCACCGAGAACAGG 0.692000 33 75 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28659935 28659935 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:28659935G>A ENST00000280904.6 - 11 1984 c.1541C>T c.(1540-1542)cCa>cTa p.P514L DSC2_ENST00000251081.6_Missense_Mutation_p.P514L NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 514 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CCACCCTGTTGGATCAGTTAA 0.289000 32 61 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55943312 55943312 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:55943312G>A ENST00000373965.2 - 14 1897 c.1503C>T c.(1501-1503)atC>atT p.I501I PCDH15_ENST00000395432.2_Silent_p.I457I|PCDH15_ENST00000395433.1_Silent_p.I472I|PCDH15_ENST00000373955.1_Silent_p.I494I|PCDH15_ENST00000361849.3_Silent_p.I494I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Silent_p.I499I|PCDH15_ENST00000409834.1_Silent_p.I105I|PCDH15_ENST00000320301.6_Silent_p.I494I|PCDH15_ENST00000373957.3_Silent_p.I472I|PCDH15_ENST00000395438.1_Silent_p.I494I|PCDH15_ENST00000395430.1_Silent_p.I494I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Silent_p.I501I|PCDH15_ENST00000437009.1_Silent_p.I494I|PCDH15_ENST00000395446.1_Silent_p.I494I NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 494 Cadherin 4. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GAATATTGACGATGACTGGCT 0.393000 HNSCC(58;0.16) 18 7 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881145 228881145 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:228881145G>A ENST00000392056.3 - 7 4471 c.4425C>T c.(4423-4425)gcC>gcT p.A1475A SPHKAP_ENST00000344657.5_Silent_p.A1475A NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1475 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) AAGCGCTCACGGCTGTGTCTC 0.463000 30 15 0 0 1 0 0 CDK7 1022 broad.mit.edu 37 5 68572406 68572406 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:68572406C>T ENST00000502604.1 + 10 1112 c.622C>T c.(622-624)Cca>Tca p.P208S CDK7_ENST00000514676.1_Missense_Mutation_p.P264S|CDK7_ENST00000256443.3_Missense_Mutation_p.P301S P50613 CDK7_HUMAN cyclin-dependent kinase 7 301 Protein kinase. androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex|mitochondrion androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity endometrium(1)|lung(2) 3 Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185) TCGGCCAGGGCCAACACCTGG 0.403000 Nucleotide excision repair (NER) 14 21 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164777775 164777775 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:164777775C>T ENST00000264382.3 - 10 1123 c.1061G>A c.(1060-1062)gGa>gAa p.G354E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 354 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) TAGTTGGAATCCAAGATTCCA 0.343000 HNSCC(35;0.089) 42 58 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137727454 137727454 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:137727454C>T ENST00000314358.5 + 8 2333 c.2133C>T c.(2131-2133)acC>acT p.T711T KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Silent_p.T367T NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 711 Ser-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 CAGCTCTTACCAGTGGGGGCC 0.557000 14 44 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1645433 1645433 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:1645433G>A ENST00000421627.2 + 11 2811 c.2677G>A c.(2677-2679)Gac>Aac p.D893N NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 972 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GCGGCTCAACGACTGGAAGAT 0.607000 20 33 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77693917 77693917 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:77693917G>A ENST00000461745.1 + 25 4897 c.3997G>A c.(3997-3999)Gga>Aga p.G1333R ROBO2_ENST00000487694.3_Missense_Mutation_p.G1349R|ROBO2_ENST00000332191.8_Missense_Mutation_p.G1394R NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1333 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CAGCTCATCAGGAACAGCTTC 0.498000 15 28 0 0 1 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100002657 100002657 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:100002657C>T ENST00000398027.2 - 13 1477 c.1230G>A c.(1228-1230)gaG>gaA p.E410E ZCWPW1_ENST00000324725.6_Silent_p.E290E|ZCWPW1_ENST00000360951.4_Silent_p.E411E|ZCWPW1_ENST00000490721.1_Silent_p.E290E NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 410 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCTGTTCTGCCTCTTGAGCCA 0.463000 47 67 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2427956 2427956 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:2427956G>A ENST00000452833.1 - 21 3200 c.3192C>T c.(3190-3192)ttC>ttT p.F1064F TRPM5_ENST00000155858.6_Silent_p.F1062F|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000528453.1_Silent_p.F1062F|TRPM5_ENST00000533060.1_Silent_p.F1062F Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 1062 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) TCTTGCTCAGGAAGTTCTCCT 0.617000 19 56 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10443871 10443871 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:10443871C>T ENST00000397077.1 - 6 1134 c.559G>A c.(559-561)Gag>Aag p.E187K ATP2B2_ENST00000383800.4_Missense_Mutation_p.E187K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E187K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E187K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E187K Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 187 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 TGTTCCTGCTCGATGCGGCTC 0.572000 68 112 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326071 152326071 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:152326071C>T ENST00000388718.5 - 3 4263 c.4191G>A c.(4189-4191)gaG>gaA p.E1397E FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1397 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCAGTGGCCTCTCCTGTCT 0.507000 52 106 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37730433 37730433 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:37730433G>A ENST00000330843.4 - 4 1899 c.1887C>T c.(1885-1887)ccC>ccT p.P629P RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 629 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TAGGGAGCAAGGGTGGTCCTT 0.517000 22 38 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22951144 22951144 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:22951144C>T ENST00000397104.3 - 3 251 c.252G>A c.(250-252)tgG>tgA p.W84* ZNF99_ENST00000596209.1_Nonsense_Mutation_p.W63* zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTTCATATTCCAAGGCTCTT 0.378000 7 15 0 0 1 0 0 TEX26 122046 broad.mit.edu 37 13 31540398 31540398 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:31540398G>A ENST00000380473.3 + 5 522 c.509G>A c.(508-510)tGg>tAg p.W170* TEX26_ENST00000530916.1_Intron NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 170 TCTCTGGAATGGAAAAAGTTA 0.398000 10 38 0 0 1 0 0 PITPNA 5306 broad.mit.edu 37 17 1444865 1444865 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:1444865C>T ENST00000313486.7 - 6 622 c.367G>A c.(367-369)Gag>Aag p.E123K PITPNA_ENST00000539476.1_Missense_Mutation_p.E123K NM_006224.3 NP_006215.1 Q00169 PIPNA_HUMAN phosphatidylinositol transfer protein, alpha 123 axon guidance|lipid metabolic process|visual perception cytoplasm phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.0845) CTCACATTCTCCTGCGTGCCA 0.468000 13 5 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179577814 179577814 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:179577814C>T ENST00000589042.1 - 93 27271 c.27047G>A c.(27046-27048)aGa>aAa p.R9016K TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R8699K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R7772K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8699 Ig-like 73. 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) AAACTGACCTCTCACAGTCAA 0.348000 10 3 0 0 1 0 0 PAGE5 90737 broad.mit.edu 37 X 55249119 55249119 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:55249119G>A ENST00000289619.5 + 4 561 c.316G>A c.(316-318)Ggt>Agt p.G106S PAGE5_ENST00000374955.3_Missense_Mutation_p.G86S|PAGE5_ENST00000374952.1_Missense_Mutation_p.G69S NM_130467.3 NP_569734.2 Q96GU1 GGEE1_HUMAN P antigen family, member 5 (prostate associated) 106 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 ACCTGGAGATGGTCCTGATGT 0.413000 31 55 0 0 1 0 0 ARRDC2 27106 broad.mit.edu 37 19 18121020 18121020 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:18121020C>T ENST00000222250.4 + 6 1008 c.865C>T c.(865-867)Cca>Tca p.P289S ARRDC2_ENST00000379656.2_Missense_Mutation_p.P284S NM_015683.1 NP_056498.1 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 289 endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1) 12 TGTGGATATCCCAGGAACGTC 0.637000 25 33 0 0 1 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151214996 151214996 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:151214996C>T ENST00000409426.1 + 13 2002 c.1557C>T c.(1555-1557)ccC>ccT p.P519P PIP5K1A_ENST00000368888.4_Silent_p.P531P|PIP5K1A_ENST00000368890.4_Silent_p.P469P|PIP5K1A_ENST00000441902.2_Silent_p.P491P|PIP5K1A_ENST00000414290.2_Intron Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 531 phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) TTCCTGACCCCAGTTTCTCAC 0.448000 19 37 0 0 1 0 0 ZNF211 10520 broad.mit.edu 37 19 58152153 58152153 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:58152153C>T ENST00000544273.1 + 5 662 c.335C>T c.(334-336)tCc>tTc p.S112F ZNF211_ENST00000347302.3_Missense_Mutation_p.S100F|ZNF211_ENST00000299871.5_Missense_Mutation_p.S165F|ZNF211_ENST00000391703.3_Missense_Mutation_p.S39F|ZNF211_ENST00000420680.1_Missense_Mutation_p.S104F|ZNF211_ENST00000254182.7_Missense_Mutation_p.S91F|ZNF211_ENST00000541801.1_Missense_Mutation_p.S91F|ZNF211_ENST00000240731.4_Missense_Mutation_p.S113F Q13398 ZN211_HUMAN zinc finger protein 211 100 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTCAGGACTTCCAAAGAAGGT 0.438000 12 14 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24309303 24309303 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:24309303A>T ENST00000357002.4 + 4 616 c.501A>T c.(499-501)ttA>ttT p.L167F ZNF254_ENST00000342944.6_Missense_Mutation_p.L82F NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 167 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATAAATTTTTAAATTCAAACA 0.294000 15 27 0 0 1 0 0 RARRES1 5918 broad.mit.edu 37 3 158415517 158415517 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:158415517C>T ENST00000237696.5 - 6 1115 c.835G>A c.(835-837)Gga>Aga p.G279R NM_206963.1 NP_996846.1 P49788 TIG1_HUMAN retinoic acid receptor responder (tazarotene induced) 1 279 negative regulation of cell proliferation integral to membrane NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) Tretinoin(DB00755) TCTTCAGTTCCGGAGGCTTCT 0.413000 17 36 0 0 1 0 0 IL17RE 132014 broad.mit.edu 37 3 9952711 9952711 + Missense_Mutation SNP G G A rs138199794 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:9952711G>A ENST00000454190.2 + 9 1050 c.965G>A c.(964-966)cGa>cAa p.R322Q IL17RE_ENST00000421412.1_Missense_Mutation_p.R355Q|IL17RE_ENST00000295980.3_Missense_Mutation_p.R322Q|IL17RE_ENST00000383814.3_Missense_Mutation_p.R322Q NM_001193380.1 NP_001180309.1 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E 322 cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) GCCACAGCTCGAGAGTCAGAT 0.612000 11 28 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121383805 121383805 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:121383805C>T ENST00000260197.7 + 7 1162 c.1033C>T c.(1033-1035)Cct>Tct p.P345S SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 345 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CACAAGACATCCTATTAATGT 0.522000 18 21 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18376908 18376908 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:18376908G>A ENST00000392413.3 - 3 1657 c.1442C>T c.(1441-1443)tCc>tTc p.S481F KIAA1683_ENST00000600328.2_Missense_Mutation_p.S481F|KIAA1683_ENST00000600359.2_Missense_Mutation_p.S435F NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 481 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GCTCCTCTGGGATGAAGTCTT 0.602000 25 40 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56243633 56243633 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:56243633C>T ENST00000332836.2 - 2 1591 c.1564G>A c.(1564-1566)Gaa>Aaa p.E522K NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 522 cytoplasm ATP binding p.E522K(1) NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TGGGTTATTTCCTGCTTTAGG 0.413000 30 33 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846142 47846142 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:47846142G>A ENST00000339488.4 - 3 2471 c.2438C>T c.(2437-2439)tCc>tTc p.S813F NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 813 integral to membrane hedgehog receptor activity GTGCTTTTTGGAAGGGGGGAA 0.448000 20 65 0 0 1 0 0 GATA5 140628 broad.mit.edu 37 20 61041534 61041534 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:61041534G>A ENST00000252997.2 - 4 834 c.773C>T c.(772-774)tCg>tTg p.S258L NM_080473.4 NP_536721.1 Q9BWX5 GATA5_HUMAN GATA binding protein 5 258 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) CTCCCCCTCCGAGTTCCGCCG 0.701000 3 5 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70953392 70953392 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:70953392G>A ENST00000334414.6 - 18 4489 c.4445C>T c.(4444-4446)cCc>cTc p.P1482L PTPRB_ENST00000550358.1_Missense_Mutation_p.P1394L|PTPRB_ENST00000538708.1_Missense_Mutation_p.P1174L|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1174L|PTPRB_ENST00000550857.1_Missense_Mutation_p.P1174L|PTPRB_ENST00000551525.1_Missense_Mutation_p.P1481L|PTPRB_ENST00000261266.5_Missense_Mutation_p.P1264L NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1264 Fibronectin type-III 17. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CATAAGACTGGGAGGACTTGG 0.448000 15 22 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30025312 30025312 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:30025312G>A ENST00000346128.6 - 13 2196 c.1722C>T c.(1720-1722)atC>atT p.I574I TJP1_ENST00000400011.2_Silent_p.I578I|TJP1_ENST00000545208.2_Silent_p.I574I|TJP1_ENST00000356107.6_Silent_p.I574I NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 574 SH3. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TCTTATTAGGGATGATGCCTC 0.388000 11 26 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75078449 75078449 + Missense_Mutation SNP T T G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:75078449T>G ENST00000326665.5 - 9 1263 c.1045A>C c.(1045-1047)Agt>Cgt p.S349R RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S152R NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 349 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 AAGGTGAGACTGAAGGGGAAA 0.428000 9 18 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2951926 2951926 + Silent SNP G G A rs148497800 by1000genomes TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:2951926G>A ENST00000396946.4 - 23 3427 c.3024C>T c.(3022-3024)atC>atT p.I1008I NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1008 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CTCTTGTGACGATATCTGCAG 0.582000 Mis DLBCL 13 17 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117122291 117122291 + Missense_Mutation SNP C C G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:117122291C>G ENST00000369486.3 - 10 3822 c.3057G>C c.(3055-3057)gaG>gaC p.E1019D IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D|IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 1019 Ig-like C2-type 8. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) cgtcgtcgtcctcctcctcct 0.637000 3 13 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62045514 62045514 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:62045514C>T ENST00000435607.1 - 6 981 c.905G>A c.(904-906)gGc>gAc p.G302D SCN4A_ENST00000578147.1_Missense_Mutation_p.G302D NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 302 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TGTGTCATTGCCGTACCACGT 0.557000 4 166 0 0 1 0 0 FOXR1 283150 broad.mit.edu 37 11 118850182 118850182 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:118850182G>A ENST00000317011.3 + 4 640 c.415G>A c.(415-417)Gaa>Aaa p.E139K NM_181721.2 NP_859072.1 Q6PIV2 FOXR1_HUMAN forkhead box R1 139 embryo development|organ development|pattern specification process|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 NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) TGAGGACCAGGAAGACAGCTC 0.622000 16 24 0 0 1 0 0 SLC25A12 8604 broad.mit.edu 37 2 172700881 172700881 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:172700881G>A ENST00000422440.2 - 5 500 c.463C>T c.(463-465)Cag>Tag p.Q155* SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Nonsense_Mutation_p.Q48* NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 155 EF-hand 3. gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) AAGCTCACCTGGAGAAACTGC 0.348000 23 6 0 0 1 0 0 DEGS2 123099 broad.mit.edu 37 14 100615479 100615479 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:100615479G>A ENST00000305631.5 - 2 1226 c.651C>T c.(649-651)ttC>ttT p.F217F DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR NM_206918.2 NP_996801.2 Q6QHC5 DEGS2_HUMAN delta(4)-desaturase, sphingolipid 2 217 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) CCAGGCCCAGGAAGGAGCTGG 0.637000 34 52 0 0 1 0 0 WNT6 7475 broad.mit.edu 37 2 219735749 219735749 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:219735749G>A ENST00000233948.3 + 2 298 c.80_splice c.e2-1 p.W27_splice WNT6_ENST00000486233.1_Intron NM_006522.3 NP_006513.1 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, member 6 27 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity large_intestine(1)|ovary(2)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGCTTTCCAGGGCTGTGGGCA 0.652000 48 21 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135431321 135431321 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:135431321C>T ENST00000394143.1 + 6 5747 c.5456C>T c.(5455-5457)tCa>tTa p.S1819L GPR112_ENST00000287534.4_Missense_Mutation_p.S1756L|GPR112_ENST00000412101.1_Missense_Mutation_p.S1614L|GPR112_ENST00000370652.1_Missense_Mutation_p.S1819L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1614L NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1819 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACCCCTGTTTCATACCCTCCA 0.403000 34 48 0 0 1 0 0 CCL11 6356 broad.mit.edu 37 17 32614654 32614654 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:32614654G>A ENST00000305869.3 + 3 380 c.239G>A c.(238-240)tGg>tAg p.W80* NM_002986.2 NP_002977.1 P51671 CCL11_HUMAN chemokine (C-C motif) ligand 11 80 cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction extracellular space chemokine activity breast(1)|lung(1)|prostate(1) 3 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) AAGAAGAAGTGGGTGCAGGAT 0.438000 6 16 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71050529 71050529 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:71050529C>T ENST00000283228.2 - 13 2287 c.1835G>A c.(1834-1836)gGa>gAa p.G612E PTPRR_ENST00000342084.4_Missense_Mutation_p.G500E|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000378778.1_Missense_Mutation_p.G406E|PTPRR_ENST00000440835.2_Missense_Mutation_p.G367E|PTPRR_ENST00000549308.1_Missense_Mutation_p.G367E NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 612 Tyrosine-protein phosphatase. 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) ATCCACAACTCCTTCTTCTTT 0.423000 24 42 0 0 1 0 0 RGS19 10287 broad.mit.edu 37 20 62705374 62705374 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:62705374C>T ENST00000395042.1 - 6 752 c.486G>A c.(484-486)cgG>cgA p.R162R RGS19_ENST00000332298.5_Silent_p.R162R NM_005873.2 NP_005864.1 P49795 RGS19_HUMAN regulator of G-protein signaling 19 162 RGS. autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction Golgi apparatus|membrane fraction|plasma membrane GTPase activator activity|protein binding|signal transducer activity lung(1)|prostate(1)|skin(1) 3 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) TGATGCCCTCCCGCACACGGG 0.662000 24 28 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27455916 27455916 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:27455916C>T ENST00000337929.3 + 6 1034 c.561C>T c.(559-561)ccC>ccT p.P187P IL21R_ENST00000395754.4_Silent_p.P187P|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Silent_p.P187P|IL21R_ENST00000564089.1_Silent_p.P187P NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 187 Fibronectin type-III. natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 CCCTCCTCCCCCTGGAGTTCC 0.597000 T BCL6 NHL 22 26 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141740641 141740641 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:141740641G>A ENST00000475668.2 + 21 2547 c.2493G>A c.(2491-2493)ctG>ctA p.L831L MGAM_ENST00000549489.2_Silent_p.L831L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 831 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CAACCACTCTGGCCAGGTATA 0.473000 12 23 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57430165 57430165 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:57430165C>T ENST00000306120.3 + 1 1655 c.1655C>T c.(1654-1656)cCt>cTt p.P552L GNAS_ENST00000371098.2_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371099.2_Silent_p.A615A|GNAS_ENST00000371100.4_Silent_p.A615A|GNAS_ENST00000371102.4_Silent_p.A615A|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TCGTGCAAGCCTTCGGGGGCT 0.622000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 13 16 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54676263 54676263 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:54676263C>T ENST00000474759.1 + 11 1210 c.1162C>T c.(1162-1164)Cga>Tga p.R388* CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.R388*|CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.R294*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.R388* NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 388 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TTGGCCAGATCGAAAGGTAAG 0.468000 8 5 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57528531 57528531 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:57528531G>A ENST00000420713.1 + 4 476 c.364G>A c.(364-366)Gat>Aat p.D122N NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TGGACAGGAGGATTTACAAGT 0.378000 11 19 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229265 140229265 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140229265C>T ENST00000378122.3 + 1 1909 c.1185C>T c.(1183-1185)ttC>ttT p.F395F PCDHA9_ENST00000532602.1_Silent_p.F395F|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGTCCCCTTCAAGCTGGTGT 0.587000 38 72 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133760068 133760068 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:133760068C>T ENST00000318560.5 + 11 2772 c.2391C>T c.(2389-2391)gtC>gtT p.V797V NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 797 Pro-rich. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CTGATGAGGTCTTCAAAGACA 0.637000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 4 2 0 0 1 0 0 ZFP2 80108 broad.mit.edu 37 5 178359140 178359140 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:178359140G>A ENST00000361362.2 + 5 1356 c.826G>A c.(826-828)Gga>Aga p.G276R ZFP2_ENST00000503510.2_Missense_Mutation_p.G276R|ZFP2_ENST00000520301.1_Missense_Mutation_p.G276R|ZFP2_ENST00000523286.1_Missense_Mutation_p.G276R NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TAGTCAATGTGGAAAAGCCTT 0.393000 13 39 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114136198 114136198 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:114136198C>T ENST00000356116.1 + 1 243 c.131C>T c.(130-132)cCc>cTc p.P44L ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000354273.4_5'UTR|ACSL5_ENST00000433418.1_5'UTR NM_016234.3 NP_057318.2 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 0 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) GATGCGGCCCCCTCGCAGGGT 0.602000 16 11 0 0 1 0 0 NUAK2 81788 broad.mit.edu 37 1 205272820 205272820 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:205272820G>A ENST00000367157.3 - 7 1771 c.1645C>T c.(1645-1647)Ctg>Ttg p.L549L NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 549 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) TCAGAGGACAGGATGCTGTCC 0.682000 29 33 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14861911 14861911 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:14861911G>A ENST00000285046.5 + 1 1443 c.1333G>A c.(1333-1335)Gga>Aga p.G445R FGD5_ENST00000543601.1_Missense_Mutation_p.G204R NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 445 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 CCCTGGAGAAGGAGGGCAGGC 0.622000 13 11 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80408655 80408655 + Missense_Mutation SNP C C T rs151071760 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:80408655C>T ENST00000265080.4 + 14 2132 c.2065C>T c.(2065-2067)Cct>Tct p.P689S NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 689 N-terminal Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ATACAAGAGGCCTTTCACCTC 0.493000 28 18 0 0 1 0 0 HID1 283987 broad.mit.edu 37 17 72950432 72950432 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:72950432G>A ENST00000425042.2 - 14 1742 c.1665C>T c.(1663-1665)atC>atT p.I555I NM_030630.2 NP_085133.1 HID1 domain containing TGCGCTTGCGGATGATGGCGT 0.677000 5 1 0 0 1 0 0 TMEM8C 389827 broad.mit.edu 37 9 136385356 136385356 + Missense_Mutation SNP C C T rs149158465 byFrequency TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:136385356C>T ENST00000339996.3 - 2 291 c.190G>A c.(190-192)Gac>Aac p.D64N TMEM8C_ENST00000413714.1_5'UTR NM_001080483.2 NP_001073952.1 A6NI61 TMM8C_HUMAN transmembrane protein 8C 64 integral to membrane NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4) 8 TCCAGGATGTCGTGACGCATG 0.577000 18 10 0 0 1 0 0 FBXO28 23219 broad.mit.edu 37 1 224345206 224345206 + Missense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:224345206G>T ENST00000366862.5 + 5 908 c.865G>T c.(865-867)Gtg>Ttg p.V289L FBXO28_ENST00000424254.2_3'UTR NM_015176.3 NP_055991.1 Q9NVF7 FBX28_HUMAN F-box protein 28 289 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1) 10 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) TCGCACCAAAGTGCAAGAACA 0.478000 42 62 4.32679e-17 4.41568e-17 1 1 0 PCDHA8 56140 broad.mit.edu 37 5 140222038 140222038 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140222038G>A ENST00000531613.1 + 1 1132 c.1132G>A c.(1132-1134)Gat>Aat p.D378N PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.D378N 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) GAACGACCTCGATTCAGGTGC 0.522000 56 86 0 0 1 0 0 P4HTM 54681 broad.mit.edu 37 3 49038932 49038932 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:49038932G>A ENST00000343546.4 + 3 866 c.498G>A c.(496-498)aaG>aaA p.K166K P4HTM_ENST00000383729.4_Silent_p.K166K|P4HTM_ENST00000468374.1_3'UTR NM_177938.2 NP_808807.2 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 166 endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) CGCAGATGAAGGGGTTACAGC 0.572000 14 16 0 0 1 0 0 DPF3 8110 broad.mit.edu 37 14 73137905 73137905 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:73137905G>A ENST00000541685.1 - 9 1025 c.1013C>T c.(1012-1014)tCc>tTc p.S338F DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Intron|DPF3_ENST00000546183.1_Missense_Mutation_p.S348F NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 169 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TCCTCGACAGGAGCGAGGCTC 0.572000 16 17 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162680617 162680617 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:162680617C>T ENST00000306100.5 - 6 1109 c.673G>A c.(673-675)Gat>Aat p.D225N FSTL5_ENST00000536695.1_Missense_Mutation_p.D224N|FSTL5_ENST00000379164.4_Missense_Mutation_p.D224N|FSTL5_ENST00000427802.2_Missense_Mutation_p.D224N NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 225 EF-hand 2. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTAAAATCATCATATTTCAAT 0.333000 14 25 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43930616 43930616 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:43930616C>T ENST00000262726.7 - 30 4438 c.4185G>A c.(4183-4185)aaG>aaA p.K1395K EFCAB6_ENST00000396231.2_Silent_p.K1243K|EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000461800.1_5'UTR NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1395 Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GTGAGCTTTCCTTTGCTTTTA 0.473000 24 34 0 0 1 0 0 IGHV3-43 28426 broad.mit.edu 37 14 106926339 106926339 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:106926339G>A ENST00000434710.1 - 0 282 ACTAATAAGAGAGACCCACTC 0.517000 45 105 0 0 1 0 0 DMRTC2 63946 broad.mit.edu 37 19 42354586 42354586 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:42354586C>T ENST00000596827.1 + 7 1048 c.962C>T c.(961-963)cCc>cTc p.P321L DMRTC2_ENST00000269945.3_Intron Q8IXT2 DMRTD_HUMAN DMRT-like family C2 275 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 TCTCCCTTTCCCTTGCAGGCC 0.607000 21 26 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92765048 92765048 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:92765048G>A ENST00000318238.4 - 5 1453 c.237C>T c.(235-237)tcC>tcT p.S79S SAMD9L_ENST00000437805.1_Silent_p.S79S|SAMD9L_ENST00000411955.1_Silent_p.S79S NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 79 SAM. 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) CACTTTCAGGGGACTTACTAT 0.393000 34 57 0 0 1 0 0 TGFB2 7042 broad.mit.edu 37 1 218578520 218578520 + Missense_Mutation SNP C C T rs149533093 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:218578520C>T ENST00000366929.4 + 3 907 c.440C>T c.(439-441)cCg>cTg p.P147L TGFB2_ENST00000366930.4_Missense_Mutation_p.P119L NM_001135599.2 NP_001129071.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 119 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) GATGCCATCCCGCCCACTTTC 0.398000 50 101 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590145 140590145 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140590145G>A ENST00000239450.2 + 1 1855 c.1666G>A c.(1666-1668)Gac>Aac p.D556N PCDHB12_ENST00000541609.1_Missense_Mutation_p.D219N NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 556 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.D556N(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACGCCAACGACAACTCGCC 0.711000 27 55 0 0 1 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64595920 64595920 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:64595920C>T ENST00000536360.1 - 10 2075 c.1262G>A c.(1261-1263)gGg>gAg p.G421E Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 421 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) ACCTTTCGTCCCACAAGAATT 0.393000 12 27 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103987 53103987 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:53103987G>A ENST00000408890.4 + 1 639 c.623G>A c.(622-624)cGg>cAg p.R208Q NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 208 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GGTGGCAGGCGGAACCTGCAG 0.667000 34 50 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218616 130218616 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:130218616G>A ENST00000276211.5 + 6 1110 c.765G>A c.(763-765)ggG>ggA p.G255G ARHGAP36_ENST00000370922.1_Silent_p.G243G|ARHGAP36_ENST00000370921.1_Silent_p.G119G NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 255 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GCGCAGTGGGGATTTTTACCC 0.488000 29 42 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62328306 62328306 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:62328306C>T ENST00000318100.4 + 36 4920 c.4093C>T c.(4093-4095)Ccg>Tcg p.P1365S RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.P1365S|TNFRSF6B_ENST00000369996.1_Silent_p.C62C Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 0 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) AGCGGCCGTGCCGCCGAGACA 0.682000 7 9 0 0 1 0 0 TRIM39 56658 broad.mit.edu 37 6 30309545 30309545 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:30309545C>T ENST00000376659.5 + 8 1574 c.976C>T c.(976-978)Cgt>Tgt p.R326C TRIM39_ENST00000540416.1_Missense_Mutation_p.R326C|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R238C|TRIM39_ENST00000376656.4_Missense_Mutation_p.R356C|TRIM39_ENST00000396547.1_Missense_Mutation_p.R356C|TRIM39_ENST00000396548.1_Missense_Mutation_p.R326C|TRIM39_ENST00000396551.3_Missense_Mutation_p.R326C NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 GTCAGAGGATCGTAAGAGCGT 0.562000 18 19 0 0 1 0 0 GP1BA 2811 broad.mit.edu 37 17 4836052 4836052 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:4836052C>T ENST00000329125.5 + 2 228 c.153C>T c.(151-153)atC>atT p.I51I NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 51 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 ACACAACCATCCTCCACCTGA 0.552000 39 25 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41306741 41306741 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:41306741C>T ENST00000373198.3 - 7 1153 c.918G>A c.(916-918)tgG>tgA p.W306* PTPRT_ENST00000373190.1_Nonsense_Mutation_p.W306*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.W306*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.W306*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.W306*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.W306*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.W306* NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 306 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TTGGCTTGATCCACAGGTATG 0.547000 12 17 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43577114 43577114 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:43577114G>A ENST00000452443.2 - 7 906 c.902C>T c.(901-903)tCc>tTc p.S301F NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 301 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) ACGGAAATTGGAAACAACACG 0.418000 14 31 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004663 74004663 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:74004663C>T ENST00000301607.3 - 22 4876 c.4623G>A c.(4621-4623)gaG>gaA p.E1541E EVPL_ENST00000586740.1_Silent_p.E1563E NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1541 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGTTGAGCATCTCCCACACGC 0.662000 10 30 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41684366 41684366 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:41684366G>A ENST00000313860.7 + 21 2636 c.2582G>A c.(2581-2583)gGa>gAa p.G861E LIMCH1_ENST00000512632.1_Missense_Mutation_p.G784E|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G694E|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G694E|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G701E|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G701E|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G873E|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G1245E|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G860E|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G706E|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G861E|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G714E NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 861 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 ATAGACCTGGGAAACTGTCAA 0.363000 3 15 0 0 1 0 0 BEGAIN 57596 broad.mit.edu 37 14 101010253 101010253 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:101010253G>A ENST00000556751.1 - 3 3505 c.101C>T c.(100-102)gCc>gTc p.A34V BEGAIN_ENST00000355173.2_Missense_Mutation_p.A98V|BEGAIN_ENST00000443071.2_Missense_Mutation_p.A98V Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 98 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GCTGTTGAGGGCAACAATCTC 0.617000 4 7 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83344332 83344332 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:83344332C>T ENST00000398309.2 - 14 2017 c.1547G>A c.(1546-1548)cGa>cAa p.R516Q DLG2_ENST00000531015.1_Missense_Mutation_p.R483Q|DLG2_ENST00000280241.8_Missense_Mutation_p.R555Q|DLG2_ENST00000398304.1_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.R270Q|DLG2_ENST00000330014.6_Missense_Mutation_p.R455Q|DLG2_ENST00000426717.2_5'UTR|DLG2_ENST00000543673.1_Missense_Mutation_p.R621Q|DLG2_ENST00000376104.2_Missense_Mutation_p.R621Q|DLG2_ENST00000530800.1_Missense_Mutation_p.R25Q|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000404783.3_5'UTR|DLG2_ENST00000532653.1_Missense_Mutation_p.R516Q|DLG2_ENST00000524982.1_Missense_Mutation_p.R516Q|DLG2_ENST00000418306.2_Missense_Mutation_p.R413Q NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 516 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CATCTGCTCTCGTAGGTCATG 0.488000 14 21 0 0 1 0 0 FAM114A1 92689 broad.mit.edu 37 4 38907396 38907396 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:38907396C>T ENST00000358869.2 + 6 747 c.571C>T c.(571-573)Cag>Tag p.Q191* FAM114A1_ENST00000515037.1_5'UTR NM_138389.2 NP_612398.2 Q8IWE2 NXP20_HUMAN family with sequence similarity 114, member A1 191 cytoplasm haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 20 AGCCACAGATCAGGGCCCTGC 0.483000 8 14 0 0 1 0 0 PHC1 1911 broad.mit.edu 37 12 9086545 9086545 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:9086545C>T ENST00000433083.2 + 8 1988 c.1843C>T c.(1843-1845)Cct>Tct p.P615S PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000544916.1_Missense_Mutation_p.P660S|PHC1_ENST00000543824.1_Missense_Mutation_p.P660S|PHC1_ENST00000536844.1_Missense_Mutation_p.P266S P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 660 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 TTCAATGCTTCCTGCCAAGGC 0.488000 4 15 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101970947 101970947 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:101970947G>A ENST00000543253.1 + 5 2069 c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K GPRASP2_ENST00000332262.5_Missense_Mutation_p.E384K|GPRASP2_ENST00000535209.1_Missense_Mutation_p.E384K NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 GTTTGAGGAGGAAGTCATTAT 0.502000 17 36 0 0 1 0 0 PSEN2 5664 broad.mit.edu 37 1 227077815 227077815 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:227077815C>T ENST00000366782.1 + 9 1466 c.966C>T c.(964-966)ttC>ttT p.F322F PSEN2_ENST00000391872.2_Silent_p.F322F|PSEN2_ENST00000472139.2_Silent_p.F145F|PSEN2_ENST00000422240.2_Silent_p.F289F|PSEN2_ENST00000340188.4_Intron|PSEN2_ENST00000366783.3_Silent_p.F289F P49810 PSN2_HUMAN presenilin 2 (Alzheimer disease 4) 289 amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1) 20 Prostate(94;0.0771) AGCCCATATTCCCTGCCCTGA 0.592000 25 44 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98205983 98205983 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:98205983C>T ENST00000370192.3 - 4 386 c.286G>A c.(286-288)Gat>Aat p.D96N DPYD_ENST00000306031.5_Missense_Mutation_p.D96N|DPYD_ENST00000423006.2_Missense_Mutation_p.D59N NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 96 4Fe-4S ferredoxin-type 1. 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GATTTAATATCAAGATTAGTT 0.323000 28 32 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29111179 29111179 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:29111179C>T ENST00000261590.8 + 9 1453 c.1244C>T c.(1243-1245)gCt>gTt p.A415V NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 415 Cadherin 4. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AATTTTCAAGCTTTTGATGAG 0.358000 29 34 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111470984 111470984 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:111470984G>A ENST00000265162.5 + 17 2785 c.2443G>A c.(2443-2445)Gaa>Aaa p.E815K NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 815 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ATTAGCTCAAGAAAAAGAAAA 0.363000 16 19 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21239339 21239339 + Missense_Mutation SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:21239339T>A ENST00000233242.1 - 21 3431 c.3304A>T c.(3304-3306)Act>Tct p.T1102S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1102 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCGACCTCAGTAATTTTCTTG 0.473000 12 7 0 0 1 0 0 OR3A4P 390756 broad.mit.edu 37 17 3214231 3214231 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:3214231G>A ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA CAGCTTTCATGGGTGTGGCCC 0.547000 28 10 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248603 20248603 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:20248603G>A ENST00000315957.4 + 1 203 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G41A(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCCTACCAGGAAATATCCTT 0.423000 47 209 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105912892 105912892 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:105912892A>T ENST00000393359.2 - 4 1385 c.959T>A c.(958-960)cTt>cAt p.L320H TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.L320H Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 320 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GCTTGCTAGAAGATCCTGTAT 0.408000 19 11 0 0 1 0 0 HLA-G 3135 broad.mit.edu 37 6 29796368 29796368 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:29796368G>A ENST00000428701.1 + 4 570 c.392G>A c.(391-393)gGa>gAa p.G131E HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000360323.6_Missense_Mutation_p.G131E|HLA-G_ENST00000376828.2_Missense_Mutation_p.G136E NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 131 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 GGGTCCGACGGACGCCTCCTC 0.682000 35 127 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150911612 150911612 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:150911612G>A ENST00000329903.4 + 6 670 c.637G>A c.(637-639)Gac>Aac p.D213N NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 213 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GAAACTGCGAGACAACTACAT 0.507000 13 28 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4512688 4512688 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:4512688G>A ENST00000301286.3 - 3 1241 c.1242C>T c.(1240-1242)atC>atT p.I414I NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 414 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 TACCTGTTGCGATATTTTGGG 0.557000 26 8 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52427426 52427426 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:52427426C>T ENST00000420323.2 + 66 10812 c.10551C>T c.(10549-10551)ctC>ctT p.L3517L NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3582 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCCGCAGCCTCTTTGAGAAGC 0.532000 17 29 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24924229 24924229 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:24924229G>A ENST00000329468.2 + 1 3689 c.3215G>A c.(3214-3216)gGg>gAg p.G1072E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.G1072E(1) GCACCACAAGGGGCTAGCAAC 0.542000 24 38 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215814034 215814034 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:215814034G>A ENST00000366943.2 - 68 15220 c.14834C>T c.(14833-14835)tCt>tTt p.S4945F USH2A_ENST00000307340.3_Missense_Mutation_p.S4945F O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4945 Fibronectin type-III 35. 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) ACACACCACAGACAAATTGCT 0.532000 HNSCC(13;0.011) 13 25 0 0 1 0 0 KNG1 3827 broad.mit.edu 37 3 186461545 186461545 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:186461545G>A ENST00000287611.2 + 11 1522 c.1255G>A c.(1255-1257)Gag>Aag p.E419K KNG1_ENST00000447445.1_Missense_Mutation_p.E383K|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA NM_000893.3 NP_000884.1 P01042 KNG1_HUMAN kininogen 1 410 blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) GGCAGGGGCAGAGCCAGCATC 0.502000 14 11 0 0 1 0 0 TPH1 7166 broad.mit.edu 37 11 18050736 18050736 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:18050736C>T ENST00000250018.2 - 5 1205 c.643G>A c.(643-645)Gaa>Aaa p.E215K TPH1_ENST00000341556.2_Missense_Mutation_p.E215K NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 215 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) GAGACATCTTCCAATTGTGGG 0.333000 29 42 0 0 1 0 0 OR11A1 26531 broad.mit.edu 37 6 29394885 29394885 + Silent SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:29394885A>G ENST00000377149.1 - 5 1006 c.534T>C c.(532-534)ttT>ttC p.F178F OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Silent_p.F178F|OR11A1_ENST00000377148.1_Silent_p.F178F Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 AGTCACAGTAAAACTGGTCAA 0.532000 11 37 0 0 1 0 0 OR11H6 122748 broad.mit.edu 37 14 20692216 20692216 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:20692216C>T ENST00000315519.2 + 1 426 c.348C>T c.(346-348)ttC>ttT p.F116F NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) CTGGTTGCTTCCTGCAATTCT 0.408000 32 52 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81176684 81176684 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:81176684C>T ENST00000394685.3 + 7 1205 c.786C>T c.(784-786)caC>caT p.H262H KIAA1199_ENST00000220244.3_Silent_p.H262H|KIAA1199_ENST00000356249.5_Silent_p.H262H Q8WUJ3 K1199_HUMAN KIAA1199 262 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 ACTTCCTGCACCTTGGATTTA 0.498000 18 13 0 0 1 0 0 MPP6 51678 broad.mit.edu 37 7 24703293 24703293 + Nonsense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:24703293G>T ENST00000396475.2 + 7 1035 c.736G>T c.(736-738)Gga>Tga p.G246* MPP6_ENST00000222644.4_Nonsense_Mutation_p.G246*|MPP6_ENST00000409761.1_Nonsense_Mutation_p.G134* NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 246 SH3. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 GTTTTCCAAAGGAGAGATTCT 0.343000 11 18 3.07112e-06 3.08757e-06 1 1 0 FGF10 2255 broad.mit.edu 37 5 44388621 44388621 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:44388621G>A ENST00000264664.4 - 1 278 c.164C>T c.(163-165)tCc>tTc p.S55F NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 55 Poly-Ser. actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) GGAGAAGGAGGAGGAAGAAGA 0.537000 12 21 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228481963 228481963 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:228481963G>A ENST00000570156.2 + 47 12603 c.12529G>A c.(12529-12531)Ggg>Agg p.G4177R OBSCN_ENST00000359599.6_Missense_Mutation_p.G2595R|OBSCN_ENST00000422127.1_Missense_Mutation_p.G3748R|OBSCN_ENST00000284548.11_Missense_Mutation_p.G3748R|OBSCN_ENST00000366707.4_Missense_Mutation_p.G867R|OBSCN_ENST00000366709.4_Missense_Mutation_p.G867R NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3220 Ig-like 43. 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) GTGGAGGAAGGGGCATGAGAC 0.627000 45 71 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10298675 10298675 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:10298675G>A ENST00000403437.2 - 34 4831 c.4737C>T c.(4735-4737)atC>atT p.I1579I CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1579 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCTTTTCTGCGATTTTTCTAT 0.418000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 17 7 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17221574 17221574 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:17221574G>A ENST00000261381.6 - 10 2256 c.2172C>T c.(2170-2172)gtC>gtT p.V724V NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 724 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 CGATCTTGAAGACTTTTTTCG 0.493000 57 83 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114111074 114111074 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:114111074C>T ENST00000297405.5 - 5 1072 c.828G>A c.(826-828)ggG>ggA p.G276G CSMD3_ENST00000352409.3_Silent_p.G276G|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Silent_p.G236G|CSMD3_ENST00000455883.2_Silent_p.G276G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 276 CUB 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAATTGTGTCCCCAGGCTCTG 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 3 14 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215586 20215586 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:20215586G>A ENST00000331723.1 + 1 0 c.e1-1 NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTCTTGGCTTGATGAAAAAAG 0.308000 15 42 0 0 1 0 0 RGAG4 340526 broad.mit.edu 37 X 71350022 71350022 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:71350022C>T ENST00000545866.1 - 1 1736 c.1369G>A c.(1369-1371)Gat>Aat p.D457N NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.D457N Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 457 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) TGGGCCTCATCCAGTGGCTCC 0.562000 32 45 0 0 1 0 0 CENPH 64946 broad.mit.edu 37 5 68504126 68504126 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:68504126C>T ENST00000283006.2 + 8 678 c.591C>T c.(589-591)atC>atT p.I197I CENPH_ENST00000515001.1_Silent_p.I178I NM_022909.3 NP_075060.1 Q9H3R5 CENPH_HUMAN centromere protein H 197 cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm kinetochore binding|protein binding kidney(15)|large_intestine(2)|lung(3) 20 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178) GGATAAAGATCATACGACAAA 0.313000 15 22 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121787235 121787235 + Missense_Mutation SNP G G A rs142050826 by1000genomes TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:121787235G>A ENST00000261367.7 + 12 4262 c.2834G>A c.(2833-2835)gGg>gAg p.G945E CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G532E|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G838E|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G500E|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_Missense_Mutation_p.G456E|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G898E|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G945E Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 898 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) ACCTCACTTGGGAGGAAGACA 0.438000 26 43 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2808668 2808668 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:2808668C>T ENST00000520002.1 - 67 10727 c.10172G>A c.(10171-10173)aGc>aAc p.S3391N CSMD1_ENST00000542608.1_Missense_Mutation_p.S3213N|CSMD1_ENST00000537824.1_Missense_Mutation_p.S3390N|CSMD1_ENST00000602723.1_Missense_Mutation_p.S3214N|CSMD1_ENST00000400186.3_Missense_Mutation_p.S3214N|CSMD1_ENST00000602557.1_Missense_Mutation_p.S3391N Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3391 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CGAGGCTTCGCTGAAGGTGGC 0.463000 4 7 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2566815 2566815 + Nonsense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:2566815A>T ENST00000399655.1 + 5 965 c.700A>T c.(700-702)Aag>Tag p.K234* CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.K234*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.K234* NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 234 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ATTTGATGTGAAGGCGCTGAG 0.547000 62 113 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152383387 152383387 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:152383387G>A ENST00000271835.3 - 3 233 c.171C>T c.(169-171)gtC>gtT p.V57V RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 57 EF-hand. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGACGCAGGACCTCATCCA 0.537000 17 39 0 0 1 0 0 RNF152 220441 broad.mit.edu 37 18 59483414 59483414 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:59483414G>A ENST00000312828.3 - 2 1382 c.283C>T c.(283-285)Ccc>Tcc p.P95S NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 95 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) CCATTGCTGGGAAGTTTGATG 0.647000 25 29 0 0 1 0 0 ATOH1 474 broad.mit.edu 37 4 94750453 94750453 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:94750453G>A ENST00000306011.3 + 1 412 c.376G>A c.(376-378)Gaa>Aaa p.E126K NM_005172.1 NP_005163.1 Q92858 ATOH1_HUMAN atonal homolog 1 (Drosophila) 126 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) GAAAGTGCGGGAACAGCTGTG 0.687000 14 18 0 0 1 0 0 ZNF449 203523 broad.mit.edu 37 X 134483138 134483138 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:134483138C>T ENST00000339249.4 + 3 598 c.458C>T c.(457-459)cCt>cTt p.P153L NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 153 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GTAATGGGACCTGCCCAGGAG 0.562000 52 71 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115818916 115818916 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:115818916C>T ENST00000374227.3 - 1 80 c.53G>A c.(52-54)cGg>cAg p.R18Q ZFP37_ENST00000553380.1_Missense_Mutation_p.R18Q|ZFP37_ENST00000555206.1_Missense_Mutation_p.R18Q Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 18 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ACTTCTCCTCCGGTCCACGGT 0.672000 46 21 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58580319 58580319 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:58580319C>T ENST00000317147.5 - 29 4244 c.3912G>A c.(3910-3912)aaG>aaA p.K1304K CNOT1_ENST00000569240.1_Silent_p.K1299K|CNOT1_ENST00000441024.2_Silent_p.K1304K|CNOT1_ENST00000245138.4_Silent_p.K155K NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1304 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) GATCTTTATCCTTTAGGAGGT 0.423000 16 24 0 0 1 0 0 EBAG9 9166 broad.mit.edu 37 8 110567014 110567014 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:110567014C>T ENST00000337573.5 + 4 519 c.219C>T c.(217-219)atC>atT p.I73I EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000531677.1_Silent_p.I73I|EBAG9_ENST00000395785.2_Silent_p.I73I NM_004215.3 NP_004206.1 O00559 RCAS1_HUMAN estrogen receptor binding site associated, antigen, 9 73 apoptosis|regulation of cell growth focal adhesion|Golgi membrane|integral to membrane|soluble fraction apoptotic protease activator activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2) 10 OV - Ovarian serous cystadenocarcinoma(57;1.39e-14) GTGTAAAGATCGAAGGAGGGA 0.408000 19 21 0 0 1 0 0 PVRL4 81607 broad.mit.edu 37 1 161042564 161042564 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:161042564G>A ENST00000368012.3 - 9 1722 c.1420C>T c.(1420-1422)Cag>Tag p.Q474* PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Nonsense_Mutation_p.Q183* NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 474 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CCTTCATCCTGATCTTCCTCC 0.582000 18 25 0 0 1 0 0 OR10A3 26496 broad.mit.edu 37 11 7960903 7960903 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:7960903G>A ENST00000360759.3 - 1 238 c.165C>T c.(163-165)ctC>ctT p.L55L NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGGGAACGTGGAGGCTCTGGT 0.488000 21 32 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26681952 26681952 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:26681952G>A ENST00000256737.3 + 27 3759 c.2907G>A c.(2905-2907)cgG>cgA p.R969R ANO3_ENST00000537978.1_Silent_p.R953R|ANO3_ENST00000531568.1_Silent_p.R823R|ANO3_ENST00000525139.1_Silent_p.R953R NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 969 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 AACAACAACGGAGAAAAAGTG 0.428000 21 31 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857077 9857077 + Missense_Mutation SNP G G A rs59975221 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:9857077G>A ENST00000396573.2 - 14 4633 c.4324C>T c.(4324-4326)Ccc>Tcc p.P1442S GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1442S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1442S|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000404927.2_3'UTR NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1442 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAAACCCTGGGGGTAGAGTAC 0.398000 16 16 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83932990 83932990 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:83932990G>A ENST00000345382.2 - 4 1098 c.1013C>T c.(1012-1014)tCc>tTc p.S338F RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.S331F NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 338 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 GGCCTCAGGGGATAACTGTGT 0.453000 23 39 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222414 140222414 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140222414C>T ENST00000531613.1 + 1 1508 c.1508C>T c.(1507-1509)tCg>tTg p.S503L PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S503L 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) GGCGAGCGCTCGCTGTCGAGC 0.667000 46 59 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53565956 53565956 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:53565956G>A ENST00000342160.3 - 75 12175 c.11718C>T c.(11716-11718)agC>agT p.S3906S HUWE1_ENST00000262854.6_Silent_p.S3906S Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3906 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GTGCCAGCTGGCTCTCACGGG 0.617000 13 6 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50149388 50149388 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:50149388C>T ENST00000360565.3 + 4 314 c.190C>T c.(190-192)Cga>Tga p.R64* NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 64 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TCATGGCCTTCGATGGCGGCG 0.617000 16 13 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10615110 10615110 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:10615110G>A ENST00000547195.1 - 16 2331 c.1831C>T c.(1831-1833)Cct>Tct p.P611S MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000421747.1_Missense_Mutation_p.P693S|MRVI1_ENST00000545852.1_Missense_Mutation_p.P387S|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000424001.1_Missense_Mutation_p.P387S|MRVI1_ENST00000423302.2_Missense_Mutation_p.P702S|MRVI1_ENST00000558540.1_Missense_Mutation_p.P387S|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000534266.2_Missense_Mutation_p.P387S|MRVI1_ENST00000541483.1_Missense_Mutation_p.P496S|MRVI1_ENST00000527509.2_Missense_Mutation_p.P611S|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000552103.1_Missense_Mutation_p.P611S|MRVI1_ENST00000436272.1_Missense_Mutation_p.P675S|MRVI1_ENST00000531107.1_Missense_Mutation_p.P694S NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 675 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TTAAACTTAGGAACCACAGCA 0.527000 12 28 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179569951 179569951 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:179569951G>A ENST00000589042.1 - 103 29778 c.29554C>T c.(29554-29556)Caa>Taa p.Q9852* TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q9535*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q8608* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9535 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) TCAAATGCTTGAAGAAGACCT 0.363000 21 13 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15770030 15770030 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:15770030G>A ENST00000221307.7 + 13 1446 c.1397_splice c.e13-1 p.R466_splice CYP4F3_ENST00000591058.1_Splice_Site_p.R466_splice|CYP4F3_ENST00000585846.1_Splice_Site_p.R466_splice|CYP4F3_ENST00000586182.1_Splice_Site_p.R466_splice NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 466 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CCTCCCCAAGGAACTGCATCG 0.662000 5 14 0 0 1 0 0 SLC22A2 6582 broad.mit.edu 37 6 160663398 160663398 + Missense_Mutation SNP C C T rs141405449 byFrequency TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:160663398C>T ENST00000366953.3 - 8 1574 c.1316G>A c.(1315-1317)gGa>gAa p.G439E SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 439 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) CCCCATTCTTCCCAAGCATGA 0.428000 22 12 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140984599 140984599 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:140984599C>T ENST00000544766.1 + 5 688 c.161C>T c.(160-162)tCc>tTc p.S54F MAGEC3_ENST00000536088.1_Missense_Mutation_p.S54F|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_Missense_Mutation_p.S54F|MAGEC3_ENST00000443323.2_Intron NM_177456.2 NP_803251.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 448 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) ttcccctcctcctcttccttg 0.517000 8 12 0 0 1 0 0 CFI 3426 broad.mit.edu 37 4 110673624 110673624 + Splice_Site SNP C C G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:110673624C>G ENST00000394634.2 - 8 1147 c.940_splice c.e8+1 p.E314_splice CFI_ENST00000512148.1_Splice_Site_p.E307_splice|CFI_ENST00000394635.3_Splice_Site_p.E322_splice NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 314 complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) GTTAGCTTACCTGCATCCATG 0.294000 17 17 0 0 1 0 0 RHAG 6005 broad.mit.edu 37 6 49604462 49604462 + Missense_Mutation SNP A A T rs139234886 byFrequency TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:49604462A>T ENST00000371175.4 - 1 90 c.64T>A c.(64-66)Tta>Ata p.L22I RHAG_ENST00000229810.7_Missense_Mutation_p.L22I NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 22 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) TCAACAAATAATCCAAATAAA 0.433000 27 51 0 0 1 0 0 NUGGC 389643 broad.mit.edu 37 8 27880861 27880861 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:27880861C>T ENST00000413272.2 - 19 2506 c.2364G>A c.(2362-2364)aaG>aaA p.K788K NUGGC_ENST00000341513.6_Silent_p.K788K NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated GGGGGCCAGCCTTGCTGGGGG 0.532000 10 18 0 0 1 0 0 STARD10 10809 broad.mit.edu 37 11 72468891 72468891 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:72468891G>A ENST00000334805.6 - 5 1417 c.498C>T c.(496-498)tcC>tcT p.S166S STARD10_ENST00000543304.1_Silent_p.S166S|STARD10_ENST00000538536.1_Silent_p.S120S|STARD10_ENST00000545082.1_Silent_p.S137S|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000538437.1_Intron NM_006645.2 NP_006636.2 Q9Y365 PCTL_HUMAN StAR-related lipid transfer (START) domain containing 10 166 START. endometrium(4)|large_intestine(1)|lung(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(5;7.08e-07) CCGTCTGGATGGACACAGCTC 0.597000 14 25 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98608864 98608864 + Silent SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:98608864T>C ENST00000359863.4 + 70 11295 c.11086T>C c.(11086-11088)Tta>Cta p.L3696L TRRAP_ENST00000446306.3_Silent_p.L3685L|TRRAP_ENST00000355540.3_Silent_p.L3667L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3696 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCCCGAGATGTTACAGATCGC 0.493000 27 55 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12315498 12315498 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:12315498G>A ENST00000256186.2 + 3 811 c.520G>A c.(520-522)Gag>Aag p.E174K NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 174 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) GCTGGTAAAGGAGAAGTTGGG 0.537000 24 24 0 0 1 0 0 HJURP 55355 broad.mit.edu 37 2 234750777 234750777 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:234750777G>A ENST00000411486.2 - 8 714 c.649C>T c.(649-651)Cct>Tct p.P217S HJURP_ENST00000441687.1_Missense_Mutation_p.P132S|HJURP_ENST00000432087.1_Missense_Mutation_p.P163S|HJURP_ENST00000434039.1_5'UTR NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 217 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) GGATGCAAAGGATCCCATTCT 0.493000 23 9 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121008416 121008416 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:121008416C>T ENST00000392793.1 + 11 3499 c.3228C>T c.(3226-3228)ccC>ccT p.P1076P TECTA_ENST00000264037.2_Silent_p.P1076P O75443 TECTA_HUMAN tectorin alpha 1076 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) AGACCATTCCCTGCAAGGATG 0.572000 9 27 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182363373 182363373 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:182363373G>A ENST00000397033.2 + 15 1994 c.1564G>A c.(1564-1566)Gat>Aat p.D522N NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 522 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) CATGAGTTTGGATGTGAACAG 0.333000 19 7 0 0 1 0 0 FKBP6 8468 broad.mit.edu 37 7 72743439 72743439 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:72743439G>A ENST00000252037.4 + 3 321 c.252G>A c.(250-252)atG>atA p.M84I FKBP6_ENST00000413573.2_Intron|FKBP6_ENST00000431982.2_Missense_Mutation_p.M79I NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 84 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) CTCGGCTAATGAAACTTGGAG 0.468000 27 39 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38881818 38881818 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:38881818C>T ENST00000274276.3 + 4 772 c.370C>T c.(370-372)Cct>Tct p.P124S OSMR_ENST00000502536.1_Missense_Mutation_p.P124S NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 124 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TGCCAAGTTCCCTGAGCCAAA 0.448000 12 26 0 0 1 0 0 JADE3 9767 broad.mit.edu 37 X 46918377 46918377 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:46918377G>A ENST00000218343.4 + 11 2668 c.2370G>A c.(2368-2370)agG>agA p.R790R PHF16_ENST00000397189.1_Silent_p.R790R NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 790 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 TCAGGGTAAGGAAAGATAGCT 0.458000 10 13 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167653129 167653129 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:167653129C>T ENST00000519204.1 + 23 4900 c.4782C>T c.(4780-4782)cgC>cgT p.R1594R TENM2_ENST00000403607.2_Silent_p.R1539R|TENM2_ENST00000518659.1_Silent_p.R1715R|TENM2_ENST00000545108.1_Silent_p.R1714R|TENM2_ENST00000520394.1_Silent_p.R1476R teneurin transmembrane protein 2 ACGTGACGCGCCCCACGGGGG 0.527000 5 9 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10348614 10348614 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:10348614C>T ENST00000255381.2 - 36 5345 c.5235G>A c.(5233-5235)atG>atA p.M1745I CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1745 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CGATGTCCTCCATCTCTCCCT 0.463000 26 14 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73044609 73044609 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:73044609C>T ENST00000604411.1 + 0 32570 XIST_ENST00000429829.1_lincRNA NR_003255.2 CTAGCTCTTTCCTGGTTACCT 0.328000 17 13 0 0 1 0 0 P2RY10 27334 broad.mit.edu 37 X 78216491 78216491 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:78216491C>T ENST00000171757.2 + 4 754 c.474C>T c.(472-474)atC>atT p.I158I P2RY10_ENST00000544091.1_Silent_p.I158I|P2RY10_ENST00000475374.1_3'UTR NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 158 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.I158I(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CCATCTGGATCGTTGTGGGGA 0.493000 30 33 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123847037 123847037 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:123847037C>T ENST00000369005.1 + 4 5362 c.5022C>T c.(5020-5022)gcC>gcT p.A1674A TACC2_ENST00000453444.2_Silent_p.A1674A|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.A1674A|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.A1674A|TACC2_ENST00000334433.3_Silent_p.A1674A NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1674 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGCGAAATGCCCTGGGCAACC 0.622000 15 5 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8384477 8384477 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:8384477G>A ENST00000471889.1 + 2 473 c.88G>A c.(88-90)Ggc>Agc p.G30S SLC45A1_ENST00000377479.2_Missense_Mutation_p.G64S|SLC45A1_ENST00000289877.8_Missense_Mutation_p.G30S Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 30 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGTCACGGGCTACTCGGG 0.667000 39 49 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115411593 115411593 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:115411593C>T ENST00000369358.4 - 7 888 c.644G>A c.(643-645)cGg>cAg p.R215Q NRAP_ENST00000360478.3_Missense_Mutation_p.R215Q|NRAP_ENST00000359988.3_Missense_Mutation_p.R215Q|NRAP_ENST00000369360.3_Missense_Mutation_p.R215Q Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 215 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) AGCCTTGCTCCGTAGCAGCTC 0.517000 10 8 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73483000 73483000 + Silent SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:73483000G>T ENST00000252034.7 + 33 2544 c.2145G>T c.(2143-2145)ctG>ctT p.L715L ELN_ENST00000357036.5_Silent_p.L702L|ELN_ENST00000458204.1_Silent_p.L705L|ELN_ENST00000429192.1_Silent_p.L683L|ELN_ENST00000380576.5_Silent_p.L696L|ELN_ENST00000414324.1_Silent_p.L691L|ELN_ENST00000380553.4_Silent_p.L561L|ELN_ENST00000380575.4_Silent_p.L668L|ELN_ENST00000358929.4_Silent_p.L783L|ELN_ENST00000320492.7_Silent_p.L634L|ELN_ENST00000320399.6_Silent_p.L748L|ELN_ENST00000380562.4_Silent_p.L721L|ELN_ENST00000380584.4_Silent_p.L649L|ELN_ENST00000445912.1_Silent_p.L697L NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 777 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) GGGCCTGCCTGGGGAAAGCTT 0.582000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 18 31 5.35267e-07 5.39097e-07 1 1 0 TTN 7273 broad.mit.edu 37 2 179615216 179615216 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:179615216G>A ENST00000360870.5 - 46 12133 c.11911C>T c.(11911-11913)Cct>Tct p.P3971S TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9787 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) ATAGGTTGAGGATATCCTTGA 0.358000 12 6 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171540486 171540486 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:171540486C>T ENST00000367742.3 + 24 6921 c.6679C>T c.(6679-6681)Cct>Tct p.P2227S PRRC2C_ENST00000426496.2_Intron|PRRC2C_ENST00000338920.4_Missense_Mutation_p.P2225S|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2227S Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 2225 protein C-terminus binding CCTTCCCCTCCCTAAGAGGGA 0.468000 8 16 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32698994 32698994 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:32698994G>A ENST00000380250.3 + 7 1194 c.698G>A c.(697-699)gGa>gAa p.G233E NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GAAGTCATTGGAGTGTTGGCA 0.473000 32 78 0 0 1 0 0 TMEM45A 55076 broad.mit.edu 37 3 100277365 100277365 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:100277365C>T ENST00000403410.1 + 6 1188 c.568C>T c.(568-570)Cgg>Tgg p.R190W TMEM45A_ENST00000323523.4_Missense_Mutation_p.R174W Q9NWC5 TM45A_HUMAN transmembrane protein 45A 174 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2) 11 GTTCCTTGTTCGGAACAATGT 0.512000 47 65 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 21 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8518223 8518223 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:8518223C>T ENST00000381196.4 - 18 1711 c.1168G>A c.(1168-1170)Gaa>Aaa p.E390K PTPRD_ENST00000486161.1_Missense_Mutation_p.E390K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E380K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E390K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E377K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E390K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E390K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E387K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E380K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E387K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E377K NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 390 Fibronectin type-III 1. 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) ACCCTGAATTCATAATCCGAG 0.507000 TSP Lung(15;0.13) 34 56 0 0 1 0 0 SLC29A4 222962 broad.mit.edu 37 7 5327602 5327602 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:5327602C>T ENST00000396872.2 + 2 316 c.155C>T c.(154-156)gCt>gTt p.A52V SLC29A4_ENST00000297195.4_Missense_Mutation_p.A52V|SLC29A4_ENST00000406453.3_Missense_Mutation_p.A52V NM_001040661.1|NM_153247.2 NP_001035751.1|NP_694979.2 Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 52 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GGCGTCCCAGCTTTCACGGAT 0.657000 7 11 0 0 1 0 0 KRT76 51350 broad.mit.edu 37 12 53164796 53164796 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:53164796C>T ENST00000332411.2 - 7 1524 c.1471G>A c.(1471-1473)Gga>Aga p.G491R NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 491 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 CACTCCTCTCCCTCCAGCAGC 0.542000 26 59 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175362997 175362997 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:175362997C>T ENST00000367674.1 - 6 1983 c.1275G>A c.(1273-1275)acG>acA p.T425T TNR_ENST00000263525.2_Silent_p.T425T NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 425 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.T425T(1) 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) TCTCTGTGATCGTCTTAAATT 0.498000 46 70 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141740594 141740594 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:141740594C>T ENST00000475668.2 + 21 2500 c.2446C>T c.(2446-2448)Cga>Tga p.R816* MGAM_ENST00000549489.2_Nonsense_Mutation_p.R816* O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 816 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACTTCACCTTCGAGGAGGCTA 0.468000 13 23 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87241946 87241946 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:87241946C>T ENST00000297524.3 - 1 664 c.561G>A c.(559-561)aaG>aaA p.K187K SLC7A13_ENST00000419776.2_Silent_p.K187K|SLC7A13_ENST00000520624.1_Intron NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 187 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 CTACATTCTCCTTTTTCCCTC 0.408000 21 39 0 0 1 0 0 KRT76 51350 broad.mit.edu 37 12 53170633 53170633 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:53170633G>A ENST00000332411.2 - 1 496 c.443C>T c.(442-444)cCt>cTt p.P148L NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 148 Head. 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 AAAGCCCCCAGGGCCAAAGcc 0.582000 13 16 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80655845 80655845 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:80655845G>A ENST00000458043.2 + 18 1965 c.1959G>A c.(1957-1959)gtG>gtA p.V653V OTOGL_ENST00000547103.1_Silent_p.V653V NM_173591.3 NP_775862.3 otogelin-like p.V653V(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TCCCAGTGGTGGACCCCTGTA 0.393000 13 30 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78598741 78598741 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:78598741A>T ENST00000397909.2 + 39 7034 c.6861A>T c.(6859-6861)gaA>gaT p.E2287D NAV3_ENST00000536525.2_Missense_Mutation_p.E2265D|NAV3_ENST00000228327.6_Missense_Mutation_p.E2265D|NAV3_ENST00000266692.7_Missense_Mutation_p.E2088D|NAV3_ENST00000541270.1_Missense_Mutation_p.E117D Q8IVL0 NAV3_HUMAN neuron navigator 3 2287 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CACCATGGGAAGATCCTTCAA 0.463000 HNSCC(70;0.22) 11 13 0 0 1 0 0 SNAP25 6616 broad.mit.edu 37 20 10280055 10280055 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:10280055G>A ENST00000254976.2 + 7 758 c.547G>A c.(547-549)Gag>Aag p.E183K SNAP25_ENST00000304886.2_Missense_Mutation_p.E183K|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA NM_130811.2 NP_570824.1 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 183 t-SNARE coiled-coil homology 2. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) CAGGATCATGGAGAAGGTGAG 0.522000 18 17 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10046892 10046892 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:10046892G>A ENST00000380861.4 + 4 665 c.274G>A c.(274-276)Gaa>Aaa p.E92K WWC3_ENST00000454666.1_Missense_Mutation_p.E92K NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 92 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 AATTAAAGCAGAAATAGCAAG 0.393000 39 58 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215848702 215848702 + Missense_Mutation SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:215848702T>A ENST00000366943.2 - 63 12937 c.12551A>T c.(12550-12552)aAa>aTa p.K4184I USH2A_ENST00000307340.3_Missense_Mutation_p.K4184I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4184 Fibronectin type-III 27. 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) GCGAATTATTTTTCCATTTGG 0.473000 HNSCC(13;0.011) 28 28 0 0 1 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12955399 12955399 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:12955399G>A ENST00000235347.4 - 2 359 c.280C>T c.(280-282)Cgc>Tgc p.R94C NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 94 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACCTGGGGCGAACCTTCTGG 0.607000 10 16 0 0 1 0 0 C6orf10 10665 broad.mit.edu 37 6 32334079 32334079 + Splice_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:32334079C>T ENST00000375015.4 - 5 367 c.166_splice c.e5-1 p.G56_splice C6orf10_ENST00000375007.4_Splice_Site_p.G56_splice|C6orf10_ENST00000447241.2_Splice_Site_p.G56_splice|C6orf10_ENST00000442822.2_Splice_Site_p.G56_splice|C6orf10_ENST00000527965.1_Splice_Site_p.G56_splice|C6orf10_ENST00000533191.1_Splice_Site_p.G56_splice Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 56 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 ATGTCGGGATCCTAAAAGAGA 0.264000 13 31 0 0 1 0 0 EIF4H 7458 broad.mit.edu 37 7 73604023 73604023 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:73604023G>A ENST00000265753.8 + 3 407 c.268G>A c.(268-270)Gat>Aat p.D90N EIF4H_ENST00000353999.6_Missense_Mutation_p.D90N|EIF4H_ENST00000495187.1_3'UTR NM_022170.1 NP_071496.1 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H 90 RRM. interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity endometrium(1)|lung(2)|prostate(1) 4 TGTAGAATTCGATGAAGTGGA 0.403000 14 21 0 0 1 0 0 AVIL 10677 broad.mit.edu 37 12 58197441 58197441 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:58197441C>T ENST00000537081.1 - 14 1661 c.1662G>A c.(1660-1662)ggG>ggA p.G554G TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_Intron|AVIL_ENST00000257861.3_Silent_p.G561G O75366 AVIL_HUMAN advillin 561 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) CCCGCTCATCCCCACTAGACC 0.572000 OREG0021955 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 12 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184041252 184041252 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:184041252C>T ENST00000342981.4 + 14 2562 c.2148C>T c.(2146-2148)atC>atT p.I716I EIF4G1_ENST00000427845.1_Silent_p.I629I|EIF4G1_ENST00000414031.1_Silent_p.I675I|EIF4G1_ENST00000441154.1_Silent_p.I552I|EIF4G1_ENST00000346169.2_Silent_p.I715I|EIF4G1_ENST00000350481.5_Silent_p.I551I|EIF4G1_ENST00000352767.3_Silent_p.I722I|EIF4G1_ENST00000411531.1_Silent_p.I676I|EIF4G1_ENST00000434061.2_Silent_p.I520I|EIF4G1_ENST00000424196.1_Silent_p.I722I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Silent_p.I722I|EIF4G1_ENST00000319274.6_Silent_p.I715I|EIF4G1_ENST00000435046.2_Silent_p.I519I|EIF4G1_ENST00000392537.2_Silent_p.I628I NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 715 MIF4G.|eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CACGCAAGATCATTGCCACAG 0.547000 51 94 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135430098 135430098 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:135430098G>A ENST00000394143.1 + 6 4524 c.4233G>A c.(4231-4233)caG>caA p.Q1411Q GPR112_ENST00000287534.4_Silent_p.Q1348Q|GPR112_ENST00000412101.1_Silent_p.Q1206Q|GPR112_ENST00000370652.1_Silent_p.Q1411Q|GPR112_ENST00000394141.1_Silent_p.Q1206Q NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1411 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CATATGGCCAGGATACTTCAT 0.423000 44 54 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82447616 82447616 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:82447616C>T ENST00000370728.1 + 21 3871 c.3226C>T c.(3226-3228)Cag>Tag p.Q1076* LPHN2_ENST00000394879.1_Nonsense_Mutation_p.Q1078*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.Q1076*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.Q1091*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.Q1091*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.Q1063*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.Q1076*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.Q1063*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.Q1001*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.Q1091*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.Q1063*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.Q1078*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.Q1063*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.Q1091* O95490 LPHN2_HUMAN latrophilin 2 1076 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TAATGCTTTCCAGGGAGTGTT 0.378000 22 40 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105113 168105113 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:168105113C>T ENST00000409195.1 + 9 7300 c.7211C>T c.(7210-7212)tCt>tTt p.S2404F XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2404F|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2182F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2229 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GCCTCGAACTCTCAGAATTCT 0.443000 24 4 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107417843 107417843 + Nonsense_Mutation SNP C C A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:107417843C>A ENST00000394872.2 - 31 3199 c.2968G>T c.(2968-2970)Gga>Tga p.G990* COL4A6_ENST00000545689.1_Nonsense_Mutation_p.G989*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.G989*|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.G989*|COL4A6_ENST00000372216.4_Nonsense_Mutation_p.G990* Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 990 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CCAGCCTCTCCTTTGTCACCT 0.542000 Alport syndrome with Diffuse Leiomyomatosis 6 23 0.00198382 0.00198735 1 1 0 COL27A1 85301 broad.mit.edu 37 9 117027741 117027741 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:117027741C>T ENST00000356083.3 + 32 3770 c.3379C>T c.(3379-3381)Ctc>Ttc p.L1127F NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1127 Collagen-like 9.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CACCAAGGGCCTCCCAGGAGA 0.612000 7 8 0 0 1 0 0 LYPLAL1 127018 broad.mit.edu 37 1 219347257 219347257 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:219347257C>T ENST00000366928.5 + 1 72 c.25C>T c.(25-27)Ctg>Ttg p.L9L RP11-135J2.4_ENST00000441331.1_RNA|LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Silent_p.L9L NM_138794.3 NP_620149.1 Q5VWZ2 LYPL1_HUMAN lysophospholipase-like 1 9 cytoplasm lysophospholipase activity large_intestine(1)|lung(5) 6 GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116) GGGGTCGGTTCTGCAGCGCTG 0.627000 9 27 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48388901 48388901 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:48388901C>T ENST00000224600.4 - 1 2090 c.1977G>A c.(1975-1977)caG>caA p.Q659Q NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 659 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGGCACTGGTCTGCCCCACGA 0.672000 16 9 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42174878 42174878 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:42174878C>T ENST00000320955.6 - 10 2178 c.1951G>A c.(1951-1953)Gag>Aag p.E651K NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 651 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CAGGCTTCCTCCTCCTCACAG 0.662000 9 3 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32480931 32480931 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:32480931G>A ENST00000266088.4 + 9 1180 c.930G>A c.(928-930)gtG>gtA p.V310V SLC5A1_ENST00000543737.1_Silent_p.V183V NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 310 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 TGTCTCACGTGAAGGGTGGCT 0.512000 26 40 0 0 1 0 0 PYROXD2 84795 broad.mit.edu 37 10 100152776 100152776 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:100152776G>A ENST00000370575.4 - 9 898 c.850C>T c.(850-852)Cag>Tag p.Q284* PYROXD2_ENST00000483923.1_5'UTR NM_032709.2 NP_116098.2 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 2 284 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 ATGCCCCCCTGGACGTAGCCC 0.617000 35 11 0 0 1 0 0 STAT6 6778 broad.mit.edu 37 12 57490531 57490531 + Missense_Mutation SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:57490531T>A ENST00000300134.3 - 22 2693 c.2368A>T c.(2368-2370)Ata>Tta p.I790L STAT6_ENST00000543873.2_Missense_Mutation_p.I790L|STAT6_ENST00000538913.2_Missense_Mutation_p.I680L|STAT6_ENST00000537215.2_Missense_Mutation_p.I680L|STAT6_ENST00000556155.1_Missense_Mutation_p.I790L|STAT6_ENST00000454075.3_Missense_Mutation_p.I790L NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 790 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 GGAGGGAATATGTCTTCACCA 0.617000 11 14 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688779 26688779 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:26688779G>A ENST00000529632.2 + 2 698 c.502G>A c.(502-504)Ggg>Agg p.G168R SEZ6L_ENST00000343706.4_Missense_Mutation_p.G168R|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G168R|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G168R|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G168R|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR 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 168 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 TGGCCCACCGGGGGACCCGGA 0.672000 26 33 0 0 1 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110036356 110036356 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:110036356T>C ENST00000453089.2 + 5 3334 c.2453T>C c.(2452-2454)tTc>tCc p.F818S ZC3H12C_ENST00000278590.3_Missense_Mutation_p.F849S|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.F850S Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 849 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) TGCAACATCTTCCCCCCTGAC 0.512000 3 2 0 0 1 0 0 ZNF223 7766 broad.mit.edu 37 19 44531259 44531259 + Missense_Mutation SNP C C G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:44531259C>G ENST00000591793.1 + 2 210 c.127C>G c.(127-129)Cga>Gga p.R43G ZNF222_ENST00000587846.1_Missense_Mutation_p.R43G|ZNF222_ENST00000187879.8_Missense_Mutation_p.R34G|ZNF222_ENST00000391960.3_Missense_Mutation_p.R43G|ZNF222_ENST00000590160.1_3'UTR Q9UK11 ZN223_HUMAN zinc finger protein 223 34 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) GAAGCTGTACCGAGATGTGAT 0.552000 50 86 0 0 1 0 0 PSPC1 55269 broad.mit.edu 37 13 20277425 20277425 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:20277425G>A ENST00000338910.4 - 9 1621 c.1462C>T c.(1462-1464)Cct>Tct p.P488S NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 488 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) GGTGCTTGAGGGGTTTCAGAA 0.493000 12 44 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800849 185800849 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:185800849G>A ENST00000302277.6 + 4 1320 c.726G>A c.(724-726)gtG>gtA p.V242V NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 242 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 ATGCCTCAGTGGGAAAAGGAT 0.428000 28 21 0 0 1 0 0 CD248 57124 broad.mit.edu 37 11 66082536 66082536 + Silent SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:66082536A>G ENST00000311330.3 - 1 1979 c.1963T>C c.(1963-1965)Ttg>Ctg p.L655L RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 655 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CACAGGGCCAACTTGGGACTG 0.642000 18 22 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37730434 37730434 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:37730434G>A ENST00000330843.4 - 4 1898 c.1886C>T c.(1885-1887)cCc>cTc p.P629L RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 629 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) AGGGAGCAAGGGTGGTCCTTC 0.512000 22 38 0 0 1 0 0 SPPL2C 162540 broad.mit.edu 37 17 43923097 43923097 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:43923097C>T ENST00000329196.5 + 1 842 c.825C>T c.(823-825)gaC>gaT p.D275D MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 275 integral to membrane aspartic-type endopeptidase activity TCTTCTATGACCACTTTGTCT 0.572000 36 90 0 0 1 0 0 LILRA5 353514 broad.mit.edu 37 19 54822799 54822799 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:54822799G>A ENST00000301219.3 - 5 716 c.597C>T c.(595-597)ttC>ttT p.F199F LILRA5_ENST00000446712.3_Silent_p.F187F|LILRA5_ENST00000432233.3_Silent_p.F199F|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Silent_p.F187F NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 199 Ig-like C2-type 2. innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGCCCACAGGGAACAGGGCCT 0.587000 22 31 0 0 1 0 0 SYN1 6853 broad.mit.edu 37 X 47466581 47466581 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:47466581C>T ENST00000295987.7 - 2 518 c.394G>A c.(394-396)Ggg>Agg p.G132R SYN1_ENST00000340666.4_Missense_Mutation_p.G132R NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 132 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 ATCTTTTTCCCTTTGAAGTAT 0.438000 9 34 0 0 1 0 0 NACA2 342538 broad.mit.edu 37 17 59668385 59668385 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:59668385G>A ENST00000521764.1 - 1 178 c.157C>T c.(157-159)Ctg>Ttg p.L53L NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 53 protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) GCTGCCACCAGCCAGGCTTTT 0.507000 31 82 0 0 1 0 0 TNFRSF18 8784 broad.mit.edu 37 1 1140775 1140775 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:1140775G>A ENST00000379268.2 - 2 404 c.285C>T c.(283-285)ccC>ccT p.P95P TNFRSF18_ENST00000379265.5_Silent_p.P95P|TNFRSF18_ENST00000328596.6_Silent_p.P95P|TNFRSF18_ENST00000486728.1_Silent_p.P23P NM_004195.2|NM_148902.1 NP_004186.1|NP_683700.1 Q9Y5U5 TNR18_HUMAN tumor necrosis factor receptor superfamily, member 18 95 anti-apoptosis|apoptosis extracellular region|integral to plasma membrane tumor necrosis factor receptor activity lung(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCTGGCCTGGGGGACAAGGGT 0.657000 11 8 0 0 1 0 0 PELO 53918 broad.mit.edu 37 5 52096927 52096927 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:52096927C>T ENST00000274311.2 + 2 1684 c.699C>T c.(697-699)ctC>ctT p.L233L PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron NM_015946.4 NP_057030.3 Q9BRX2 PELO_HUMAN pelota homolog (Drosophila) 233 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 11 Lung NSC(810;4.94e-05)|Breast(144;0.0848) ACAAACTGCTCCTGGAAAACC 0.443000 10 25 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64880766 64880766 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:64880766C>T ENST00000533854.1 + 5 795 c.558C>T c.(556-558)ttC>ttT p.F186F CACNG5_ENST00000307139.3_Silent_p.F186F|CACNG5_ENST00000169565.3_Silent_p.F186F Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 186 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) CCATCTCCTTCCTTTTAACGG 0.562000 29 41 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237972324 237972324 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:237972324G>A ENST00000366574.2 + 100 14739 c.14422G>A c.(14422-14424)Gat>Aat p.D4808N RYR2_ENST00000542537.1_Missense_Mutation_p.D4792N|RYR2_ENST00000360064.6_Missense_Mutation_p.D4814N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4808 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.D4806Y(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAAATGTGACGATATGCTAAC 0.338000 27 54 0 0 1 0 0 LACRT 90070 broad.mit.edu 37 12 55028623 55028623 + Translation_Start_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:55028623C>T ENST00000257867.4 - 1 56 c.3G>A c.(1-3)atG>atA p.M1I LACRT_ENST00000547511.1_Start_Codon_SNP_p.M1I NM_033277.1 NP_150593.1 Q9GZZ8 LACRT_HUMAN lacritin 1 calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion extracellular region|stored secretory granule collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1) 10 TGGTAAATTTCATTCTTTGGG 0.512000 16 22 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19359523 19359523 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:19359523C>T ENST00000252575.5 + 14 3695 c.3652C>T c.(3652-3654)Cct>Tct p.P1218S NCAN_ENST00000538881.1_Missense_Mutation_p.P669S NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1218 Sushi. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CTGTGGTCCCCCTCCGGCAGT 0.517000 11 12 0 0 1 0 0 CCDC87 55231 broad.mit.edu 37 11 66358364 66358364 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:66358364T>C ENST00000333861.3 - 1 2190 c.2123A>G c.(2122-2124)aAa>aGa p.K708R NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 708 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CAGGCGGGCTTTGGAGCTATA 0.547000 32 52 0 0 1 0 0 CBX6 23466 broad.mit.edu 37 22 39262795 39262795 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:39262795G>A ENST00000407418.3 - 5 781 c.658C>T c.(658-660)Ctg>Ttg p.L220L CBX6_ENST00000216083.6_Silent_p.L202L O95503 CBX6_HUMAN chromobox homolog 6 220 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) TGTGTACGCAGGACGCTCTCG 0.706000 17 83 0 0 1 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5203839 5203839 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:5203839G>A ENST00000334314.3 - 3 434 c.358C>T c.(358-360)Cat>Tat p.H120Y aldo-keto reductase family 1, member C-like 1 cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 AATGGTACATGAATAATGAAG 0.413000 10 11 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 3 20 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9055492 9055492 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:9055492G>A ENST00000383836.3 - 16 2275 c.1848C>T c.(1846-1848)atC>atT p.I616I SRGAP3_ENST00000360413.3_Silent_p.I592I NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 616 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GGATTTGTTGGATCTGGTGCA 0.527000 T RAF1 pilocytic astrocytoma 18 30 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100238392 100238392 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:100238392G>A ENST00000462107.1 - 4 677 c.390C>T c.(388-390)ttC>ttT p.F130F TFR2_ENST00000431692.1_Silent_p.F130F|TFR2_ENST00000223051.3_Silent_p.F130F Q9UP52 TFR2_HUMAN transferrin receptor 2 130 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGCCCTGGTGGAAATCCAGGT 0.622000 15 19 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58299281 58299281 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:58299281C>T ENST00000377918.3 + 4 3359 c.3333C>T c.(3331-3333)tcC>tcT p.S1111S NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1111 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) GCCGGGATTCCAGTGAGATGG 0.522000 140 79 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70208401 70208401 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:70208401T>C ENST00000253925.7 + 21 2887 c.2672T>C c.(2671-2673)gTt>gCt p.V891A PPFIA1_ENST00000389547.3_Missense_Mutation_p.V891A|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 891 SAM 1. cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CAGCTCTGGGTTGGGATGCCA 0.562000 14 22 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139907180 139907180 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:139907180G>A ENST00000265662.5 - 31 5212 c.5065C>T c.(5065-5067)Cgc>Tgc p.R1689C ABCA2_ENST00000371605.3_Missense_Mutation_p.R1688C|ABCA2_ENST00000341511.6_Missense_Mutation_p.R1689C Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1688 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) AGTCGGAAGCGGTCGGAGGTG 0.662000 9 7 0 0 1 0 0 AMELX 265 broad.mit.edu 37 X 11316866 11316866 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:11316866C>T ENST00000380712.3 + 6 453 c.385C>T c.(385-387)Cac>Tac p.H129Y ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.H99Y|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.H115Y NM_182680.1 NP_872621.1 Q99217 AMELX_HUMAN amelogenin, X-linked 115 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 AATCCAACACCACCAGCCAAA 0.642000 32 48 0 0 1 0 0 KIF3A 11127 broad.mit.edu 37 5 132056301 132056301 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:132056301G>A ENST00000378746.4 - 5 834 c.616_splice c.e5+1 p.R206_splice KIF3A_ENST00000403231.1_Splice_Site_p.R206_splice|KIF3A_ENST00000378735.1_Splice_Site_p.R206_splice|AC004237.1_ENST00000431165.1_RNA NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 206 Kinesin-motor. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding p.R206C(2) endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTATACTTACGATTTTTGTGG 0.363000 4 5 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4927035 4927035 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:4927035C>T ENST00000320785.5 + 23 3258 c.2901C>T c.(2899-2901)gcC>gcT p.A967A NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 967 Pro-rich. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 GGCCCCCAGCCCGCTTTGTGC 0.697000 19 6 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34101229 34101229 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:34101229G>A ENST00000374181.3 - 1 214 c.45C>T c.(43-45)ccC>ccT p.P15P GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Silent_p.P15P NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 15 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GCAGGCAAAGGGGCAGCCGGG 0.627000 7 38 0 0 1 0 0 ZFR 51663 broad.mit.edu 37 5 32415079 32415079 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:32415079T>C ENST00000265069.8 - 5 881 c.779A>G c.(778-780)tAt>tGt p.Y260C NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 260 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) CTTACCAGAATATGTAACTGC 0.403000 21 24 0 0 1 0 0 OR52A4P 390053 broad.mit.edu 37 11 5142675 5142675 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:5142675C>T ENST00000498233.1 - 0 723 breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) TAGAGAATTTCCAATCAGAGC 0.433000 25 41 0 0 1 0 0 OR6C6 283365 broad.mit.edu 37 12 55688902 55688902 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:55688902C>T ENST00000358433.2 - 1 114 c.115G>A c.(115-117)Ggg>Agg p.G39R NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 ATTAAGTTCCCCATCAGGCTC 0.413000 13 22 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70641224 70641224 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:70641224G>A ENST00000449580.1 + 29 4498 c.4447G>A c.(4447-4449)Gag>Aag p.E1483K TAF1_ENST00000423759.1_Missense_Mutation_p.E1504K|TAF1_ENST00000276072.3_Missense_Mutation_p.E1504K|TAF1_ENST00000373790.4_Missense_Mutation_p.E1483K P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1483 Interaction with ASF1A and ASF1B.|Protein kinase 2. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) AAAACTCAAAGAGGTAAGACA 0.403000 8 15 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891020 2891020 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:2891020G>A ENST00000254528.3 + 4 1054 c.895G>A c.(895-897)Gaa>Aaa p.E299K NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 299 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) ACAGCTCCAGGAAGCAGCTCA 0.522000 29 49 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38924655 38924655 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:38924655G>A ENST00000274276.3 + 14 2404 c.2002G>A c.(2002-2004)Gcg>Acg p.A668T NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 668 Fibronectin type-III 4. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GAAATCCAAGGCGAGGCAGTG 0.373000 25 40 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769190 247769190 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:247769190C>T ENST00000320002.2 + 1 335 c.303C>T c.(301-303)ctC>ctT p.L101L RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGCGCAACTCTATATTTCTC 0.483000 56 100 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25338370 25338370 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:25338370C>T ENST00000255324.5 + 1 81 c.29C>T c.(28-30)cCt>cTt p.P10L RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Missense_Mutation_p.P10L|RNF17_ENST00000381921.1_Missense_Mutation_p.P10L NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 10 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AAGACTGGGCCTTCTAGGTCT 0.607000 21 74 0 0 1 0 0 LALBA 3906 broad.mit.edu 37 12 48962944 48962944 + Silent SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:48962944G>T ENST00000549817.1 - 2 258 c.213C>A c.(211-213)ctC>ctA p.L71L LALBA_ENST00000301046.2_Silent_p.L71L P00709 LALBA_HUMAN lactalbumin, alpha- 71 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 TGATCTGGAAGAGTCCATATT 0.453000 22 32 1.50039e-11 1.52019e-11 1 1 0 NPTXR 23467 broad.mit.edu 37 22 39218804 39218804 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:39218804G>A ENST00000333039.2 - 5 1436 c.1313C>T c.(1312-1314)gCc>gTc p.A438V NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor 438 Pentaxin. integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) ACCGACAAAGGCCTGGGTGGC 0.607000 7 30 0 0 1 0 0 DDX20 11218 broad.mit.edu 37 1 112303645 112303645 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:112303645C>T ENST00000369702.4 + 6 1480 c.860C>T c.(859-861)cCt>cTt p.P287L DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR NM_007204.4 NP_009135.4 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 287 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AATTCATACCCTTTGGCACAT 0.343000 14 35 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127687 117127687 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:117127687C>T ENST00000310357.3 - 3 1202 c.1181G>A c.(1180-1182)aGg>aAg p.R394K GPRC6A_ENST00000368549.3_Missense_Mutation_p.R394K|GPRC6A_ENST00000530250.1_Intron NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 394 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) GACGAAGTTCCTTTCTATAGC 0.438000 9 1 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8418476 8418476 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:8418476G>A ENST00000337907.3 - 21 4753 c.4119C>T c.(4117-4119)ccC>ccT p.P1373P RERE_ENST00000476556.1_Silent_p.P819P|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Silent_p.P1105P|RERE_ENST00000400908.2_Silent_p.P1373P NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1373 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CCCTCTCCAAGGGGTTCAGGC 0.692000 3 11 0 0 1 0 0 SFRP1 6422 broad.mit.edu 37 8 41122809 41122809 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:41122809C>T ENST00000220772.3 - 3 1159 c.822G>A c.(820-822)aaG>aaA p.K274K SFRP1_ENST00000379845.3_Silent_p.K138K NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 274 NTR. brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) GGCTCTTCACCTTGCGGCCCA 0.507000 26 34 0 0 1 0 0 FAM120C 54954 broad.mit.edu 37 X 54143144 54143144 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:54143144G>A ENST00000375180.2 - 10 2202 c.2146C>T c.(2146-2148)Cgg>Tgg p.R716W FAM120C_ENST00000328235.4_Missense_Mutation_p.R716W NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 716 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GTCCATTCCCGAAATGTCAGT 0.493000 14 19 0 0 1 0 0 IGHV4-34 28395 broad.mit.edu 37 14 106829627 106829627 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:106829627G>A ENST00000390616.2 - 0 366 TGTCCGCGGCGGTCACAGAGC 0.572000 75 127 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128540237 128540237 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:128540237C>T ENST00000368227.3 - 6 1064 c.698G>A c.(697-699)cGa>cAa p.R233Q PTPRK_ENST00000368213.5_Missense_Mutation_p.R233Q|PTPRK_ENST00000368226.4_Missense_Mutation_p.R233Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.R233Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.R233Q|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.R233Q|PTPRK_ENST00000532331.1_Missense_Mutation_p.R233Q Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 233 Ig-like C2-type. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TTCTCCATTTCGTCTCTGCAA 0.353000 20 7 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94697658 94697658 + Missense_Mutation SNP A A C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:94697658A>C ENST00000258526.4 + 29 4762 c.4513A>C c.(4513-4515)Act>Cct p.T1505P PLXNC1_ENST00000545312.1_Missense_Mutation_p.T244P|PLXNC1_ENST00000547057.1_Missense_Mutation_p.T552P NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 1505 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AGAATTTTTAACTCAGGAATC 0.333000 11 16 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109684123 109684123 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:109684123C>T ENST00000338432.7 + 39 5560 c.5441C>T c.(5440-5442)tCc>tTc p.S1814F ACACB_ENST00000377848.3_Missense_Mutation_p.S1814F|ACACB_ENST00000543201.1_Missense_Mutation_p.S480F|ACACB_ENST00000377854.5_Missense_Mutation_p.S1744F O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1814 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CTGCGGGCATCCGAGATGGCC 0.567000 26 34 0 0 1 0 0 LRIF1 55791 broad.mit.edu 37 1 111494201 111494201 + Silent SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:111494201A>T ENST00000369763.4 - 2 1695 c.1305T>A c.(1303-1305)gcT>gcA p.A435A LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TGGCCATGGAAGCAAGCTGGG 0.393000 40 62 0 0 1 0 0 ARC 23237 broad.mit.edu 37 8 143694449 143694449 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:143694449G>A ENST00000356613.2 - 1 2384 c.1184C>T c.(1183-1185)cCc>cTc p.P395L NM_015193.3 NP_056008.1 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated protein 395 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) CCTCTACTCGGGCTGGGTCCG 0.706000 2 2 0 0 1 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806256 97806256 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:97806256C>T ENST00000358642.2 + 1 240 c.240C>T c.(238-240)acC>acT p.T80T NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 CCTCTATAACCCCTAGGATGC 0.413000 49 82 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839075 15839075 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:15839075C>T ENST00000305899.3 + 1 242 c.222C>T c.(220-222)acC>acT p.T74T NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) TCCTCTACACCGTGGCCATCA 0.622000 37 55 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21611424 21611424 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:21611424G>A ENST00000328843.6 + 8 1457 c.1425_splice c.e8-1 p.D476_splice DNAH11_ENST00000409508.3_Splice_Site_p.D476_splice Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 476 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTTTACAAAGGATATATTTGC 0.338000 Kartagener syndrome 3 9 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12937325 12937325 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:12937325G>A ENST00000218032.6 + 2 253 c.166G>A c.(166-168)Gaa>Aaa p.E56K TLR8_ENST00000311912.5_Missense_Mutation_p.E74K NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 56 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TCGACTACAGGAAGTTCCCCA 0.403000 20 61 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27688144 27688144 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:27688144G>A ENST00000438700.3 - 4 1500 c.1383C>T c.(1381-1383)atC>atT p.I461I NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 461 SSD. spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CAGAAATCATGATAAACATGT 0.358000 9 6 0 0 1 0 0 FZR1 51343 broad.mit.edu 37 19 3527037 3527037 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:3527037C>T ENST00000441788.2 + 6 683 c.447C>T c.(445-447)tcC>tcT p.S149S FZR1_ENST00000313639.8_Intron|FZR1_ENST00000395095.3_Silent_p.S149S NM_016263.3 NP_057347.2 Q9UM11 FZR_HUMAN fizzy/cell division cycle 20 related 1 (Drosophila) 149 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCCTACTCCCTGTCTCCCG 0.642000 29 30 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57169798 57169798 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:57169798G>A ENST00000371244.4 + 7 1009 c.943G>A c.(943-945)Gac>Aac p.D315N NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 315 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 ATATAGTGGTGACCCTCAAGA 0.408000 36 39 0 0 1 0 0 FAM19A4 151647 broad.mit.edu 37 3 68802051 68802051 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:68802051C>T ENST00000295569.7 - 4 741 c.249G>A c.(247-249)gtG>gtA p.V83V NM_001005527.2|NM_182522.4 NP_001005527.1|NP_872328.1 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 83 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2) 10 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) TTGTGCCCGCCACCTGTCCCG 0.537000 17 31 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48316016 48316016 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:48316016G>A ENST00000435803.1 + 17 6777 c.6753G>A c.(6751-6753)agG>agA p.R2251R NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2251 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AAACTAGTAGGAAAACAGTTC 0.338000 4 3 0 0 1 0 0 DFNA5 1687 broad.mit.edu 37 7 24756935 24756935 + Missense_Mutation SNP G G A rs145754170 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:24756935G>A ENST00000545231.1 - 7 1293 c.143C>T c.(142-144)cCa>cTa p.P48L DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000419307.1_Missense_Mutation_p.P48L|DFNA5_ENST00000409970.1_Missense_Mutation_p.P48L|DFNA5_ENST00000409775.3_Missense_Mutation_p.P212L|DFNA5_ENST00000342947.3_Missense_Mutation_p.P212L O60443 DFNA5_HUMAN deafness, autosomal dominant 5 212 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 GGTGGCAGCTGGGATCTCCAG 0.592000 17 27 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55782888 55782888 + Missense_Mutation SNP G G A rs34553661 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:55782888G>A ENST00000373965.2 - 20 2705 c.2311C>T c.(2311-2313)Cgt>Tgt p.R771C PCDH15_ENST00000395432.2_Missense_Mutation_p.R727C|PCDH15_ENST00000395433.1_Missense_Mutation_p.R742C|PCDH15_ENST00000373955.1_Missense_Mutation_p.R764C|PCDH15_ENST00000361849.3_Missense_Mutation_p.R764C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.R769C|PCDH15_ENST00000409834.1_Missense_Mutation_p.R375C|PCDH15_ENST00000320301.6_Missense_Mutation_p.R764C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395430.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R771C|PCDH15_ENST00000437009.1_Missense_Mutation_p.R693C|PCDH15_ENST00000395446.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 764 Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GATGTGATACGAAAAAGATTA 0.368000 HNSCC(58;0.16) 17 9 0 0 1 0 0 COL26A1 136227 broad.mit.edu 37 7 101200855 101200855 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:101200855C>T ENST00000313669.7 + 0 1560 COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 GAGACCCAGCCCCAGAGGCCT 0.627000 4 14 0 0 1 0 0 ZNF595 152687 broad.mit.edu 37 4 59341 59341 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:59341G>A ENST00000509152.2 + 2 207 c.22G>A c.(22-24)Gat>Aat p.D8N ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.D8N zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) AACATTCAGGGATGTGGCCAT 0.418000 25 218 0 0 1 0 0 IL5RA 3568 broad.mit.edu 37 3 3111974 3111974 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:3111974C>T ENST00000446632.2 - 12 1772 c.1198G>A c.(1198-1200)Gaa>Aaa p.E400K IL5RA_ENST00000438560.1_Silent_p.R371R|IL5RA_ENST00000445864.2_Missense_Mutation_p.E191K|IL5RA_ENST00000418488.2_Missense_Mutation_p.E305K|IL5RA_ENST00000256452.3_Missense_Mutation_p.E400K NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 400 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) ACTTCAATTTCCGTCTCACTG 0.398000 45 58 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1389811 1389811 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:1389811G>A ENST00000378785.2 + 4 1304 c.309G>A c.(307-309)ctG>ctA p.L103L NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 103 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AGGCTCGGCTGGGGAAGCCGT 0.672000 6 4 0 0 1 0 0 ATG14 22863 broad.mit.edu 37 14 55836455 55836455 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:55836455G>A ENST00000247178.5 - 10 1396 c.1361C>T c.(1360-1362)tCc>tTc p.S454F NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 454 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 CTGACTCTGGGAGACTTCCAC 0.587000 18 15 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107315415 107315415 + Missense_Mutation SNP G G A rs111033303 byFrequency TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:107315415G>A ENST00000265715.3 + 6 850 c.626G>A c.(625-627)gGa>gAa p.G209E NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 209 G -> V (in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TTGCAGATTGGATTCATAGTG 0.408000 Pendred syndrome 35 70 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100029116 100029116 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:100029116C>T ENST00000310512.2 + 1 1863 c.1475C>T c.(1474-1476)tCc>tTc p.S492F MEPCE_ENST00000414441.1_Missense_Mutation_p.S23F NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 492 Bin3-type SAM. methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CACTACCTTTCCGAGGAGCTG 0.627000 17 22 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43996027 43996027 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:43996027C>T ENST00000262726.7 - 23 3051 c.2798G>A c.(2797-2799)gGt>gAt p.G933D EFCAB6_ENST00000396231.2_Missense_Mutation_p.G781D NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 933 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TGTAAAATGACCCATGAAGTT 0.483000 40 235 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17370177 17370177 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:17370177C>T ENST00000252597.3 - 7 1140 c.967G>A c.(967-969)Ggc>Agc p.G323S USHBP1_ENST00000431146.2_Missense_Mutation_p.G259S NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 323 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 TCACAGCGGCCCTTGTATCCC 0.567000 14 20 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458105 248458105 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:248458105C>T ENST00000317996.1 - 1 775 c.776G>A c.(775-777)aGa>aAa p.R259K NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GGATTTGGGTCTCATATAGGT 0.483000 24 53 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57642220 57642220 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:57642220G>A ENST00000254181.4 + 4 2631 c.2177G>A c.(2176-2178)gGa>gAa p.G726E USP29_ENST00000598197.1_Missense_Mutation_p.G726E NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 726 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATTCCAGAAGGATCTCAAGGA 0.428000 13 21 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 172100375 172100375 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:172100375G>A ENST00000358155.4 + 14 1782 c.1606G>A c.(1606-1608)Gga>Aga p.G536R DNM3_ENST00000367733.2_Missense_Mutation_p.G536R|DNM3_ENST00000355305.5_Missense_Mutation_p.G546R|DNM3_ENST00000520906.1_Missense_Mutation_p.G536R|DNM3_ENST00000367731.1_Missense_Mutation_p.G536R NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 546 PH. endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CGGCTCGAAGGGATACTGGTT 0.433000 5 9 0 0 1 0 0 NAALADL1 10004 broad.mit.edu 37 11 64825960 64825960 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:64825960C>T ENST00000358658.3 - 1 61 c.34G>A c.(34-36)Ggg>Agg p.G12R NAALADL1_ENST00000356632.3_Missense_Mutation_p.G12R|NAALADL1_ENST00000355369.2_Missense_Mutation_p.G12R|NAALADL1_ENST00000340252.4_Missense_Mutation_p.G12R|NAALADL1_ENST00000355721.3_Missense_Mutation_p.G12R|NAALADL1_ENST00000339885.2_Missense_Mutation_p.G12R NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 12 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 GCAGCAGCCCCCAGCCCCAGC 0.607000 12 16 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65209862 65209862 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:65209862C>T ENST00000247226.7 + 15 3241 c.2933C>T c.(2932-2934)tCc>tTc p.S978F PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S1034F|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S539F|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S567F NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 1034 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) GGCCGGCCCTCCGCCCGGAGC 0.682000 59 77 0 0 1 0 0 KRT23 25984 broad.mit.edu 37 17 39084593 39084593 + Missense_Mutation SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:39084593T>A ENST00000209718.3 - 6 1242 c.818A>T c.(817-819)gAg>gTg p.E273V AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.E136V NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 273 Coil 2.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) ACTGGCTGCCTCCTGGGACAT 0.547000 30 81 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85459152 85459152 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:85459152G>A ENST00000393217.2 + 9 2565 c.2504G>A c.(2503-2505)aGc>aAc p.S835N NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 835 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TCTTTGCACAGCCTGAGTAAT 0.358000 16 43 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92101015 92101015 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:92101015G>A ENST00000377067.3 + 2 536 c.163_splice c.e2-1 p.G55_splice NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 55 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TGTGTTCCAGGACCTGATCTT 0.413000 53 27 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21796596 21796596 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:21796596C>T ENST00000206660.6 + 18 2909 c.2909C>T c.(2908-2910)tCt>tTt p.S970F RPGRIP1_ENST00000400017.2_Missense_Mutation_p.S970F|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.S932F|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.S627F|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.S296F|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.S329F Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 970 Interaction with RPGR. response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CAGATGGCATCTCCTGAGGTT 0.443000 11 32 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10081489 10081489 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:10081489C>T ENST00000287647.3 + 9 748 c.655C>T c.(655-657)Cta>Tta p.L219L FANCD2_ENST00000431693.1_Silent_p.L219L|FANCD2_ENST00000383806.1_Silent_p.L219L|FANCD2_ENST00000438741.1_3'UTR|FANCD2_ENST00000383807.1_Silent_p.L219L|FANCD2_ENST00000419585.1_Silent_p.L219L NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 219 Interaction with FANCE. DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) ACCTGAGATCCTAGGGGATTC 0.512000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 18 37 0 0 1 0 0 RP11-909M7.3 0 broad.mit.edu 37 14 101439060 101439060 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:101439060C>T ENST00000554693.2 + 0 384 SNORD114-15_ENST00000364687.1_RNA GAATATGTGTCTGGAACTCTG 0.368000 23 39 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152801762 152801762 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:152801762G>A ENST00000370186.1 + 2 383 c.57G>A c.(55-57)cgG>cgA p.R19R ATP2B3_ENST00000263519.4_Silent_p.R19R|ATP2B3_ENST00000349466.2_Silent_p.R19R|ATP2B3_ENST00000393842.1_Silent_p.R19R|ATP2B3_ENST00000370181.2_Silent_p.R19R|ATP2B3_ENST00000359149.3_Silent_p.R19R Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 19 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGCAGCAGCGGGATGTCCCCC 0.642000 4 3 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33560108 33560108 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:33560108G>A ENST00000228567.3 - 3 989 c.693C>T c.(691-693)atC>atT p.I231I SYT10_ENST00000535526.1_Silent_p.I50I NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 231 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GTTTCCCACAGATTTTGACAT 0.383000 10 20 0 0 1 0 0 TECTB 6975 broad.mit.edu 37 10 114043548 114043548 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:114043548C>T ENST00000369422.3 + 1 56 c.56C>T c.(55-57)tCg>tTg p.S19L NM_058222.1 NP_478129.1 Q96PL2 TECTB_HUMAN tectorin beta 19 ZP. anchored to membrane|plasma membrane|proteinaceous extracellular matrix kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) TCTGCAAAATCGTGTGCTCCA 0.478000 9 2 0 0 1 0 0 SMEK1 55671 broad.mit.edu 37 14 91927910 91927910 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:91927910G>A ENST00000554684.1 - 14 2663 c.2167C>T c.(2167-2169)Ctt>Ttt p.L723F SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Missense_Mutation_p.L497F|SMEK1_ENST00000428424.2_Missense_Mutation_p.L497F|SMEK1_ENST00000337238.4_Missense_Mutation_p.L723F|SMEK1_ENST00000554943.1_Missense_Mutation_p.L736F Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 (Dictyostelium) 736 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1) 6 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) CGTCCAGAAAGGTTTGTTTTC 0.428000 41 68 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113232122 113232122 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:113232122C>T ENST00000369644.1 + 5 1288 c.259C>T c.(259-261)Ctg>Ttg p.L87L MOV10_ENST00000413052.2_Silent_p.L143L|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Silent_p.L143L|MOV10_ENST00000357443.2_Silent_p.L143L Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 143 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) CCTTATCCGCCTGGATTTGAA 0.587000 25 37 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16734245 16734245 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:16734245C>T ENST00000381323.3 - 12 1151 c.931G>A c.(931-933)Gat>Aat p.D311N FAM49A_ENST00000406434.1_Missense_Mutation_p.D311N|FAM49A_ENST00000355549.2_Missense_Mutation_p.D311N NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 311 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) GTTGATTCATCGTTCAAGTGC 0.433000 19 5 0 0 1 0 0 STX16 8675 broad.mit.edu 37 20 57244505 57244505 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:57244505C>T ENST00000371141.4 + 5 1276 c.552C>T c.(550-552)ctC>ctT p.L184L STX16_ENST00000359617.4_Silent_p.L131L|STX16_ENST00000496003.1_Intron|STX16_ENST00000361770.5_Silent_p.L167L|STX16-NPEPL1_ENST00000530122.1_Silent_p.L184L|STX16_ENST00000371132.4_Silent_p.L163L|STX16_ENST00000355957.5_Silent_p.L167L|STX16_ENST00000361830.3_Silent_p.L184L|STX16_ENST00000358029.4_Silent_p.L180L NM_001001433.2 NP_001001433.1 O14662 STX16_HUMAN syntaxin 16 184 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1) 17 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) CAGGCTACCTCAAACGTGAGT 0.542000 4 10 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21973258 21973258 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:21973258G>A ENST00000381418.4 - 19 5005 c.3525C>T c.(3523-3525)ttC>ttT p.F1175F HR_ENST00000312841.8_Silent_p.F1120F NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 1175 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) TCACTGCTTGGAACACAGCCC 0.547000 10 16 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32634774 32634774 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:32634774C>T ENST00000242310.4 - 1 893 c.804G>A c.(802-804)ggG>ggA p.G268G RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 268 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GGACATTCTTCCCTGGTCCAA 0.493000 18 47 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151112519 151112519 + Missense_Mutation SNP G G C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:151112519G>C ENST00000474524.1 + 37 5617 c.5579G>C c.(5578-5580)cGg>cCg p.R1860P MED12L_ENST00000273432.4_Missense_Mutation_p.R1720P NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1860 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATGCTACAGCGGCGCTCAGGC 0.527000 31 58 0 0 1 0 0 GRN 2896 broad.mit.edu 37 17 42426862 42426862 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:42426862C>T ENST00000053867.3 + 3 269 c.207C>T c.(205-207)gcC>gcT p.A69A GRN_ENST00000589265.1_Silent_p.A69A NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 69 A -> T. signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) ACTGCTCTGCCGGCCACTCCT 0.572000 41 42 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74453571 74453571 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:74453571C>T ENST00000307439.5 - 5 662 c.368G>A c.(367-369)aGg>aAg p.R123K RASSF6_ENST00000335049.5_Missense_Mutation_p.R111K|RASSF6_ENST00000342081.3_Missense_Mutation_p.R155K|RASSF6_ENST00000395777.2_Missense_Mutation_p.R123K NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 155 apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) CTGGGAATTCCTTTTTTCAGA 0.373000 21 37 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597363 136597363 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:136597363C>T ENST00000531224.1 - 5 1552 c.1300G>A c.(1300-1302)Gaa>Aaa p.E434K BCLAF1_ENST00000527759.1_Missense_Mutation_p.E432K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E434K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E432K|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E432K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 434 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTGAGTCCTTCCTCCTCAGTA 0.398000 34 78 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50248559 50248559 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:50248559C>T ENST00000246801.3 - 7 1169 c.1087G>A c.(1087-1089)Gac>Aac p.D363N TSKS_ENST00000358830.3_Missense_Mutation_p.D163N NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 363 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) AGGAAGCCGTCGACCCTGCCG 0.706000 6 21 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540720 55540720 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:55540720G>A ENST00000220676.1 + 4 4426 c.4278G>A c.(4276-4278)agG>agA p.R1426R NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1426 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTTCACTAAGGAAGTTTCAGG 0.368000 11 19 0 0 1 0 0 C1orf95 375057 broad.mit.edu 37 1 226784624 226784624 + Silent SNP C C T rs148475965 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:226784624C>T ENST00000366788.3 + 2 429 c.324C>T c.(322-324)atC>atT p.I108I C1orf95_ENST00000366789.4_Silent_p.I108I NM_001003665.3 NP_001003665.1 Q69YW2 CA095_HUMAN chromosome 1 open reading frame 95 108 integral to membrane large_intestine(1)|lung(4)|ovary(3) 8 Breast(184;0.133) Prostate(94;0.0885) GBM - Glioblastoma multiforme(131;0.113) TCACTGCCATCGTCATGGTGG 0.612000 43 66 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52277704 52277704 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:52277704G>A ENST00000354831.7 - 17 2134 c.1945C>T c.(1945-1947)Ctc>Ttc p.L649F NRD1_ENST00000544028.1_Missense_Mutation_p.L449F|NRD1_ENST00000352171.7_Missense_Mutation_p.L581F|NRD1_ENST00000539524.1_Missense_Mutation_p.L517F|NRD1_ENST00000485608.1_5'UTR NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 580 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 TCTCCAGTGAGAATGTCCTGC 0.403000 15 28 0 0 1 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887472 9887472 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:9887472C>T ENST00000306084.6 + 2 1195 c.996C>T c.(994-996)tcC>tcT p.S332S TXNDC2_ENST00000357775.4_Silent_p.S265S|TXNDC2_ENST00000536353.2_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 332 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 TCCCCAAGTCCCTAGAGGAAG 0.582000 33 62 0 0 1 0 0 SPRED2 200734 broad.mit.edu 37 2 65543951 65543951 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:65543951G>A ENST00000356388.4 - 5 694 c.505C>T c.(505-507)Ccc>Tcc p.P169S SPRED2_ENST00000443619.2_Missense_Mutation_p.P166S|SPRED2_ENST00000474228.1_5'UTR NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 169 inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 CAGGATGTGGGAGAGGAGATT 0.512000 7 2 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94482562 94482562 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:94482562G>A ENST00000377047.4 + 3 1090 c.475G>A c.(475-477)Gaa>Aaa p.E159K GPC6-AS2_ENST00000445540.1_RNA NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 159 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GAATCTGGAGGAAATGCTCAA 0.473000 8 40 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2465038 2465038 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:2465038G>A ENST00000278772.4 - 6 1056 c.569C>T c.(568-570)tCa>tTa p.S190L RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 GAATGCCCTTGAGGTTTCTCT 0.517000 18 22 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685814 248685814 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:248685814C>T ENST00000343414.4 + 1 899 c.867C>T c.(865-867)atC>atT p.I289I NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCCCATTATCTACACTCTGA 0.443000 19 20 0 0 1 0 0 GLDN 342035 broad.mit.edu 37 15 51692428 51692428 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:51692428G>A ENST00000335449.6 + 7 913 c.857G>A c.(856-858)gGa>gAa p.G286E GLDN_ENST00000396399.2_Missense_Mutation_p.G162E NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 286 cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) ACCTTGGTTGGAAAAGCTGAT 0.413000 18 22 0 0 1 0 0 NMT1 4836 broad.mit.edu 37 17 43176825 43176825 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:43176825C>T ENST00000592782.1 + 9 1068 c.937C>T c.(937-939)Cac>Tac p.H313Y NMT1_ENST00000258960.2_Missense_Mutation_p.H313Y P30419 NMT1_HUMAN N-myristoyltransferase 1 313 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) GAAGTTCTCCCACCTGAGCAG 0.577000 OREG0024470 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 63 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23521231 23521231 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:23521231C>T ENST00000296682.3 + 6 633 c.451C>T c.(451-453)Cca>Tca p.P151S NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 151 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGCTCAGAAACCAGTGTCCCC 0.443000 HNSCC(3;0.000094) 13 12 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146650404 146650404 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:146650404G>A ENST00000607149.1 + 0 350 GTTTATCCAGGAAAACATTTT 0.368000 14 23 0 0 1 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187702271 187702271 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:187702271C>T ENST00000295131.2 - 5 544 c.505G>A c.(505-507)Ggc>Agc p.G169S NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 169 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) ATACTATTGCCACAGCCAAAC 0.289000 11 4 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42185570 42185570 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:42185570C>T ENST00000320955.6 - 2 353 c.126G>A c.(124-126)acG>acA p.T42T RP11-23P13.6_ENST00000309874.2_RNA|RP11-23P13.6_ENST00000564432.2_RNA NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 42 Actin-binding. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GAATGTGGCCCGTCTCGTACT 0.607000 20 17 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34698086 34698086 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:34698086C>T ENST00000360581.1 + 1 190 c.62C>T c.(61-63)tCt>tTt p.S21F AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381553.3_Missense_Mutation_p.S21F|NPSR1_ENST00000465305.1_Missense_Mutation_p.S21F|NPSR1_ENST00000531252.1_Missense_Mutation_p.S21F|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Missense_Mutation_p.S21F|NPSR1_ENST00000359791.1_Missense_Mutation_p.S21F|NPSR1_ENST00000381539.3_Missense_Mutation_p.S21F NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 21 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) ACGCTGGATTCTTCCCCAGTG 0.537000 18 31 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21108902 21108902 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:21108902C>T ENST00000320704.3 - 1 948 c.949G>A c.(949-951)Ggg>Agg p.G317R NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 317 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) AAAAGATTCCCTAAAACGCCT 0.343000 38 61 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81212479 81212479 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:81212479C>T ENST00000394685.3 + 15 2261 c.1842C>T c.(1840-1842)ttC>ttT p.F614F KIAA1199_ENST00000220244.3_Silent_p.F614F|KIAA1199_ENST00000356249.5_Silent_p.F614F|RP11-351M8.2_ENST00000560873.1_RNA Q8WUJ3 K1199_HUMAN KIAA1199 614 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 ACTGCTTCTTCACGGAAGATG 0.532000 12 24 0 0 1 0 0 CFHR2 3080 broad.mit.edu 37 1 196927045 196927045 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:196927045C>T ENST00000367415.4 + 4 569 c.455C>T c.(454-456)cCt>cTt p.P152L CFHR2_ENST00000367421.3_Missense_Mutation_p.P152L|CFHR2_ENST00000476712.1_3'UTR NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 152 Sushi 3. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 TGTGGGCCCCCTCCACCTATT 0.383000 16 37 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35993912 35993912 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:35993912G>A ENST00000297866.5 + 15 2661 c.2595G>A c.(2593-2595)atG>atA p.M865I NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 865 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GCTTCTTCATGAAAACATGTT 0.438000 40 65 0 0 1 0 0 CCR3 1232 broad.mit.edu 37 3 46307396 46307396 + Silent SNP C C T rs76939117 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:46307396C>T ENST00000357422.2 + 4 1290 c.747C>T c.(745-747)ttC>ttT p.F249F CCR3_ENST00000545097.1_Silent_p.F270F|CCR3_ENST00000541018.1_Silent_p.F249F|CCR3_ENST00000395942.2_Silent_p.F249F|CCR3_ENST00000395940.2_Silent_p.F249F P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 249 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CGGTGTTTTTCATTTTCTGGA 0.458000 13 13 0 0 1 0 0 IRX1 79192 broad.mit.edu 37 5 3600290 3600290 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:3600290C>T ENST00000302006.3 + 2 1280 c.1228C>T c.(1228-1230)Cca>Tca p.P410S CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 410 Poly-Pro. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 TCCTGCACCTCCACCACCGCA 0.701000 16 29 0 0 1 0 0 BEND4 389206 broad.mit.edu 37 4 42145871 42145871 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:42145871C>T ENST00000502486.1 - 3 1207 c.628G>A c.(628-630)Gaa>Aaa p.E210K BEND4_ENST00000504360.1_Missense_Mutation_p.E206K NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 210 p.E206K(1) NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 TCCTGTCTTTCGTTGTAACTT 0.443000 6 10 0 0 1 0 0 OR52B6 340980 broad.mit.edu 37 11 5602505 5602505 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:5602505C>T ENST00000345043.2 + 1 399 c.399C>T c.(397-399)gtC>gtT p.V133V AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTCTGCTGTCCTGCTGGCCA 0.522000 20 40 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175898159 175898159 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:175898159G>A ENST00000359240.3 + 5 2153 c.1483G>A c.(1483-1485)Gaa>Aaa p.E495K ADAM29_ENST00000445694.1_Missense_Mutation_p.E495K|ADAM29_ENST00000514159.1_Missense_Mutation_p.E495K|ADAM29_ENST00000404450.4_Missense_Mutation_p.E495K NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 495 Cys-rich. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CTACTGCTATGAAAAGAGCTG 0.453000 20 33 0 0 1 0 0 OR6C65 403282 broad.mit.edu 37 12 55795201 55795201 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:55795201C>T ENST00000379665.2 + 1 988 c.889C>T c.(889-891)Cag>Tag p.Q297* NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 GCAGGTGAAACAGGCCCTTAG 0.358000 7 18 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143586424 143586424 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:143586424C>T ENST00000507359.2 + 2 1238 c.147C>T c.(145-147)tcC>tcT p.S49S KCTD16_ENST00000512467.1_Silent_p.S49S NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 49 BTB. cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TCCCTCATTCCCTCCTGTGGA 0.478000 12 19 0 0 1 0 0 PCCB 5096 broad.mit.edu 37 3 136046515 136046515 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:136046515C>T ENST00000471595.1 + 13 1357 c.1339C>T c.(1339-1341)Ctt>Ttt p.L447F PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000482086.1_Missense_Mutation_p.L331F|PCCB_ENST00000251654.4_Missense_Mutation_p.L447F|PCCB_ENST00000462637.1_Missense_Mutation_p.L424F|PCCB_ENST00000469217.1_Missense_Mutation_p.L467F|PCCB_ENST00000483687.1_Missense_Mutation_p.L428F|PCCB_ENST00000466072.1_Missense_Mutation_p.L467F|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000490504.1_Missense_Mutation_p.L390F|PCCB_ENST00000468777.1_Missense_Mutation_p.L478F P05166 PCCB_HUMAN propionyl CoA carboxylase, beta polypeptide 447 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) CTCTAAGCACCTTTGTGGTGA 0.512000 18 16 0 0 1 0 0 CNOT10 25904 broad.mit.edu 37 3 32800955 32800955 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:32800955C>T ENST00000328834.5 + 14 1917 c.1601C>T c.(1600-1602)tCc>tTc p.S534F CNOT10_ENST00000538368.1_Missense_Mutation_p.S306F|CNOT10_ENST00000454516.2_Missense_Mutation_p.S594F|CNOT10_ENST00000331889.6_Missense_Mutation_p.S507F NM_015442.2 NP_056257.1 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 534 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3) 23 TATAGGTGCTCCATACTTGCT 0.428000 143 236 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187444562 187444562 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:187444562G>A ENST00000406870.2 - 7 2031 c.1665C>T c.(1663-1665)ttC>ttT p.F555F RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Silent_p.F555F NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 555 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) CCTTGTAGCGGAAGGAGGCCT 0.602000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 20 45 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039582 2039582 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:2039582C>T ENST00000382203.1 + 4 681 c.472C>T c.(472-474)Cca>Tca p.P158S SMARCA2_ENST00000349721.2_Missense_Mutation_p.P158S|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P158S|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P158S|SMARCA2_ENST00000491574.1_3'UTR P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 158 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GGCCCTCATCCCAGGTGATCC 0.582000 21 54 0 0 1 0 0 GID8 54994 broad.mit.edu 37 20 61574527 61574527 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:61574527C>T ENST00000266069.3 + 3 454 c.307C>T c.(307-309)Cat>Tat p.H103Y NM_017896.2 NP_060366.1 GID complex subunit 8 TCTTTACTTCCATTTGCAGGT 0.418000 8 19 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197102509 197102509 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:197102509C>T ENST00000367409.4 - 6 2646 c.2390G>A c.(2389-2391)cGa>cAa p.R797Q ASPM_ENST00000294732.7_Missense_Mutation_p.R797Q|ASPM_ENST00000367408.1_Missense_Mutation_p.R47Q NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 797 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TCTATCTTTTCGAACAATTAA 0.348000 9 12 0 0 1 0 0 C1QB 713 broad.mit.edu 37 1 22987647 22987647 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:22987647G>A ENST00000509305.1 + 3 870 c.524G>A c.(523-525)cGa>cAa p.R175Q C1QB_ENST00000314933.6_Missense_Mutation_p.R177Q P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 177 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCCAGCTCTCGAGGGAACCTG 0.567000 17 39 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120833873 120833873 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:120833873G>A ENST00000273666.6 + 6 843 c.572G>A c.(571-573)gGa>gAa p.G191E STXBP5L_ENST00000497029.1_Missense_Mutation_p.G191E|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G191E|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G191E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G191E NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 191 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ATTCTTTCTGGATATGTTATC 0.318000 11 21 0 0 1 0 0 MDM1 56890 broad.mit.edu 37 12 68707276 68707276 + Nonsense_Mutation SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:68707276T>A ENST00000303145.7 - 11 1752 c.1666A>T c.(1666-1668)Aaa>Taa p.K556* MDM1_ENST00000411698.2_Nonsense_Mutation_p.K521*|MDM1_ENST00000540418.1_Nonsense_Mutation_p.K276* NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 556 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) GTCATTCTTTTCCTCTGTTCT 0.353000 16 17 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45644818 45644818 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:45644818C>T ENST00000267430.5 + 14 2946 c.2861C>T c.(2860-2862)tCt>tTt p.S954F FANCM_ENST00000542564.2_Missense_Mutation_p.S928F NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 954 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GATGAAAAATCTGTTTCATCT 0.303000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 9 25 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51515851 51515851 + Silent SNP C C T rs140080586 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:51515851C>T ENST00000328188.1 + 1 570 c.570C>T c.(568-570)acC>acT p.T190T NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 190 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 GCACTGACACCCATATGCTGG 0.458000 28 42 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72991843 72991843 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:72991843G>A ENST00000268489.5 - 2 2874 c.2202C>T c.(2200-2202)tcC>tcT p.S734S ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 734 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TGGTAGTTGTGGAGTAGTTAC 0.557000 26 55 0 0 1 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151214995 151214995 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:151214995C>T ENST00000409426.1 + 13 2001 c.1556C>T c.(1555-1557)cCc>cTc p.P519L PIP5K1A_ENST00000368888.4_Missense_Mutation_p.P531L|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.P469L|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.P491L|PIP5K1A_ENST00000414290.2_Intron Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 531 phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) ATTCCTGACCCCAGTTTCTCA 0.448000 20 37 0 0 1 0 0 ESCO1 114799 broad.mit.edu 37 18 19153318 19153318 + Missense_Mutation SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:19153318A>G ENST00000269214.5 - 4 2424 c.1487T>C c.(1486-1488)tTg>tCg p.L496S NM_052911.2 NP_443143.2 Q5FWF5 ESCO1_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 1 496 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1) 35 CTGATTATCCAATGGTGGGTC 0.318000 15 47 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54849240 54849240 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:54849240C>T ENST00000291759.4 - 4 678 c.622G>A c.(622-624)Gaa>Aaa p.E208K NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 208 Ig-like C2-type 2. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TCACTGGGTTCCGACCACACG 0.557000 8 20 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152779954 152779954 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:152779954C>T ENST00000367255.5 - 22 3107 c.2506G>A c.(2506-2508)Gaa>Aaa p.E836K SYNE1_ENST00000367253.4_Missense_Mutation_p.E836K|SYNE1_ENST00000495090.2_Missense_Mutation_p.E403K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E843K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E836K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E836K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E843K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E843K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E826K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 836 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) GTGATAATTTCATTGATTTTC 0.398000 HNSCC(10;0.0054) 21 14 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900977 51900977 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:51900977C>T ENST00000268919.4 + 1 739 c.583C>T c.(583-585)Cgc>Tgc p.R195C NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 195 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CGAAGAGTATCGCAGGCACCT 0.577000 16 30 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26881369 26881369 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:26881369G>A ENST00000231021.4 - 12 2418 c.2246C>T c.(2245-2247)tCg>tTg p.S749L NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 749 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AGAACTGAGCGAATCTGCTAT 0.443000 24 35 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45303877 45303877 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:45303877G>A ENST00000303230.4 - 6 1499 c.1442C>T c.(1441-1443)cCt>cTt p.P481L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 481 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CACAAAATTAGGATCCGCATT 0.388000 29 48 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153697286 153697286 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:153697286C>T ENST00000369682.3 + 25 4583 c.4408C>T c.(4408-4410)Cgt>Tgt p.R1470C NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1470 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAAGCTCATCCGTCAGCAGAT 0.617000 28 34 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123593820 123593820 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:123593820G>A ENST00000340011.5 + 3 553 c.196G>A c.(196-198)Gag>Aag p.E66K SPAM1_ENST00000402183.2_Missense_Mutation_p.E66K|SPAM1_ENST00000439500.1_Missense_Mutation_p.E66K|SPAM1_ENST00000460182.1_Missense_Mutation_p.E66K|SPAM1_ENST00000223028.7_Missense_Mutation_p.E66K NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 66 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) AAAATTTGATGAGCCACTAGA 0.438000 15 23 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215916657 215916657 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:215916657G>A ENST00000366943.2 - 59 11796 c.11410C>T c.(11410-11412)Cct>Tct p.P3804S USH2A_ENST00000307340.3_Missense_Mutation_p.P3804S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3804 Fibronectin type-III 23. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.P3804S(1) 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) TACTCCACAGGAATTTCGGGG 0.403000 HNSCC(13;0.011) 11 36 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73066500 73066500 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:73066500G>A ENST00000429829.1 - 0 6088 NR_001564.2 TGCTGGAAGGGAAAAGTGGGG 0.473000 18 25 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3661037 3661037 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:3661037G>A ENST00000263087.4 - 9 1081 c.983C>T c.(982-984)tCc>tTc p.S328F NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 328 VWFA. cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CATTTTGGGGGAGTTGATGAC 0.587000 99 40 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107361691 107361691 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:107361691C>T ENST00000374779.2 - 1 97 c.4G>A c.(4-6)Gaa>Aaa p.E2K NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 TTTTCCCATTCCATTTTACTC 0.363000 16 7 0 0 1 0 0 HSPA4 3308 broad.mit.edu 37 5 132425303 132425303 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:132425303C>T ENST00000304858.2 + 11 1583 c.1294C>T c.(1294-1296)Ctt>Ttt p.L432F NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 432 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTCTAAAGTTCTTACATTTTA 0.388000 6 12 0 0 1 0 0 CHRNB3 1142 broad.mit.edu 37 8 42586954 42586954 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:42586954C>T ENST00000289957.2 + 5 632 c.504C>T c.(502-504)tcC>tcT p.S168S NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 168 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) AGAACTGCTCCATGAAGTTTG 0.478000 9 21 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101609019 101609019 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:101609019G>A ENST00000311812.2 - 10 976 c.826C>T c.(826-828)Cct>Tct p.P276S SNX31_ENST00000428383.2_Missense_Mutation_p.P177S NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 276 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) CAGGTACAAGGATCCAGCTGC 0.552000 31 62 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179579898 179579898 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:179579898A>T ENST00000589042.1 - 90 26239 c.26015T>A c.(26014-26016)tTt>tAt p.F8672Y TTN_ENST00000591111.1_Missense_Mutation_p.F8355Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.F7428Y NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8355 Ig-like 69. 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) AGAAACGTGAAATGGGGGAGT 0.433000 40 21 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2163267 2163267 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:2163267G>A ENST00000262304.4 - 12 3088 c.2880C>T c.(2878-2880)ggC>ggT p.G960G RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.G960G NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 960 PKD 4. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CCATGTCCGAGCCGGCCTCCA 0.607000 31 59 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44109471 44109471 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:44109471C>T ENST00000262419.6 - 14 3502 c.3032G>A c.(3031-3033)cGa>cAa p.R1011Q KANSL1_ENST00000575318.1_Missense_Mutation_p.R947Q|KANSL1_ENST00000432791.1_Missense_Mutation_p.R1011Q|KANSL1_ENST00000393476.3_Missense_Mutation_p.R305Q|KANSL1_ENST00000574590.1_Missense_Mutation_p.R1011Q|KANSL1_ENST00000572904.1_Missense_Mutation_p.R1011Q NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 1011 MLL1 complex protein binding GGCTAAGTGTCGCGGAGTGTC 0.602000 19 41 0 0 1 0 0 C10orf54 64115 broad.mit.edu 37 10 73511467 73511467 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:73511467G>A ENST00000394957.3 - 6 914 c.856C>T c.(856-858)Ctg>Ttg p.L286L CDH23_ENST00000224721.6_Intron NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 286 integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 GGAGGAGACAGGGGGGTGCTG 0.617000 10 4 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39884006 39884006 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:39884006C>T ENST00000341184.6 + 2 869 c.654C>T c.(652-654)ttC>ttT p.F218F NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 218 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity p.F218F(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) ACCACGAGTTCGACCTGCTGG 0.652000 9 35 0 0 1 0 0 ABCC6P1 653190 broad.mit.edu 37 16 18597254 18597254 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:18597254C>T ENST00000546162.2 + 0 994 NR_003569.1 GCAGTGCAGCCCGGGGGTAAG 0.552000 30 48 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069227 6069227 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:6069227G>A ENST00000381095.3 - 2 908 c.281C>T c.(280-282)cCg>cTg p.P94L NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P94L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P94L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.P94L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P94L NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 94 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 CCAGGAGGACGGGGGTTCTGG 0.582000 10 35 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160758022 160758022 + Silent SNP G G A rs79319310 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:160758022G>A ENST00000274547.2 - 9 1162 c.945C>T c.(943-945)ttC>ttT p.F315F GABRB2_ENST00000520240.1_Silent_p.F315F|GABRB2_ENST00000517547.1_Silent_p.F155F|GABRB2_ENST00000517901.1_Silent_p.F252F|GABRB2_ENST00000353437.6_Silent_p.F315F|GABRB2_ENST00000393959.1_Silent_p.F315F NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 315 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCATGAAAACGAAGACAAAGC 0.512000 22 33 0 0 1 0 0 ELMO2 63916 broad.mit.edu 37 20 45023111 45023111 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:45023111G>A ENST00000290246.6 - 3 205 c.11C>T c.(10-12)cCg>cTg p.P4L ELMO2_ENST00000439931.2_Missense_Mutation_p.P4L|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.P4L|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.P4L NM_133171.3 NP_573403.1 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 4 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) AATGTCTGACGGTGGTGGCAT 0.502000 10 22 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117706351 117706351 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:117706351C>T ENST00000276204.6 + 11 1175 c.1101C>T c.(1099-1101)ttC>ttT p.F367F DOCK11_ENST00000276202.7_Silent_p.F367F Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 367 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 ATAAACGTTTCCTGGTGAATT 0.348000 29 38 0 0 1 0 0 TRAJ23 28732 broad.mit.edu 37 14 22989426 22989426 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:22989426G>A ENST00000390514.1 + 0 33 GCTTATCTTCGGACAGGGAAC 0.413000 10 25 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59011961 59011961 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:59011961T>C ENST00000263093.2 - 5 1404 c.1295A>G c.(1294-1296)tAc>tGc p.Y432C SLC27A5_ENST00000601355.1_Missense_Mutation_p.Y348C NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 432 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) TGTGGAGCCGTAGACTTCCCA 0.602000 15 25 0 0 1 0 0 NAA25 80018 broad.mit.edu 37 12 112492208 112492208 + Missense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:112492208G>T ENST00000261745.4 - 14 1860 c.1612C>A c.(1612-1614)Cag>Aag p.Q538K NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 538 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 GTATCATGCTGGATATGCTTA 0.428000 11 21 2.27111e-07 2.28873e-07 1 1 0 KCNS3 3790 broad.mit.edu 37 2 18113687 18113687 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:18113687C>T ENST00000403915.1 + 3 1863 c.1412C>T c.(1411-1413)tCa>tTa p.S471L KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.S471L Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 471 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ACAGATGCTTCAAGCATTGAA 0.453000 18 12 0 0 1 0 0 ABCF3 55324 broad.mit.edu 37 3 183907652 183907652 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:183907652G>A ENST00000429586.2 + 14 1509 c.1324G>A c.(1324-1326)Gac>Aac p.D442N ABCF3_ENST00000292808.5_Missense_Mutation_p.D436N|EIF2B5_ENST00000444495.1_Intron NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 442 ATP binding|ATPase activity p.D442N(1) breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGTTTTCATTGACCGGTTTCG 0.572000 20 29 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124293344 124293344 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:124293344G>A ENST00000409039.3 + 18 2659 c.2633_splice c.e18-1 p.K878_splice NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 878 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CCCCTCTTAGGAACTTGCAGT 0.433000 58 101 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124420920 124420920 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:124420920G>A ENST00000360013.3 + 57 8159 c.8032G>A c.(8032-8034)Gaa>Aaa p.E2678K KALRN_ENST00000291478.4_Missense_Mutation_p.E981K|KALRN_ENST00000428018.2_Missense_Mutation_p.E949K NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2677 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TTCTTGGAAGGAAAATTTTGA 0.358000 16 22 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137271862 137271862 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:137271862C>T ENST00000453654.1 - 13 1045 c.506G>A c.(505-507)cGa>cAa p.R169Q DGKI_ENST00000288490.5_Missense_Mutation_p.R469Q|DGKI_ENST00000446122.1_Missense_Mutation_p.R469Q|DGKI_ENST00000424189.2_Missense_Mutation_p.R469Q O75912 DGKI_HUMAN diacylglycerol kinase, iota 469 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GTTGAGAGTTCGAGCCAGGTC 0.552000 22 31 0 0 1 0 0 RNF4 6047 broad.mit.edu 37 4 2515513 2515513 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:2515513C>T ENST00000511600.1 + 8 2055 c.540C>T c.(538-540)atC>atT p.I180I RNF4_ENST00000541204.1_Silent_p.I180I|RNF4_ENST00000314289.8_Silent_p.I180I|RNF4_ENST00000506706.1_Silent_p.I180I|RNF4_ENST00000511859.1_3'UTR P78317 RNF4_HUMAN ring finger protein 4 180 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance cytoplasm|PML body androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(2)|lung(1) 5 all_epithelial(65;0.241) GGAAAAAGATCAACCACAAAC 0.493000 31 30 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24775487 24775487 + Nonsense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:24775487A>T ENST00000221166.5 + 3 2901 c.2119A>T c.(2119-2121)Aag>Tag p.K707* NEFM_ENST00000518131.1_Intron|NEFM_ENST00000437366.2_Nonsense_Mutation_p.K668*|NEFM_ENST00000433454.2_Nonsense_Mutation_p.K331*|NEFM_ENST00000521540.1_Intron P07197 NFM_HUMAN neurofilament, medium polypeptide 707 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) ggaagaagaaaaggaagtcaa 0.453000 3 4 0 0 1 0 0 FOXRED2 80020 broad.mit.edu 37 22 36897341 36897341 + Missense_Mutation SNP G G A rs147376195 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:36897341G>A ENST00000397224.4 - 5 1256 c.1163C>T c.(1162-1164)tCg>tTg p.S388L FOXRED2_ENST00000397223.4_Missense_Mutation_p.S388L|FOXRED2_ENST00000216187.6_Missense_Mutation_p.S388L NM_001102371.1 NP_001095841.1 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 388 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GTAGTCCACCGAGTGGCTGGC 0.557000 33 31 0 0 1 0 0 COL13A1 1305 broad.mit.edu 37 10 71654431 71654431 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:71654431G>A ENST00000356340.3 + 10 1140 c.603_splice c.e10-1 p.G202_splice COL13A1_ENST00000398966.3_Splice_Site_p.G202_splice|COL13A1_ENST00000398972.3_Splice_Site_p.G202_splice|COL13A1_ENST00000354547.3_Splice_Site_p.G202_splice|COL13A1_ENST00000398974.3_Splice_Site_p.G190_splice|COL13A1_ENST00000520133.1_Splice_Site_p.G173_splice|COL13A1_ENST00000398969.3_Splice_Site_p.G164_splice|COL13A1_ENST00000398964.3_Splice_Site_p.G173_splice|COL13A1_ENST00000517713.1_Splice_Site_p.G202_splice|COL13A1_ENST00000357811.3_Splice_Site_p.G202_splice|COL13A1_ENST00000520267.1_Splice_Site_p.G164_splice|COL13A1_ENST00000398973.3_Splice_Site_p.G202_splice|COL13A1_ENST00000398971.3_Splice_Site_p.G202_splice|COL13A1_ENST00000398968.3_Splice_Site_p.G202_splice|COL13A1_ENST00000398978.3_Splice_Site_p.G202_splice|COL13A1_ENST00000522165.1_Splice_Site_p.G202_splice Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 202 Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) CTCTTTGTAGGGACCCCAGGG 0.498000 11 9 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1389812 1389812 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:1389812G>A ENST00000378785.2 + 4 1305 c.310G>A c.(310-312)Ggg>Agg p.G104R NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 104 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGCTCGGCTGGGGAAGCCGTC 0.677000 6 4 0 0 1 0 0 C16orf78 123970 broad.mit.edu 37 16 49430390 49430390 + Missense_Mutation SNP C C T rs146394582 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:49430390C>T ENST00000299191.3 + 4 568 c.451C>T c.(451-453)Cgt>Tgt p.R151C NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 151 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 AAACCCATTCCGTCGACAAAG 0.493000 12 23 0 0 1 0 0 CFI 3426 broad.mit.edu 37 4 110662121 110662121 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:110662121G>A ENST00000394634.2 - 13 1887 c.1680C>T c.(1678-1680)acC>acT p.T560T CFI_ENST00000512148.1_Silent_p.T553T|CFI_ENST00000394635.3_Silent_p.T568T NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 560 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TGGCCACTTTGGTGTAAACAC 0.418000 56 73 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404341 197404341 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:197404341C>T ENST00000367397.1 + 5 2349 c.1491C>T c.(1489-1491)ttC>ttT p.F497F CRB1_ENST00000367400.3_Silent_p.F1116F|CRB1_ENST00000367399.2_Silent_p.F1004F|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Silent_p.F1092F|CRB1_ENST00000544212.1_Silent_p.F597F P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1116 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTCATGGTTTCATTAATAAAC 0.398000 19 28 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82817840 82817840 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:82817840G>A ENST00000265077.3 + 7 4280 c.3715G>A c.(3715-3717)Gaa>Aaa p.E1239K VCAN_ENST00000342785.4_Missense_Mutation_p.E1239K|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E1191K|VCAN_ENST00000343200.5_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1239 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CATCGACAGGGAACCTGGTGA 0.443000 23 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584856 179584856 + Missense_Mutation SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:179584856T>A ENST00000589042.1 - 81 23737 c.23513A>T c.(23512-23514)gAg>gTg p.E7838V TTN_ENST00000591111.1_Missense_Mutation_p.E7521V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6594V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7521 Ig-like 60. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTTCACTCTCTCTGATGAC 0.433000 17 4 0 0 1 0 0 MIR519A2 574500 broad.mit.edu 37 19 54265621 54265621 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:54265621G>A ENST00000384990.1 + 0 24 NR_030222.1 CCCTCTACAGGGAAGCGCTTT 0.413000 41 64 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40265894 40265894 + Missense_Mutation SNP A A C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:40265894A>C ENST00000263791.5 + 11 1805 c.1762A>C c.(1762-1764)Att>Ctt p.I588L EIF2AK4_ENST00000382727.2_Missense_Mutation_p.I588L|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.I588L NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 588 translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CCGATACTTCATTGAGTTTGA 0.443000 37 40 0 0 1 0 0 TRIP4 9325 broad.mit.edu 37 15 64717750 64717750 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:64717750C>T ENST00000261884.3 + 11 1555 c.1495C>T c.(1495-1497)Cct>Tct p.P499S NM_016213.4 NP_057297.2 Q15650 TRIP4_HUMAN thyroid hormone receptor interactor 4 499 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 TGTGGAATTTCCTAATGACTA 0.363000 11 33 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149489531 149489531 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:149489531G>A ENST00000378016.2 + 0 5684 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGCCAAGACGGACGGCCCCGA 0.692000 12 11 0 0 1 0 0 IGHA1 3493 broad.mit.edu 37 14 106173632 106173632 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:106173632G>A ENST00000390547.2 - 0 934 CACCATGCAGGAGAAGGTGTC 0.632000 11 57 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9077720 9077720 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:9077720C>T ENST00000397910.4 - 3 9929 c.9726G>A c.(9724-9726)gtG>gtA p.V3242V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3243 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 TGACTGGTTCCACTGTGGTCT 0.532000 46 57 0 0 1 0 0 EIF2D 1939 broad.mit.edu 37 1 206772888 206772888 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:206772888G>A ENST00000271764.2 - 10 1339 c.1131C>T c.(1129-1131)caC>caT p.H377H EIF2D_ENST00000367114.3_Silent_p.H253H NM_006893.2 NP_008824.2 P41214 EIF2D_HUMAN eukaryotic translation initiation factor 2D 377 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 TATCTGGAGGGTGATAGGGCT 0.542000 20 33 0 0 1 0 0 OR52E2 119678 broad.mit.edu 37 11 5080594 5080594 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:5080594C>T ENST00000321522.2 - 1 263 c.264G>A c.(262-264)tgG>tgA p.W88* NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W88*(1) endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) TGAGGTTGATCCAGAAGATTC 0.498000 8 12 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32630123 32630123 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:32630123C>T ENST00000242310.4 - 1 5544 c.5455G>A c.(5455-5457)Gaa>Aaa p.E1819K NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1819 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCCTTGTGTTCTCCTGAAGCA 0.478000 14 20 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7412718 7412718 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:7412718G>A ENST00000399429.3 - 32 2959 c.2819C>T c.(2818-2820)cCc>cTc p.P940L NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 940 VWFA 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TTCAAAGTTGGGATCATTTTT 0.403000 18 24 0 0 1 0 0 MIB1 57534 broad.mit.edu 37 18 19353597 19353597 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:19353597C>T ENST00000261537.6 + 4 808 c.544C>T c.(544-546)Cag>Tag p.Q182* MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 182 MIB/HERC2 2. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) AACAGAAATCCAGGACTGGAG 0.378000 9 11 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155200466 155200466 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:155200466C>T ENST00000460012.1 - 23 3616 c.3259G>A c.(3259-3261)Gga>Aga p.G1087R PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1125R|PLCH1_ENST00000334686.6_Missense_Mutation_p.G1087R|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1087R|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1125 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGGACGCTTCCTGACAAGATG 0.458000 21 25 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32911141 32911141 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:32911141C>T ENST00000544455.1 + 11 2876 c.2649C>T c.(2647-2649)ttC>ttT p.F883F BRCA2_ENST00000380152.3_Silent_p.F883F NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 883 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAGAACTTTTCTCAGACAATG 0.308000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 11 34 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20946802 20946802 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:20946802C>T ENST00000261383.3 - 61 11864 c.11865G>A c.(11863-11865)tgG>tgA p.W3955* DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3955 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCTTGTCAATCCATTCCTGGA 0.383000 9 11 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42635279 42635279 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:42635279G>A ENST00000358131.5 + 3 493 c.285G>A c.(283-285)ggG>ggA p.G95G TOX2_ENST00000423191.1_Silent_p.G44G|TOX2_ENST00000341197.3_Silent_p.G86G|TOX2_ENST00000372999.1_Silent_p.G44G NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 95 Required for transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) TGCACCTGGGGGACCACGAAG 0.607000 18 35 0 0 1 0 0 CDC5L 988 broad.mit.edu 37 6 44364086 44364086 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:44364086G>A ENST00000371477.3 + 5 747 c.448G>A c.(448-450)Gag>Aag p.E150K NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 150 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGATGAACTTGAGATGCTTTC 0.383000 18 43 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75051376 75051376 + Missense_Mutation SNP G G C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:75051376G>C ENST00000453279.2 - 13 3023 c.2159C>G c.(2158-2160)cCa>cGa p.P720R POM121C_ENST00000257665.5_Missense_Mutation_p.P962R NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 962 Pore side (Potential). P -> L (in Ref. 2; BC082993). mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 GGTAAGGGCTGGCTTGGCGGC 0.657000 8 20 0 0 1 0 0 DRP2 1821 broad.mit.edu 37 X 100490865 100490865 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:100490865C>T ENST00000395209.3 + 4 661 c.134C>T c.(133-135)aCc>aTc p.T45I DRP2_ENST00000538510.1_Missense_Mutation_p.T45I|DRP2_ENST00000402866.1_Missense_Mutation_p.T45I|DRP2_ENST00000541709.1_5'UTR NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 45 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 GCTGCTGTCACCAGCCCTGCA 0.562000 36 79 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508130 71508130 + Silent SNP T T G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:71508130T>G ENST00000396073.3 + 9 1268 c.987T>G c.(985-987)ccT>ccG p.P329P ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 329 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) GAAATTTTCCTTCAGGAAGAC 0.448000 31 34 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648492 130648492 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:130648492C>T ENST00000539839.1 + 1 1489 c.907C>T c.(907-909)Cct>Tct p.P303S FZD10_ENST00000229030.4_Silent_p.F335F NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TCACCTGGTTCCTGGCCGCCG 0.647000 13 26 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43836177 43836177 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:43836177G>A ENST00000372781.3 + 2 296 c.239G>A c.(238-240)cGa>cAa p.R80Q SEMG1_ENST00000244069.6_Missense_Mutation_p.R80Q NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) GACCAGTCCCGAAAAAGTCAG 0.388000 23 35 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64599047 64599047 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:64599047C>T ENST00000357395.3 + 78 14704 c.3560C>T c.(3559-3561)cCt>cTt p.P1187L SYNE2_ENST00000344113.4_Missense_Mutation_p.P4802L|SYNE2_ENST00000555002.1_Missense_Mutation_p.P1436L|SYNE2_ENST00000394768.2_Missense_Mutation_p.P1187L|SYNE2_ENST00000554584.1_Missense_Mutation_p.P4719L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.P4802L Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4802 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAAATACTTCCTTCTTTATTG 0.358000 20 41 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059370 9059370 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:9059370C>T ENST00000397910.4 - 3 28279 c.28076G>A c.(28075-28077)aGg>aAg p.R9359K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9361 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 TGATTCTTTCCTTGTGAGGGG 0.512000 35 43 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578370 7578370 + Splice_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:7578370C>T ENST00000420246.2 - 5 692 c.e5+1 TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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) CAGCTGCTCACCATCGCTATC 0.632000 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) 16 8 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55532214 55532214 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:55532214G>A ENST00000219070.4 + 11 2132 c.1623G>A c.(1621-1623)tgG>tgA p.W541* MMP2_ENST00000437642.2_Nonsense_Mutation_p.W491*|MMP2_ENST00000543485.1_Nonsense_Mutation_p.W465*|MMP2_ENST00000570308.1_Nonsense_Mutation_p.W465* NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 541 Hemopexin-like 2.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) ATGAATACTGGATCTACTCAG 0.607000 26 23 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144990869 144990869 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:144990869G>A ENST00000322810.4 - 32 13700 c.13531C>T c.(13531-13533)Ctg>Ttg p.L4511L PLEC_ENST00000527096.1_Silent_p.L4397L|PLEC_ENST00000398774.2_Silent_p.L4342L|PLEC_ENST00000356346.3_Silent_p.L4360L|PLEC_ENST00000354589.3_Silent_p.L4374L|PLEC_ENST00000354958.2_Silent_p.L4352L|PLEC_ENST00000357649.2_Silent_p.L4378L|PLEC_ENST00000345136.3_Silent_p.L4374L|PLEC_ENST00000436759.2_Silent_p.L4401L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4511 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 CCCTTCTTCAGGGCCTGGGCG 0.667000 16 34 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50985814 50985814 + Missense_Mutation SNP G G A rs150938467 byFrequency TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:50985814G>A ENST00000442544.2 + 24 4221 c.3605G>A c.(3604-3606)aGc>aAc p.S1202N DCC_ENST00000581580.1_Missense_Mutation_p.S837N NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1202 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.S1202I(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GGAAGCAAAAGCACCTCTCAT 0.478000 26 37 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940318 144940318 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:144940318G>A ENST00000525985.1 - 2 7175 c.7104C>T c.(7102-7104)ttC>ttT p.F2368F P58107 EPIPL_HUMAN epiplakin 1 2368 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCTCCTCGTCGAAGTAGCCGC 0.682000 12 410 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303402 151303402 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:151303402G>A ENST00000370323.4 - 4 1007 c.691C>T c.(691-693)Cta>Tta p.L231L RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.L231L NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 231 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ACTATGCTTAGGATAAGTATG 0.512000 21 19 0 0 1 0 0 RPAP2 79871 broad.mit.edu 37 1 92789349 92789349 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:92789349C>T ENST00000370343.3 + 8 981 c.872C>T c.(871-873)cCt>cTt p.P291L RPAP2_ENST00000484158.1_3'UTR NM_024813.2 NP_079089.2 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 291 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 22 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) TGTGAACTTCCTTTACAGAAA 0.363000 21 41 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45920565 45920565 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:45920565G>A ENST00000374391.2 + 6 872 c.819G>A c.(817-819)ttG>ttA p.L273L ALOX5_ENST00000542434.1_Silent_p.L273L NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 273 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) AGCTCAGCTTGGAGCAGGAGG 0.627000 9 4 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736453 140736453 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140736453C>T ENST00000571252.1 + 1 1686 c.1686C>T c.(1684-1686)atC>atT p.I562I PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCTGAGATCCTGTACCCCA 0.582000 70 109 0 0 1 0 0 LRRFIP1 9208 broad.mit.edu 37 2 238671675 238671675 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:238671675C>T ENST00000244815.5 + 10 1487 c.1247C>T c.(1246-1248)tCg>tTg p.S416L LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S384L|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.S440L|LRRFIP1_ENST00000308482.9_Intron NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 440 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) ACAGTGGCCTCGTGTCCTTTA 0.498000 21 13 0 0 1 0 0 ZNF627 199692 broad.mit.edu 37 19 11725687 11725687 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:11725687C>T ENST00000361113.5 + 3 384 c.176C>T c.(175-177)cCc>cTc p.P59L ZNF627_ENST00000588174.1_Missense_Mutation_p.P59L NM_145295.3 NP_660338.1 Q7L945 ZN627_HUMAN zinc finger protein 627 59 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 TTCAAAATTCCCAGGAGAAAT 0.289000 3 10 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160276187 160276187 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:160276187G>A ENST00000241704.7 - 15 1628 c.1399C>T c.(1399-1401)Cga>Tga p.R467* COPA_ENST00000368069.3_Nonsense_Mutation_p.R467* NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 467 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCCGCATCTCGAAGCAGGAGA 0.493000 27 39 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174385 150174385 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:150174385G>A ENST00000307271.3 + 5 2089 c.1515G>A c.(1513-1515)aaG>aaA p.K505K NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 505 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) ATGTCGAAAAGGACCCATCCC 0.542000 16 19 0 0 1 0 0 CIDEA 1149 broad.mit.edu 37 18 12277249 12277249 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:12277249G>A ENST00000320477.9 + 5 705 c.640G>A c.(640-642)Ggc>Agc p.G214S CIDEA_ENST00000521296.1_3'UTR NM_001279.3 NP_001270.1 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a 214 DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 ACAAGCCAAGGGCAGGTTCAC 0.547000 19 25 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28270426 28270426 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:28270426G>A ENST00000305242.5 - 7 997 c.905C>T c.(904-906)tCa>tTa p.S302L ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.S159L|ARMC4_ENST00000537576.1_5'UTR NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 302 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 AAATTTTGGTGATTTTTCTCT 0.294000 18 10 0 0 1 0 0 C11orf53 341032 broad.mit.edu 37 11 111156556 111156556 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:111156556C>T ENST00000280325.4 + 4 635 c.488C>T c.(487-489)tCg>tTg p.S163L NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 163 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) CAGTCATACTCGCTGCATGCT 0.627000 22 47 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8418477 8418477 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:8418477G>A ENST00000337907.3 - 21 4752 c.4118C>T c.(4117-4119)cCc>cTc p.P1373L RERE_ENST00000476556.1_Missense_Mutation_p.P819L|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.P1105L|RERE_ENST00000400908.2_Missense_Mutation_p.P1373L NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1373 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CCTCTCCAAGGGGTTCAGGCC 0.692000 4 11 0 0 1 0 0 CXorf36 79742 broad.mit.edu 37 X 45013411 45013411 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:45013411G>A ENST00000398000.2 - 4 779 c.705C>T c.(703-705)ccC>ccT p.P235P CXorf36_ENST00000477281.1_Intron NM_176819.3 NP_789789.2 Q9H7Y0 CX036_HUMAN chromosome X open reading frame 36 235 extracellular region endometrium(1)|large_intestine(2)|lung(4) 7 CCAGGTACTTGGGCAGCGGCC 0.557000 9 11 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44934627 44934627 + Missense_Mutation SNP T T G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:44934627T>G ENST00000291187.4 - 6 633 c.311A>C c.(310-312)gAa>gCa p.E104A ZNF229_ENST00000588931.1_Missense_Mutation_p.E110A|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 110 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TGCCACCTCTTCCCAGATTTT 0.443000 17 23 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105405414 105405414 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:105405414G>A ENST00000333244.5 - 7 16493 c.16374C>T c.(16372-16374)ccC>ccT p.P5458P AHNAK2_ENST00000557457.1_Silent_p.P456P NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5458 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTGAAATTGGGGGAGCTTCCA 0.537000 6 4 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037700 75037700 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:75037700C>T ENST00000326665.5 - 14 3912 c.3694G>A c.(3694-3696)Ggg>Agg p.G1232R C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1232 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 GGGATCAGCCCCTCAGGGGCC 0.632000 36 40 0 0 1 0 0 FGR 2268 broad.mit.edu 37 1 27949654 27949654 + Splice_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:27949654C>T ENST00000374005.3 - 4 516 c.226_splice c.e4-1 p.G76_splice FGR_ENST00000545953.1_Splice_Site_p.G76_splice|FGR_ENST00000374004.1_Splice_Site_p.G76_splice|FGR_ENST00000399173.1_Splice_Site_p.G76_splice NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 76 platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity p.G76G(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TCACCCCAATCCCTGCAGAGT 0.572000 3 13 0 0 1 0 0 RFTN1 23180 broad.mit.edu 37 3 16368346 16368346 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:16368346T>C ENST00000334133.4 - 8 1456 c.1184A>G c.(1183-1185)aAc>aGc p.N395S RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000435829.2_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.N359S|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000605932.1_Intron NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 395 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 CGCCAGCGAGTTCAGCAGGGG 0.547000 17 15 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19428074 19428074 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:19428074C>T ENST00000338883.4 - 12 1715 c.1716G>A c.(1714-1716)tgG>tgA p.W572* MAP3K15_ENST00000359173.3_Nonsense_Mutation_p.W7*|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Nonsense_Mutation_p.W404* NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 572 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CTGTAAAATTCCATTCGTGCA 0.299000 5 20 0 0 1 0 0 ZNF74 7625 broad.mit.edu 37 22 20760067 20760067 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:20760067C>T ENST00000400451.2 + 5 1258 c.744C>T c.(742-744)ttC>ttT p.F248F ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Silent_p.F248F|ZNF74_ENST00000405993.1_Silent_p.F216F NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 248 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) AGGGCGAGTTCGTGTGCGGCG 0.687000 6 6 0 0 1 0 0 PRSS23 11098 broad.mit.edu 37 11 86518725 86518725 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:86518725C>T ENST00000280258.5 + 2 465 c.40C>T c.(40-42)Ctg>Ttg p.L14L PRSS23_ENST00000441050.1_Silent_p.L14L|PRSS23_ENST00000533902.2_Intron NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 14 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TCTCTTCTTTCTGCTCTGTGC 0.567000 36 60 0 0 1 0 0 RBCK1 10616 broad.mit.edu 37 20 409599 409599 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:409599T>C ENST00000356286.5 + 11 2018 c.1313T>C c.(1312-1314)aTg>aCg p.M438T RBCK1_ENST00000382181.2_Missense_Mutation_p.M268T|RBCK1_ENST00000353660.3_Missense_Mutation_p.M396T NM_031229.2 NP_112506.2 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 1 438 interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(1)|lung(4) 5 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) CTCCAGGTGATGCTGCAGCAG 0.687000 6 10 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123847857 123847857 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:123847857A>T ENST00000531945.1 - 1 631 c.542T>A c.(541-543)cTc>cAc p.L181H NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 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;0.0399) CCCACAGTAGAGCAGGCGGAA 0.547000 16 30 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10101995 10101995 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:10101995G>A ENST00000287647.3 + 19 1767 c.1674G>A c.(1672-1674)gtG>gtA p.V558V FANCD2_ENST00000383806.1_Silent_p.V558V|FANCD2_ENST00000383807.1_Silent_p.V558V|FANCD2_ENST00000419585.1_Silent_p.V558V NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 558 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TGCACTTGGTGATAAGAAAGC 0.458000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 11 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67836252 67836252 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:67836252A>T ENST00000255674.6 - 12 1814 c.1528T>A c.(1528-1530)Ttg>Atg p.L510M RTTN_ENST00000437017.1_Missense_Mutation_p.L510M|RTTN_ENST00000454359.1_Missense_Mutation_p.L510M NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 510 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GGCATGTCCAAAGAAAGGAGA 0.313000 10 20 0 0 1 0 0 CASC3 22794 broad.mit.edu 37 17 38324456 38324456 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:38324456G>A ENST00000264645.7 + 11 1977 c.1750_splice c.e11-1 p.G584_splice NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 584 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 CCTTATCCAGGTTTACATCCC 0.498000 OREG0024392 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 73 0 0 1 0 0 OR2B6 26212 broad.mit.edu 37 6 27925746 27925746 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:27925746C>T ENST00000244623.1 + 1 728 c.728C>T c.(727-729)tCc>tTc p.S243F NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ACATGTGGTTCCCATCTAATT 0.458000 32 104 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5969351 5969351 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:5969351C>T ENST00000329564.6 + 1 782 c.775C>T c.(775-777)Ctt>Ttt p.L259F NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGCACCATCCTTCTGGTTTT 0.522000 56 81 0 0 1 0 0 COQ4 51117 broad.mit.edu 37 9 131085313 131085313 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:131085313G>A ENST00000300452.3 + 2 412 c.89G>A c.(88-90)aGg>aAg p.R30K COQ4_ENST00000372875.3_Missense_Mutation_p.R30K NM_016035.3 NP_057119.2 Q9Y3A0 COQ4_HUMAN coenzyme Q4 30 ubiquinone biosynthetic process mitochondrial inner membrane endometrium(4)|large_intestine(1)|lung(4) 9 CTCCGGGCTAGGAGCGACGGC 0.706000 26 12 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 77859208 77859208 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:77859208G>A ENST00000302536.2 + 3 582 c.429G>A c.(427-429)gtG>gtA p.V143V NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 143 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GCACACCAGTGGAGTTTGTCT 0.512000 12 27 0 0 1 0 0 CACNG6 59285 broad.mit.edu 37 19 54515331 54515331 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:54515331G>A ENST00000252729.2 + 4 1261 c.671G>A c.(670-672)gGc>gAc p.G224D CACNG6_ENST00000346968.2_Missense_Mutation_p.G178D|CACNG6_ENST00000352529.1_Missense_Mutation_p.G153D NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 224 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CTGGGCTGCGGCGTGGGGGCC 0.706000 29 55 0 0 1 0 0 SYNPR 132204 broad.mit.edu 37 3 63466543 63466543 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:63466543C>T ENST00000478300.1 + 3 531 c.120C>T c.(118-120)ggC>ggT p.G40G SYNPR_ENST00000460711.1_Silent_p.G31G|SYNPR-AS1_ENST00000488201.1_RNA|SYNPR_ENST00000479198.1_Silent_p.G20G|SYNPR_ENST00000295894.5_Silent_p.G20G|SYNPR_ENST00000465156.1_Silent_p.G20G|SYNPR_ENST00000478744.1_3'UTR NM_001130003.1 NP_001123475.1 Q8TBG9 SYNPR_HUMAN synaptoporin 20 MARVEL. cell junction|integral to membrane|synaptic vesicle membrane|synaptosome transporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904) CATGCGGTGGCTATTCTGGAG 0.443000 33 56 0 0 1 0 0 STEAP2 261729 broad.mit.edu 37 7 89861917 89861917 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:89861917G>A ENST00000287908.3 + 5 1845 c.1452G>A c.(1450-1452)ccG>ccA p.P484P STEAP2_ENST00000394626.1_Intron|STEAP2_ENST00000394629.2_Intron|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394621.2_Silent_p.P484P|STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000394622.2_Silent_p.P484P NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 484 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity p.P484P(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) ATGTCTCCCCGGAGAGGGTCA 0.403000 7 16 0 0 1 0 0 FOXC2 2303 broad.mit.edu 37 16 86602438 86602438 + Silent SNP G G A rs148657129 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:86602438G>A ENST00000320354.4 + 1 1582 c.1497G>A c.(1495-1497)acG>acA p.T499T NM_005251.2 NP_005242.1 Q99958 FOXC2_HUMAN forkhead box C2 (MFH-1, mesenchyme forkhead 1) 499 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 ACGACTGCACGAAATACTGAC 0.647000 Late-onset Hereditary Lymphedema 12 21 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121348903 121348903 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:121348903G>A ENST00000260197.7 + 3 608 c.479G>A c.(478-480)aGt>aAt p.S160N SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 160 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GGAAATAGGAGTGAAGCTGTT 0.473000 9 12 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5243950 5243950 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:5243950G>A ENST00000372412.4 - 11 1768 c.1535C>T c.(1534-1536)cCc>cTc p.P512L PTPRS_ENST00000592099.1_Missense_Mutation_p.P498L|PTPRS_ENST00000587303.1_Missense_Mutation_p.P511L|PTPRS_ENST00000357368.4_Missense_Mutation_p.P511L|PTPRS_ENST00000353284.2_Missense_Mutation_p.P498L|PTPRS_ENST00000348075.2_Missense_Mutation_p.P498L|PTPRS_ENST00000262963.6_Missense_Mutation_p.P507L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.P498L Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 511 Fibronectin type-III 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.P511L(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GTCCGAGAGGGGCCCGTCGCC 0.692000 5 9 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33504104 33504104 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:33504104G>A ENST00000268876.5 + 16 2197 c.2100G>A c.(2098-2100)aaG>aaA p.K700K UNC45B_ENST00000378449.1_Silent_p.K619K|UNC45B_ENST00000394570.2_Silent_p.K698K|UNC45B_ENST00000433649.1_Silent_p.K698K|UNC45B_ENST00000591048.1_Silent_p.K619K NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 700 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CTCTAGCAAAGATCGCTGCTG 0.567000 47 44 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2779094 2779094 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:2779094G>A ENST00000380605.2 - 3 494 c.430C>T c.(430-432)Cga>Tga p.R144* NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 144 F5/8 type C. cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 AGCCGTCCTCGGTGTGGTCCA 0.612000 19 28 0 0 1 0 0 APAF1 317 broad.mit.edu 37 12 99126212 99126212 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:99126212C>T ENST00000333991.1 + 8 1547 c.970C>T c.(970-972)Cac>Tac p.H324Y APAF1_ENST00000550527.1_Silent_p.V1194V|APAF1_ENST00000551964.1_Silent_p.V1205V|APAF1_ENST00000339433.3_Silent_p.V1120V|APAF1_ENST00000357310.1_Silent_p.V1162V|APAF1_ENST00000549007.1_Silent_p.V1120V|APAF1_ENST00000359972.2_Silent_p.V1151V|APAF1_ENST00000547045.1_Silent_p.V1162V|APAF1_ENST00000552268.1_Missense_Mutation_p.H324Y NM_181869.1 NP_863659.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 327 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) GGAACGTTGTCACTGGGGAAT 0.388000 8 15 0 0 1 0 0 SYVN1 84447 broad.mit.edu 37 11 64897788 64897788 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:64897788G>A ENST00000526060.1 - 12 1361 c.1169C>T c.(1168-1170)cCc>cTc p.P390L SYVN1_ENST00000377190.3_Missense_Mutation_p.P390L|SYVN1_ENST00000307289.6_Missense_Mutation_p.P339L|SYVN1_ENST00000294256.8_Missense_Mutation_p.P390L Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 390 Pro-rich. ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 AGGTGGAAAGGGGCCCATGGG 0.642000 4 5 0 0 1 0 0 FBXL17 64839 broad.mit.edu 37 5 107216803 107216803 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:107216803C>T ENST00000542267.1 - 8 2306 c.1900G>A c.(1900-1902)Gga>Aga p.G634R FBXL17_ENST00000496714.1_Missense_Mutation_p.G236R|FBXL17_ENST00000359660.5_Missense_Mutation_p.G236R NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 634 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) AGGGTGGCTCCTTGGTCTGTG 0.453000 38 49 0 0 1 0 0 GPHN 10243 broad.mit.edu 37 14 67589053 67589053 + Silent SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:67589053A>G ENST00000478722.1 + 17 2828 c.1707A>G c.(1705-1707)gaA>gaG p.E569E GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Silent_p.E582E|GPHN_ENST00000305960.9_Silent_p.E505E|GPHN_ENST00000315266.5_Silent_p.E536E NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 536 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) CAATTCAGGAACATGGTTACC 0.388000 T MLL AL 11 22 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155507510 155507510 + Silent SNP G G T rs6051 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:155507510G>T ENST00000302053.3 - 5 1149 c.1071C>A c.(1069-1071)acC>acA p.T357T FGA_ENST00000403106.3_Silent_p.T357T NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 357 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TCCAGGTTCCGGTACTACCAG 0.552000 34 52 8.4185e-14 8.55012e-14 1 1 0 IGLV2-33 28811 broad.mit.edu 37 22 22931012 22931012 + RNA SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:22931012T>A ENST00000390302.2 + 0 265 GACTCCTGATTTACAATGTCA 0.527000 72 132 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167653130 167653130 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:167653130C>T ENST00000519204.1 + 23 4901 c.4783C>T c.(4783-4785)Ccc>Tcc p.P1595S TENM2_ENST00000403607.2_Missense_Mutation_p.P1540S|TENM2_ENST00000518659.1_Missense_Mutation_p.P1716S|TENM2_ENST00000545108.1_Missense_Mutation_p.P1715S|TENM2_ENST00000520394.1_Missense_Mutation_p.P1477S teneurin transmembrane protein 2 CGTGACGCGCCCCACGGGGGT 0.522000 5 8 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111019941 111019941 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:111019941G>A ENST00000262839.2 - 11 3440 c.2522C>T c.(2521-2523)tCt>tTt p.S841F NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 841 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TTTCTTGAGAGAAGGACCCAT 0.468000 31 50 0 0 1 0 0 MRPL2 51069 broad.mit.edu 37 6 43025923 43025923 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:43025923G>A ENST00000388752.3 - 2 569 c.145C>T c.(145-147)Ccc>Tcc p.P49S MRPL2_ENST00000230413.5_Missense_Mutation_p.P49S|MRPL2_ENST00000468957.1_Missense_Mutation_p.P49S|MRPL2_ENST00000487429.1_Missense_Mutation_p.P84L|MRPL2_ENST00000489623.1_Missense_Mutation_p.P49S NM_015950.3 NP_057034.2 Q5T653 RM02_HUMAN mitochondrial ribosomal protein L2 49 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2) 9 Ovarian(999;0.0014) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442) BRCA - Breast invasive adenocarcinoma(397;0.0026) GGGCGGCAGGGGAGCAACATC 0.468000 27 66 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94088083 94088083 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:94088083C>T ENST00000553484.1 + 31 4724 c.4570C>T c.(4570-4572)Ctt>Ttt p.L1524F UNC79_ENST00000555664.1_Missense_Mutation_p.L1502F|UNC79_ENST00000256339.4_Missense_Mutation_p.L1325F|UNC79_ENST00000393151.2_Missense_Mutation_p.L1502F Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1502 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ACAAAAATCTCTTGATATAGG 0.433000 16 42 0 0 1 0 0 PHLDB3 653583 broad.mit.edu 37 19 43979574 43979574 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:43979574G>A ENST00000292140.5 - 16 2271 c.1911C>T c.(1909-1911)aaC>aaT p.N637N NM_198850.3 NP_942147.3 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, member 3 637 breast(1)|central_nervous_system(1)|lung(5) 7 Prostate(69;0.0153) AGGGGGCGTGGTTTTCGTCAG 0.672000 16 15 0 0 1 0 0 RPN2 6185 broad.mit.edu 37 20 35865053 35865053 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:35865053C>T ENST00000237530.6 + 16 2135 c.1824C>T c.(1822-1824)atC>atT p.I608I RPN2_ENST00000470352.1_3'UTR|RPN2_ENST00000373622.5_Silent_p.I576I NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 608 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) ACCTGGCCATCCTGGGCAGTG 0.522000 20 19 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80388641 80388641 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:80388641C>T ENST00000265080.4 + 10 1479 c.1412C>T c.(1411-1413)tCc>tTc p.S471F NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 471 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity p.S471F(1) biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CAAGTACCTTCCGTTGAGAGG 0.373000 18 37 0 0 1 0 0 ZNF280C 55609 broad.mit.edu 37 X 129373651 129373651 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:129373651G>A ENST00000370978.4 - 6 551 c.398C>T c.(397-399)tCa>tTa p.S133L NM_017666.4 NP_060136.1 Q8ND82 Z280C_HUMAN zinc finger protein 280C 133 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 TCCAACTTGTGAATTCTTTGT 0.294000 8 15 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179613203 179613203 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:179613203C>T ENST00000360870.5 - 46 14146 c.13924G>A c.(13924-13926)Gaa>Aaa p.E4642K TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 756 Ig-like 26. 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) TAATGTATTTCCTGCTGTTCC 0.368000 35 19 0 0 1 0 0 TRIM31 11074 broad.mit.edu 37 6 30078327 30078327 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:30078327C>T ENST00000376734.3 - 4 767 c.642G>A c.(640-642)ggG>ggA p.G214G TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Silent_p.G214G|TRIM31_ENST00000485864.1_5'UTR NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 214 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 CATAGTGTTTCCCCGCTTCCG 0.512000 37 98 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85701308 85701308 + Missense_Mutation SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:85701308T>A ENST00000322366.6 - 26 4725 c.4318A>T c.(4318-4320)Agt>Tgt p.S1440C WDFY3_ENST00000295888.4_Missense_Mutation_p.S1440C Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1440 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AGTGGGTTACTCTTGACCACA 0.502000 39 72 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47272937 47272937 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:47272937C>T ENST00000377073.3 + 4 1551 c.1465C>T c.(1465-1467)Cag>Tag p.Q489* NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 489 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 CACAGAACATCAGAGAACTCA 0.488000 21 17 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67431903 67431903 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:67431903C>T ENST00000349015.3 - 8 1275 c.837G>A c.(835-837)aaG>aaA p.K279K ALDH3B2_ENST00000530069.1_Silent_p.K279K NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 279 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) GGGCCAGGGGCTTCTCCTGCC 0.642000 31 70 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42163550 42163550 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:42163550C>T ENST00000444063.1 + 13 1655 c.1523C>T c.(1522-1524)tCc>tTc p.S508F L3MBTL1_ENST00000373134.1_Missense_Mutation_p.S508F|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.S508F|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.S576F|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.S576F Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 508 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 GGCTGGTGCTCCAAGACAGGA 0.557000 7 14 0 0 1 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159820620 159820620 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:159820620C>T ENST00000497452.1 - 0 517 CATACTTTTTCATTCTTAACT 0.299000 7 8 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35743124 35743124 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:35743124G>A ENST00000400445.3 + 25 4768 c.4233_splice c.e25-1 p.G1412_splice NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 1412 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCATGTCCAGGGTTCTAAGGT 0.249000 9 38 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2824233 2824233 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:2824233C>T ENST00000520002.1 - 59 9517 c.8962G>A c.(8962-8964)Gga>Aga p.G2988R CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2987R|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2988R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2988 Sushi 23. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACAATCATTCCGTTGGTGGGT 0.527000 5 10 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110862343 110862343 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:110862343C>T ENST00000375820.4 - 10 720 c.599G>A c.(598-600)gGa>gAa p.G200E COL4A1_ENST00000543140.1_Missense_Mutation_p.G200E NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 200 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TCCGGTAAATCCTGGAGGCCC 0.453000 38 16 0 0 1 0 0 SLC6A14 11254 broad.mit.edu 37 X 115584239 115584239 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:115584239C>T ENST00000371900.4 + 9 1305 c.1217C>T c.(1216-1218)cCa>cTa p.P406L NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 406 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) CCAGGTGGTCCATTTTGGTCC 0.363000 17 33 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546884 11546884 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:11546884C>T ENST00000389362.4 - 3 163 c.128G>A c.(127-129)gGa>gAa p.G43E PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTTGTTGCCTCCTTGTGGGGG 0.522000 62 114 0 0 1 0 0 SLC7A3 84889 broad.mit.edu 37 X 70146884 70146884 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:70146884G>A ENST00000374299.3 - 9 1438 c.1294C>T c.(1294-1296)Cct>Tct p.P432S SLC7A3_ENST00000298085.4_Missense_Mutation_p.P432S Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 432 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TCCTGATCAGGTTGATACCTG 0.438000 14 18 0 0 1 0 0 TMCC2 9911 broad.mit.edu 37 1 205238605 205238605 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:205238605C>T ENST00000358024.3 + 3 1664 c.1275C>T c.(1273-1275)ccC>ccT p.P425P TMCC2_ENST00000545499.1_Silent_p.P347P|TMCC2_ENST00000329800.7_Silent_p.P185P|TMCC2_ENST00000330675.7_Silent_p.P200P|TMCC2_ENST00000495538.1_3'UTR NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 425 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) TGTCCAAGCCCCGGGAGTTTG 0.672000 19 46 0 0 1 0 0 C1orf162 128346 broad.mit.edu 37 1 112019446 112019446 + Missense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:112019446G>T ENST00000343534.5 + 3 314 c.64G>T c.(64-66)Gcc>Tcc p.A22S C1orf162_ENST00000369718.3_Missense_Mutation_p.A22S|C1orf162_ENST00000464591.1_3'UTR NM_174896.2 NP_777556.1 Q8NEQ5 CA162_HUMAN chromosome 1 open reading frame 162 22 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 5 all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134) CTCCACAGCAGCCCCAACAAC 0.448000 43 67 2.40228e-13 2.43544e-13 1 1 0 MSX1 4487 broad.mit.edu 37 4 4864788 4864788 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:4864788C>T ENST00000382723.4 + 2 1064 c.830C>T c.(829-831)cCc>cTc p.P277L NM_002448.3 NP_002439.2 P28360 MSX1_HUMAN msh homeobox 1 271 apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 11 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GCCTCTGGCCCCTTCCAGCGC 0.711000 5 10 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38881697 38881697 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:38881697G>A ENST00000274276.3 + 4 651 c.249G>A c.(247-249)ggG>ggA p.G83G OSMR_ENST00000502536.1_Silent_p.G83G NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 83 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GCTTTTAGGGGAATTACAGCA 0.423000 13 23 0 0 1 0 0 KDM5C 8242 broad.mit.edu 37 X 53222467 53222467 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:53222467C>T ENST00000375401.3 - 26 4897 c.4365G>A c.(4363-4365)ctG>ctA p.L1455L KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000404049.3_Silent_p.L1454L|KDM5C_ENST00000375379.3_Silent_p.L1452L|KDM5C_ENST00000375383.3_Silent_p.L1411L NM_004187.3 NP_004178.2 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 1455 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 GCCGCCTCTCCAGGGCCCGGC 0.677000 """N, F, S""" clear cell renal carcinoma 12 20 0 0 1 0 0 KLHL35 283212 broad.mit.edu 37 11 75134884 75134884 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:75134884C>T ENST00000539798.1 - 5 1414 c.1415G>A c.(1414-1416)cGg>cAg p.R472Q KLHL35_ENST00000376292.4_Missense_Mutation_p.R252Q NM_001039548.2 NP_001034637.2 Q6PF15 KLH35_HUMAN kelch-like family member 35 252 lung(2)|stomach(1) 3 TGCTGGTGACCGCAGGCTCCA 0.592000 23 30 0 0 1 0 0 ENDOU 8909 broad.mit.edu 37 12 48104522 48104522 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:48104522C>T ENST00000542202.1 - 6 902 c.451G>A c.(451-453)Gac>Aac p.D151N RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000545824.2_3'UTR|ENDOU_ENST00000422538.3_3'UTR|ENDOU_ENST00000229003.3_3'UTR P21128 ENDOU_HUMAN endonuclease, polyU-specific 0 female pregnancy|immune response|proteolysis cytoplasm|extracellular space|plasma membrane endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1) 14 TCTCTCTAGTCCAGAGAAGAT 0.473000 11 18 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108182076 108182076 + Silent SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:108182076G>T ENST00000273353.3 - 17 1862 c.1806C>A c.(1804-1806)atC>atA p.I602I NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 602 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCCAACCACTGATATTATAAG 0.373000 10 78 0.00829132 0.00830115 1 1 0 WDR33 55339 broad.mit.edu 37 2 128522370 128522370 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:128522370G>A ENST00000409658.3 - 6 840 c.658C>T c.(658-660)Cct>Tct p.P220S WDR33_ENST00000322313.4_Intron|WDR33_ENST00000393006.1_Intron NM_001006622.2 NP_001006623.1 Q9C0J8 WDR33_HUMAN WD repeat domain 33 0 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) ATGACAATAGGGACTACAGAA 0.413000 30 11 0 0 1 0 0 ALG13 79868 broad.mit.edu 37 X 110970246 110970246 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:110970246C>T ENST00000394780.3 + 16 1951 c.1939C>T c.(1939-1941)Cca>Tca p.P647S ALG13_ENST00000251943.4_Missense_Mutation_p.P543S|ALG13_ENST00000470971.1_3'UTR NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 647 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 TCCTCAGCATCCATCTCCGAG 0.453000 29 47 0 0 1 0 0 RRAGB 10325 broad.mit.edu 37 X 55779873 55779873 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:55779873G>A ENST00000374941.4 + 7 1250 c.661G>A c.(661-663)Gaa>Aaa p.E221K RRAGB_ENST00000262850.7_Missense_Mutation_p.E249K NM_006064.4 NP_006055.3 Q5VZM2 RRAGB_HUMAN Ras-related GTP binding B 249 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction Golgi apparatus|lysosome|nucleus GTP binding|protein binding breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1) 14 TCAGCAGCTGGAAATGAACCT 0.393000 10 16 0 0 1 0 0 ZNF510 22869 broad.mit.edu 37 9 99521509 99521509 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:99521509G>A ENST00000375231.1 - 6 2253 c.1603C>T c.(1603-1605)Cag>Tag p.Q535* ZNF510_ENST00000223428.4_Nonsense_Mutation_p.Q535* Q9Y2H8 ZN510_HUMAN zinc finger protein 510 535 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) TGAGTTCTCTGATGTATTCTG 0.413000 44 18 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7809008 7809008 + Missense_Mutation SNP G G A rs148485547 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:7809008G>A ENST00000315599.7 - 6 1020 c.998C>T c.(997-999)tCa>tTa p.S333L CD209_ENST00000602261.1_Missense_Mutation_p.S241L|CD209_ENST00000601256.1_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.S309L|CD209_ENST00000601951.1_Missense_Mutation_p.S309L|CD209_ENST00000354397.6_Missense_Mutation_p.S327L|CD209_ENST00000301357.8_Missense_Mutation_p.S197L|CD209_ENST00000593821.1_Missense_Mutation_p.S197L|CD209_ENST00000593660.1_Missense_Mutation_p.S263L|CD209_ENST00000204801.8_Missense_Mutation_p.S289L|CD209_ENST00000394161.5_Missense_Mutation_p.S97L|CD209_ENST00000394173.4_Missense_Mutation_p.S172L NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 333 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CAACAGAGGTGAGCCGTCCAC 0.527000 11 37 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 6 0 0 1 0 0 INCENP 3619 broad.mit.edu 37 11 61919372 61919372 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:61919372C>T ENST00000394818.3 + 19 2883 c.2681C>T c.(2680-2682)tCt>tTt p.S894F INCENP_ENST00000278849.4_Missense_Mutation_p.S890F NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 894 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CGCACCAGCTCTGCTGTCTGG 0.607000 29 30 0 0 1 0 0 SPAG16 79582 broad.mit.edu 37 2 214794838 214794838 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:214794838G>A ENST00000331683.5 + 12 1464 c.1369G>A c.(1369-1371)Gat>Aat p.D457N SPAG16_ENST00000374309.3_Missense_Mutation_p.D363N NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 457 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) CTCCTCACTGGATAAAACTAG 0.428000 14 10 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92998472 92998472 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:92998472C>T ENST00000523629.1 - 9 1613 c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E350K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E360K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E387K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E360K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E350K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E398K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E350K NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 387 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E398K(1)|p.E350K(1)|p.E387K(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTCAATTCTTCCCGGTCTGCT 0.502000 37 58 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142563350 142563350 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:142563350G>A ENST00000392957.2 + 8 1854 c.1067G>A c.(1066-1068)cGg>cAg p.R356Q EPHB6_ENST00000411471.2_Missense_Mutation_p.R79Q|EPHB6_ENST00000442129.1_Missense_Mutation_p.R356Q NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 356 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity p.R341L(1) NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GGCTTCTACCGGGCCAGTTCC 0.647000 11 11 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107289444 107289444 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:107289444C>T ENST00000277216.3 - 1 46 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 ACCAGAGAGTCCCAGAAGAAT 0.403000 19 7 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27401845 27401845 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:27401845G>A ENST00000527372.1 - 42 6288 c.6108C>T c.(6106-6108)tcC>tcT p.S2036S MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_Silent_p.S2036S|TIAF1_ENST00000359450.6_5'UTR|MYO18A_ENST00000531253.1_Silent_p.S2021S|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000533112.1_Silent_p.S1984S NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 2036 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GATAACTGTGGGAGTATCGCG 0.612000 7 46 0 0 1 0 0 HERC3 8916 broad.mit.edu 37 4 89588562 89588562 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:89588562C>T ENST00000402738.1 + 13 1605 c.1366C>T c.(1366-1368)Cct>Tct p.P456S HERC3_ENST00000543130.1_5'UTR|HERC3_ENST00000264345.3_Missense_Mutation_p.P456S NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 456 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity p.P456T(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TCCCAAAATCCCTGGGATTGA 0.313000 7 10 0 0 1 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32918392 32918392 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:32918392C>T ENST00000374843.4 - 2 362 c.277G>A c.(277-279)Gga>Aga p.G93R HLA-DMA_ENST00000395305.3_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.G93R|HLA-DMA_ENST00000464392.1_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Intron NM_006120.3 NP_006111.2 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM alpha 93 integral to membrane|MHC class II protein complex kidney(1)|large_intestine(2)|lung(8) 11 GGAGCATCTCCCTGTTCCTGA 0.522000 29 84 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32185834 32185834 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:32185834G>A ENST00000375023.3 - 9 1700 c.1562C>T c.(1561-1563)cCc>cTc p.P521L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 521 EGF-like 13; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GTTCAGGCAGGGAGCTGAGGC 0.622000 7 19 0 0 1 0 0 IGHM 3507 broad.mit.edu 37 14 106321212 106321212 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:106321212C>T ENST00000390559.2 - 0 776 TCTGGCGGGTCCAGGAGATGG 0.592000 24 33 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189975025 189975025 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:189975025G>A ENST00000374866.3 - 2 522 c.248C>T c.(247-249)gCc>gTc p.A83V NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 83 VWFC. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TACAGGGTCGGCACAGTCCAG 0.498000 3 40 0 0 1 0 0 EDNRA 1909 broad.mit.edu 37 4 148441110 148441110 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:148441110C>T ENST00000324300.5 + 3 1043 c.528C>T c.(526-528)ctC>ctT p.L176L EDNRA_ENST00000339690.5_Intron|EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000358556.4_Intron NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 176 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) TCCTCAACCTCTGCGCTCTTA 0.458000 35 62 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38126760 38126760 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:38126760C>T ENST00000301659.4 + 4 536 c.418C>T c.(418-420)Ctg>Ttg p.L140L NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 140 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 CCACCCATTCCTGAAGGAGAT 0.567000 16 8 0 0 1 0 0 ENTPD4 9583 broad.mit.edu 37 8 23243516 23243516 + Silent SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:23243516T>C ENST00000356206.6 - 13 1876 c.1641A>G c.(1639-1641)ccA>ccG p.P547P LOXL2_ENST00000389131.3_Intron Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 0 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) aacacagCTTTGGacaacccc 0.468000 22 31 0 0 1 0 0 USP39 10713 broad.mit.edu 37 2 85875082 85875082 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:85875082C>T ENST00000409766.3 + 11 1459 c.1457C>T c.(1456-1458)aCc>aTc p.T486I USP39_ENST00000409470.1_Silent_p.D531D|USP39_ENST00000450066.2_Silent_p.D428D|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Intron|USP39_ENST00000323701.6_Silent_p.D531D NM_001256726.1 NP_001243655.1 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 0 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 AATTACAAGACCTCCAGGTGA 0.478000 13 5 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158906794 158906794 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:158906794G>A ENST00000368140.1 + 2 339 c.94G>A c.(94-96)Gat>Aat p.D32N PYHIN1_ENST00000368135.4_Missense_Mutation_p.D32N|PYHIN1_ENST00000392252.3_Missense_Mutation_p.D32N|PYHIN1_ENST00000392254.2_Missense_Mutation_p.D32N|PYHIN1_ENST00000368138.3_Missense_Mutation_p.D32N NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 32 DAPIN. cell cycle nuclear speck p.D32N(3) breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) ACTGAGTAACGATTTAAAACT 0.338000 9 23 0 0 1 0 0 POU5F1B 5462 broad.mit.edu 37 8 128428510 128428510 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:128428510G>A ENST00000465342.2 + 2 1556 c.399G>A c.(397-399)ccG>ccA p.P133P CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.P133P|CASC8_ENST00000501396.1_RNA Q06416 P5F1B_HUMAN POU class 5 homeobox 1B 133 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|prostate(1)|urinary_tract(1) 3 AGCAAAACCCGGAGAAGTCCC 0.577000 13 10 0 0 1 0 0 REEP4 80346 broad.mit.edu 37 8 21997708 21997708 + Silent SNP G G A rs146312249 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:21997708G>A ENST00000306306.3 - 3 627 c.159C>T c.(157-159)atC>atT p.I53I REEP4_ENST00000523293.1_Silent_p.I53I|REEP4_ENST00000334530.5_Silent_p.I53I NM_025232.2 NP_079508.2 Q9H6H4 REEP4_HUMAN receptor accessory protein 4 53 integral to membrane kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 7 Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993) TGTCTGTAACGATCTCTGCTG 0.597000 16 35 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067950 11067950 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:11067950C>T ENST00000287766.4 + 10 1404 c.983C>T c.(982-984)tCg>tTg p.S328L SLC6A1_ENST00000536032.1_Missense_Mutation_p.S150L NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 328 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) TGCATCAATTCGTGCACCAGC 0.577000 34 54 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25457454 25457454 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:25457454G>A ENST00000381884.4 - 17 4063 c.3878C>T c.(3877-3879)gCc>gTc p.A1293V CENPJ_ENST00000545981.1_3'UTR NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 1293 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CTTGAACTGGGCAGTATGTAG 0.348000 34 136 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207644123 207644123 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:207644123G>A ENST00000367057.3 + 7 1453 c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K CR2_ENST00000367058.3_Missense_Mutation_p.E422K|CR2_ENST00000367059.3_Missense_Mutation_p.E422K|CR2_ENST00000458541.2_Missense_Mutation_p.E422K NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 422 Sushi 7. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.E422K(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TGGGCAAAAGGAAGATAGACA 0.423000 9 24 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11682618 11682618 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:11682618C>T ENST00000337414.4 - 1 1203 c.331G>A c.(331-333)Gag>Aag p.E111K ARHGAP6_ENST00000380718.1_Missense_Mutation_p.E111K|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.E111K NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 111 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GGTGACTTCTCCTGCGGGGTG 0.652000 7 7 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150908139 150908139 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:150908139C>T ENST00000329903.4 + 3 342 c.309C>T c.(307-309)ctC>ctT p.L103L NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 103 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GGCCTGAACTCCAGACTGTGA 0.552000 14 25 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52667266 52667266 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:52667266G>A ENST00000355568.4 - 13 1271 c.1132C>T c.(1132-1134)Cac>Tac p.H378Y NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 378 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GGAATAGGGTGATAACTTGGT 0.418000 26 66 0 0 1 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7586934 7586934 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:7586934C>T ENST00000299492.4 + 3 603 c.215C>T c.(214-216)gCc>gTc p.A72V NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 72 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GAGAGAGCAGCCCTCCTGAGC 0.587000 25 53 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87424091 87424091 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:87424091C>T ENST00000517970.1 + 9 1356 c.1049C>T c.(1048-1050)aCc>aTc p.T350I WWP1_ENST00000265428.4_Missense_Mutation_p.T350I|WWP1_ENST00000349423.2_Missense_Mutation_p.T132I|WWP1_ENST00000341922.2_Missense_Mutation_p.T220I NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 350 WW 1. 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 AACACAGAAACCTTGCCATCA 0.398000 9 11 0 0 1 0 0 ADRA2B 151 broad.mit.edu 37 2 96781235 96781235 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:96781235G>A ENST00000409345.3 - 1 749 c.654C>T c.(652-654)tcC>tcT p.S218S NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 218 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GGGGCTGCTTGGACTCACCCT 0.632000 4 7 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3425306 3425306 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:3425306G>A ENST00000336727.3 + 13 4076 c.3172G>A c.(3172-3174)Gag>Aag p.E1058K RGS12_ENST00000382788.3_Missense_Mutation_p.E1058K|RGS12_ENST00000344733.5_Missense_Mutation_p.E1058K|RGS12_ENST00000338806.4_Missense_Mutation_p.E410K|RGS12_ENST00000538395.1_Missense_Mutation_p.E400K|RGS12_ENST00000306648.7_Missense_Mutation_p.E456K|RGS12_ENST00000508158.1_3'UTR NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1058 RBD 2. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCCCGTCACGGAGGTGCTGCG 0.627000 11 23 0 0 1 0 0 ANKRD20A4 728747 broad.mit.edu 37 9 69420398 69420398 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:69420398C>T ENST00000357336.3 + 13 1569 c.1288C>T c.(1288-1290)Ccc>Tcc p.P430S NM_001098805.1 NP_001092275.1 Q4UJ75 A20A4_HUMAN ankyrin repeat domain 20 family, member A4 430 breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2) 16 TCAGCAATTTCCCAAGAAGCT 0.343000 11 110 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151899864 151899864 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:151899864C>T ENST00000393900.3 - 3 1290 c.937G>A c.(937-939)Gaa>Aaa p.E313K CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.E313K|MAGEA12_ENST00000357916.4_Missense_Mutation_p.E313K NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 313 breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) ACTCACTCTTCCCCCTCTCTA 0.552000 26 78 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43926885 43926885 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:43926885G>A ENST00000537548.1 - 8 1595 c.1351C>T c.(1351-1353)Cgt>Tgt p.R451C MATN4_ENST00000372753.1_Missense_Mutation_p.R302C|MATN4_ENST00000372754.1_Missense_Mutation_p.R492C|MATN4_ENST00000372751.4_Missense_Mutation_p.R302C|MATN4_ENST00000372756.1_Missense_Mutation_p.R451C|MATN4_ENST00000353917.5_Missense_Mutation_p.R369C|MATN4_ENST00000360607.5_Missense_Mutation_p.R410C|MATN4_ENST00000342716.4_Missense_Mutation_p.R451C O95460 MATN4_HUMAN matrilin 4 492 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) AGGCCAACACGAGGCACGTTA 0.662000 39 35 0 0 1 0 0 TMEM255A 55026 broad.mit.edu 37 X 119410842 119410842 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:119410842G>A ENST00000371369.4 - 7 799 c.573C>T c.(571-573)atC>atT p.I191I TMEM255A_ENST00000371352.1_Silent_p.I51I|TMEM255A_ENST00000309720.5_Silent_p.I215I|TMEM255A_ENST00000440464.1_Intron NM_001104544.1 NP_001098014.1 transmembrane protein 255A AGAGGTGGATGATATCTTGGC 0.557000 41 66 0 0 1 0 0 FILIP1L 11259 broad.mit.edu 37 3 99568524 99568524 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:99568524C>T ENST00000331335.5 - 5 2466 c.1996G>A c.(1996-1998)Gaa>Aaa p.E666K CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.E666K|FILIP1L_ENST00000487087.1_Missense_Mutation_p.E242K|FILIP1L_ENST00000471562.1_Missense_Mutation_p.E426K|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.E426K NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 666 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TTGTCTCGTTCATTAGCATAC 0.378000 24 47 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16026231 16026231 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:16026231C>T ENST00000350896.3 - 4 563 c.366G>A c.(364-366)gaG>gaA p.E122E MSR1_ENST00000355282.2_Silent_p.E122E|MSR1_ENST00000381998.4_Silent_p.E122E|MSR1_ENST00000445506.2_Silent_p.E140E|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000262101.5_Silent_p.E122E NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 122 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GGATTCTCTTCTCCATGTTGC 0.378000 30 62 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46847144 46847144 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:46847144G>A ENST00000393382.3 - 14 2497 c.2356C>T c.(2356-2358)Ctc>Ttc p.L786F TTLL6_ENST00000433608.2_Missense_Mutation_p.L479F NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 738 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 AAGAAGGAGAGCTTCCCACTC 0.507000 25 25 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719003 140719003 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140719003G>A ENST00000394576.2 + 1 465 c.465G>A c.(463-465)aaG>aaA p.K155K PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCTCTTAAGAATGCGCATG 0.488000 24 30 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47173411 47173411 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:47173411C>T ENST00000447411.1 - 9 906 c.700G>A c.(700-702)Gtg>Atg p.V234M SLC38A4_ENST00000266579.4_Missense_Mutation_p.V234M NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 234 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) ACAAAAAACACCATGCAGGTA 0.373000 38 44 0 0 1 0 0 CFHR3 10878 broad.mit.edu 37 1 196748929 196748929 + Nonsense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:196748929A>T ENST00000471440.2 + 3 330 c.256A>T c.(256-258)Aaa>Taa p.K86* CFHR3_ENST00000391985.3_Nonsense_Mutation_p.K86*|CFHR3_ENST00000367425.4_Nonsense_Mutation_p.K86* 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 GTCCTTAGGAAAATGTTATTT 0.284000 4 7 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155736000 155736000 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:155736000G>A ENST00000437809.1 - 21 3386 c.3264C>T c.(3262-3264)tcC>tcT p.S1088S GON4L_ENST00000271883.5_Silent_p.S1088S|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.S1088S|GON4L_ENST00000361040.5_Silent_p.S1088S Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1088 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GCAAAGTCTGGGACTCAGACA 0.572000 19 25 0 0 1 0 0 GATA1 2623 broad.mit.edu 37 X 48652530 48652530 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:48652530C>T ENST00000376670.3 + 6 1312 c.1201C>T c.(1201-1203)Ccc>Tcc p.P401S GATA1_ENST00000376665.3_Intron NM_002049.3 NP_002040.1 P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 401 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 CCCCATGCCCCCCACCACCAG 0.642000 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 9 9 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74824766 74824766 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:74824766G>A ENST00000256362.4 + 2 1521 c.1280G>A c.(1279-1281)aGg>aAg p.R427K NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 427 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 TTCAAACGCAGGTTCCCTGGC 0.572000 23 25 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140744147 140744147 + Missense_Mutation SNP T T G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140744147T>G ENST00000518069.1 + 1 250 c.250T>G c.(250-252)Ttg>Gtg p.L84V PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCGGCAGCTTGGTCACCGC 0.587000 36 50 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96506702 96506702 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:96506702G>A ENST00000376747.3 - 35 4106 c.4036C>T c.(4036-4038)Cga>Tga p.R1346* NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 1346 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TCGAAATCTCGAAGTTCTTTT 0.368000 24 11 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66436590 66436590 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:66436590C>T ENST00000341529.3 + 12 2021 c.1873C>T c.(1873-1875)Cgg>Tgg p.R625W CDH5_ENST00000539168.1_Missense_Mutation_p.R64W NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 625 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GCGGCGGCTCCGGAAGCAGGC 0.701000 4 10 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369281 20369281 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:20369281G>A ENST00000593655.1 - 0 199 GGCATAGTACGAAATTGGGAT 0.378000 31 40 0 0 1 0 0 EDA 1896 broad.mit.edu 37 X 68836180 68836180 + Missense_Mutation SNP G G A rs41539891 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:68836180G>A ENST00000374552.4 + 1 270 c.28G>A c.(28-30)Gaa>Aaa p.E10K EDA_ENST00000338901.3_Missense_Mutation_p.E10K|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000525810.1_Missense_Mutation_p.E10K|EDA_ENST00000524573.1_Missense_Mutation_p.E10K|EDA_ENST00000527388.1_Missense_Mutation_p.E10K|EDA_ENST00000374553.2_Missense_Mutation_p.E10K NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 10 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 GGAGCGCAGGGAACTCCTGCC 0.721000 7 11 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40399671 40399671 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:40399671G>A ENST00000338305.6 - 2 1724 c.1182C>T c.(1180-1182)tcC>tcT p.S394S NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 394 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CTGAGAGGCGGGACTTGGGGG 0.672000 20 57 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3733899 3733899 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:3733899C>T ENST00000541714.2 + 7 1328 c.866C>T c.(865-867)tCg>tTg p.S289L TJP3_ENST00000382008.3_Missense_Mutation_p.S289L|TJP3_ENST00000589378.1_Missense_Mutation_p.S298L|TJP3_ENST00000587686.1_Missense_Mutation_p.S308L|TJP3_ENST00000539908.2_Missense_Mutation_p.S253L|TJP3_ENST00000262968.9_Missense_Mutation_p.S308L NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 289 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) AGCGACAGCTCGCCATTGGAG 0.577000 13 23 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247752474 247752474 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:247752474G>A ENST00000320065.1 + 1 813 c.813G>A c.(811-813)agG>agA p.R271R RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTAGATCCAGGGACCAGGGCA 0.473000 29 64 0 0 1 0 0 CDCA4 55038 broad.mit.edu 37 14 105477549 105477549 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:105477549C>T ENST00000336219.3 - 2 873 c.718G>A c.(718-720)Gag>Aag p.E240K CDCA4_ENST00000392590.3_Missense_Mutation_p.E240K NM_017955.3 NP_060425.2 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 240 nucleus endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) GCTCAGGTCTCCACCAGGATC 0.692000 5 11 0 0 1 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180696 142180696 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:142180696G>A ENST00000390368.2 - 0 228 GGGTCTTGTCGATACCAGGAC 0.507000 34 309 0 0 1 0 0 CCDC68 80323 broad.mit.edu 37 18 52608311 52608311 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:52608311G>A ENST00000591504.1 - 4 395 c.121C>T c.(121-123)Cga>Tga p.R41* CCDC68_ENST00000337363.4_Nonsense_Mutation_p.R41*|CCDC68_ENST00000432185.1_Nonsense_Mutation_p.R41* NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 41 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) AGAGTAGTTCGAATCTAGAGA 0.353000 4 16 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25331747 25331747 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:25331747C>T ENST00000546682.1 + 0 453 SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 ATACCGTCATCCTCGTCGAAC 0.468000 47 110 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156593013 156593013 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:156593013T>C ENST00000302938.4 - 1 262 c.167A>G c.(166-168)aAa>aGa p.K56R NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 56 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTCTCCCTTTTTGTTTATCTG 0.478000 19 34 0 0 1 0 0 MIOX 55586 broad.mit.edu 37 22 50925838 50925838 + Silent SNP C C A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:50925838C>A ENST00000395732.3 + 2 62 c.40C>A c.(40-42)Cga>Aga p.R14R MIOX_ENST00000216075.6_Silent_p.R14R|MIOX_ENST00000395733.3_Silent_p.R14R Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 14 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity p.R14*(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCTGGTCTACCGACCTGATGT 0.597000 12 75 1.5842e-08 1.59935e-08 1 1 0 JAM2 58494 broad.mit.edu 37 21 27071098 27071098 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr21:27071098G>A ENST00000480456.1 + 5 1054 c.504G>A c.(502-504)tgG>tgA p.W168* JAM2_ENST00000425221.2_Nonsense_Mutation_p.W132*|JAM2_ENST00000400532.1_Nonsense_Mutation_p.W168*|JAM2_ENST00000312957.5_Nonsense_Mutation_p.W168* NM_001270407.1|NM_021219.3 NP_001257336.1|NP_067042.1 P57087 JAM2_HUMAN junctional adhesion molecule 2 168 Ig-like C2-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 AATACACATGGTTTAAGGATG 0.453000 17 17 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175772343 175772343 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:175772343C>T ENST00000443967.1 + 12 2921 c.2514C>T c.(2512-2514)gtC>gtT p.V838V SIMC1_ENST00000332772.4_Silent_p.V299V|SIMC1_ENST00000430704.2_Silent_p.V423V|SIMC1_ENST00000341199.6_Silent_p.V423V SUMO-interacting motifs containing 1 AGCCTCTTGTCCCCCAACTCC 0.557000 16 32 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129070779 129070779 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:129070779A>T ENST00000274487.4 + 22 3594 c.3449A>T c.(3448-3450)aAt>aTt p.N1150I CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 1150 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ATTAATGTAAATACCATAACA 0.348000 16 33 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107417842 107417842 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:107417842C>T ENST00000394872.2 - 31 3200 c.2969G>A c.(2968-2970)gGa>gAa p.G990E COL4A6_ENST00000545689.1_Missense_Mutation_p.G989E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G989E|COL4A6_ENST00000334504.7_Missense_Mutation_p.G989E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G990E Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 990 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding p.G989E(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 ACCAGCCTCTCCTTTGTCACC 0.542000 Alport syndrome with Diffuse Leiomyomatosis 6 23 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74536432 74536432 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:74536432G>A ENST00000321288.5 + 4 737 c.737G>A c.(736-738)gGg>gAg p.G246E CCDC33_ENST00000398814.3_Missense_Mutation_p.G43E Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 246 C2. protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 ACCCTCCATGGGGCTACCAAC 0.617000 25 43 0 0 1 0 0 ITGB1BP2 26548 broad.mit.edu 37 X 70523173 70523173 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:70523173G>A ENST00000538820.1 + 4 665 c.325G>A c.(325-327)Gaa>Aaa p.E109K ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.E127K Q9UKP3 ITBP2_HUMAN integrin beta 1 binding protein (melusin) 2 127 muscle organ development|signal transduction SH3 domain binding breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1) 14 Renal(35;0.156) AATGGCATTGGAACAGAAGGA 0.483000 6 13 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94643191 94643191 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:94643191C>T ENST00000260526.6 - 22 3064 c.2882G>A c.(2881-2883)gGa>gAa p.G961E ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 961 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) ATCACATTTTCCTAACGCATT 0.368000 16 17 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2163265 2163265 + Nonsense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:2163265G>T ENST00000262304.4 - 12 3090 c.2882C>A c.(2881-2883)tCg>tAg p.S961* RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Nonsense_Mutation_p.S961* NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 961 PKD 4. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GACCATGTCCGAGCCGGCCTC 0.607000 30 56 2.87052e-16 2.92596e-16 1 1 0 BPIFC 254240 broad.mit.edu 37 22 32843249 32843249 + Missense_Mutation SNP G G C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:32843249G>C ENST00000397452.1 - 4 434 c.324C>G c.(322-324)aaC>aaG p.N108K BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Missense_Mutation_p.N108K Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 108 extracellular region lipopolysaccharide binding|phospholipid binding CAGTGCCATGGTTGGTTAGCG 0.448000 18 33 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497492 1497492 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:1497492C>T ENST00000421627.2 + 2 767 c.633C>T c.(631-633)ccC>ccT p.P211P NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 290 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) AGCCCCGGCCCGGCATGAGCA 0.706000 18 31 0 0 1 0 0 WNT10B 7480 broad.mit.edu 37 12 49359907 49359907 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:49359907C>T ENST00000301061.4 - 5 1489 c.1141G>A c.(1141-1143)Gtt>Att p.V381I WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR NM_003394.3 NP_003385.2 O00744 WN10B_HUMAN wingless-type MMTV integration site family, member 10B 381 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4) 23 CACTCTGTAACCTTGCACTCA 0.582000 15 12 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161161902 161161902 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:161161902C>T ENST00000367996.4 - 8 2468 c.2040G>A c.(2038-2040)ggG>ggA p.G680G NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 680 Cys-rich. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CAGAACCGTCCCCTCCGCACA 0.537000 OREG0013940 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 44 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113232121 113232121 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:113232121C>T ENST00000369644.1 + 5 1287 c.258C>T c.(256-258)cgC>cgT p.R86R MOV10_ENST00000413052.2_Silent_p.R142R|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Silent_p.R142R|MOV10_ENST00000357443.2_Silent_p.R142R Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 142 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TCCTTATCCGCCTGGATTTGA 0.592000 27 37 0 0 1 0 0 CBS 875 broad.mit.edu 37 21 44486419 44486419 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr21:44486419C>T ENST00000398165.3 - 5 644 c.385G>A c.(385-387)Gat>Aat p.D129N CBS_ENST00000544202.1_Missense_Mutation_p.D41N|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000398158.1_Missense_Mutation_p.D129N|CBS_ENST00000352178.5_Missense_Mutation_p.D129N|CBS_ENST00000398168.1_Missense_Mutation_p.D129N|CBS_ENST00000359624.3_Missense_Mutation_p.D129N NM_000071.2 NP_000062.1 P35520 CBS_HUMAN cystathionine-beta-synthase 129 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8) 17 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) CGCTCAGCATCCTCAATCATC 0.647000 31 15 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130646 45130646 + Silent SNP C C T rs144394680 byFrequency TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:45130646C>T ENST00000457685.2 - 6 2541 c.1218G>A c.(1216-1218)acG>acA p.T406T ZNF334_ENST00000593880.1_Silent_p.T467T|ZNF334_ENST00000347606.4_Silent_p.T444T Q9HCZ1 ZN334_HUMAN zinc finger protein 334 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) GGGCTGATTTCGTACATAAAA 0.378000 29 39 0 0 1 0 0 IFNG 3458 broad.mit.edu 37 12 68551978 68551978 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:68551978C>T ENST00000229135.3 - 2 307 c.176G>A c.(175-177)tGg>tAg p.W59* IFNG-AS1_ENST00000536914.1_RNA NM_000619.2 NP_000610.2 P01579 IFNG_HUMAN interferon, gamma 59 cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus extracellular space cytokine activity|interferon-gamma receptor binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000829) Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641) TACCTCTTTCCAATTCTTCAA 0.348000 8 15 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39463875 39463875 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:39463875G>A ENST00000265707.5 + 3 227 c.182G>A c.(181-183)gGa>gAa p.G61E ADAM18_ENST00000520772.1_Missense_Mutation_p.G61E|ADAM18_ENST00000379866.1_Missense_Mutation_p.G61E|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 61 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CTACATCTCGGAAAACAGTAA 0.284000 6 18 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684184 75684184 + Missense_Mutation SNP C C T rs143004355 byFrequency TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:75684184C>T ENST00000370855.5 - 17 1633 c.1520G>A c.(1519-1521)cGa>cAa p.R507Q SLC44A5_ENST00000535611.1_Missense_Mutation_p.R377Q|SLC44A5_ENST00000370859.3_Missense_Mutation_p.R507Q NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 507 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 CCGTATGGCTCGTCCAAATGC 0.433000 44 61 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61310838 61310838 + Splice_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:61310838C>T ENST00000341074.5 - 2 90 c.e2-1 SERPINB4_ENST00000356424.6_Splice_Site 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 TCTGGAACTCCTGGAAAAGCA 0.358000 31 36 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55356418 55356418 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:55356418C>T ENST00000524622.1 - 7 1511 c.850G>A c.(850-852)Gaa>Aaa p.E284K TESPA1_ENST00000449076.1_Missense_Mutation_p.E422K|TESPA1_ENST00000532804.1_Missense_Mutation_p.E284K|TESPA1_ENST00000316577.8_Missense_Mutation_p.E422K|TESPA1_ENST00000531122.1_Missense_Mutation_p.E284K NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 422 GGATGGGTTTCCGTATTGGTG 0.493000 35 59 0 0 1 0 0 NUDCD3 23386 broad.mit.edu 37 7 44530080 44530080 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:44530080G>A ENST00000355451.6 - 1 399 c.120C>T c.(118-120)ttC>ttT p.F40F NM_015332.3 NP_056147.2 Q8IVD9 NUDC3_HUMAN NudC domain containing 3 40 endometrium(2)|large_intestine(1)|lung(3)|skin(1) 7 GCAAGCGATAGAAGTCTGTCT 0.657000 3 5 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 64981596 64981596 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:64981596C>T ENST00000268603.4 - 13 2916 c.2301G>A c.(2299-2301)ttG>ttA p.L767L CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Silent_p.L641L NM_001797.2 NP_001788.2 P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 767 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) AATCATAGTCCAAGTCTGAAT 0.458000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 21 38 0 0 1 0 0 FAM221A 340277 broad.mit.edu 37 7 23729011 23729011 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:23729011C>T ENST00000344962.4 + 3 452 c.363C>T c.(361-363)ccC>ccT p.P121P FAM221A_ENST00000409994.3_Silent_p.P63P|FAM221A_ENST00000409653.1_Silent_p.P63P|FAM221A_ENST00000409192.3_Silent_p.P121P NM_199136.3 NP_954587.2 A4D161 CG046_HUMAN family with sequence similarity 221, member A 121 GTAGCCAGCCCATTCGCTGCA 0.493000 9 30 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012249 29012249 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:29012249C>T ENST00000377175.1 - 1 768 c.704G>A c.(703-705)cGa>cAa p.R235Q NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 CATTGCTTTTCGCTGGCTTGC 0.408000 25 64 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156589659 156589659 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:156589659C>T ENST00000302938.4 - 2 1712 c.1617G>A c.(1615-1617)agG>agA p.R539R NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 539 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCCTGAGGCTCCTTAAAAAAG 0.458000 42 46 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38622851 38622851 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:38622851G>A ENST00000413689.1 - 17 2992 c.2799C>T c.(2797-2799)ctC>ctT p.L933L SCN5A_ENST00000443581.1_Silent_p.L933L|SCN5A_ENST00000333535.4_Silent_p.L933L|SCN5A_ENST00000450102.2_Silent_p.L933L|SCN5A_ENST00000451551.2_Silent_p.L933L|SCN5A_ENST00000414099.2_Silent_p.L933L|SCN5A_ENST00000449557.2_Silent_p.L933L|SCN5A_ENST00000425664.1_Silent_p.L933L|SCN5A_ENST00000423572.2_Silent_p.L933L|SCN5A_ENST00000455624.2_Silent_p.L933L NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 933 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGGCCAGGAAGAGATTCAGGA 0.577000 3 3 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825161 4825161 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:4825161G>A ENST00000380382.1 - 1 686 c.687C>T c.(685-687)atC>atT p.I229I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Silent_p.I150I Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TCAGCATCACGATGGTCCCCA 0.572000 29 36 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212923 26212923 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:26212923C>T ENST00000379034.1 + 2 1109 c.960C>T c.(958-960)atC>atT p.I320I NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 320 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 ATGATGGGATCCTGCATTCAA 0.493000 65 99 0 0 1 0 0 NSRP1 84081 broad.mit.edu 37 17 28507991 28507991 + Missense_Mutation SNP G G C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:28507991G>C ENST00000247026.5 + 6 637 c.574G>C c.(574-576)Gtt>Ctt p.V192L NSRP1_ENST00000540900.3_3'UTR NM_001261467.1|NM_032141.3 NP_001248396.1|NP_115517.1 Q9H0G5 NSRP1_HUMAN nuclear speckle splicing regulatory protein 1 192 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 AAATCAAGCAGTTGGTGAAGA 0.363000 34 34 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53834309 53834309 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:53834309G>A ENST00000288139.3 + 42 5135 c.5017G>A c.(5017-5019)Gaa>Aaa p.E1673K CACNA1D_ENST00000544977.1_Missense_Mutation_p.E32K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1638K|CACNA1D_ENST00000350061.5_Missense_Mutation_p.E1653K NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1653 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CATTGGGCCAGAAATCCGGCG 0.493000 32 58 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18644418 18644418 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:18644418G>A ENST00000433979.1 + 19 2712 c.2596G>A c.(2596-2598)Gag>Aag p.E866K PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E907K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E866K NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 866 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CAGACTAGAAGAGTTCTTTCA 0.338000 9 19 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52505446 52505446 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:52505446G>A ENST00000261839.7 - 34 4241 c.4080C>T c.(4078-4080)taC>taT p.Y1360Y NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1360 myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) GCATTCCAAGGTACTCCTTGG 0.448000 10 27 0 0 1 0 0 GRK4 2868 broad.mit.edu 37 4 3024149 3024149 + Missense_Mutation SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:3024149A>G ENST00000398052.4 + 10 1284 c.941A>G c.(940-942)aAg>aGg p.K314R GRK4_ENST00000398051.4_Missense_Mutation_p.K282R|GRK4_ENST00000504933.1_Missense_Mutation_p.K314R|GRK4_ENST00000345167.6_Missense_Mutation_p.K282R NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 314 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGAGACTTGAAGCCTGAGAAT 0.448000 26 51 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19486730 19486730 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:19486730G>A ENST00000375267.2 - 39 5455 c.5452C>T c.(5452-5454)Ctt>Ttt p.L1818F UBR4_ENST00000375217.2_Missense_Mutation_p.L1818F|UBR4_ENST00000375226.2_Missense_Mutation_p.L1818F|UBR4_ENST00000375254.3_Missense_Mutation_p.L1818F Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1818 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GCATCCATAAGGAAATTAAGC 0.453000 14 10 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150327158 150327158 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:150327158C>T ENST00000328902.5 - 2 289 c.73G>A c.(73-75)Gag>Aag p.E25K GIMAP6_ENST00000493969.1_Missense_Mutation_p.E25K NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 25 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) CCTGACAGCTCCAGCACAGGA 0.468000 33 72 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16012615 16012615 + Missense_Mutation SNP G G A rs73665227 byFrequency TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:16012615G>A ENST00000350896.3 - 6 1053 c.856C>T c.(856-858)Ccc>Tcc p.P286S MSR1_ENST00000355282.2_Missense_Mutation_p.P286S|MSR1_ENST00000381998.4_Missense_Mutation_p.P286S|MSR1_ENST00000445506.2_Missense_Mutation_p.P304S|MSR1_ENST00000536385.1_Missense_Mutation_p.P60S|MSR1_ENST00000262101.5_Missense_Mutation_p.P286S NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 286 Collagen-like. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TCTCCAGTGGGACCTCGATCT 0.403000 10 13 0 0 1 0 0 MIR526B 574468 broad.mit.edu 37 19 54197697 54197697 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:54197697G>A ENST00000384848.1 + 0 51 NR_030190.1 TGAAAGAAGAGAAAGTGCTTC 0.418000 14 20 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48347189 48347189 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:48347189C>T ENST00000319856.4 + 1 718 c.697C>T c.(697-699)Ctg>Ttg p.L233L NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TTTAATCTGCCTGTTGAACTT 0.512000 4 31 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73046885 73046885 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:73046885G>A ENST00000261180.4 + 17 2894 c.2798G>A c.(2797-2799)cGa>cAa p.R933Q NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 933 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 CCACATGGTCGAGACCTTGCC 0.378000 15 11 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070708 9070708 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:9070708G>A ENST00000397910.4 - 3 16941 c.16738C>T c.(16738-16740)Ctt>Ttt p.L5580F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5582 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 TCCCAGGGAAGGATACCCTGT 0.507000 49 75 0 0 1 0 0 OR5B17 219965 broad.mit.edu 37 11 58126056 58126056 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:58126056G>A ENST00000357377.3 - 1 486 c.487C>T c.(487-489)Cgc>Tgc p.R163C NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) AAAGAGAGGCGAAATGTATCT 0.413000 8 18 0 0 1 0 0 MAOB 4129 broad.mit.edu 37 X 43656435 43656435 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:43656435G>A ENST00000378069.4 - 6 702 c.555C>T c.(553-555)ttC>ttT p.F185F MAOB_ENST00000536181.1_Silent_p.F169F|MAOB_ENST00000538942.1_Silent_p.F169F NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B 185 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) CATACCACAGGAACCAGAGAG 0.493000 18 23 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18837133 18837133 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:18837133C>T ENST00000447925.2 - 14 1935 c.1666G>A c.(1666-1668)Ggt>Agt p.G556S PLCZ1_ENST00000534932.1_Missense_Mutation_p.G39S|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000435379.1_Missense_Mutation_p.G363S|PLCZ1_ENST00000266505.7_Missense_Mutation_p.G558S|PLCZ1_ENST00000538330.1_Missense_Mutation_p.G340S|PLCZ1_ENST00000539875.1_Missense_Mutation_p.G365S NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 558 C2. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) AAACCTTGACCTTCAACAACA 0.333000 10 24 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51783792 51783792 + Silent SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:51783792G>T ENST00000251076.5 - 20 5223 c.4936C>A c.(4936-4938)Cga>Aga p.R1646R DMXL2_ENST00000449909.3_Silent_p.R1010R|DMXL2_ENST00000543779.2_Silent_p.R1646R|RP11-707P17.1_ENST00000561007.1_RNA NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1646 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) ATGCATCTTCGAAGCGTGTTA 0.383000 31 30 1.45844e-13 1.48035e-13 1 1 0 TRAPPC8 22878 broad.mit.edu 37 18 29429670 29429670 + Missense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:29429670G>T ENST00000283351.4 - 25 3929 c.3594C>A c.(3592-3594)ttC>ttA p.F1198L TRAPPC8_ENST00000582539.1_Missense_Mutation_p.F1144L NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 1198 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTCGATAAAAGAAGTCTGCAC 0.318000 7 13 8.12818e-05 8.15716e-05 1 1 0 ALPK1 80216 broad.mit.edu 37 4 113303619 113303619 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:113303619C>T ENST00000458497.1 + 4 466 c.187C>T c.(187-189)Cct>Tct p.P63S ALPK1_ENST00000504176.2_Intron|ALPK1_ENST00000177648.9_Missense_Mutation_p.P63S NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 63 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GCCCTTCGTGCCTGAAAAGTG 0.517000 16 24 0 0 1 0 0 TRAV4 28689 broad.mit.edu 37 14 22205121 22205121 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:22205121G>A ENST00000390426.2 + 0 252 CAAGGACCACGATTTATTATT 0.448000 11 10 0 0 1 0 0 MTM1 4534 broad.mit.edu 37 X 149828167 149828167 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:149828167G>A ENST00000370396.2 + 12 1345 c.1291G>A c.(1291-1293)Gat>Aat p.D431N MTM1_ENST00000413012.2_Missense_Mutation_p.D394N|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.D316N|MTM1_ENST00000542741.1_Missense_Mutation_p.D336N NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 431 Myotubularin phosphatase. D -> N (in XCNM). endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) AAACCACACCGATGCTGACCG 0.333000 6 35 0 0 1 0 0 ABCD4 5826 broad.mit.edu 37 14 74756199 74756199 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:74756199G>A ENST00000356924.4 - 14 1586 c.1443C>T c.(1441-1443)gtC>gtT p.V481V ABCD4_ENST00000298816.7_Silent_p.V377V|AC005519.4_ENST00000554532.2_RNA NM_005050.3 NP_005041.1 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D (ALD), member 4 481 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) AGTCGGGGTAGACCTCCTTCA 0.552000 3 13 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134216714 134216714 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:134216714C>T ENST00000359579.4 + 3 609 c.289C>T c.(289-291)Ctc>Ttc p.L97F AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 97 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 TGAGAAGACCCTCAAGGACCT 0.463000 29 40 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187626905 187626905 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:187626905C>T ENST00000304698.5 + 8 2039 c.1836C>T c.(1834-1836)agC>agT p.S612S NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 612 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GTCAACAGAGCCTGCCATCCC 0.488000 19 5 0 0 1 0 0 LDLRAD4 753 broad.mit.edu 37 18 13621234 13621234 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:13621234G>A ENST00000361205.4 + 5 968 c.300G>A c.(298-300)ccG>ccA p.P100P LDLRAD4_ENST00000585931.1_Silent_p.P23P|LDLRAD4_ENST00000587757.1_Silent_p.P63P|LDLRAD4_ENST00000359446.5_Silent_p.P100P|LDLRAD4_ENST00000586765.1_Silent_p.P63P|LDLRAD4_ENST00000399848.3_Silent_p.P100P NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 p.P100P(1)|p.P63P(1) TCAACCGCCCGAACCAGAGCC 0.622000 26 49 0 0 1 0 0 ZNF81 347344 broad.mit.edu 37 X 47755315 47755315 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:47755315G>A ENST00000376954.1 + 5 621 c.253G>A c.(253-255)Gaa>Aaa p.E85K ZNF81_ENST00000338637.7_Missense_Mutation_p.E85K P51508 ZNF81_HUMAN zinc finger protein 81 85 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) ATTGGAAGGGGAAGCCCCACA 0.493000 3 10 0 0 1 0 0 CETN1 1068 broad.mit.edu 37 18 580847 580847 + Missense_Mutation SNP G G A rs143489830 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:580847G>A ENST00000327228.3 + 1 481 c.439G>A c.(439-441)Gac>Aac p.D147N NM_004066.1 NP_004057.1 Q12798 CETN1_HUMAN centrin, EF-hand protein, 1 147 EF-hand 4. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 GGAGATGATCGACGAAGCTGA 0.537000 13 36 0 0 1 0 0 CDO1 1036 broad.mit.edu 37 5 115151999 115151999 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:115151999C>T ENST00000250535.4 - 1 652 c.96G>A c.(94-96)gaG>gaA p.E32E CDO1_ENST00000502631.1_Intron NM_001801.2 NP_001792.2 Q16878 CDO1_HUMAN cysteine dioxygenase type 1 32 inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5) 11 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) TGGCCTGCACCTCCTCTACAT 0.587000 71 76 0 0 1 0 0 RASSF4 83937 broad.mit.edu 37 10 45477989 45477989 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:45477989C>T ENST00000334940.6 + 4 239 c.105C>T c.(103-105)atC>atT p.I35I RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000340258.4_Silent_p.I53I|RASSF4_ENST00000374417.2_Silent_p.I53I Q9H2L5 RASF4_HUMAN Ras association (RalGDS/AF-6) domain family member 4 53 cell cycle|signal transduction protein binding NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 CTCTGATCATCGAGGGGCTCC 0.637000 6 3 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3432543 3432543 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:3432543G>A ENST00000520002.1 - 11 1826 c.1271C>T c.(1270-1272)aCc>aTc p.T424I CSMD1_ENST00000542608.1_Missense_Mutation_p.T423I|CSMD1_ENST00000539096.1_Missense_Mutation_p.T423I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T423I|CSMD1_ENST00000602723.1_Missense_Mutation_p.T424I|CSMD1_ENST00000400186.3_Missense_Mutation_p.T424I|CSMD1_ENST00000602557.1_Missense_Mutation_p.T424I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 424 CUB 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATTAGGGGAGGTAATGACGCC 0.502000 10 21 0 0 1 0 0 FBXL17 64839 broad.mit.edu 37 5 107216802 107216802 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:107216802C>T ENST00000542267.1 - 8 2307 c.1901G>A c.(1900-1902)gGa>gAa p.G634E FBXL17_ENST00000496714.1_Missense_Mutation_p.G236E|FBXL17_ENST00000359660.5_Missense_Mutation_p.G236E NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 634 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) CAGGGTGGCTCCTTGGTCTGT 0.453000 37 50 0 0 1 0 0 PDZD4 57595 broad.mit.edu 37 X 153069941 153069941 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:153069941C>T ENST00000164640.4 - 8 1368 c.1177G>A c.(1177-1179)Gag>Aag p.E393K PDZD4_ENST00000393758.2_Missense_Mutation_p.E318K|PDZD4_ENST00000544474.1_Missense_Mutation_p.E284K NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 393 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCAGGCTCTCGTTGCGGTTG 0.637000 13 28 0 0 1 0 0 JADE2 23338 broad.mit.edu 37 5 133909384 133909384 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:133909384C>T ENST00000395003.1 + 10 1663 c.1484C>T c.(1483-1485)gCc>gTc p.A495V PHF15_ENST00000282605.4_Missense_Mutation_p.A495V|PHF15_ENST00000361895.2_Missense_Mutation_p.A495V|PHF15_ENST00000402835.1_Intron NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 495 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACGAAACACGCCATCTGCAAA 0.517000 16 21 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128321020 128321020 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:128321020G>A ENST00000262462.4 + 2 1686 c.676G>A c.(676-678)Gga>Aga p.G226R SLC27A6_ENST00000506176.1_Missense_Mutation_p.G226R|SLC27A6_ENST00000395266.1_Missense_Mutation_p.G226R Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 226 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) TTTTACCTCTGGAACAACAGG 0.428000 4 5 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580988 7580988 + Missense_Mutation SNP C C G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:7580988C>G ENST00000379802.3 + 23 4906 c.4565C>G c.(4564-4566)aCg>aGg p.T1522R DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1522 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGTAGTGCGACGGAGACAATA 0.473000 28 92 0 0 1 0 0 PTGFR 5737 broad.mit.edu 37 1 78958666 78958666 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:78958666G>A ENST00000370756.3 + 2 475 c.238G>A c.(238-240)Ggc>Agc p.G80S PTGFR_ENST00000370757.3_Missense_Mutation_p.G80S|PTGFR_ENST00000370758.1_Missense_Mutation_p.G80S NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 80 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) TGATTTCTTTGGCCATCTCAT 0.418000 18 39 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113649118 113649118 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:113649118C>T ENST00000297405.5 - 22 3887 c.3643G>A c.(3643-3645)Gaa>Aaa p.E1215K CSMD3_ENST00000352409.3_Missense_Mutation_p.E1215K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1175K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1111K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1215 Sushi 6. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GATGTTCCTTCCAGTCGATAA 0.502000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 36 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117977619 117977619 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:117977619G>A ENST00000425217.1 - 10 1559 c.1505C>T c.(1504-1506)tCg>tTg p.S502L KSR2_ENST00000302438.5_Missense_Mutation_p.S228L|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.S531L NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 531 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGTGCTGGCGAGGAGGGCGT 0.632000 21 35 0 0 1 0 0 MASP2 10747 broad.mit.edu 37 1 11103511 11103511 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:11103511G>A ENST00000400897.3 - 5 641 c.626C>T c.(625-627)tCc>tTc p.S209F NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan-binding lectin serine peptidase 2 209 CUB 2. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) AGTGCAACTGGAGAGTTTGGG 0.587000 3 6 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111711374 111711374 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:111711374T>C ENST00000435970.1 - 8 1254 c.438A>G c.(436-438)atA>atG p.I146M REV3L_ENST00000368802.3_Missense_Mutation_p.I224M|REV3L_ENST00000368805.1_Missense_Mutation_p.I224M|REV3L_ENST00000358835.3_Missense_Mutation_p.I224M O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 224 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CACCTTCCAATATTAAAGAGC 0.308000 DNA polymerases (catalytic subunits) 15 7 0 0 1 0 0 ACHE 43 broad.mit.edu 37 7 100490067 100490067 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:100490067C>T ENST00000302913.4 - 3 1579 c.1441G>A c.(1441-1443)Gag>Aag p.E481K ACHE_ENST00000428317.1_Missense_Mutation_p.E481K|ACHE_ENST00000419336.2_Missense_Mutation_p.E393K|ACHE_ENST00000412389.1_Missense_Mutation_p.E481K|ACHE_ENST00000241069.5_Missense_Mutation_p.E481K|ACHE_ENST00000411582.1_Missense_Mutation_p.E481K NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 481 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) AACTCGATCTCGTAGCCGTGG 0.612000 15 29 0 0 1 0 0 KLKB1 3818 broad.mit.edu 37 4 187158078 187158078 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:187158078C>T ENST00000264690.6 + 5 659 c.472C>T c.(472-474)Cac>Tac p.H158Y KLKB1_ENST00000513864.1_Missense_Mutation_p.H158Y NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 158 Apple 2. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GCAAACATTTCACAAGGCAGA 0.403000 8 12 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126792921 126792921 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:126792921G>A ENST00000274473.6 + 26 3601 c.3334G>A c.(3334-3336)Gac>Aac p.D1112N MEGF10_ENST00000503335.2_Missense_Mutation_p.D1112N NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1112 Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TTGTCATTATGACCTGCTGCC 0.512000 21 24 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22383122 22383122 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:22383122C>T ENST00000328795.4 + 1 741 c.650C>T c.(649-651)tCc>tTc p.S217F RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 217 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) CTTCTGGCTTCCTATGCAGTC 0.502000 18 51 0 0 1 0 0 C14orf39 317761 broad.mit.edu 37 14 60923774 60923774 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:60923774C>T ENST00000321731.3 - 15 1378 c.1219G>A c.(1219-1221)Gat>Aat p.D407N NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 407 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TCATCACTATCATTTTCTACT 0.348000 23 42 0 0 1 0 0 PPP2R5E 5529 broad.mit.edu 37 14 63851225 63851225 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:63851225G>A ENST00000337537.3 - 12 1741 c.1139C>T c.(1138-1140)tCt>tTt p.S380F PPP2R5E_ENST00000422769.2_Missense_Mutation_p.S304F|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S380F|PPP2R5E_ENST00000553266.1_5'UTR NM_006246.2 NP_006237.1 Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform 380 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) GATGACGTTAGAGTTTTCTTC 0.363000 12 26 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31682348 31682348 + Missense_Mutation SNP C C A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:31682348C>A ENST00000319386.3 + 11 1913 c.920C>A c.(919-921)cCa>cAa p.P307Q CCDC129_ENST00000409210.1_Missense_Mutation_p.P363Q|CCDC129_ENST00000407970.3_Missense_Mutation_p.P455Q|CCDC129_ENST00000451887.2_Missense_Mutation_p.P481Q Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 455 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 GGTAGAAAGCCAAGAGATCAG 0.512000 12 24 2.80697e-09 2.83721e-09 1 1 0 VWA3A 146177 broad.mit.edu 37 16 22166979 22166979 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:22166979C>T ENST00000389397.4 + 33 3665 c.803C>T c.(802-804)tCc>tTc p.S268F VWA3A_ENST00000389398.5_Missense_Mutation_p.S1166F|VWA3A_ENST00000563755.1_Missense_Mutation_p.S268F A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 1166 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CAGGCCCAATCCTTCAGGTAT 0.577000 38 39 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16980669 16980669 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:16980669C>T ENST00000379803.1 + 14 2315 c.2301C>T c.(2299-2301)ccC>ccT p.P767P SIN3B_ENST00000248054.5_Silent_p.P735P|SIN3B_ENST00000595541.1_Silent_p.P325P NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 767 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 CGCACAAGCCCCTGGACGATG 0.647000 15 30 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89259034 89259034 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:89259034G>A ENST00000336596.2 + 3 403 c.178G>A c.(178-180)Gaa>Aaa p.E60K EPHA3_ENST00000494014.1_Missense_Mutation_p.E60K|EPHA3_ENST00000452448.2_Missense_Mutation_p.E60K NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 60 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) TGGTGTGGATGAACATTACAC 0.448000 TSP Lung(6;0.00050) 7 14 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24873720 24873720 + Nonsense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:24873720G>T ENST00000396432.2 - 26 5984 c.5498C>A c.(5497-5499)tCa>tAa p.S1833* NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1832 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GTTTACAGCTGAAAGTTCAGA 0.507000 18 6 6.94344e-10 7.02665e-10 1 1 0 PCDHB3 56132 broad.mit.edu 37 5 140481345 140481345 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140481345C>T ENST00000231130.2 + 1 1112 c.1112C>T c.(1111-1113)tCt>tTt p.S371F AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 371 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCAGTGTTTCTGATCTAGAC 0.458000 15 51 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993283 140993283 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:140993283C>T ENST00000285879.4 + 4 379 c.93C>T c.(91-93)tcC>tcT p.S31S MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 31 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) GGGAGGACTCCCAGTCTCCTC 0.582000 HNSCC(15;0.026) 33 60 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640389 57640389 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:57640389G>A ENST00000254181.4 + 4 800 c.346G>A c.(346-348)Gat>Aat p.D116N USP29_ENST00000598197.1_Missense_Mutation_p.D116N NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 116 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCTGATGATGATTGGAGTGT 0.353000 12 26 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49695236 49695236 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:49695236C>T ENST00000296452.4 + 5 8361 c.8247C>T c.(8245-8247)atC>atT p.I2749I NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2749 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCATCCAGATCGTCACCCCAG 0.627000 17 26 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122399963 122399963 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:122399963C>T ENST00000288912.4 + 15 3241 c.2387C>T c.(2386-2388)cCc>cTc p.P796L WDR66_ENST00000397454.2_Missense_Mutation_p.P796L|WDR66_ENST00000545752.1_3'UTR NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 796 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) GGCTGCTATCCCACCTGCATG 0.498000 30 45 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140955826 140955826 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140955826C>T ENST00000253811.6 - 14 1572 c.1432G>A c.(1432-1434)Gaa>Aaa p.E478K DIAPH1_ENST00000398562.2_Missense_Mutation_p.E469K|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E469K|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E424K|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E469K|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E478K|DIAPH1_ENST00000398557.4_Missense_Mutation_p.E478K|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E469K O60610 DIAP1_HUMAN diaphanous-related formin 1 478 regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTTTGGCTTCAGATTTCTCC 0.348000 14 29 0 0 1 0 0 TUBA4A 7277 broad.mit.edu 37 2 220115176 220115176 + Missense_Mutation SNP C C G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:220115176C>G ENST00000392088.2 - 4 1755 c.1200G>C c.(1198-1200)gaG>gaC p.E400D TUBA4A_ENST00000248437.4_Missense_Mutation_p.E415D NM_001278552.1 NP_001265481.1 P68366 TBA4A_HUMAN tubulin, alpha 4a 415 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGAACTCACCCTCCTCCATGC 0.597000 39 21 0 0 1 0 0 IGHV3-9 28451 broad.mit.edu 37 14 106552566 106552566 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:106552566C>T ENST00000390600.2 - 0 152 CCCCCAGACTCCACCAGCTGC 0.542000 9 46 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118344383 118344383 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:118344383C>T ENST00000534358.1 + 3 2532 c.2509C>T c.(2509-2511)Cct>Tct p.P837S KMT2A_ENST00000389506.5_Missense_Mutation_p.P837S|KMT2A_ENST00000354520.4_Missense_Mutation_p.P837S NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TCCTCTCTTCCCTTGGTTTAC 0.507000 14 19 0 0 1 0 0 KRT76 51350 broad.mit.edu 37 12 53170615 53170615 + Missense_Mutation SNP C C A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:53170615C>A ENST00000332411.2 - 1 514 c.461G>T c.(460-462)gGa>gTa p.G154V NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 154 Head. 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 TTCCTGAATTCCCCCAGGAAA 0.582000 11 16 5.50884e-06 5.53176e-06 1 1 0 CSF1 1435 broad.mit.edu 37 1 110460044 110460044 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:110460044C>T ENST00000329608.6 + 4 746 c.355C>T c.(355-357)Ctg>Ttg p.L119L CSF1_ENST00000420111.2_Silent_p.L119L|CSF1_ENST00000369802.3_Silent_p.L119L|CSF1_ENST00000344188.5_Silent_p.L119L|CSF1_ENST00000369801.1_Silent_p.L119L|CSF1_ENST00000526001.1_3'UTR NM_000757.5|NM_172211.3 NP_000748.3|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 119 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CTCTTTGAGGCTGAAGAGCTG 0.542000 64 125 0 0 1 0 0 LINC00477 144360 broad.mit.edu 37 12 24736811 24736811 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:24736811G>A ENST00000483544.1 - 0 291 NR_029451.2 GCTGCCCTAGGAAACGAAGTA 0.527000 19 28 0 0 1 0 0 TBX22 50945 broad.mit.edu 37 X 79279631 79279631 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:79279631C>T ENST00000442340.1 + 4 556 c.66C>T c.(64-66)atC>atT p.I22I TBX22_ENST00000373291.1_Silent_p.I22I|TBX22_ENST00000373294.5_Silent_p.I142I|TBX22_ENST00000373296.3_Silent_p.I142I NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 142 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 ATGTGGCCATCGATGTGGTGC 0.527000 21 24 0 0 1 0 0 MS4A1 931 broad.mit.edu 37 11 60230003 60230003 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:60230003G>A ENST00000534668.1 + 2 445 c.156G>A c.(154-156)ttG>ttA p.L52L MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000389939.2_Silent_p.L52L|MS4A1_ENST00000532073.1_Silent_p.L52L|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Silent_p.L52L NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 52 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) CTAAGACTTTGGGGGTAAGTC 0.488000 13 20 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6147630 6147630 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:6147630C>T ENST00000588304.1 + 3 537 c.91C>T c.(91-93)Ctg>Ttg p.L31L ACSBG2_ENST00000591403.1_Silent_p.L81L|ACSBG2_ENST00000586696.1_Silent_p.L81L|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Silent_p.L81L Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 81 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTGGGAAATTCTGAATTTCAA 0.423000 34 60 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115488946 115488946 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:115488946G>A ENST00000369522.3 + 26 2431 c.2191G>A c.(2191-2193)Gaa>Aaa p.E731K SYCP1_ENST00000369518.1_Missense_Mutation_p.E731K NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 731 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAGAGACTCAGAATTAGGACT 0.313000 12 27 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236143953 236143953 + Splice_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:236143953C>T ENST00000264187.6 - 17 3310 c.3227_splice c.e17-1 p.G1076_splice NID1_ENST00000366595.3_Splice_Site_p.G943_splice NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 1076 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) AGTAAAGGTTCCTGGAGGAGG 0.428000 4 12 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114111177 114111177 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:114111177C>T ENST00000297405.5 - 5 969 c.725G>A c.(724-726)gGa>gAa p.G242E CSMD3_ENST00000352409.3_Missense_Mutation_p.G242E|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Missense_Mutation_p.G202E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G242E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 242 CUB 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CATTGTTCCTCCACAAGCATC 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 15 0 0 1 0 0 TBC1D22B 55633 broad.mit.edu 37 6 37247200 37247200 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:37247200G>A ENST00000373491.3 + 3 380 c.234G>A c.(232-234)gaG>gaA p.E78E NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 78 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) ATGAGGAAGAGGACTTTTCCT 0.448000 23 49 0 0 1 0 0 CAPN10 11132 broad.mit.edu 37 2 241535933 241535933 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:241535933C>T ENST00000391984.2 + 8 1672 c.1476C>T c.(1474-1476)tcC>tcT p.S492S CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.S492S|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000352879.4_Intron NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 492 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) GGCGAGTCTCCCTTAGGTGAG 0.632000 15 9 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198678839 198678839 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:198678839G>A ENST00000367376.2 + 11 1222 c.1051G>A c.(1051-1053)Gaa>Aaa p.E351K PTPRC_ENST00000348564.6_Missense_Mutation_p.E192K|PTPRC_ENST00000594404.1_Missense_Mutation_p.E190K|PTPRC_ENST00000442510.2_Missense_Mutation_p.E353K|PTPRC_ENST00000352140.3_Missense_Mutation_p.E303K NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 351 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TGATAATAAAGAAATTAAATT 0.254000 11 19 0 0 1 0 0 MTHFD2L 441024 broad.mit.edu 37 4 75167500 75167500 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:75167500C>T ENST00000395759.2 + 8 1045 c.1018C>T c.(1018-1020)Ctg>Ttg p.L340L MTHFD2L_ENST00000325278.6_Silent_p.L282L NM_001144978.1 NP_001138450.1 Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 282 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) GAACACCCTTCTGGCAGCTAA 0.378000 9 8 0 0 1 0 0 RGS2 5997 broad.mit.edu 37 1 192780138 192780138 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:192780138T>C ENST00000235382.5 + 4 333 c.302T>C c.(301-303)tTa>tCa p.L101S NM_002923.3 NP_002914.1 P41220 RGS2_HUMAN regulator of G-protein signaling 2, 24kDa 101 Necessary to inhibit protein synthesis.|RGS. cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle cytosol|internal side of plasma membrane|mitochondrion|nucleolus calmodulin binding|GTPase activator activity|signal transducer activity large_intestine(3)|lung(1)|urinary_tract(1) 5 AGGGCTTTTTTAAAGTCGGAA 0.413000 29 38 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32927434 32927434 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:32927434C>T ENST00000383763.4 + 3 1092 c.1029C>T c.(1027-1029)atC>atT p.I343I NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 343 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGCTGAGCATCGAGCAGGCCC 0.502000 13 28 0 0 1 0 0 SLC35C2 51006 broad.mit.edu 37 20 44984496 44984496 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:44984496G>A ENST00000372227.1 - 5 893 c.353C>T c.(352-354)tCc>tTc p.S118F SLC35C2_ENST00000543605.1_Missense_Mutation_p.S147F|SLC35C2_ENST00000317734.8_Missense_Mutation_p.S118F|SLC35C2_ENST00000372230.5_Missense_Mutation_p.S118F|SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000243896.2_Missense_Mutation_p.S118F Q9NQQ7 S35C2_HUMAN solute carrier family 35 (GDP-fucose transporter), member C2 118 transport integral to membrane cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) GACAGCTGAGGATTTGGTCAT 0.532000 31 39 0 0 1 0 0 WFDC6 140870 broad.mit.edu 37 20 44168017 44168017 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:44168017C>T ENST00000600168.1 - 1 117 c.30G>A c.(28-30)ctG>ctA p.L10L WFDC6_ENST00000372670.3_Silent_p.L10L|EPPIN-WFDC6_ENST00000504988.1_Intron|EPPIN_ENST00000555685.1_Intron WAP four-disulfide core domain 6 breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 Myeloproliferative disorder(115;0.0122) TGAATGGTACCAGGATTGGCA 0.517000 13 25 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116631937 116631937 + Missense_Mutation SNP C C G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:116631937C>G ENST00000395715.3 - 3 965 c.388G>C c.(388-390)Gct>Cct p.A130P TRPS1_ENST00000520276.1_Missense_Mutation_p.A121P|TRPS1_ENST00000220888.5_Missense_Mutation_p.A117P|TRPS1_ENST00000519076.1_Splice_Site|TRPS1_ENST00000519674.1_Missense_Mutation_p.A117P NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 117 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CCCCCAGCAGCTGGAGATGAG 0.537000 Langer-Giedion syndrome 28 33 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43400391 43400391 + Missense_Mutation SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:43400391T>A ENST00000244533.3 + 1 903 c.544T>A c.(544-546)Tcc>Acc p.S182T ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.S225T NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 225 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GTCACGCTTTTCCTATGCCTG 0.642000 37 97 0 0 1 0 0 RHBDL2 54933 broad.mit.edu 37 1 39377005 39377005 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:39377005C>T ENST00000289248.2 - 4 1505 c.497G>A c.(496-498)gGa>gAa p.G166E RHBDL2_ENST00000372985.3_Missense_Mutation_p.G246E|RHBDL2_ENST00000372990.1_Missense_Mutation_p.G166E|RHBDL2_ENST00000538156.1_Missense_Mutation_p.G233E|RP5-864K19.4_ENST00000433671.2_RNA Q9NX52 RHBL2_HUMAN rhomboid, veinlet-like 2 (Drosophila) 166 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 8 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TGCAATCACTCCTGCCAGGTA 0.453000 12 13 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027208 37027208 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:37027208G>A ENST00000358047.3 + 1 777 c.725G>A c.(724-726)gGa>gAa p.G242E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 242 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCAGAGACTGGAGTGTCCCAT 0.632000 26 55 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233515109 233515109 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:233515109A>T ENST00000366624.3 + 9 2618 c.2357A>T c.(2356-2358)gAg>gTg p.E786V MLK4_ENST00000366622.1_Missense_Mutation_p.E232V NM_032435.2 NP_115811.2 ACCTGTGGGGAGGCCAGCAGC 0.592000 22 26 0 0 1 0 0 PNMA3 29944 broad.mit.edu 37 X 152225436 152225436 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:152225436C>T ENST00000447306.1 + 2 360 c.24C>T c.(22-24)gaC>gaT p.D8D PNMA3_ENST00000370264.4_Silent_p.D8D|PNMA3_ENST00000370265.4_Silent_p.D8D NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 8 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) tgttacaggactggtgtcggg 0.572000 25 48 0 0 1 0 0 OR10T2 128360 broad.mit.edu 37 1 158369201 158369201 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:158369201G>A ENST00000334438.1 - 1 55 c.56C>T c.(55-57)tCc>tTc p.S19F NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) CCCCAGGCTGGAGAAACCCAC 0.458000 7 11 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48285607 48285607 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:48285607C>T ENST00000320048.1 + 1 195 c.195C>T c.(193-195)tcC>tcT p.S65S NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 GCTACTTATCCTTTGTGGAGA 0.488000 15 31 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70981405 70981405 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:70981405G>A ENST00000357250.6 - 14 1254 c.1096C>T c.(1096-1098)Cct>Tct p.P366S COL9A1_ENST00000370499.4_Missense_Mutation_p.P123S|COL9A1_ENST00000320755.7_Missense_Mutation_p.P123S|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 366 Triple-helical region (COL3). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GCTGTCCCAGGAGGACCCTGA 0.368000 11 8 0 0 1 0 0 TLR6 10333 broad.mit.edu 37 4 38828713 38828713 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:38828713C>T ENST00000436693.2 - 2 2501 c.2382G>A c.(2380-2382)gtG>gtA p.V794V TLR6_ENST00000381950.1_Silent_p.V794V NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 794 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTTAAGATTTCACATCATTGT 0.373000 3 8 0 0 1 0 0 UBAP2L 9898 broad.mit.edu 37 1 154207139 154207139 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:154207139G>A ENST00000428931.1 + 5 519 c.352G>A c.(352-354)Gag>Aag p.E118K UBAP2L_ENST00000343815.6_Missense_Mutation_p.E118K|UBAP2L_ENST00000361546.2_Missense_Mutation_p.E118K|UBAP2L_ENST00000271877.7_Missense_Mutation_p.E118K NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 118 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) GGAATCCAATGAGGAAGGCAA 0.547000 7 11 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202396218 202396218 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:202396218G>A ENST00000406302.3 + 5 905 c.752G>A c.(751-753)tGg>tAg p.W251* PPP1R12B_ENST00000480184.1_Nonsense_Mutation_p.W251*|PPP1R12B_ENST00000356764.2_Nonsense_Mutation_p.W251*|PPP1R12B_ENST00000336894.4_Nonsense_Mutation_p.W251* NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 251 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) TATGATGGCTGGACTCCCCTC 0.413000 19 35 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838390 16838390 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:16838390G>A ENST00000355661.3 - 11 1833 c.1823C>T c.(1822-1824)tCg>tTg p.S608L PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S608L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S608L Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 608 Interaction with CTNND1. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 ATCCCCCAGCGAGATGTCCAC 0.662000 22 32 0 0 1 0 0 NDUFV1 4723 broad.mit.edu 37 11 67378902 67378902 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:67378902C>T ENST00000322776.6 + 7 1095 c.942C>T c.(940-942)ctC>ctT p.L314L NDUFV1_ENST00000415352.2_Silent_p.L307L|NDUFV1_ENST00000529927.1_Silent_p.L305L|NDUFV1_ENST00000532303.1_Silent_p.L213L|NDUFV1_ENST00000526169.1_Intron NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 314 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) GGGACAACCTCCTTGCTGTGA 0.647000 14 17 0 0 1 0 0 TRAV12-1 28674 broad.mit.edu 37 14 22309670 22309670 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:22309670G>A ENST00000390433.1 + 0 54 TTTTCACAGGGGTTTGGAGCC 0.468000 7 22 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50121158 50121158 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:50121158G>A ENST00000376025.2 - 0 3108 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CCTGGTCTCTGAATCCAGGCC 0.488000 6 16 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56432089 56432089 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:56432089C>T ENST00000302969.2 + 1 952 c.928C>T c.(928-930)Caa>Taa p.Q310* NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 AAAAAAATCTCAATAATAACA 0.348000 6 9 0 0 1 0 0 PRKX 5613 broad.mit.edu 37 X 3592716 3592716 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:3592716G>A ENST00000262848.5 - 2 612 c.258C>T c.(256-258)atC>atT p.I86I NM_005044.4 NP_005035.1 P51817 PRKX_HUMAN protein kinase, X-linked 86 Protein kinase. ATP binding|cAMP-dependent protein kinase activity kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2) 12 all_lung(23;0.000396)|Lung NSC(23;0.00123) GCTTTAGGCGGATGACGTCGG 0.567000 25 42 0 0 1 0 0 GORAB 92344 broad.mit.edu 37 1 170521559 170521559 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:170521559C>T ENST00000367763.3 + 5 1161 c.1141C>T c.(1141-1143)Cca>Tca p.P381S NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 381 Necessary for interaction with RCHY1. Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 TCCAAACTGCCCAAATCAAGA 0.398000 30 56 0 0 1 0 0 NIPAL3 57185 broad.mit.edu 37 1 24795649 24795649 + Missense_Mutation SNP G G C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:24795649G>C ENST00000003912.3 + 13 1664 c.949G>C c.(949-951)Gtc>Ctc p.V317L NIPAL3_ENST00000374399.4_Missense_Mutation_p.V399L Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 399 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 CCCCTACCGAGTCCTAGAGCA 0.522000 9 14 0 0 1 0 0 FGF9 2254 broad.mit.edu 37 13 22255241 22255241 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:22255241G>A ENST00000382353.5 + 2 868 c.338G>A c.(337-339)gGa>gAa p.G113E NM_002010.2 NP_002001.1 P31371 FGF9_HUMAN fibroblast growth factor 9 113 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) GTGGACAGTGGACTCTACCTC 0.483000 39 36 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44934628 44934628 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:44934628C>T ENST00000291187.4 - 6 632 c.310G>A c.(310-312)Gaa>Aaa p.E104K ZNF229_ENST00000588931.1_Missense_Mutation_p.E110K|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 110 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GCCACCTCTTCCCAGATTTTG 0.438000 17 22 0 0 1 0 0 TMEM54 113452 broad.mit.edu 37 1 33360931 33360931 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:33360931C>T ENST00000373463.3 - 5 688 c.569G>A c.(568-570)tGg>tAg p.W190* TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Nonsense_Mutation_p.W137* NM_033504.2 NP_277039.1 Q969K7 TMM54_HUMAN transmembrane protein 54 190 integral to membrane endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TTTCCCCCACCAGGGCCTCAG 0.642000 5 12 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684294 75684294 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:75684294G>A ENST00000370855.5 - 17 1523 c.1410C>T c.(1408-1410)ttC>ttT p.F470F SLC44A5_ENST00000535611.1_Silent_p.F340F|SLC44A5_ENST00000370859.3_Silent_p.F470F NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 470 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 ATGCAATGACGAAGTTTATAA 0.418000 28 47 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50958438 50958438 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:50958438C>T ENST00000357701.5 + 19 2139 c.2088C>T c.(2086-2088)acC>acT p.T696T NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 696 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TCACAGAGACCACCTATGAGT 0.547000 17 24 0 0 1 0 0 RALGPS1 9649 broad.mit.edu 37 9 129831519 129831519 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:129831519G>A ENST00000259351.5 + 8 761 c.494G>A c.(493-495)cGa>cAa p.R165Q RALGPS1_ENST00000373436.1_Missense_Mutation_p.R165Q|RALGPS1_ENST00000424082.2_Missense_Mutation_p.R165Q|RALGPS1_ENST00000394022.3_Missense_Mutation_p.R165Q|RALGPS1_ENST00000373434.1_Missense_Mutation_p.R165Q NM_014636.2 NP_055451.1 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 165 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 CTTTTAAATCGAAAAGACAAG 0.368000 10 9 0 0 1 0 0 GAGE2A 729447 broad.mit.edu 37 X 49355893 49355893 + Missense_Mutation SNP C C G rs147803166 by1000genomes TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:49355893C>G ENST00000362097.1 + 3 258 c.175C>G c.(175-177)Cag>Gag p.Q59E NM_001127212.1 NP_001120684.1 G antigen 2A p.Q59E(8) endometrium(4) 4 Ovarian(276;0.236) TCAGGAGGGACAGGATGAGGG 0.562000 6 655 0 0 1 0 0 NOX4 50507 broad.mit.edu 37 11 89224397 89224397 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:89224397C>T ENST00000263317.4 - 1 256 c.18G>A c.(16-18)agG>agA p.R6R NOX4_ENST00000532825.1_Intron|NOX4_ENST00000424319.1_Intron|NOX4_ENST00000375979.3_Silent_p.R6R|NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000531342.1_Silent_p.R6R|NOX4_ENST00000527956.1_Intron|NOX4_ENST00000525196.1_Silent_p.R6R|NOX4_ENST00000534731.1_Silent_p.R6R|NOX4_ENST00000535633.1_5'UTR|NOX4_ENST00000542487.1_Intron|NOX4_ENST00000393282.2_Silent_p.R6R Q9NPH5 NOX4_HUMAN NADPH oxidase 4 6 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) CGAGCCAGCTCCTCCAGGACA 0.652000 13 13 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83793119 83793119 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:83793119G>A ENST00000432794.1 - 7 923 c.760C>T c.(760-762)Cgt>Tgt p.R254C SEC31A_ENST00000508479.1_Missense_Mutation_p.R254C|SEC31A_ENST00000513858.1_Missense_Mutation_p.R254C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000509142.1_Missense_Mutation_p.R254C|SEC31A_ENST00000508502.1_Missense_Mutation_p.R254C|SEC31A_ENST00000505984.1_Missense_Mutation_p.R254C|SEC31A_ENST00000505472.1_Missense_Mutation_p.R254C|SEC31A_ENST00000500777.2_Missense_Mutation_p.R254C|SEC31A_ENST00000448323.1_Missense_Mutation_p.R254C|SEC31A_ENST00000443462.2_Missense_Mutation_p.R249C|SEC31A_ENST00000395310.2_Missense_Mutation_p.R254C|SEC31A_ENST00000355196.2_Missense_Mutation_p.R254C|SEC31A_ENST00000348405.4_Missense_Mutation_p.R254C|SEC31A_ENST00000326950.5_Missense_Mutation_p.R254C|SEC31A_ENST00000311785.7_Missense_Mutation_p.R254C O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 254 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) TCCAGGACACGAAGTGGAGAG 0.463000 6 17 0 0 1 0 0 SMAD3 4088 broad.mit.edu 37 15 67457672 67457672 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:67457672C>T ENST00000327367.4 + 3 792 c.482C>T c.(481-483)cCc>cTc p.P161L SMAD3_ENST00000540846.2_Missense_Mutation_p.P56L|SMAD3_ENST00000439724.3_Missense_Mutation_p.P117L NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 161 Linker. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) CATTCCATCCCCGAAAACACT 0.632000 50 106 0 0 1 0 0 CYTH4 27128 broad.mit.edu 37 22 37695268 37695268 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:37695268G>A ENST00000248901.6 + 6 542 c.353_splice c.e6-1 p.D119_splice CYTH4_ENST00000405206.3_Splice_Site_p.D119_splice|CYTH4_ENST00000402997.1_Splice_Site_p.D119_splice|CYTH4_ENST00000439667.1_3'UTR NM_013385.3 NP_037517.1 Q9UIA0 CYH4_HUMAN cytohesin 4 119 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 CTCCCCCAGGGATCCCATCAA 0.647000 5 51 0 0 1 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135764997 135764997 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:135764997C>T ENST00000250617.6 - 13 2604 c.1399G>A c.(1399-1401)Gag>Aag p.E467K ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E340K|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E313K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E313K NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 467 PH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) TACCGCTCCTCTTTTTCCTGA 0.343000 7 19 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121340811 121340811 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:121340811G>A ENST00000338040.4 + 3 949 c.535G>A c.(535-537)Ggt>Agt p.G179S NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 179 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) AGTGGATATCGGTTTGGTACC 0.498000 10 13 0 0 1 0 0 SLC46A3 283537 broad.mit.edu 37 13 29284912 29284912 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:29284912G>A ENST00000266943.6 - 4 1498 c.1129C>T c.(1129-1131)Cgt>Tgt p.R377C SLC46A3_ENST00000380814.4_Missense_Mutation_p.R377C NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 377 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) TCAGTCGAACGAACCACTTTT 0.388000 41 34 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117075099 117075099 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:117075099C>T ENST00000355044.3 + 18 3016 c.2890C>T c.(2890-2892)Cct>Tct p.P964S ATRNL1_ENST00000423111.2_Missense_Mutation_p.P61S|ATRNL1_ENST00000303745.7_5'UTR NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 964 PSI 5. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GTGCAATGATCCTAGTAATAC 0.448000 11 11 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39171455 39171455 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:39171455C>T ENST00000297668.6 - 8 1317 c.1244G>A c.(1243-1245)gGt>gAt p.G415D CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G415D|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.G415D|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G327D|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G415D NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 415 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ACTCCCTGAACCACGTCGAAG 0.502000 24 36 0 0 1 0 0 PDC 5132 broad.mit.edu 37 1 186413501 186413501 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:186413501C>T ENST00000391997.2 - 4 438 c.351G>A c.(349-351)ctG>ctA p.L117L PDC_ENST00000497198.1_Silent_p.L65L|PDC_ENST00000456239.2_Silent_p.L65L|PDC_ENST00000340129.5_Silent_p.L117L NM_002597.4 NP_002588.3 P20941 PHOS_HUMAN phosducin 117 G-protein coupled receptor protein signaling pathway|phototransduction|visual perception actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment phospholipase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 Breast(1374;1.53e-05) KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129) TTCCAGTTTCCAGCTCATACA 0.403000 30 58 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80628317 80628317 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:80628317C>T ENST00000307624.3 - 13 1398 c.1370G>A c.(1369-1371)cGa>cAa p.R457Q ACOT12_ENST00000508234.1_5'UTR NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 457 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) GGGTTTTCTTCGTGATACGAG 0.368000 10 15 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141797438 141797438 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:141797438G>A ENST00000475668.2 + 66 7792 c.7738G>A c.(7738-7740)Gat>Aat p.D2580N MGAM_ENST00000549489.2_Missense_Mutation_p.D1684N O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1684 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCGCTGGTATGATTACTACAC 0.413000 7 18 0 0 1 0 0 C8orf22 492307 broad.mit.edu 37 8 49986633 49986633 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:49986633C>T ENST00000303202.8 + 3 244 c.71C>T c.(70-72)tCa>tTa p.S24L C8orf22_ENST00000522267.1_Missense_Mutation_p.S24L|C8orf22_ENST00000399653.4_Missense_Mutation_p.S24L|C8orf22_ENST00000517663.1_Missense_Mutation_p.S24L NM_001256598.1 NP_001243527.1 Q8WWR9 PDPFL_HUMAN chromosome 8 open reading frame 22 24 large_intestine(1)|lung(7)|prostate(1) 9 all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502) AGTGTTTCTTCAGTTAGTTCT 0.333000 10 20 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117609807 117609807 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:117609807C>T ENST00000368508.3 - 43 7090 c.6892G>A c.(6892-6894)Gaa>Aaa p.E2298K ROS1_ENST00000368507.3_Missense_Mutation_p.E2292K NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2298 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CCACAAGATTCAGATTCCTGG 0.468000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 18 9 0 0 1 0 0 OR1L3 26735 broad.mit.edu 37 9 125437901 125437901 + Missense_Mutation SNP C C T rs142794411 byFrequency TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:125437901C>T ENST00000304820.2 + 1 587 c.493C>T c.(493-495)Cgg>Tgg p.R165W NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 CCTGGTGAATCGGCTCACCTT 0.428000 54 27 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147733596 147733596 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:147733596G>A ENST00000370460.2 + 2 603 c.124G>A c.(124-126)Gat>Aat p.D42N AFF2_ENST00000370457.5_Missense_Mutation_p.D42N|AFF2_ENST00000342251.3_Missense_Mutation_p.D42N|AFF2_ENST00000370458.1_Missense_Mutation_p.D42N NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 42 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GCAAGAAGACGATCTCTTTTC 0.378000 42 46 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2815273 2815273 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:2815273C>T ENST00000520002.1 - 64 10317 c.9762G>A c.(9760-9762)acG>acA p.T3254T CSMD1_ENST00000542608.1_Silent_p.T3076T|CSMD1_ENST00000537824.1_Silent_p.T3253T|CSMD1_ENST00000602723.1_Silent_p.T3077T|CSMD1_ENST00000400186.3_Silent_p.T3077T|CSMD1_ENST00000602557.1_Silent_p.T3254T Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3254 Sushi 27. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGGTGCGAGTCGTGGAACCTT 0.443000 3 2 0 0 1 0 0 SGTB 54557 broad.mit.edu 37 5 64976485 64976485 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:64976485G>A ENST00000381007.4 - 7 851 c.616C>T c.(616-618)Cct>Tct p.P206S NM_019072.2 NP_061945.1 Q96EQ0 SGTB_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta 206 binding large_intestine(3)|lung(3)|skin(3) 9 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487) CAACTTACAGGACTGGATACC 0.318000 24 49 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414309 105414309 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:105414309G>A ENST00000333244.5 - 7 7598 c.7479C>T c.(7477-7479)ttC>ttT p.F2493F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2493 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGACACCCCGAATGACGGCA 0.607000 113 183 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74270882 74270882 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:74270882C>T ENST00000295897.4 + 2 218 c.129C>T c.(127-129)ttC>ttT p.F43F ALB_ENST00000415165.2_Silent_p.F43F|ALB_ENST00000503124.1_Intron|ALB_ENST00000401494.3_Silent_p.F43F|ALB_ENST00000509063.1_Silent_p.F43F NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 43 Albumin 1. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) AAGAAAATTTCAAAGCCTTGT 0.308000 13 15 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143827039 143827039 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:143827039C>T ENST00000408899.2 + 1 889 c.834C>T c.(832-834)agC>agT p.S278S NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) TGTTTTACAGCCTTTTCAATC 0.552000 49 83 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63489473 63489473 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:63489473G>A ENST00000536984.2 + 5 1476 c.782G>A c.(781-783)cGc>cAc p.R261H CDH7_ENST00000323011.3_Missense_Mutation_p.R261H|CDH7_ENST00000397968.2_Missense_Mutation_p.R261H Q9ULB5 CADH7_HUMAN cadherin 7, type 2 261 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R261H(2) 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) AATCCACCTCGCTTTCCTCGA 0.373000 16 14 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993296 140993296 + Missense_Mutation SNP C C A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:140993296C>A ENST00000285879.4 + 4 392 c.106C>A c.(106-108)Cag>Aag p.Q36K MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 36 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) GTCTCCTCTCCAGATTCCCCA 0.577000 HNSCC(15;0.026) 33 63 8.4185e-14 8.55012e-14 1 1 0 OR8A1 390275 broad.mit.edu 37 11 124440111 124440111 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:124440111C>T ENST00000284287.3 + 1 219 c.147C>T c.(145-147)ctC>ctT p.L49L NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) TCCTCTTCCTCGGGATCTACT 0.502000 20 31 0 0 1 0 0 IGHV5-51 28388 broad.mit.edu 37 14 107034838 107034838 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:107034838G>A ENST00000390626.2 - 0 300 TTGGAAGGACGGGCTGTATCT 0.587000 21 48 0 0 1 0 0 HSD11B1 3290 broad.mit.edu 37 1 209907730 209907730 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:209907730G>A ENST00000367028.2 + 7 912 c.743G>A c.(742-744)gGg>gAg p.G248E HSD11B1_ENST00000367027.3_Missense_Mutation_p.G248E|HSD11B1_ENST00000261465.1_Missense_Mutation_p.G248E NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 248 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) ATCATCAAAGGGGGAGCTCTG 0.468000 21 17 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139222235 139222235 + Silent SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:139222235A>T ENST00000423192.1 + 20 2726 c.2565A>T c.(2563-2565)atA>atT p.I855I ECT2L_ENST00000367682.2_Silent_p.I855I|ECT2L_ENST00000541398.1_Silent_p.I709I Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 855 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 GGTTACTCATAGAAAATATTC 0.393000 """N, Splice, Mis""" ETP ALL 12 14 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99696780 99696780 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:99696780G>A ENST00000303887.5 - 5 1093 c.448C>T c.(448-450)Cgg>Tgg p.R150W MCM7_ENST00000343023.6_Missense_Mutation_p.R150W|MCM7_ENST00000354230.3_5'UTR NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 150 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) CGCACTTCCCGGATCACACGA 0.512000 16 30 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56330219 56330219 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:56330219C>T ENST00000288221.6 - 3 1157 c.902G>A c.(901-903)cGa>cAa p.R301Q NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 301 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TGACTCATCTCGGGCATTGAG 0.478000 60 119 0 0 1 0 0 SCAMP3 10067 broad.mit.edu 37 1 155230365 155230365 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:155230365G>A ENST00000355379.3 - 2 430 c.152C>T c.(151-153)cCc>cTc p.P51L SCAMP3_ENST00000302631.3_Missense_Mutation_p.P77L NM_052837.2 NP_443069.1 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 77 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AGGTTCTGTGGGGCTGAGCTT 0.607000 19 53 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132438840 132438840 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:132438840G>A ENST00000370828.3 - 7 1729 c.1205C>T c.(1204-1206)tCc>tTc p.S402F GPC4_ENST00000535467.1_Missense_Mutation_p.S332F NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 402 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) GCTCGGAAGGGAGGACCAGAA 0.423000 34 46 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26792132 26792132 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:26792132G>A ENST00000376236.4 + 6 915 c.460G>A c.(460-462)Gaa>Aaa p.E154K NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 154 Poly-Glu. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 CCAGGAAGAGGAAGAAGCCCA 0.433000 13 4 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76903203 76903203 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:76903203C>T ENST00000409709.3 + 31 4304 c.4032C>T c.(4030-4032)ctC>ctT p.L1344L MYO7A_ENST00000458637.2_Silent_p.L1344L|MYO7A_ENST00000409619.2_Silent_p.L1333L NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1344 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCTGGAGGCTCTTCTTCCGCA 0.647000 OREG0021258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 32 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151164525 151164525 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:151164525G>A ENST00000282466.3 - 4 3243 c.3244C>T c.(3244-3246)Cca>Tca p.P1082S NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1082 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCACTTGGAAAAGACAAT 0.483000 26 67 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67210939 67210939 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:67210939C>T ENST00000269081.4 - 10 1821 c.912G>A c.(910-912)ggG>ggA p.G304G ABCA10_ENST00000432313.2_Silent_p.G304G|ABCA10_ENST00000416101.2_Silent_p.G304G NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 304 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TGTATGAATCCCCAGAGGGAT 0.294000 18 27 0 0 1 0 0 CREBRF 153222 broad.mit.edu 37 5 172550206 172550206 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:172550206G>A ENST00000540014.1 + 9 2129 c.e9+1 CREBRF_ENST00000296953.2_Splice_Site Q8IUR6 CE041_HUMAN CREB3 regulatory factor protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity GATACTCTCGGTAAGAAGAAT 0.348000 12 33 0 0 1 0 0 RP11-876N24.2 0 broad.mit.edu 37 16 10960174 10960174 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:10960174C>T ENST00000572017.1 - 0 438 CATCCTGACTCAGGTGAGAAT 0.607000 4 16 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160738736 160738736 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:160738736C>T ENST00000263636.4 - 7 1172 c.1145G>A c.(1144-1146)tGg>tAg p.W382* LY75_ENST00000553424.1_Nonsense_Mutation_p.W382*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.W382*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.W382*|LY75_ENST00000554112.1_Nonsense_Mutation_p.W382* NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TGCCTTATCCCAGGAATTACT 0.448000 29 15 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17084250 17084250 + RNA SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:17084250T>A ENST00000455405.2 - 0 558 TGCTCTTACCTTTGGTCTCAC 0.602000 28 256 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103123406 103123406 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:103123406C>T ENST00000428762.1 - 63 10353 c.10194G>A c.(10192-10194)atG>atA p.M3398I RELN_ENST00000343529.5_Missense_Mutation_p.M3398I|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000424685.2_Missense_Mutation_p.M3398I|CTB-107G13.1_ENST00000422488.1_RNA NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 3398 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGACTCCTTTCATCCGTGCCT 0.433000 11 25 0 0 1 0 0 RGS7BP 401190 broad.mit.edu 37 5 63890537 63890537 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:63890537G>A ENST00000334025.2 + 4 790 c.463_splice c.e4-1 p.G155_splice NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 155 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) CCTCCCTTAGGAAAGGAACCT 0.473000 46 8 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236456 140236456 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140236456G>A ENST00000307360.5 + 1 823 c.823G>A c.(823-825)Gaa>Aaa p.E275K PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E275K|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATAAACAAGGAAATGATGTA 0.363000 14 38 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120471786 120471786 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:120471786G>A ENST00000256646.2 - 23 3924 c.3705C>T c.(3703-3705)tgC>tgT p.C1235C NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1235 EGF-like 32; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CACCATTAAGGCAATGGGGAC 0.507000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 10 15 0 0 1 0 0 PRSS8 5652 broad.mit.edu 37 16 31143657 31143657 + Splice_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:31143657C>T ENST00000317508.6 - 6 969 c.e6-1 PRSS8_ENST00000568261.1_Splice_Site NM_002773.3 NP_002764.1 Q16651 PRSS8_HUMAN protease, serine, 8 proteolysis extracellular space|integral to membrane|plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 8 CAGAGTCACCCTGAGGAGAGA 0.657000 8 19 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23716293 23716293 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:23716293G>A ENST00000256797.4 - 8 1077 c.909C>T c.(907-909)ttC>ttT p.F303F ERN2_ENST00000457008.2_Silent_p.F255F NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 255 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GGAGGGCGAGGAAATGCAGAG 0.662000 20 37 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554308 140554308 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140554308G>A ENST00000231137.3 + 1 2066 c.1892G>A c.(1891-1893)aGc>aAc p.S631N NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 631 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCTGCTGAGCGAGCGCGAC 0.687000 31 151 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41539195 41539195 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr21:41539195C>T ENST00000400454.1 - 16 3445 c.2968G>A c.(2968-2970)Gaa>Aaa p.E990K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 990 Fibronectin type-III 2. 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) AGGTGAACTTCCTGAGGTGGA 0.532000 22 10 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 373193 373193 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:373193G>A ENST00000329962.6 + 6 538 c.538G>A c.(538-540)Gac>Aac p.D180N NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 180 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGACTAGGAGACGTCCAGTT 0.642000 10 18 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118362005 118362005 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:118362005C>T ENST00000534358.1 + 14 4814 c.4791C>T c.(4789-4791)tcC>tcT p.S1597S KMT2A_ENST00000389506.5_Silent_p.S1597S|KMT2A_ENST00000354520.4_Silent_p.S1559S NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GGGTCCATTCCAAATGTGAGA 0.378000 23 46 0 0 1 0 0 MAGED1 9500 broad.mit.edu 37 X 51641707 51641707 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:51641707G>A ENST00000375695.2 + 11 2133 c.1980G>A c.(1978-1980)agG>agA p.R660R MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.R604R|MAGED1_ENST00000375722.1_Silent_p.R604R|MAGED1_ENST00000375772.3_Silent_p.R604R NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 604 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) GAGATCTAAGGAAACTTCTCA 0.448000 Multiple Myeloma(10;0.10) 6 10 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55583112 55583112 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:55583112G>A ENST00000361849.3 - 34 4774 c.4380C>T c.(4378-4380)ttC>ttT p.F1460F PCDH15_ENST00000395432.2_Silent_p.F1418F|PCDH15_ENST00000395433.1_Silent_p.F1435F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Silent_p.F1458F|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Silent_p.F1455F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Silent_p.F1389F|PCDH15_ENST00000395446.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1458 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GGTAGAGAAGGAAAAGACTTG 0.348000 HNSCC(58;0.16) 10 3 0 0 1 0 0 RAVER1 125950 broad.mit.edu 37 19 10439630 10439630 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:10439630G>A ENST00000293677.6 - 3 576 c.495C>T c.(493-495)ttC>ttT p.F165F NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 148 RRM 2. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CCAGCTCCTCGAACTGCTGCT 0.642000 7 10 0 0 1 0 0 KY 339855 broad.mit.edu 37 3 134322946 134322946 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:134322946C>T ENST00000508956.1 - 10 1455 c.1398G>A c.(1396-1398)gaG>gaA p.E466E KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.E487E Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 487 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 TAATGCCCTCCTCCACGCTGA 0.612000 4 10 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70988446 70988446 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:70988446G>A ENST00000334414.6 - 6 1361 c.1317C>T c.(1315-1317)tcC>tcT p.S439S PTPRB_ENST00000550358.1_Silent_p.S439S|PTPRB_ENST00000538708.1_Silent_p.S221S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Silent_p.S221S|PTPRB_ENST00000550857.1_Silent_p.S221S|PTPRB_ENST00000551525.1_Silent_p.S438S|PTPRB_ENST00000261266.5_Silent_p.S221S NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 221 Fibronectin type-III 5. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CATGGGACCAGGAAATCAGGA 0.433000 18 19 0 0 1 0 0 SPANXN3 139067 broad.mit.edu 37 X 142596840 142596840 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:142596840G>A ENST00000370503.2 - 2 313 c.230C>T c.(229-231)tCc>tTc p.S77F GS1-256O22.5_ENST00000431432.1_RNA NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 77 p.S77F(1) endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TGGATTGATGGAGTTCTCTTG 0.393000 30 55 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144886128 144886128 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:144886128C>T ENST00000369359.4 - 26 3555 c.3517G>A c.(3517-3519)Gaa>Aaa p.E1173K PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1102K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1036K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1173K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1036K Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1036 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AATCCTGCTTCCTCAATTTGA 0.532000 T PDGFRB MPD 12 69 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105906093 105906093 + Silent SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:105906093T>C ENST00000357060.3 - 30 3898 c.3783A>G c.(3781-3783)gaA>gaG p.E1261E WDR96_ENST00000428666.1_Intron NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1261 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCCGAACAGCTTCTGAAGTCT 0.413000 17 14 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142487888 142487888 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:142487888G>A ENST00000430863.1 - 0 1433 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TCAGACACTGGAGGAGCTCAG 0.612000 13 10 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076622 57076622 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:57076622G>A ENST00000532437.1 - 5 3874 c.3563C>T c.(3562-3564)gCc>gTc p.A1188V TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1188V Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1188 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CTGTCCCACGGCACTCTCCCT 0.617000 51 76 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57206380 57206380 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:57206380C>T ENST00000343433.6 - 13 1773 c.1693G>A c.(1693-1695)Gaa>Aaa p.E565K C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 565 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CTTAAGTTTTCTTTCGACTTG 0.363000 6 9 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118535150 118535150 + Missense_Mutation SNP T T G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:118535150T>G ENST00000336338.5 - 36 5365 c.5300A>C c.(5299-5301)cAa>cCa p.Q1767P NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1767 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTGAATGAATTGGCGCATCTG 0.473000 30 37 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109677680 109677680 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:109677680C>T ENST00000338432.7 + 35 4827 c.4708C>T c.(4708-4710)Ctg>Ttg p.L1570L ACACB_ENST00000377848.3_Silent_p.L1570L|ACACB_ENST00000543201.1_Silent_p.L236L|ACACB_ENST00000377854.5_Silent_p.L1500L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1570 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GCGGCTGCTCCTGGAGGCCAT 0.607000 14 22 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66191399 66191399 + Silent SNP C C T rs144417328 byFrequency TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:66191399C>T ENST00000311034.2 + 7 1214 c.1038C>T c.(1036-1038)ttC>ttT p.F346F NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 346 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 TGCCCTCATTCCCTGAAAACA 0.582000 53 107 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135593836 135593836 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:135593836G>A ENST00000535601.1 + 10 2354 c.1932G>A c.(1930-1932)gaG>gaA p.E644E HTATSF1_ENST00000218364.4_Silent_p.E644E NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 644 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) AGTCTGATGAGAAAGAGGATG 0.403000 22 42 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29608162 29608162 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:29608162G>A ENST00000431530.3 + 2 2434 c.2376G>A c.(2374-2376)aaG>aaA p.K792K NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 782 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CATCTGCAAAGAGCAGGATTC 0.517000 41 16 0 0 1 0 0 CCT3 7203 broad.mit.edu 37 1 156280936 156280936 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:156280936G>A ENST00000295688.3 - 12 1486 c.1206C>T c.(1204-1206)ctC>ctT p.L402L CCT3_ENST00000472765.2_Silent_p.L357L|CCT3_ENST00000368261.3_Silent_p.L357L|CCT3_ENST00000368259.2_Silent_p.L364L NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) 402 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding p.L402L(1) endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) GAGGGTCCAGGAGAACATTGC 0.532000 16 15 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811619 5811619 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:5811619G>A ENST00000381095.3 - 6 2317 c.1690C>T c.(1690-1692)Ccc>Tcc p.P564S NLGN4X_ENST00000538097.1_Missense_Mutation_p.P564S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P584S|NLGN4X_ENST00000381092.1_Missense_Mutation_p.P564S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P564S NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 564 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TGGTCTTTGGGATTATACTTG 0.458000 29 45 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1605798 1605798 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:1605798C>T ENST00000382171.2 - 1 715 c.682G>A c.(682-684)Gga>Aga p.G228R KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 228 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCGCAGCCTCCCTTAGACCCC 0.642000 41 63 0 0 1 0 0 RAD9A 5883 broad.mit.edu 37 11 67161204 67161204 + Missense_Mutation SNP C C T rs140448721 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:67161204C>T ENST00000307980.2 + 5 485 c.392C>T c.(391-393)tCc>tTc p.S131F NM_001243224.1|NM_004584.2 NP_001230153.1|NP_004575.1 Q99638 RAD9A_HUMAN RAD9 homolog A (S. pombe) 131 DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding lung(7)|upper_aerodigestive_tract(1) 8 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) GACTGTGAGTCCCTGCAGGCC 0.672000 Other conserved DNA damage response genes 7 15 0 0 1 0 0 EEA1 8411 broad.mit.edu 37 12 93209994 93209994 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:93209994G>A ENST00000322349.8 - 15 2175 c.1911C>T c.(1909-1911)gtC>gtT p.V637V NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 637 Gln/Glu/Lys-rich. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 CAAGCTGGGAGACCTTCTCCT 0.358000 12 23 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51947229 51947229 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:51947229G>A ENST00000371117.3 - 4 517 c.242C>T c.(241-243)cCt>cTt p.P81L PKHD1_ENST00000340994.4_Missense_Mutation_p.P81L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 81 IPT/TIG 1; atypical. 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) CAAGAAAACAGGAAAGACGTC 0.498000 65 131 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57741223 57741223 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:57741223G>A ENST00000269122.3 + 9 1663 c.1389G>A c.(1387-1389)ctG>ctA p.L463L CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Silent_p.L463L NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 463 Binding site for the uncoating ATPase, involved in lattice disassembly (Potential).|Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CTGAAGAACTGGGTGATCTTG 0.413000 T """ALK, TFE3""" """ALCL, renal """ 10 31 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65350614 65350614 + Silent SNP C C T rs149841839 byFrequency TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:65350614C>T ENST00000330909.8 - 20 3287 c.3288G>A c.(3286-3288)tcG>tcA p.S1096S MAGI1_ENST00000497477.2_Silent_p.S1001S|MAGI1_ENST00000402939.2_Silent_p.S1068S|MAGI1_ENST00000483466.1_Silent_p.S1097S NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1097 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) AGGTGGCATTCGAGGACTCTG 0.517000 35 54 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73071070 73071070 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:73071070C>T ENST00000429829.1 - 0 1518 NR_001564.2 GCAAGCCCGCCATGATGTCCA 0.517000 42 54 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108822756 108822756 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:108822756C>T ENST00000232603.5 - 4 245 c.163G>A c.(163-165)Gaa>Aaa p.E55K MORC1_ENST00000483760.1_Missense_Mutation_p.E55K|MORC1-AS1_ENST00000480826.1_RNA NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 55 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TGCAGTTTTTCATTATCCACT 0.383000 21 42 0 0 1 0 0 GDF15 9518 broad.mit.edu 37 19 18499348 18499348 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:18499348G>A ENST00000595973.1 + 3 1081 c.530G>A c.(529-531)cGg>cAg p.R177Q GDF15_ENST00000252809.3_Missense_Mutation_p.R177Q Q99988 GDF15_HUMAN growth differentiation factor 15 177 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 TCGTCCGCACGGCCCCAGCTG 0.731000 OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 3 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35794068 35794068 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:35794068G>A ENST00000342694.2 + 2 1096 c.841G>A c.(841-843)Gaa>Aaa p.E281K NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 281 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) TCGCACCCGGgaacaggccca 0.567000 15 17 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28576771 28576771 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:28576771G>A ENST00000434452.1 - 15 2633 c.2479C>T c.(2479-2481)Ccc>Tcc p.P827S DSC3_ENST00000360428.4_Missense_Mutation_p.P827S NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 827 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) CCGAGACGGGGTTGAGTAAAA 0.453000 12 24 0 0 1 0 0 ACBD7 414149 broad.mit.edu 37 10 15120536 15120536 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:15120536C>T ENST00000356189.5 - 4 307 c.260G>A c.(259-261)gGa>gAa p.G87E ACBD7_ENST00000496890.1_5'UTR NM_001039844.2 NP_001034933.1 Q8N6N7 ACBD7_HUMAN acyl-CoA binding domain containing 7 87 ACB. fatty-acyl-CoA binding endometrium(1)|lung(4)|prostate(1) 6 ATTCTAAATTCCGTATTTTTC 0.383000 26 11 0 0 1 0 0 ALG10 84920 broad.mit.edu 37 12 34179653 34179653 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:34179653C>T ENST00000266483.2 + 3 1544 c.1225C>T c.(1225-1227)Cct>Tct p.P409S RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 409 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) TGTTATAGTTCCTCAGAAACT 0.353000 24 56 0 0 1 0 0 MFNG 4242 broad.mit.edu 37 22 37875454 37875454 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:37875454C>T ENST00000356998.3 - 4 713 c.490G>A c.(490-492)Gac>Aac p.D164N MFNG_ENST00000416983.3_Missense_Mutation_p.D150N NM_002405.3 NP_002396.2 O00587 MFNG_HUMAN MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 164 pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) ACATAGACGTCGCGGGCCAGC 0.627000 13 52 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73567159 73567159 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:73567159C>T ENST00000224721.6 + 57 8324 c.8319C>T c.(8317-8319)atC>atT p.I2773I CDH23_ENST00000398788.3_Silent_p.I528I|CDH23_ENST00000475158.1_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2768 Cadherin 26. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 ACTACTTCATCGCAGGTGGGG 0.627000 8 6 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61952405 61952405 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:61952405C>T ENST00000422202.1 + 25 3283 c.3215C>T c.(3214-3216)tCc>tTc p.S1072F COL20A1_ENST00000326996.6_Missense_Mutation_p.S1065F|COL20A1_ENST00000435874.1_Missense_Mutation_p.S1072F|COL20A1_ENST00000358894.6_Missense_Mutation_p.S1065F Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 1065 Collagen-like 1. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) TCTGCCTGTTCCTGTTCCTCA 0.612000 3 3 0 0 1 0 0 FBXO41 150726 broad.mit.edu 37 2 73491468 73491468 + Missense_Mutation SNP C C T rs142820235 by1000genomes TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:73491468C>T ENST00000521871.1 - 6 2159 c.1744G>A c.(1744-1746)Gtg>Atg p.V582M FBXO41_ENST00000295133.5_Missense_Mutation_p.V643M|FBXO41_ENST00000520530.2_Missense_Mutation_p.V582M Q8TF61 FBX41_HUMAN F-box protein 41 582 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 TGGCGGGCCACGAAGCGCCAG 0.627000 45 18 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67799934 67799934 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:67799934G>A ENST00000544246.1 - 2 3330 c.2639C>T c.(2638-2640)tCt>tTt p.S880F PCDH9_ENST00000377861.3_Missense_Mutation_p.S880F|PCDH9_ENST00000328454.5_Missense_Mutation_p.S880F|PCDH9_ENST00000456367.1_Missense_Mutation_p.S880F|PCDH9_ENST00000377865.2_Missense_Mutation_p.S880F NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 880 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GTTCAAAAGAGAGCTTTTGGG 0.453000 24 121 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197346713 197346713 + RNA SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:197346713T>A ENST00000418868.1 - 0 731 NR_003266.2 TATCAGGAGATCCAAGGCAAA 0.428000 7 20 0 0 1 0 0 OR56A4 120793 broad.mit.edu 37 11 6024367 6024367 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:6024367C>T ENST00000330728.4 - 1 57 c.12G>A c.(10-12)gtG>gtA p.V4V NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTTTAAAATCACTGTCATCA 0.333000 19 31 0 0 1 0 0 HCG17 414778 broad.mit.edu 37 6 30227467 30227467 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:30227467C>T ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA TGACCGAGACCTGGGCCGGTG 0.731000 5 18 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50918104 50918104 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:50918104G>A ENST00000440232.2 + 20 2474 c.2421G>A c.(2419-2421)aaG>aaA p.K807K POLD1_ENST00000599857.1_Silent_p.K807K|POLD1_ENST00000595904.1_Silent_p.K833K NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 807 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) TCAGCAAGAAGCGCTACGCGG 0.667000 DNA polymerases (catalytic subunits) OREG0025635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 28 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196794618 196794618 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:196794618G>A ENST00000320493.5 + 2 158 c.70G>A c.(70-72)Gat>Aat p.D24N CFHR1_ENST00000367424.3_Missense_Mutation_p.D24N|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000498248.1_3'UTR NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 24 Sushi 1. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 AACATTTTGTGATTTTCCAAA 0.279000 5 15 0 0 1 0 0 ATP6V1B2 526 broad.mit.edu 37 8 20075711 20075711 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:20075711C>T ENST00000276390.2 + 13 1354 c.1314C>T c.(1312-1314)gtC>gtT p.V438V NM_001693.3 NP_001684.2 P21281 VATB2_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 438 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(1)|kidney(2)|lung(5)|prostate(1) 9 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) TGAAAGCTGTCGTTGGAGAAG 0.443000 27 43 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140248703 140248703 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140248703G>A ENST00000398640.2 + 1 15 c.15G>A c.(13-15)caG>caA p.Q5Q PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGTTTTCAGAGAAGGGGAT 0.488000 20 50 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35560511 35560511 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:35560511C>T ENST00000455600.1 + 10 4443 c.3874C>T c.(3874-3876)Cct>Tct p.P1292S NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1292 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) TTCCAGGTTCCCTCGTGGTAG 0.652000 22 26 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156454 70156454 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:70156454C>T ENST00000335568.5 + 5 1237 c.1235C>T c.(1234-1236)gCt>gTt p.A412V UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 412 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AAGGGAGCAGCTGTTAGACTG 0.443000 45 16 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48626134 48626134 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:48626134C>T ENST00000328333.8 - 19 2635 c.2528G>A c.(2527-2529)cGa>cAa p.R843Q COL7A1_ENST00000454817.1_Missense_Mutation_p.R843Q NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 843 Fibronectin type-III 7.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGCAGTCACTCGCACTGAGTA 0.612000 20 34 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47511163 47511163 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:47511163C>T ENST00000285039.7 - 8 1170 c.871G>A c.(871-873)Gga>Aga p.G291R NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 291 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GTGTCTCCTCCCTGTGATGTA 0.522000 20 22 0 0 1 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805659 20805659 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:20805659G>A ENST00000577537.1 + 0 843 RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA TCCCATGTAGGAAAACGTGTC 0.582000 31 10 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435994 158435994 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:158435994C>T ENST00000289451.2 + 1 723 c.643C>T c.(643-645)Cta>Tta p.L215L NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) GCTACTTATCCTAGTCTCCTA 0.488000 34 40 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65393459 65393459 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:65393459G>A ENST00000519389.1 + 4 782 c.603G>A c.(601-603)ggG>ggA p.G201G HEPH_ENST00000441993.2_Silent_p.G150G|HEPH_ENST00000374727.3_Silent_p.G150G|HEPH_ENST00000343002.2_Silent_p.G147G|HEPH_ENST00000419594.1_Silent_p.G150G|HEPH_ENST00000336279.5_5'UTR Q9BQS7 HEPH_HUMAN hephaestin 147 Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GCTCCTCTGGGCCACTGAAAG 0.527000 8 13 0 0 1 0 0 ACTC1 70 broad.mit.edu 37 15 35085669 35085669 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:35085669G>A ENST00000290378.4 - 3 886 c.231C>T c.(229-231)atC>atT p.I77I RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 77 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) AGTTGGTGATGATACCATGCT 0.562000 19 44 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19046997 19046997 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:19046997G>A ENST00000421369.3 + 7 1085 c.e7-1 TMC7_ENST00000569532.1_Splice_Site|TMC7_ENST00000561963.1_Splice_Site|TMC7_ENST00000304381.5_Splice_Site NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TTTGGGGTCAGGTCGGTGGAA 0.433000 16 32 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848702 73848702 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:73848702C>T ENST00000523207.1 + 3 1700 c.1112C>T c.(1111-1113)tCa>tTa p.S371L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 371 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.S371L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ATCCCTGCATCATTTTGGTGG 0.433000 29 50 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72205785 72205785 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:72205785G>A ENST00000555818.1 + 22 5670 c.5322G>A c.(5320-5322)gaG>gaA p.E1774E SIPA1L1_ENST00000537413.1_Silent_p.E1227E|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Silent_p.E1753E|SIPA1L1_ENST00000358550.2_Silent_p.E1752E NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1774 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACCTGCGAGAGGACAACCTGA 0.537000 19 35 0 0 1 0 0 MPP1 4354 broad.mit.edu 37 X 154020553 154020553 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:154020553G>A ENST00000413259.3 - 3 412 c.20C>T c.(19-21)tCg>tTg p.S7L MPP1_ENST00000462825.1_Intron|MPP1_ENST00000369534.3_Missense_Mutation_p.S37L|MPP1_ENST00000393531.1_Missense_Mutation_p.S37L NM_001166462.1 NP_001159934.1 Q00013 EM55_HUMAN membrane protein, palmitoylated 1, 55kDa 37 regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CAATGGATGCGATACAGCCTG 0.532000 28 28 0 0 1 0 0 CBX4 8535 broad.mit.edu 37 17 77808599 77808599 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:77808599G>A ENST00000269397.4 - 5 1019 c.842C>T c.(841-843)tCc>tTc p.S281F NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 281 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CACCTCGCCGGACTTGATCTT 0.582000 OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 103 92 0 0 1 0 0 TRIM5 85363 broad.mit.edu 37 11 5686212 5686212 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:5686212G>A ENST00000305836.5 - 8 1611 c.1309C>T c.(1309-1311)Cgt>Tgt p.R437C TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Missense_Mutation_p.R437C|TRIM5_ENST00000380027.1_Intron Q9C035 TRIM5_HUMAN tripartite motif containing 5 437 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) ACTCCAACACGATCAGGACAA 0.398000 14 21 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736261 12736261 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:12736261G>A ENST00000380682.1 + 16 3822 c.3316G>A c.(3316-3318)Gga>Aga p.G1106R NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1106 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TGAAAAAAGTGGATTAGAAGC 0.502000 49 83 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107802372 107802372 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:107802372C>T ENST00000328300.6 + 3 464 c.220C>T c.(220-222)Cgg>Tgg p.R74W COL4A5_ENST00000361603.2_Missense_Mutation_p.R74W NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 74 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.R74W(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TCCGGGGCCTCGGGGACAAAA 0.463000 Alport syndrome with Diffuse Leiomyomatosis 16 33 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171227252 171227252 + Missense_Mutation SNP G G A rs138644882 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:171227252G>A ENST00000354841.4 + 1 157 c.26G>A c.(25-27)gGa>gAa p.G9E FMO1_ENST00000402921.2_Missense_Mutation_p.G9E|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.G9E Q01740 FMO1_HUMAN flavin containing monooxygenase 1 9 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCCATTGTGGGAGCTGGGGTC 0.572000 13 41 0 0 1 0 0 GABPA 2551 broad.mit.edu 37 21 27141472 27141472 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr21:27141472C>T ENST00000354828.3 + 10 1821 c.1294C>T c.(1294-1296)Cat>Tat p.H432Y GABPA_ENST00000400075.3_Missense_Mutation_p.H432Y NM_001197297.1 NP_001184226.1 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha subunit 60kDa 432 positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding p.H432N(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 GATGCAGCTCCATGGAATTGC 0.473000 21 10 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99537975 99537975 + Silent SNP G G A rs62637599 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:99537975G>A ENST00000376460.1 - 20 2327 c.2247C>T c.(2245-2247)gtC>gtT p.V749V DOCK9_ENST00000339416.2_Silent_p.V750V|DOCK9_ENST00000448493.2_Silent_p.V761V|DOCK9_ENST00000442173.1_Silent_p.V749V NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 750 DHR-1. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGGTTTCAACGACATCCCTCT 0.403000 36 21 0 0 1 0 0 SLC6A14 11254 broad.mit.edu 37 X 115582805 115582805 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:115582805G>A ENST00000371900.4 + 8 1217 c.1129G>A c.(1129-1131)Gga>Aga p.G377R NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 377 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) CCATATATCTGGAAAGGAAGT 0.328000 24 35 0 0 1 0 0 CDK18 5129 broad.mit.edu 37 1 205499447 205499447 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:205499447C>T ENST00000360066.2 + 14 1583 c.1282C>T c.(1282-1284)Ctg>Ttg p.L428L CDK18_ENST00000429964.2_Silent_p.L428L|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.L458L NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 426 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 CTTCCGGTCTCTGGGAGAGCG 0.607000 24 44 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19452009 19452009 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:19452009C>T ENST00000396229.2 + 3 1398 c.649C>T c.(649-651)Cca>Tca p.P217S TMC5_ENST00000541464.1_Missense_Mutation_p.P217S|TMC5_ENST00000381414.4_Missense_Mutation_p.P217S|TMC5_ENST00000542583.2_Missense_Mutation_p.P217S NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 217 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ACCTAACTCTCCACCCTTTTT 0.453000 15 31 0 0 1 0 0 TLR6 10333 broad.mit.edu 37 4 38830454 38830454 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:38830454T>C ENST00000436693.2 - 2 760 c.641A>G c.(640-642)aAc>aGc p.N214S TLR6_ENST00000381950.1_Missense_Mutation_p.N214S NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 214 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AACTGATATGTTCACTTGGAT 0.303000 11 24 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168212946 168212946 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:168212946C>T ENST00000519560.1 - 12 1536 c.1117G>A c.(1117-1119)Gga>Aga p.G373R SLIT3_ENST00000332966.8_Missense_Mutation_p.G373R|SLIT3_ENST00000404867.3_Missense_Mutation_p.G373R NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 373 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCAAACAGTCCCTTGACAATC 0.512000 9 26 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143094251 143094251 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:143094251C>T ENST00000367603.2 - 5 2367 c.1625G>A c.(1624-1626)aGa>aAa p.R542K HIVEP2_ENST00000367604.1_Missense_Mutation_p.R542K|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R542K NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 542 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGAGTTGCTTCTAATAAGGGG 0.438000 20 10 0 0 1 0 0 MAP3K14 9020 broad.mit.edu 37 17 43351890 43351890 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:43351890G>A ENST00000344686.2 - 0 1466 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TCCATACAAAGGGACAATTCT 0.547000 12 22 0 0 1 0 0 MRGPRE 116534 broad.mit.edu 37 11 3249787 3249787 + Silent SNP G G C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:3249787G>C ENST00000389832.5 - 2 549 c.243C>G c.(241-243)gtC>gtG p.V81V AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.V80V Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 80 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) GCAAGTCGGGGACGATGGCCA 0.617000 35 42 0 0 1 0 0 IPO11 51194 broad.mit.edu 37 5 61811238 61811238 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:61811238G>A ENST00000325324.6 + 20 1975 c.1806G>A c.(1804-1806)ttG>ttA p.L602L IPO11_ENST00000409296.3_Silent_p.L642L|KIF2A_ENST00000509663.2_3'UTR NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 602 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) TGGGATGTTTGGTACAATATT 0.343000 20 35 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298807 125298807 + Silent SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:125298807G>T ENST00000538699.1 - 2 1181 c.1101C>A c.(1099-1101)acC>acA p.T367T DCAF12L2_ENST00000360028.2_Silent_p.T367T NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 367 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 AACCATGGCCGGTGCCCACAG 0.657000 30 42 2.65835e-16 2.71132e-16 1 1 0 SCMH1 22955 broad.mit.edu 37 1 41579128 41579128 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:41579128G>A ENST00000402904.2 - 8 910 c.542C>T c.(541-543)cCt>cTt p.P181L SCMH1_ENST00000361705.3_Missense_Mutation_p.P134L|SCMH1_ENST00000337495.5_Missense_Mutation_p.P191L|SCMH1_ENST00000397174.2_Missense_Mutation_p.P161L|SCMH1_ENST00000372595.1_Missense_Mutation_p.P120L|SCMH1_ENST00000326197.7_Missense_Mutation_p.P181L|SCMH1_ENST00000361191.5_Missense_Mutation_p.P120L|SCMH1_ENST00000397171.2_Missense_Mutation_p.P120L|SCMH1_ENST00000372597.1_Missense_Mutation_p.P134L|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372596.1_Missense_Mutation_p.P120L NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 181 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) AATGAAATGAGGGTTCTTCCT 0.512000 15 18 0 0 1 0 0 GFPT2 9945 broad.mit.edu 37 5 179757755 179757755 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:179757755C>T ENST00000253778.8 - 6 648 c.479G>A c.(478-480)aGa>aAa p.R160K NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 160 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) CTCAGTTTCTCTGTTGTCGAA 0.428000 10 22 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589270 140589270 + Missense_Mutation SNP T T G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140589270T>G ENST00000239450.2 + 1 980 c.791T>G c.(790-792)gTc>gGc p.V264G PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 264 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTGTGACCGTCTCAGCCTGG 0.423000 47 52 0 0 1 0 0 MTMR10 54893 broad.mit.edu 37 15 31239361 31239361 + Missense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:31239361G>T ENST00000435680.1 - 14 1617 c.1520C>A c.(1519-1521)tCc>tAc p.S507Y MTMR10_ENST00000314404.8_Missense_Mutation_p.S259Y|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000563714.1_Missense_Mutation_p.S425Y NM_017762.2 NP_060232.2 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 507 Myotubularin phosphatase. phosphatase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) CTGGTGAGGGGAGTTGAACAG 0.468000 26 66 1.7881e-09 1.80845e-09 1 1 0 GZMK 3003 broad.mit.edu 37 5 54329613 54329613 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:54329613G>A ENST00000231009.2 + 5 724 c.654G>A c.(652-654)ttG>ttA p.L218L CTD-2313F11.1_ENST00000595218.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 218 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) GGGGCCCCTTGATCTGTAAAG 0.458000 9 26 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150945466 150945466 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:150945466G>A ENST00000261800.5 - 1 3039 c.3027C>T c.(3025-3027)gcC>gcT p.A1009A NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1009 Cadherin 8. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGTCCTGCGGGCTAGGGGCC 0.602000 13 13 0 0 1 0 0 RTDR1 27156 broad.mit.edu 37 22 23401670 23401670 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:23401670G>A ENST00000216036.4 - 7 1213 c.1017C>T c.(1015-1017)atC>atT p.I339I NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 339 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) CACTGATGGCGATCCGGGCTG 0.547000 38 42 0 0 1 0 0 NR4A3 8013 broad.mit.edu 37 9 102590756 102590756 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:102590756C>T ENST00000330847.1 + 2 509 c.465C>T c.(463-465)acC>acT p.T155T NR4A3_ENST00000395097.2_Silent_p.T144T|NR4A3_ENST00000338488.4_Silent_p.T144T Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 144 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) CCACCCCCACCACGCCGGCCT 0.706000 T EWSR1 extraskeletal myxoid chondrosarcoma 34 6 0 0 1 0 0 PDLIM4 8572 broad.mit.edu 37 5 131607493 131607493 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:131607493C>T ENST00000253754.3 + 6 744 c.680C>T c.(679-681)cCc>cTc p.P227L PDLIM4_ENST00000484620.1_3'UTR|PDLIM4_ENST00000379018.3_Intron|P4HA2_ENST00000471826.1_Intron NM_001131027.1|NM_003687.3 NP_001124499.1|NP_003678.2 P50479 PDLI4_HUMAN PDZ and LIM domain 4 227 protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGGGATTGGCCCGGGCCTGGC 0.701000 14 19 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48604768 48604768 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:48604768C>T ENST00000342988.3 + 12 2128 c.1590C>T c.(1588-1590)caC>caT p.H530H SMAD4_ENST00000588745.1_Silent_p.H434H|SMAD4_ENST00000398417.2_Silent_p.H530H|SMAD4_ENST00000586253.1_3'UTR NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 530 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TTCACTTACACCGGGCCCTCC 0.483000 8 30 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322751 55322751 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:55322751G>A ENST00000314644.2 + 1 969 c.969G>A c.(967-969)atG>atA p.M323I NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M323I(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TTGACAAAATGGCGGCAATAT 0.383000 HNSCC(20;0.049) 29 58 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459537 107459537 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:107459537G>A ENST00000409382.3 - 2 1507 c.897C>T c.(895-897)gtC>gtT p.V299V ST6GAL2_ENST00000361686.4_Silent_p.V299V|ST6GAL2_ENST00000409087.3_Silent_p.V299V NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 299 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CTGCAGACATGACGACAGCGC 0.687000 3 2 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7640469 7640469 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:7640469G>A ENST00000359156.4 - 7 1837 c.1635C>T c.(1633-1635)ttC>ttT p.F545F CD163_ENST00000541972.1_Silent_p.F533F|CD163_ENST00000396620.3_Silent_p.F545F|CD163_ENST00000432237.2_Silent_p.F545F NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 545 SRCR 5. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CCTCACACTGGAATTCTTCAG 0.532000 12 31 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172165602 172165602 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:172165602G>A ENST00000241256.2 - 1 644 c.602C>T c.(601-603)aCc>aTc p.T201I GHSR_ENST00000427970.1_Missense_Mutation_p.T201I NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 201 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CGCAAACTCGGTGGGGCGGCA 0.627000 8 23 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226924376 226924376 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:226924376G>A ENST00000429204.1 - 2 1111 c.784C>T c.(784-786)Cct>Tct p.P262S ITPKB_ENST00000272117.3_Missense_Mutation_p.P262S|ITPKB_ENST00000366784.1_Missense_Mutation_p.P262S NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 262 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GGACTGGCAGGGATACCCTTC 0.597000 12 35 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578713 9578713 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:9578713G>A ENST00000301480.4 - 10 1123 c.910C>T c.(910-912)Cag>Tag p.Q304* NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 AGGTATGACTGATAAATGAAG 0.413000 19 35 0 0 1 0 0 SLC52A3 113278 broad.mit.edu 37 20 744300 744300 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:744300G>A ENST00000381944.3 - 3 1156 c.915C>T c.(913-915)acC>acT p.T305T SLC52A3_ENST00000217254.7_Silent_p.T305T|SLC52A3_ENST00000473664.1_Intron Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 305 sensory perception of sound integral to plasma membrane riboflavin transporter activity AGGCCACCAGGGTATAGATGA 0.642000 23 38 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423383 26423383 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:26423383C>T ENST00000335473.7 + 43 7693 c.7443C>T c.(7441-7443)aaC>aaT p.N2481N MYO18B_ENST00000536101.1_Silent_p.N2481N|MYO18B_ENST00000407587.2_Silent_p.N2482N NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2481 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AAGAGGCTAACCGTTCCTTTC 0.567000 11 23 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116075333 116075333 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:116075333C>T ENST00000369271.3 - 6 898 c.598G>A c.(598-600)Gac>Aac p.D200N AFAP1L2_ENST00000304129.4_Missense_Mutation_p.D200N|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.D253N NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 200 PH 1. inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) AGCCTGTTGTCCTTGATGACA 0.627000 9 7 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75896636 75896636 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:75896636G>A ENST00000274364.6 + 11 1368 c.e11-1 IQGAP2_ENST00000379730.3_Splice_Site NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TTTTCCAACAGAACTACTTGG 0.433000 16 19 0 0 1 0 0 CLU 1191 broad.mit.edu 37 8 27463918 27463918 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:27463918A>T ENST00000316403.10 - 4 775 c.370T>A c.(370-372)Ttc>Atc p.F124I CLU_ENST00000560366.1_Missense_Mutation_p.F176I|CLU_ENST00000405140.3_Missense_Mutation_p.F124I|CLU_ENST00000546343.1_Missense_Mutation_p.F135I|CLU_ENST00000523500.1_Missense_Mutation_p.F124I P10909 CLUS_HUMAN clusterin 124 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) CGTGCGTAGAACTTCATGCAG 0.577000 43 57 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107845337 107845337 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:107845337C>T ENST00000285311.3 - 4 1259 c.554G>A c.(553-555)cGa>cAa p.R185Q DKK2_ENST00000510463.1_Missense_Mutation_p.R139Q|DKK2_ENST00000513208.1_Missense_Mutation_p.R85Q NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 185 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GTCTGATGATCGTAGGCAGGG 0.453000 10 11 0 0 1 0 0 RP11-80F22.9 0 broad.mit.edu 37 16 34713679 34713679 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:34713679C>T ENST00000569028.2 - 0 289 AGGAGGGGGTCTCGGCTTTTT 0.502000 5 3 0 0 1 0 0 OXA1L 5018 broad.mit.edu 37 14 23235902 23235902 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:23235902C>T ENST00000285848.5 + 1 172 c.172C>T c.(172-174)Ccg>Tcg p.P58S OXA1L_ENST00000604262.1_5'UTR NM_005015.3 NP_005006.3 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 0 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding p.P58S(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) AAGTCCTCTTCCGGGCAAAAT 0.607000 43 66 0 0 1 0 0 IVL 3713 broad.mit.edu 37 1 152882675 152882675 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:152882675G>A ENST00000368764.3 + 2 466 c.402G>A c.(400-402)ctG>ctA p.L134L IVL_ENST00000392667.2_5'UTR P07476 INVO_HUMAN involucrin 134 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACCAGCAACTGGATCAAGAGC 0.498000 13 11 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150914097 150914097 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:150914097G>A ENST00000261800.5 - 12 9312 c.9300C>T c.(9298-9300)acC>acT p.T3100T NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3100 Cadherin 27. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCACATGGAGGGTGATGTCTG 0.577000 18 25 0 0 1 0 0 FEN1 2237 broad.mit.edu 37 11 61563658 61563658 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:61563658C>T ENST00000305885.2 + 2 1238 c.825C>T c.(823-825)ctC>ctT p.L275L FADS2_ENST00000574708.1_Intron NM_004111.5 NP_004102.1 P39748 FEN1_HUMAN flap structure-specific endonuclease 1 275 base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection mitochondrion|nucleolus|nucleoplasm 5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 AAAATTGGCTCCACAAGGAGG 0.562000 Editing and processing nucleases 13 22 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47644047 47644047 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:47644047C>T ENST00000273857.4 - 16 2087 c.2088G>A c.(2086-2088)gtG>gtA p.V696V CORIN_ENST00000502252.1_Silent_p.V629V|CORIN_ENST00000508498.1_Silent_p.V557V|CORIN_ENST00000505909.1_Silent_p.V659V NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 696 SRCR. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 AAGAGGAGTTCACATTTATAG 0.448000 16 16 0 0 1 0 0 ATCAY 85300 broad.mit.edu 37 19 3905537 3905537 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:3905537C>T ENST00000450849.2 + 4 709 c.242C>T c.(241-243)tCc>tTc p.S81F ATCAY_ENST00000301260.6_Missense_Mutation_p.S81F|ATCAY_ENST00000398448.3_Missense_Mutation_p.S87F|ATCAY_ENST00000600960.1_Missense_Mutation_p.S81F NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 81 transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) TCCCTGCTGTCCGATGACTTC 0.542000 13 39 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559773 140559773 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140559773G>A ENST00000239444.2 + 1 2403 c.2158G>A c.(2158-2160)Gcg>Acg p.A720T NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 720 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGGAGCAGGGCGGCCTCGGT 0.637000 50 70 0 0 1 0 0 POLG2 11232 broad.mit.edu 37 17 62481960 62481960 + Missense_Mutation SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:62481960A>G ENST00000539111.2 - 5 1062 c.995T>C c.(994-996)gTt>gCt p.V332A POLG2_ENST00000582501.1_5'UTR NM_007215.3 NP_009146.2 Q9UHN1 DPOG2_HUMAN polymerase (DNA directed), gamma 2, accessory subunit 332 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1) 15 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) AACACAAGGAACCACATTTTT 0.408000 12 28 0 0 1 0 0 MARK3 4140 broad.mit.edu 37 14 103932349 103932349 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:103932349C>T ENST00000429436.2 + 9 1328 c.818C>T c.(817-819)cCc>cTc p.P273L MARK3_ENST00000553942.1_Missense_Mutation_p.P273L|MARK3_ENST00000416682.2_Missense_Mutation_p.P296L|MARK3_ENST00000335102.5_Missense_Mutation_p.P296L|MARK3_ENST00000303622.9_Missense_Mutation_p.P273L|MARK3_ENST00000216288.7_Missense_Mutation_p.P273L|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000440884.3_Missense_Mutation_p.P194L NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 273 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) TACAGAATTCCCTTCTACATG 0.398000 17 29 0 0 1 0 0 CAPZB 832 broad.mit.edu 37 1 19683223 19683223 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:19683223G>A ENST00000264203.3 - 7 1065 c.572C>T c.(571-573)gCc>gTc p.A191V CAPZB_ENST00000375144.1_Missense_Mutation_p.A153V|CAPZB_ENST00000433834.1_Missense_Mutation_p.A194V|CAPZB_ENST00000264202.6_Missense_Mutation_p.A165V|CAPZB_ENST00000401084.2_Missense_Mutation_p.A165V|CAPZB_ENST00000375142.1_Missense_Mutation_p.A165V P47756 CAPZB_HUMAN capping protein (actin filament) muscle Z-line, beta 165 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement cytosol|F-actin capping protein complex|WASH complex actin binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) CTTGTAATGGGCGGTGCGACC 0.552000 76 137 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137734050 137734050 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:137734050G>A ENST00000314358.5 + 10 3215 c.3015G>A c.(3013-3015)gaG>gaA p.E1005E KDM3B_ENST00000542866.1_Silent_p.E37E|KDM3B_ENST00000394866.1_Silent_p.E661E NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1005 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TAATGTCTGAGAAGGAGGCCA 0.478000 18 29 0 0 1 0 0 XAB2 56949 broad.mit.edu 37 19 7689290 7689290 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:7689290G>A ENST00000358368.4 - 7 901 c.864C>T c.(862-864)acC>acT p.T288T XAB2_ENST00000534844.1_Silent_p.T285T NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 288 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 AGTCCCGCACGGTCATCACTG 0.642000 Direct reversal of damage;Nucleotide excision repair (NER) 19 37 0 0 1 0 0 LIPF 8513 broad.mit.edu 37 10 90427359 90427359 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:90427359G>A ENST00000394375.3 + 4 282 c.169G>A c.(169-171)Gaa>Aaa p.E57K LIPF_ENST00000355843.2_Missense_Mutation_p.E47K|LIPF_ENST00000238983.4_Missense_Mutation_p.E47K NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 47 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) ATACCCAAATGAAGAATATGA 0.294000 20 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9086692 9086692 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:9086692G>A ENST00000397910.4 - 1 5326 c.5123C>T c.(5122-5124)aCt>aTt p.T1708I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1708 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 TCCTTCAGTAGTTGACTCAGA 0.488000 29 54 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44815246 44815246 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:44815246G>A ENST00000372262.3 - 9 2044 c.1644C>T c.(1642-1644)ttC>ttT p.F548F CDH22_ENST00000537909.1_Silent_p.F548F NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 548 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CAAGCAGAGAGAAATGAGGGT 0.577000 20 29 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64597253 64597253 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:64597253G>A ENST00000342711.5 - 30 3656 c.3657C>T c.(3655-3657)atC>atT p.I1219I NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1219 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 GCAGCTCACGGATGCGGCGCT 0.711000 7 18 0 0 1 0 0 PRDM11 56981 broad.mit.edu 37 11 45246334 45246334 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:45246334C>T ENST00000263765.4 + 8 1660 c.1411C>T c.(1411-1413)Cct>Tct p.P471S PRDM11_ENST00000424263.2_Missense_Mutation_p.P437S|PRDM11_ENST00000530656.1_Missense_Mutation_p.P471S|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA Q9NQV5 PRD11_HUMAN PR domain containing 11 471 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 TGGGAAACTTCCTGAGCCCCC 0.512000 52 70 0 0 1 0 0 GRN 2896 broad.mit.edu 37 17 42426860 42426860 + Missense_Mutation SNP G G C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:42426860G>C ENST00000053867.3 + 3 267 c.205G>C c.(205-207)Gcc>Ccc p.A69P GRN_ENST00000589265.1_Missense_Mutation_p.A69P NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 69 A -> T. signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CCACTGCTCTGCCGGCCACTC 0.577000 41 43 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70493873 70493873 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:70493873G>A ENST00000310961.5 + 19 2133 c.1715G>A c.(1714-1716)cGa>cAa p.R572Q LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.R567Q Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 567 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 AACCTAAAACGATATCCAACT 0.323000 20 31 0 0 1 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35510183 35510183 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:35510183C>T ENST00000599564.1 + 13 1634 c.1563C>T c.(1561-1563)ggC>ggT p.G521G CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Silent_p.G427G|GRAMD1A_ENST00000504615.2_Silent_p.G200G|GRAMD1A_ENST00000317991.5_Silent_p.G434G Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 434 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ACCCACTGGGCCCCAAGAGCG 0.682000 23 26 0 0 1 0 0 CDO1 1036 broad.mit.edu 37 5 115151998 115151998 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:115151998C>T ENST00000250535.4 - 1 653 c.97G>A c.(97-99)Gtg>Atg p.V33M CDO1_ENST00000502631.1_Intron NM_001801.2 NP_001792.2 Q16878 CDO1_HUMAN cysteine dioxygenase type 1 33 inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5) 11 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) ATGGCCTGCACCTCCTCTACA 0.592000 70 76 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109697146 109697146 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:109697146G>A ENST00000465301.2 + 3 3547 c.3301G>A c.(3301-3303)Gac>Aac p.D1101N RGAG1_ENST00000540313.1_Missense_Mutation_p.D1101N NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1101 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 CAAAGCCACAGACTCTGGAGA 0.532000 46 84 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84520255 84520255 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:84520255G>A ENST00000360700.4 + 6 1796 c.910G>A c.(910-912)Gat>Aat p.D304N ZNF711_ENST00000542798.1_Missense_Mutation_p.D100N|ZNF711_ENST00000276123.3_Missense_Mutation_p.D304N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D282N|ZNF711_ENST00000373165.3_Missense_Mutation_p.D304N Q9Y462 ZN711_HUMAN zinc finger protein 711 304 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 AGAAGAAGATGATATCAGTAA 0.403000 21 21 0 0 1 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186946727 186946727 + Silent SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:186946727A>G ENST00000367466.3 + 16 1919 c.1767A>G c.(1765-1767)gaA>gaG p.E589E PLA2G4A_ENST00000442353.2_Silent_p.E529E NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 589 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TCCCATAGGAACTTCTACTTG 0.403000 9 20 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216052118 216052118 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:216052118C>T ENST00000366943.2 - 42 8932 c.8546G>A c.(8545-8547)gGa>gAa p.G2849E USH2A_ENST00000307340.3_Missense_Mutation_p.G2849E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2849 Fibronectin type-III 15. 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) CAAATTAGGTCCATTTGGCTT 0.413000 HNSCC(13;0.011) 7 12 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233398649 233398649 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:233398649G>A ENST00000258385.3 + 10 1088 c.1056G>A c.(1054-1056)ctG>ctA p.L352L CHRND_ENST00000543200.1_Silent_p.L337L|CHRND_ENST00000457943.2_Silent_p.L158L NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 352 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) AGCTCTTCCTGGAGACCCTGC 0.592000 32 14 0 0 1 0 0 OR4M2 390538 broad.mit.edu 37 15 22368704 22368704 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:22368704C>T ENST00000332663.2 + 1 227 c.129C>T c.(127-129)atC>atT p.I43I RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CAGGAAATATCCTTATCATTT 0.408000 66 181 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8784547 8784547 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:8784547C>T ENST00000359865.3 + 6 1579 c.1437C>T c.(1435-1437)ctC>ctT p.L479L SOGA2_ENST00000306329.11_Silent_p.L839L|SOGA2_ENST00000517570.1_Silent_p.L479L|SOGA2_ENST00000400050.3_Silent_p.L479L|SOGA2_ENST00000306285.7_5'UTR NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 830 ACAGCTTCCTCCATGATGCGG 0.682000 57 111 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179616322 179616322 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:179616322T>C ENST00000360870.5 - 46 11027 c.10805A>G c.(10804-10806)cAa>cGa p.Q3602R TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3597 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) TTTCTCATCTTGCCCTTTTTG 0.393000 43 8 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48616807 48616807 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:48616807C>T ENST00000328333.8 - 60 5409 c.5302G>A c.(5302-5304)Gaa>Aaa p.E1768K COL7A1_ENST00000454817.1_Missense_Mutation_p.E1768K NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1768 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTCACCTTTTCTCCTGCTGGG 0.572000 20 25 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189612233 189612233 + Missense_Mutation SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:189612233A>G ENST00000264731.3 + 14 2074 c.1985A>G c.(1984-1986)aAc>aGc p.N662S TP63_ENST00000449992.1_Missense_Mutation_p.N483S|TP63_ENST00000354600.5_Missense_Mutation_p.N568S|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000456148.1_Missense_Mutation_p.N564S|TP63_ENST00000382063.4_Missense_Mutation_p.N577S|TP63_ENST00000440651.2_Missense_Mutation_p.N658S NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 662 Transactivation inhibition. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) AATGACTTCAACTTTGACATG 0.552000 HNSCC(45;0.13) 20 41 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230377581 230377581 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:230377581C>T ENST00000341772.4 - 6 1199 c.1065G>A c.(1063-1065)agG>agA p.R355R NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 355 EGF-like 4. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) GGCAAGGTTTCCTCTGGCAAG 0.438000 24 11 0 0 1 0 0 MIIP 60672 broad.mit.edu 37 1 12082318 12082318 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:12082318C>T ENST00000235332.4 + 3 450 c.281C>T c.(280-282)tCt>tTt p.S94F MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Missense_Mutation_p.S94F NM_021933.3 NP_068752.2 Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein 94 autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 GGGGTGGCCTCTCTCCCACCT 0.692000 39 47 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6243377 6243377 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:6243377C>T ENST00000400104.3 - 7 576 c.376G>A c.(376-378)Gat>Aat p.D126N L3MBTL4_ENST00000317931.7_Missense_Mutation_p.D126N|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.D126N|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.D126N Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 126 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) GTCCAAAAATCATAGCAACTT 0.388000 10 31 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167272452 167272452 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:167272452C>T ENST00000453925.2 - 6 979 c.945G>A c.(943-945)tgG>tgA p.W315* WDR49_ENST00000308378.3_Intron|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Intron Q8IV35 WDR49_HUMAN WD repeat domain 49 255 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 CTATAGTTTTCCATGAGGCAT 0.323000 18 23 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157548298 157548298 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:157548298C>T ENST00000271532.1 - 10 1530 c.1395G>A c.(1393-1395)gaG>gaA p.E465E FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 465 integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TAGTCTGGATCTCAGAGTATA 0.408000 13 22 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46847179 46847179 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:46847179G>A ENST00000393382.3 - 14 2462 c.2321C>T c.(2320-2322)tCc>tTc p.S774F TTLL6_ENST00000433608.2_Missense_Mutation_p.S467F NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 726 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GAGTAGCTCGGATATCAAATG 0.473000 15 44 0 0 1 0 0 LILRB2 10288 broad.mit.edu 37 19 54780263 54780263 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:54780263C>T ENST00000391748.1 - 11 1655 c.1528G>A c.(1528-1530)Gag>Aag p.E510K LILRB2_ENST00000434421.1_Missense_Mutation_p.E395K|LILRB2_ENST00000391746.1_Intron|LILRB2_ENST00000314446.5_Missense_Mutation_p.E510K|LILRB2_ENST00000391749.4_Missense_Mutation_p.E511K NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 511 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCTGTGGGCTCTGGCCCCACA 0.617000 14 36 0 0 1 0 0 ADAM11 4185 broad.mit.edu 37 17 42850638 42850638 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:42850638G>A ENST00000200557.6 + 11 1004 c.835G>A c.(835-837)Gag>Aag p.E279K ADAM11_ENST00000535346.1_Missense_Mutation_p.E79K NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 279 Peptidase M12B. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) GATATACAAGGAGCAGCTCAA 0.612000 36 48 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538195 55538195 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:55538195G>A ENST00000220676.1 + 4 1901 c.1753G>A c.(1753-1755)Gta>Ata p.V585I NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 585 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGATTGTGTGGTATTGGACAA 0.343000 21 34 0 0 1 0 0 CXorf58 254158 broad.mit.edu 37 X 23934380 23934380 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:23934380C>T ENST00000379211.3 + 5 907 c.358C>T c.(358-360)Ctt>Ttt p.L120F NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 120 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 TAAAATTTTTCTTCATACTGA 0.323000 7 17 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65246585 65246585 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:65246585G>A ENST00000389722.3 - 20 4384 c.4331C>T c.(4330-4332)tCa>tTa p.S1444L SPTB_ENST00000556626.1_Missense_Mutation_p.S1444L|SPTB_ENST00000389720.3_Missense_Mutation_p.S1444L|SPTB_ENST00000542895.1_Missense_Mutation_p.S1444L|SPTB_ENST00000389721.5_Missense_Mutation_p.S1444L NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1444 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTCTCCCATTGAAGGCACCTG 0.577000 58 85 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140481403 140481403 + Missense_Mutation SNP C C T rs121913358 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:140481403C>T ENST00000288602.6 - 11 1465 c.1405G>A c.(1405-1407)Gga>Aga p.G469R NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 469 Protein kinase. G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G469R(6)|p.G469S(5) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TAGACTGTTCCAAATGATCCA 0.373000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 24 46 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 430503 430503 + Missense_Mutation SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:430503T>A ENST00000280886.6 - 15 1826 c.1739A>T c.(1738-1740)aAg>aTg p.K580M DIP2C_ENST00000381496.3_Missense_Mutation_p.K473M NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 580 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CTGGCAGACCTTCTGGATCCA 0.552000 28 16 0 0 1 0 0 PDXDC1 23042 broad.mit.edu 37 16 15098188 15098188 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:15098188C>T ENST00000396410.4 + 5 484 c.387C>T c.(385-387)ttC>ttT p.F129F PDXDC1_ENST00000569715.1_Silent_p.F102F|PDXDC1_ENST00000450288.2_Silent_p.F101F|PDXDC1_ENST00000325823.7_Silent_p.F114F|PDXDC1_ENST00000535621.2_Silent_p.F129F|PDXDC1_ENST00000563679.1_Silent_p.F147F|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000455313.2_Silent_p.F129F NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 129 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GCAGAATTTTCAGGTAAAGAC 0.388000 19 81 0 0 1 0 0 GRIK5 2901 broad.mit.edu 37 19 42566782 42566782 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:42566782G>A ENST00000262895.3 - 4 365 c.366C>T c.(364-366)ccC>ccT p.P122P GRIK5_ENST00000593562.1_Silent_p.P122P|GRIK5_ENST00000301218.4_Silent_p.P122P NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 122 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) GTGTCTCCTCGGGACCCACCT 0.622000 27 47 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9400510 9400510 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:9400510C>T ENST00000378501.2 + 22 2087 c.2072C>T c.(2071-2073)tCt>tTt p.S691F PLCB4_ENST00000334005.3_Missense_Mutation_p.S691F|PLCB4_ENST00000278655.4_Missense_Mutation_p.S691F|PLCB4_ENST00000378493.1_Missense_Mutation_p.S691F|PLCB4_ENST00000414679.2_Missense_Mutation_p.S703F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.S703F NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 691 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GACCCCTTCTCTGAAACTCCT 0.438000 31 53 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332338 70332338 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:70332338C>T ENST00000338508.4 - 32 4062 c.4063G>A c.(4063-4065)Gaa>Aaa p.E1355K SHANK2_ENST00000423696.2_Missense_Mutation_p.E975K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E759K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E758K Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 975 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCTTCGGTTTCGGAAACACCT 0.617000 15 25 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75248484 75248484 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:75248484C>T ENST00000325680.7 + 4 1862 c.1738C>T c.(1738-1740)Cct>Tct p.P580S YLPM1_ENST00000552421.1_Missense_Mutation_p.P580S|YLPM1_ENST00000238571.3_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) AGGGATGCCTCCTTCTCTCTC 0.612000 83 100 0 0 1 0 0 SNRPB 6628 broad.mit.edu 37 20 2446398 2446398 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:2446398C>T ENST00000381342.2 - 3 385 c.223G>A c.(223-225)Gag>Aag p.E75K SNRPB_ENST00000438552.2_Missense_Mutation_p.E75K|SNRPB_ENST00000339610.6_5'UTR NM_003091.3 NP_003082.1 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 75 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 ACCAGATTCTCCCCTCGCAGC 0.522000 28 27 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157959910 157959910 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:157959910G>A ENST00000389413.3 - 6 726 c.623C>T c.(622-624)tCc>tTc p.S208F PTPRN2_ENST00000389416.4_Missense_Mutation_p.S191F|PTPRN2_ENST00000409483.1_Missense_Mutation_p.S170F|PTPRN2_ENST00000404321.2_Missense_Mutation_p.S231F|PTPRN2_ENST00000389418.4_Missense_Mutation_p.S208F NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 208 S -> P (in dbSNP:rs1130495). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CTGGGTCCGGGACCCGGGAGG 0.632000 24 28 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6820818 6820818 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:6820818G>A ENST00000304076.2 + 2 404 c.310G>A c.(310-312)Gat>Aat p.D104N VAV1_ENST00000596764.1_Missense_Mutation_p.D104N|VAV1_ENST00000539284.1_Missense_Mutation_p.D39N|VAV1_ENST00000602142.1_Missense_Mutation_p.D104N|VAV1_ENST00000599806.1_Missense_Mutation_p.D49N NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 104 CH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CGATGTGCAGGATTTTGGCAA 0.498000 48 60 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51171752 51171752 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:51171752G>A ENST00000293441.1 - 22 3483 c.3465C>T c.(3463-3465)atC>atT p.I1155I SHANK1_ENST00000391814.1_Silent_p.I1163I|SHANK1_ENST00000391813.1_Silent_p.I542I|SHANK1_ENST00000359082.3_Silent_p.I1146I NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1155 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TGATGGTGGGGATGGGGATGG 0.771000 4 18 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242079977 242079977 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:242079977G>A ENST00000403638.3 - 3 479 c.388C>T c.(388-390)Cct>Tct p.P130S PASK_ENST00000539818.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000405260.1_Missense_Mutation_p.P130S|PASK_ENST00000358649.4_Missense_Mutation_p.P130S|PASK_ENST00000234040.4_Missense_Mutation_p.P130S NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 130 PAS 1. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GCCTTGTTAGGGTTGCACACA 0.572000 10 4 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10307703 10307703 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:10307703C>T ENST00000403437.2 - 22 2726 c.2632G>A c.(2632-2634)Gaa>Aaa p.E878K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 878 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ACCATTTTTTCCTCTAGCTCC 0.433000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 16 12 0 0 1 0 0 CHRM5 1133 broad.mit.edu 37 15 34355747 34355747 + Missense_Mutation SNP A A C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:34355747A>C ENST00000383263.5 + 3 1499 c.829A>C c.(829-831)Agc>Cgc p.S277R CHRM5_ENST00000557872.1_Missense_Mutation_p.S277R NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 277 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) CTCCCGCAGGAGCACCTCCAC 0.627000 28 41 0 0 1 0 0 OR4D6 219983 broad.mit.edu 37 11 59225273 59225273 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:59225273C>T ENST00000300127.2 + 1 863 c.840C>T c.(838-840)ccC>ccT p.P280P NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 TCATTACCCCCATGCTGAACC 0.502000 27 56 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240341310 240341310 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:240341310C>T ENST00000319653.9 + 3 2102 c.1872C>T c.(1870-1872)tcC>tcT p.S624S RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 624 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GAGTTCCATCCATGGGGCCAC 0.473000 11 22 0 0 1 0 0 ZNF391 346157 broad.mit.edu 37 6 27369096 27369096 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:27369096G>A ENST00000244576.4 + 3 1492 c.947G>A c.(946-948)cGa>cAa p.R316Q NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R316Q(2) endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 GGCTTCAGTCGAAGCTCATCC 0.463000 12 32 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80369246 80369246 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:80369246G>A ENST00000265080.4 + 5 929 c.862G>A c.(862-864)Gac>Aac p.D288N RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 288 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CAGCCACGACGACGTCAGCAG 0.453000 11 20 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55340152 55340152 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:55340152G>A ENST00000314634.3 + 1 549 c.549G>A c.(547-549)ttG>ttA p.L183L NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) AGCCCTTGTTGAAACAAGCCT 0.438000 28 46 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2591196 2591196 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:2591196G>A ENST00000358864.1 + 12 1560 c.1545G>A c.(1543-1545)ggG>ggA p.G515G TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 515 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCTTCCTGGGGAACCTCTACA 0.537000 15 21 0 0 1 0 0 GZMH 2999 broad.mit.edu 37 14 25078796 25078796 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:25078796C>T ENST00000216338.4 - 1 68 c.24G>A c.(22-24)ttG>ttA p.L8L RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Silent_p.L8L|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000382548.4_Silent_p.L8L NM_033423.3 NP_219491.1 P20718 GRAH_HUMAN granzyme H (cathepsin G-like 2, protein h-CCPX) 8 apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1) 12 GBM - Glioblastoma multiforme(265;0.0267) GAAGAAAGGCCAACAGGAGGA 0.527000 14 42 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46930300 46930300 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:46930300G>A ENST00000262738.3 - 1 2767 c.2768C>T c.(2767-2769)cCc>cTc p.P923L CELSR1_ENST00000395964.1_Missense_Mutation_p.P923L NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 923 Cadherin 7. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) ACGCCCATTGGGACCTGAGTC 0.627000 11 37 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117749276 117749276 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:117749276C>T ENST00000317775.6 - 3 1532 c.847G>A c.(847-849)Gag>Aag p.E283K NOS1_ENST00000344089.3_Missense_Mutation_p.E283K|NOS1_ENST00000338101.4_Missense_Mutation_p.E283K NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 283 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTTACCTGCTCCTTCTCTGAA 0.562000 7 5 0 0 1 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254048 30254048 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:30254048C>T ENST00000361644.2 + 5 744 c.7C>T c.(7-9)Cgg>Tgg p.R3W MAGEB3_ENST00000378986.1_Missense_Mutation_p.R3W NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 3 NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 CATCATGCCTCGGGGTCAGAA 0.562000 11 18 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28358283 28358283 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:28358283G>A ENST00000261609.7 - 92 14274 c.14166C>T c.(14164-14166)ttC>ttT p.F4722F NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4722 HECT. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGCCCCAGACGAAGCGAAGGA 0.627000 16 22 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41719783 41719783 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr21:41719783C>T ENST00000400454.1 - 6 1501 c.1024G>A c.(1024-1026)Gac>Aac p.D342N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 342 Ig-like C2-type 4. 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) AGTTCCTGGTCCTCAGTTCCT 0.493000 42 18 0 0 1 0 0 IGHV3-43 28426 broad.mit.edu 37 14 106926469 106926469 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:106926469C>T ENST00000434710.1 - 0 152 CCCCCAGACTCCACCAGCTGC 0.542000 19 91 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228548368 228548368 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:228548368C>T ENST00000284548.11 + 81 19849 c.19775C>T c.(19774-19776)aCc>aTc p.T6592I OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.T3711I Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0 Protein kinase 1. 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) GAGCTTTCCACCCAGACCGTC 0.637000 6 11 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240286642 240286642 + Silent SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:240286642T>C ENST00000319653.9 + 2 2009 c.1779T>C c.(1777-1779)ttT>ttC p.F593F NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 593 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CAGCTTCGTTTGATGTAAGTA 0.448000 15 23 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39907626 39907626 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:39907626C>T ENST00000425673.1 + 7 1055 c.730C>T c.(730-732)Cat>Tat p.H244Y PLEKHG2_ENST00000458508.2_Missense_Mutation_p.H185Y|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.H244Y|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.H244Y|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.H244Y Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 244 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCTCAAGTACCATCTGCTGCT 0.657000 20 37 0 0 1 0 0 ALDH2 217 broad.mit.edu 37 12 112241749 112241749 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:112241749G>A ENST00000261733.2 + 12 1554 c.1493G>A c.(1492-1494)gGg>gAg p.G498E ALDH2_ENST00000416293.3_Missense_Mutation_p.G451E NM_000690.3 NP_000681.2 P05091 ALDH2_HUMAN aldehyde dehydrogenase 2 family (mitochondrial) 498 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) GGCGAGTACGGGCTGCAGGCA 0.582000 T HMGA2 leiomyoma 3 8 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135738522 135738522 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:135738522C>T ENST00000375845.3 - 9 3819 c.3789G>A c.(3787-3789)ggG>ggA p.G1263G MAP3K19_ENST00000392918.3_Silent_p.G397G|MAP3K19_ENST00000392917.3_Silent_p.G395G|MAP3K19_ENST00000375844.3_Silent_p.G445G|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Silent_p.G124G|MAP3K19_ENST00000358371.4_Silent_p.G1150G NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 GTGGAGGCTTCCCTGTAGCCA 0.507000 14 9 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32280509 32280509 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:32280509G>A ENST00000360482.2 - 2 555 c.426C>T c.(424-426)ctC>ctT p.L142L SPOCD1_ENST00000373648.2_Silent_p.L142L|SPOCD1_ENST00000533231.1_Silent_p.L142L|SPOCD1_ENST00000257100.3_Intron NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 142 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CTCTCTCTGGGAGGCCAGCAG 0.592000 34 67 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27455915 27455915 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:27455915C>T ENST00000337929.3 + 6 1033 c.560C>T c.(559-561)cCc>cTc p.P187L IL21R_ENST00000395754.4_Missense_Mutation_p.P187L|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Missense_Mutation_p.P187L|IL21R_ENST00000564089.1_Missense_Mutation_p.P187L NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 187 Fibronectin type-III. natural killer cell activation integral to membrane interleukin-21 receptor activity p.P187L(2) breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 TCCCTCCTCCCCCTGGAGTTC 0.592000 T BCL6 NHL 22 25 0 0 1 0 0 SH2D1A 4068 broad.mit.edu 37 X 123505236 123505236 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:123505236C>T ENST00000371139.4 + 4 681 c.382C>T c.(382-384)Cca>Tca p.P128S STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000470647.1_3'UTR|SH2D1A_ENST00000360027.4_Missense_Mutation_p.P125S NM_001114937.2|NM_002351.4 NP_001108409.1|NP_002342.1 O60880 SH21A_HUMAN SH2 domain containing 1A 128 cell-cell signaling|cellular defense response cytoplasm SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 CCTGAAAGCCCCATGAAGAAA 0.269000 8 13 0 0 1 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45919679 45919679 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:45919679C>T ENST00000395629.2 + 2 445 c.115C>T c.(115-117)Ctc>Ttc p.L39F MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.L49F Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 49 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) GGATGAAGACCTCTCGGAGAT 0.557000 7 14 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371221 240371221 + Missense_Mutation SNP C C T rs71297737 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:240371221C>T ENST00000319653.9 + 5 3339 c.3109C>T c.(3109-3111)Ccc>Tcc p.P1037S NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1037 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1180S(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCCCCCACTTCCCGGAGCGGG 0.726000 12 23 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32799128 32799128 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:32799128G>A ENST00000380250.3 + 38 5471 c.4975G>A c.(4975-4977)Gac>Aac p.D1659N NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1659 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TGTACGAGAAGACTGGGCGCT 0.373000 20 62 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65502077 65502077 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:65502077G>A ENST00000261883.4 - 2 183 c.17C>T c.(16-18)gCc>gTc p.A6V NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 6 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GAACACCCAGGCCTTGGTCCC 0.557000 16 23 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49323652 49323652 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:49323652G>A ENST00000351842.4 - 15 1946 c.1938C>T c.(1936-1938)acC>acT p.T646T USP4_ENST00000265560.4_Silent_p.T693T NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 693 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) TCTTCTTTTGGGTGGTCTCAC 0.473000 21 30 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62328307 62328307 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:62328307C>T ENST00000318100.4 + 36 4921 c.4094C>T c.(4093-4095)cCg>cTg p.P1365L RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.P1365L|TNFRSF6B_ENST00000369996.1_Missense_Mutation_p.R63C Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 0 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GCGGCCGTGCCGCCGAGACAG 0.682000 8 9 0 0 1 0 0 MGLL 11343 broad.mit.edu 37 3 127439949 127439949 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:127439949C>T ENST00000434178.2 - 5 1323 c.427G>A c.(427-429)Gta>Ata p.V143I MGLL_ENST00000265052.5_Missense_Mutation_p.V153I|MGLL_ENST00000453507.2_Missense_Mutation_p.V153I|MGLL_ENST00000398104.1_Missense_Mutation_p.V143I|MGLL_ENST00000398101.3_Missense_Mutation_p.V117I Q99685 MGLL_HUMAN monoglyceride lipase 143 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 GAAATGAGTACCATGCCGGCG 0.567000 14 33 0 0 1 0 0 IGKV1D-8 28904 broad.mit.edu 37 2 90259782 90259782 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:90259782G>A ENST00000471857.1 + 0 190 GCATGGACATGAGGGTCCCCG 0.547000 42 20 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23775180 23775180 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:23775180G>A ENST00000354639.3 + 7 902 c.438G>A c.(436-438)ttG>ttA p.L146L STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.L146L|STK31_ENST00000433467.2_Silent_p.L169L|STK31_ENST00000355870.3_Silent_p.L169L NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 169 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGGGGAGCTTGATTTTTGAAA 0.388000 23 28 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4513345 4513345 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:4513345G>A ENST00000301286.3 - 3 584 c.585C>T c.(583-585)gtC>gtT p.V195V NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 195 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 CTGCCCCCATGACCCCAGTAG 0.597000 47 66 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21695476 21695476 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:21695476C>T ENST00000328843.6 + 29 5017 c.4986C>T c.(4984-4986)ttC>ttT p.F1662F DNAH11_ENST00000409508.3_Silent_p.F1657F Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1662 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CCAAACTTTTCGACAGCATTG 0.383000 Kartagener syndrome 7 16 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2222198 2222198 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:2222198C>T ENST00000398665.3 + 24 3066 c.3030C>T c.(3028-3030)ccC>ccT p.P1010P NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 1010 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCCAGTCCCCGGCTTGGTG 0.697000 16 44 0 0 1 0 0 CNBD1 168975 broad.mit.edu 37 8 88365919 88365919 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:88365919G>A ENST00000518476.1 + 10 1259 c.1208G>A c.(1207-1209)gGt>gAt p.G403D NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 403 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 GAGTCCTTTGGTGAGATTAGC 0.338000 8 13 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66436860 66436860 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:66436860G>A ENST00000341529.3 + 12 2291 c.2143G>A c.(2143-2145)Gag>Aag p.E715K CDH5_ENST00000539168.1_Missense_Mutation_p.E154K NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 715 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GAAGAAGGACGAGGCGGACCA 0.682000 8 17 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6265382 6265382 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:6265382G>A ENST00000379936.2 + 6 1586 c.1471G>A c.(1471-1473)Gag>Aag p.E491K NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 491 response to stimulus|sensory perception of smell cAMP binding 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) CGCCCTGCAGGAGGCCACAGA 0.557000 13 25 0 0 1 0 0 GIPR 2696 broad.mit.edu 37 19 46180604 46180604 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:46180604C>T ENST00000590918.1 + 9 916 c.817C>T c.(817-819)Ccc>Tcc p.P273S GIPR_ENST00000304207.8_Missense_Mutation_p.P237S|GIPR_ENST00000263281.3_Missense_Mutation_p.P273S NM_000164.2 NP_000155.1 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 273 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) TTTCGTCATTCCCTGGGTGAT 0.716000 4 13 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38820470 38820470 + Splice_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:38820470C>T ENST00000359357.3 + 38 5070 c.4815_splice c.e38-1 p.P1606_splice DNAH8_ENST00000449981.2_Splice_Site_p.P1823_splice|DNAH8_ENST00000441566.1_Splice_Site_p.P1606_splice dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGTCTTACAGCCGCATCTCCC 0.393000 13 31 0 0 1 0 0 GIPC3 126326 broad.mit.edu 37 19 3589521 3589521 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:3589521C>T ENST00000322315.5 + 4 718 c.673C>T c.(673-675)Cgt>Tgt p.R225C NM_133261.2 NP_573568.1 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 225 breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGCGGCTTCGTTCTGGGGG 0.612000 16 32 0 0 1 0 0 TNFRSF18 8784 broad.mit.edu 37 1 1140777 1140777 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:1140777G>A ENST00000379268.2 - 2 402 c.283C>T c.(283-285)Ccc>Tcc p.P95S TNFRSF18_ENST00000379265.5_Missense_Mutation_p.P95S|TNFRSF18_ENST00000328596.6_Missense_Mutation_p.P95S|TNFRSF18_ENST00000486728.1_Missense_Mutation_p.P23S NM_004195.2|NM_148902.1 NP_004186.1|NP_683700.1 Q9Y5U5 TNR18_HUMAN tumor necrosis factor receptor superfamily, member 18 95 anti-apoptosis|apoptosis extracellular region|integral to plasma membrane tumor necrosis factor receptor activity lung(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGGCCTGGGGGACAAGGGTGG 0.657000 11 9 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38462568 38462568 + Silent SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr21:38462568T>C ENST00000399017.2 + 6 3209 c.462T>C c.(460-462)atT>atC p.I154I TTC3_ENST00000540756.1_Intron|TTC3_ENST00000399010.1_Silent_p.I154I|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.I154I|TTC3_ENST00000354749.2_Silent_p.I154I NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 154 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TATTGAGAATTGGTTGTAAAA 0.358000 7 6 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127548 152127548 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:152127548C>T ENST00000316073.3 - 3 2091 c.2027G>A c.(2026-2028)gGg>gAg p.G676E NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 676 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CCAGTCTCTCCCTTTGTGACA 0.542000 51 67 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090714 91090714 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:91090714G>A ENST00000373094.1 + 1 1056 c.211G>A c.(211-213)Gat>Aat p.D71N PCDH11X_ENST00000298274.8_Missense_Mutation_p.D71N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D71N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D71N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D71N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D71N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D71N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D71N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D71N NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 71 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CAAGACCGGAGATGTGCCACT 0.463000 24 55 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54872617 54872617 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:54872617G>A ENST00000474759.1 + 16 1541 c.1493G>A c.(1492-1494)gGa>gAa p.G498E CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G498E|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G404E|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G498E NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 498 Cache. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) ATTCTTCTGGGAGTGGTTGGC 0.388000 31 46 0 0 1 0 0 DCP2 167227 broad.mit.edu 37 5 112337084 112337084 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:112337084C>T ENST00000389063.2 + 6 814 c.616C>T c.(616-618)Cct>Tct p.P206S DCP2_ENST00000543319.1_5'UTR|DCP2_ENST00000515408.1_Missense_Mutation_p.P206S NM_152624.5 NP_689837.2 Q8IU60 DCP2_HUMAN decapping mRNA 2 206 Nudix hydrolase. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) TGAGAAATTGCCTTGTCATAG 0.333000 15 36 0 0 1 0 0 TMLHE 55217 broad.mit.edu 37 X 154736692 154736692 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:154736692C>T ENST00000334398.3 - 6 1007 c.862G>A c.(862-864)Gaa>Aaa p.E288K TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.E288K NM_018196.3 NP_060666.1 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 288 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 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) Succinic acid(DB00139)|Vitamin C(DB00126) AGTTCAAATTCCTCAGGTGCC 0.408000 39 63 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63173899 63173899 + Missense_Mutation SNP C C T rs145263061 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:63173899C>T ENST00000449996.3 + 9 704 c.632C>T c.(631-633)cCg>cTg p.P211L RGS9_ENST00000443584.3_Missense_Mutation_p.P211L|RGS9_ENST00000262406.9_Missense_Mutation_p.P211L|RGS9_ENST00000577186.1_3'UTR NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 211 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity p.P211L(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 GTGACCAATCCGAATGAAGTC 0.488000 31 25 0 0 1 0 0 PIPOX 51268 broad.mit.edu 37 17 27380580 27380580 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:27380580C>T ENST00000323372.4 + 4 953 c.627C>T c.(625-627)ctC>ctT p.L209L PIPOX_ENST00000583215.1_3'UTR NM_016518.2 NP_057602.2 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 209 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) CCAACCAGCTCCTCCGTCCCC 0.547000 18 41 0 0 1 0 0 RFFL 117584 broad.mit.edu 37 17 33353427 33353427 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:33353427G>A ENST00000315249.7 - 2 368 c.146C>T c.(145-147)tCc>tTc p.S49F RFFL_ENST00000268850.7_Missense_Mutation_p.S49F|RFFL_ENST00000394597.2_Missense_Mutation_p.S49F|RFFL_ENST00000584655.1_Missense_Mutation_p.S49F|RFFL_ENST00000378516.2_Missense_Mutation_p.S49F|RFFL_ENST00000413582.2_Missense_Mutation_p.S49F|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Missense_Mutation_p.S49F|RFFL_ENST00000415395.2_Missense_Mutation_p.S49F Q8WZ73 RFFL_HUMAN ring finger and FYVE-like domain containing E3 ubiquitin protein ligase 49 apoptosis membrane ligase activity|zinc ion binding kidney(1)|large_intestine(2)|lung(3) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) AGCCCCACAGGACTTGCAGCT 0.607000 13 17 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525597 176525597 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:176525597G>A ENST00000367662.3 + 2 1303 c.139G>A c.(139-141)Gga>Aga p.G47R PAPPA2_ENST00000367661.3_Missense_Mutation_p.G47R NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 47 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCTGTTGGAAGGAGAACGTTG 0.557000 33 34 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79786768 79786768 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:79786768G>A ENST00000335016.5 + 10 1291 c.1125G>A c.(1123-1125)aaG>aaA p.K375K BMP2K_ENST00000502871.1_Silent_p.K375K NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 375 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 AAAGACCAAAGGCCAACTCTG 0.413000 25 30 0 0 1 0 0 TH 7054 broad.mit.edu 37 11 2186473 2186473 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:2186473C>T ENST00000381178.1 - 13 1434 c.1416G>A c.(1414-1416)aaG>aaA p.K472K TH_ENST00000381175.1_Silent_p.K468K|TH_ENST00000333684.5_Silent_p.K351K|TH_ENST00000352909.3_Silent_p.K441K NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 472 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) TGAGCTTGTCCTTGGCGTCAC 0.627000 27 44 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156786131 156786131 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:156786131A>T ENST00000347377.6 + 24 3223 c.2792A>T c.(2791-2793)gAa>gTa p.E931V CYFIP2_ENST00000442283.2_Missense_Mutation_p.N215Y|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E856V|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E630V|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E931V|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E956V|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E905V|CYFIP2_ENST00000522463.1_Missense_Mutation_p.E735V NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 956 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTCATGGAGGAACTGCTAAAG 0.463000 26 39 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600664 29600664 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:29600664C>T ENST00000431530.3 + 1 1917 c.1859C>T c.(1858-1860)tCc>tTc p.S620F NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 610 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GACACACCTTCCTCGCAGGAG 0.522000 18 15 0 0 1 0 0 CCNT2 905 broad.mit.edu 37 2 135677382 135677382 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:135677382C>T ENST00000264157.5 + 2 191 c.161C>T c.(160-162)tCt>tTt p.S54F CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Missense_Mutation_p.S54F NM_001241.3|NM_058241.2 NP_001232.1|NP_490595.1 O60583 CCNT2_HUMAN cyclin T2 54 cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein kinase binding endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.107) CGTTCCAGCTCTCAGCTTACA 0.348000 16 8 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17052665 17052665 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:17052665G>A ENST00000418129.2 + 2 1914 c.1449G>A c.(1447-1449)gtG>gtA p.V483V PLCL2_ENST00000396755.2_Silent_p.V483V|PLCL2_ENST00000432376.1_Silent_p.V483V NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 609 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 ATGTGCCTGTGAAGCGATTTC 0.438000 14 22 0 0 1 0 0 KLHL25 64410 broad.mit.edu 37 15 86312345 86312345 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:86312345G>A ENST00000337975.5 - 2 971 c.697C>T c.(697-699)Ctc>Ttc p.L233F KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.L233F NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 233 cytoplasm breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 ACGCTGCGGAGGAGCTCGGGC 0.652000 9 16 0 0 1 0 0 TKTL1 8277 broad.mit.edu 37 X 153533723 153533723 + Missense_Mutation SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:153533723A>G ENST00000369915.3 + 2 391 c.202A>G c.(202-204)Aag>Gag p.K68E TKTL1_ENST00000217905.7_Missense_Mutation_p.K12E|TKTL1_ENST00000369912.2_Missense_Mutation_p.K12E NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 68 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CATGAGGTACAAGCAGTCAGA 0.522000 19 32 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93611825 93611825 + Silent SNP G G A rs138227513 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:93611825G>A ENST00000394236.3 - 10 1423 c.1107C>T c.(1105-1107)tcC>tcT p.S369S PROS1_ENST00000407433.1_Silent_p.S238S NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 369 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTGTGATTTTGGATGTATGTT 0.398000 14 41 0 0 1 0 0 PRR19 284338 broad.mit.edu 37 19 42814737 42814737 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:42814737C>T ENST00000499536.2 + 2 1727 c.916C>T c.(916-918)Cct>Tct p.P306S PRR19_ENST00000341747.3_Missense_Mutation_p.P306S|PRR19_ENST00000598490.1_3'UTR A6NJB7 PRR19_HUMAN proline rich 19 306 Pro-rich. NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) GGTTGGCCTCCCTCAGCCCCT 0.652000 59 76 0 0 1 0 0 TMEM47 83604 broad.mit.edu 37 X 34648488 34648488 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:34648488G>A ENST00000275954.3 - 3 746 c.488C>T c.(487-489)tCg>tTg p.S163L NM_031442.3 NP_113630.1 Q9BQJ4 TMM47_HUMAN transmembrane protein 47 163 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 ACCCCCAAACGAAAATATAGT 0.428000 18 29 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108202232 108202232 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:108202232G>A ENST00000278616.4 + 51 7962 c.7577G>A c.(7576-7578)aGa>aAa p.R2526K C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.R2526K NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2526 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTGGCTGCTAGAATGGGGACC 0.328000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 5 14 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133281 91133281 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:91133281C>T ENST00000373094.1 + 2 2887 c.2042C>T c.(2041-2043)tCt>tTt p.S681F PCDH11X_ENST00000298274.8_Missense_Mutation_p.S681F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S681F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S681F|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S681F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S681F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S681F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S681F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S681F NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 681 Cadherin 7. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TCCAACTGTTCTTATGAATTG 0.433000 42 59 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34083126 34083126 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:34083126G>A ENST00000373381.4 - 38 6095 c.5919C>T c.(5917-5919)ttC>ttT p.F1973F CSMD2_ENST00000373388.2_Silent_p.F72F|CSMD2_ENST00000373380.1_Silent_p.F846F|CSMD2_ENST00000373377.1_Silent_p.F72F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1933 CUB 12. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCTCACACTGGAAAGACACCA 0.587000 11 18 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4967770 4967770 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:4967770C>T ENST00000380373.2 - 1 586 c.561G>A c.(559-561)atG>atA p.M187I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGCCAACTTCATGACATCCT 0.418000 21 12 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29642514 29642514 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:29642514G>A ENST00000373779.3 + 24 3493 c.3363_splice c.e24-1 p.E1122_splice PTPRU_ENST00000356870.3_Splice_Site_p.E1128_splice|PTPRU_ENST00000345512.3_Splice_Site_p.E1132_splice|PTPRU_ENST00000323874.8_Splice_Site_p.E1128_splice|PTPRU_ENST00000460170.2_Splice_Site_p.E1128_splice|PTPRU_ENST00000428026.2_Splice_Site_p.E1119_splice NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1132 Tyrosine-protein phosphatase 1. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CCTGTTCCAGGAGCAGTACAT 0.542000 8 8 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144865903 144865903 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:144865903C>T ENST00000369359.4 - 38 6123 c.6085G>A c.(6085-6087)Ggc>Agc p.G2029S PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.G1787S|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.G1893S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G1978S|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.G1893S Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1893 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GACTCCAGGCCCTGACTGTAG 0.453000 T PDGFRB MPD 35 175 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10362679 10362679 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:10362679G>A ENST00000255381.2 - 15 1586 c.1476C>T c.(1474-1476)ttC>ttT p.F492F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 492 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGTGGTGGTTGAAAAACTGTT 0.473000 31 17 0 0 1 0 0 SASH3 54440 broad.mit.edu 37 X 128922472 128922472 + Silent SNP G G C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:128922472G>C ENST00000356892.3 + 3 333 c.219G>C c.(217-219)ggG>ggC p.G73G NM_018990.3 NP_061863.1 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 73 breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 AAAAGCTGGGGAAGAAGTGGA 0.532000 13 23 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1507821 1507821 + Missense_Mutation SNP G G A rs145974595 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:1507821G>A ENST00000345913.4 + 14 2579 c.2488G>A c.(2488-2490)Gag>Aag p.E830K TPO_ENST00000382198.1_Missense_Mutation_p.E657K|TPO_ENST00000349624.3_Missense_Mutation_p.E657K|TPO_ENST00000346956.3_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.E830K|TPO_ENST00000329066.4_Missense_Mutation_p.E830K|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Missense_Mutation_p.E773K NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 830 EGF-like; calcium-binding (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGACCCCTACGAGTTAGGAGA 0.562000 20 12 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142459658 142459658 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:142459658C>T ENST00000486171.1 + 4 293 c.276C>T c.(274-276)atC>atT p.I92I PRSS1_ENST00000311737.7_Silent_p.I78I P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 78 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) AGCACAACATCGAAGTCCTGG 0.547000 41 106 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3842066 3842066 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:3842066T>C ENST00000262367.5 - 5 2055 c.1246A>G c.(1246-1248)Atc>Gtc p.I416V CREBBP_ENST00000382070.3_Intron NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 416 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CAATGAGAGATGATTTGTCGT 0.408000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 13 26 0 0 1 0 0 IGHD 3495 broad.mit.edu 37 14 106311849 106311849 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:106311849G>A ENST00000390556.2 - 0 161 TGTATCTCAGGGAAGGTTCTC 0.587000 16 34 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059796 152059796 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:152059796C>T ENST00000368806.1 - 3 426 c.362G>A c.(361-363)tGg>tAg p.W121* NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 121 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TCCCACTGTCCACTGACCATC 0.443000 30 39 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57176221 57176221 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:57176221C>T ENST00000537055.2 - 2 577 c.346G>A c.(346-348)Ggg>Agg p.G116R 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 AAGGCCTTCCCGCAGTCCCCG 0.637000 21 34 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62543092 62543092 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:62543092C>T ENST00000383710.4 - 10 2090 c.1741G>A c.(1741-1743)Gac>Aac p.D581N CADPS_ENST00000357948.3_Missense_Mutation_p.D581N|CADPS_ENST00000283269.9_Missense_Mutation_p.D581N NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 581 PH. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GGCTGGGGGTCGGTGTAATCC 0.522000 19 41 0 0 1 0 0 ZNF362 149076 broad.mit.edu 37 1 33746006 33746006 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:33746006C>T ENST00000539719.1 + 5 801 c.631C>T c.(631-633)Ccc>Tcc p.P211S ZNF362_ENST00000373428.5_Missense_Mutation_p.P211S NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 211 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) CCTTGTAGTCCCCTATCCCAT 0.672000 6 12 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118230538 118230538 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:118230538G>A ENST00000402510.2 - 8 1184 c.1185C>T c.(1183-1185)acC>acT p.T395T NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 395 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 AACAGCCCTGGGTGGTGGCTG 0.498000 12 17 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65392415 65392415 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:65392415G>A ENST00000519389.1 + 3 727 c.548G>A c.(547-549)gGt>gAt p.G183D HEPH_ENST00000441993.2_Missense_Mutation_p.G132D|HEPH_ENST00000374727.3_Missense_Mutation_p.G132D|HEPH_ENST00000343002.2_Missense_Mutation_p.G129D|HEPH_ENST00000419594.1_Missense_Mutation_p.G132D|HEPH_ENST00000336279.5_5'UTR Q9BQS7 HEPH_HUMAN hephaestin 129 Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CACCCTCATGGTGTCTTCTAC 0.483000 27 46 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62283975 62283975 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:62283975C>T ENST00000261517.5 - 17 1453 c.1380G>A c.(1378-1380)agG>agA p.R460R VPS13C_ENST00000395898.3_Silent_p.R417R|VPS13C_ENST00000249837.3_Silent_p.R417R|VPS13C_ENST00000395896.4_Silent_p.R460R NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 460 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CAGACTTTTTCCTTAATTTTT 0.388000 33 48 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31532132 31532132 + Silent SNP C C A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:31532132C>A ENST00000373747.3 - 2 381 c.282G>T c.(280-282)ggG>ggT p.G94G PUM1_ENST00000257075.5_Silent_p.G94G|PUM1_ENST00000373741.4_Silent_p.G130G|PUM1_ENST00000424085.2_Silent_p.G94G|PUM1_ENST00000426105.2_Silent_p.G94G|PUM1_ENST00000373742.2_Silent_p.G130G|PUM1_ENST00000423018.2_Silent_p.G94G|PUM1_ENST00000440538.2_Silent_p.G94G NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 94 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TTCCTCCTCCCCCAAGCTGCT 0.502000 33 36 9.78485e-24 9.9919e-24 1 1 0 BTK 695 broad.mit.edu 37 X 100608963 100608963 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:100608963C>T ENST00000308731.7 - 17 1808 c.1645G>A c.(1645-1647)Gat>Aat p.D549N BTK_ENST00000372880.1_Missense_Mutation_p.D373N NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 549 Protein kinase. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GTGTATTCATCATCCAGGACA 0.473000 Agammaglobulinemia, X-linked 27 45 0 0 1 0 0 CST5 1473 broad.mit.edu 37 20 23860231 23860231 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:23860231C>T ENST00000304710.4 - 1 156 c.83G>A c.(82-84)aGg>aAg p.R28K NM_001900.4 NP_001891.2 P28325 CYTD_HUMAN cystatin D 28 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 TGCCAAGGTCCTAGATTGGGC 0.562000 42 58 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123556363 123556363 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:123556363G>A ENST00000422452.2 - 24 4293 c.4230C>T c.(4228-4230)ccC>ccT p.P1410P TENM1_ENST00000371130.3_Silent_p.P1403P|STAG2_ENST00000469481.1_3'UTR NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GGCAGTGAATGGGGCGTCCTG 0.498000 27 42 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84502582 84502582 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:84502582G>A ENST00000360700.4 + 3 890 c.4G>A c.(4-6)Gat>Aat p.D2N ZNF711_ENST00000276123.3_Missense_Mutation_p.D2N|ZNF711_ENST00000395402.1_5'UTR|ZNF711_ENST00000373165.3_Missense_Mutation_p.D2N Q9Y462 ZN711_HUMAN zinc finger protein 711 2 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 GCTAAGTATGGATTCAGGCGG 0.338000 19 45 0 0 1 0 0 ABCC6P1 653190 broad.mit.edu 37 16 18597253 18597253 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:18597253C>T ENST00000546162.2 + 0 993 NR_003569.1 CGCAGTGCAGCCCGGGGGTAA 0.552000 30 48 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124392724 124392724 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:124392724G>A ENST00000368909.3 + 49 6134 c.6028G>A c.(6028-6030)Ggc>Agc p.G2010S DMBT1_ENST00000330163.4_Missense_Mutation_p.G1382S|DMBT1_ENST00000368955.3_Missense_Mutation_p.G2000S|DMBT1_ENST00000344338.3_Missense_Mutation_p.G2000S|DMBT1_ENST00000359586.6_Missense_Mutation_p.G730S|DMBT1_ENST00000338354.3_Missense_Mutation_p.G2010S|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1382S NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2010 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTCCTGCGGAGGCTTCCTATC 0.478000 27 14 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325615 57325615 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:57325615C>T ENST00000326441.9 - 10 4558 c.4195G>A c.(4195-4197)Gtg>Atg p.V1399M PEG3_ENST00000423103.2_Missense_Mutation_p.V1399M|PEG3_ENST00000598410.1_Missense_Mutation_p.V1275M|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.V1273M|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1399 3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GCAGCCTCCACTTCTGGCTCA 0.582000 24 39 0 0 1 0 0 TRBV27 28560 broad.mit.edu 37 7 142423623 142423623 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:142423623C>T ENST00000506718.1 + 0 631 TRBV27_ENST00000390399.3_RNA AGAGGAATTTCCCCCTGATCC 0.498000 17 19 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81839417 81839417 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:81839417G>A ENST00000550584.2 - 5 783 c.488C>T c.(487-489)tCt>tTt p.S163F PPFIA2_ENST00000552948.1_Missense_Mutation_p.S163F|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S89F|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S10F|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S145F|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S89F|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S163F|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S163F|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S145F NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 89 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TCCTGAGGGAGACTGGGCTTG 0.433000 9 13 0 0 1 0 0 STT3A 3703 broad.mit.edu 37 11 125476270 125476270 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:125476270C>T ENST00000392708.4 + 8 849 c.690C>T c.(688-690)ggC>ggT p.G230G STT3A_ENST00000531491.1_Silent_p.G138G|STT3A_ENST00000529196.1_Silent_p.G230G NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 230 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TGCTCACAGGCCGTTTCTCTC 0.473000 38 46 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116075334 116075334 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:116075334C>T ENST00000369271.3 - 6 897 c.597G>A c.(595-597)aaG>aaA p.K199K AFAP1L2_ENST00000304129.4_Silent_p.K199K|AFAP1L2_ENST00000545353.1_Silent_p.K252K NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 199 PH 1. inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) GCCTGTTGTCCTTGATGACAC 0.632000 9 7 0 0 1 0 0 LUM 4060 broad.mit.edu 37 12 91502535 91502535 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:91502535C>T ENST00000266718.4 - 2 676 c.222G>A c.(220-222)agG>agA p.R74R LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 74 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 TCTGGTTATTCCTAAGGTAAA 0.408000 21 32 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144077024 144077024 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:144077024G>A ENST00000056217.5 + 15 4843 c.4669G>A c.(4669-4671)Gag>Aag p.E1557K ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E479K NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 1557 SH3. intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CTCAGACGGGGAGCGAGGCTG 0.567000 51 70 0 0 1 0 0 TCF12 6938 broad.mit.edu 37 15 57484473 57484473 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:57484473C>T ENST00000267811.5 + 7 812 c.508C>T c.(508-510)Cat>Tat p.H170Y TCF12_ENST00000333725.5_Missense_Mutation_p.H170Y|TCF12_ENST00000452095.2_Missense_Mutation_p.H166Y|TCF12_ENST00000438423.2_Missense_Mutation_p.H170Y|TCF12_ENST00000557843.1_Missense_Mutation_p.H170Y NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 170 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) GAGACCACTCCATGACTCTGC 0.473000 T TEC extraskeletal myxoid chondrosarcoma 17 33 0 0 1 0 0 PPP3CA 5530 broad.mit.edu 37 4 101947217 101947217 + Splice_Site SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:101947217A>T ENST00000394854.3 - 14 2054 c.1369_splice c.e14-1 p.A457_splice PPP3CA_ENST00000523694.2_Splice_Site_p.A390_splice|PPP3CA_ENST00000394853.4_Splice_Site_p.A447_splice|PPP3CA_ENST00000507176.1_Splice_Site_p.A359_splice|PPP3CA_ENST00000512215.1_Splice_Site_p.A225_splice|PPP3CA_ENST00000323055.6_Splice_Site_p.A405_splice NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 457 protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) ATCCTTTGATAGCTAAACAGA 0.428000 8 23 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 11997355 11997355 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:11997355G>A ENST00000356352.2 - 13 3199 c.2726C>T c.(2725-2727)tCc>tTc p.S909F UPF2_ENST00000357604.5_Missense_Mutation_p.S909F|UPF2_ENST00000397053.2_Missense_Mutation_p.S909F Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 909 MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TGGGTCCAGGGAACTTGGAGA 0.418000 15 7 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130417024 130417024 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:130417024G>A ENST00000370904.1 - 12 1765 c.855C>T c.(853-855)taC>taT p.Y285Y IGSF1_ENST00000361420.3_Silent_p.Y294Y|IGSF1_ENST00000370903.3_Silent_p.Y294Y|IGSF1_ENST00000370910.1_Silent_p.Y285Y Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 294 Ig-like C2-type 3. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 AAAAACAGAGGTAATGTCCAG 0.403000 16 31 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57931788 57931788 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:57931788G>A ENST00000564448.1 - 30 3049 c.2989C>T c.(2989-2991)Cag>Tag p.Q997* CNGB1_ENST00000251102.8_Nonsense_Mutation_p.Q1003* Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 1003 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 TGCCCTGCCTGGATGATGTAC 0.547000 50 80 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56424312 56424312 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:56424312C>T ENST00000588751.1 - 5 895 c.871G>A c.(871-873)Gat>Aat p.D291N NLRP13_ENST00000342929.3_Missense_Mutation_p.D291N Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 291 NACHT. ATP binding p.D291N(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GCATCAAAATCGGGCCAATCC 0.398000 25 23 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122729243 122729243 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:122729243G>A ENST00000267199.4 - 7 954 c.842C>T c.(841-843)cCc>cTc p.P281L RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.P242L NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 281 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) TGCTTCCGTGGGGAGGTCCTT 0.488000 23 23 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6527123 6527123 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:6527123C>T ENST00000263125.5 - 10 1108 c.1009G>A c.(1009-1011)Gga>Aga p.G337R PRKCQ_ENST00000397176.2_Missense_Mutation_p.G337R|PRKCQ_ENST00000539722.1_Missense_Mutation_p.G212R NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 337 axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CCTCTTTTTCCCGGTGTCGGT 0.433000 37 21 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12655875 12655875 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:12655875C>T ENST00000425538.1 + 10 1470 c.1270C>T c.(1270-1272)Cct>Tct p.P424S MYOCD_ENST00000343344.4_Missense_Mutation_p.P424S|MYOCD_ENST00000395988.1_Missense_Mutation_p.P328S NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 424 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TGTCACTTTTCCTGTCACACC 0.572000 26 7 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124345875 124345875 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:124345875G>A ENST00000368909.3 + 16 1865 c.1759G>A c.(1759-1761)Gaa>Aaa p.E587K DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.E577K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E577K|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.E587K|DMBT1_ENST00000368956.2_Intron NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 587 SRCR 4. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGCCATAGTGAAGACGCTGG 0.517000 38 63 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67084326 67084326 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:67084326C>T ENST00000284425.2 - 28 3854 c.3680G>A c.(3679-3681)cGa>cAa p.R1227Q ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1227 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) AGGATCTTTTCGCATTCTTTT 0.318000 3 7 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196879546 196879546 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:196879546G>A ENST00000367416.2 + 6 1069 c.932G>A c.(931-933)gGa>gAa p.G311E CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.G65E|CFHR4_ENST00000251424.4_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 ACTCCTTCAGGAAGTTACTGG 0.408000 22 25 0 0 1 0 0 TUBA3D 113457 broad.mit.edu 37 2 132236896 132236896 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:132236896G>A ENST00000321253.6 + 3 349 c.242G>A c.(241-243)gGg>gAg p.G81E TUBA3D_ENST00000409047.2_3'UTR NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 81 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) GTGCGCACAGGGACCTACAGG 0.512000 37 20 0 0 1 0 0 SPATA5L1 79029 broad.mit.edu 37 15 45710813 45710813 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:45710813C>T ENST00000305560.6 + 7 2126 c.2027C>T c.(2026-2028)tCc>tTc p.S676F SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 676 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) CCTGATGTCTCCTTAGAAAAC 0.343000 18 24 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61537180 61537180 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:61537180G>A ENST00000370371.4 - 6 2002 c.1647C>T c.(1645-1647)atC>atT p.I549I DIDO1_ENST00000395340.1_Intron|DIDO1_ENST00000370366.1_Intron|DIDO1_ENST00000395335.2_Intron|DIDO1_ENST00000266071.5_Intron|DIDO1_ENST00000354665.4_Silent_p.I549I|DIDO1_ENST00000370368.1_Silent_p.I549I|DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000395343.1_Intron NM_022105.4 NP_071388.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 0 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) AGGCCCAGGGGATGGCTATCC 0.562000 20 31 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25479234 25479234 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:25479234G>A ENST00000453082.2 + 0 1775 NR_003343.1 ACTCGTGTTGGGCCCACAGGC 0.592000 10 10 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35334369 35334369 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:35334369C>T ENST00000373347.1 - 9 2590 c.2322G>A c.(2320-2322)tgG>tgA p.W774* DLGAP3_ENST00000235180.4_Nonsense_Mutation_p.W774* O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 774 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CGCGCTCTATCCAGGAGTCAC 0.736000 7 11 0 0 1 0 0 TMEM39A 55254 broad.mit.edu 37 3 119177008 119177008 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:119177008G>A ENST00000319172.5 - 3 613 c.193C>T c.(193-195)Cct>Tct p.P65S TMEM39A_ENST00000486159.1_5'UTR NM_018266.1 NP_060736.1 Q9NV64 TM39A_HUMAN transmembrane protein 39A 65 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 13 GBM - Glioblastoma multiforme(114;0.244) GGCAAGTCAGGAATTTGGCAA 0.423000 14 16 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137623950 137623950 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:137623950G>A ENST00000371817.3 + 9 1780 c.1366G>A c.(1366-1368)Gga>Aga p.G456R NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 456 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGGCCAAAAGGGAGAACCAGC 0.547000 16 14 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47880400 47880400 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:47880400C>T ENST00000328771.4 + 13 2992 c.2643C>T c.(2641-2643)ttC>ttT p.F881F NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 881 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) TCCTCAGCTTCGTGTCCCTGC 0.632000 12 18 0 0 1 0 0 CHRM4 1132 broad.mit.edu 37 11 46408063 46408063 + Silent SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:46408063G>T ENST00000433765.2 - 1 44 c.45C>A c.(43-45)tcC>tcA p.S15S NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 15 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) CCAGGCGCACGGACTGATTGC 0.577000 26 47 8.24728e-16 8.39136e-16 1 1 0 OGFOD2 79676 broad.mit.edu 37 12 123463464 123463464 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:123463464G>A ENST00000397389.2 + 7 1255 c.516G>A c.(514-516)ctG>ctA p.L172L OGFOD2_ENST00000545612.1_Silent_p.L68L|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538628.1_Silent_p.L68L|OGFOD2_ENST00000545317.1_Silent_p.L68L|ABCB9_ENST00000542678.1_5'UTR|OGFOD2_ENST00000538755.1_Silent_p.L68L|OGFOD2_ENST00000536150.1_Silent_p.L68L|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000228922.7_Silent_p.L232L|OGFOD2_ENST00000454694.2_Silent_p.L68L NM_024623.1 NP_078899.1 Q6N063 OGFD2_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 2 232 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(2)|lung(4)|pancreas(1) 8 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107) Vitamin C(DB00126) ACCTGGAGCTGGGCTGCCACT 0.637000 22 25 0 0 1 0 0 RGS7BP 401190 broad.mit.edu 37 5 63890536 63890536 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:63890536G>A ENST00000334025.2 + 4 789 c.e4-1 NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) CCCTCCCTTAGGAAAGGAACC 0.473000 24 30 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66945813 66945813 + Silent SNP G G A rs145107014 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:66945813G>A ENST00000299752.4 - 13 1972 c.1779C>T c.(1777-1779)agC>agT p.S593S CDH16_ENST00000570262.1_Silent_p.S513S|CDH16_ENST00000568632.1_Silent_p.S496S|CDH16_ENST00000394055.3_Silent_p.S593S|CDH16_ENST00000565796.1_Silent_p.S593S NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 593 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TGAGGGTTCGGCTGATGGGGT 0.627000 28 30 0 0 1 0 0 SF3B2 10992 broad.mit.edu 37 11 65835464 65835464 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:65835464C>T ENST00000528302.1 + 19 2381 c.2327C>T c.(2326-2328)gCc>gTc p.A776V SF3B2_ENST00000322535.6_Missense_Mutation_p.A793V|RP11-1167A19.2_ENST00000529036.1_Intron Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 793 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 AAGAGAACAGCCACTGTTGGA 0.512000 OREG0021094 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 52 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140734830 140734830 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140734830G>A ENST00000571252.1 + 1 63 c.63G>A c.(61-63)ggG>ggA p.G21G PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTCCTGGGGGTTCTGGTGG 0.617000 27 41 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22161612 22161612 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:22161612C>T ENST00000356766.6 + 11 1408 c.1260C>T c.(1258-1260)acC>acT p.T420T PIWIL2_ENST00000454009.2_Silent_p.T420T|PIWIL2_ENST00000521356.1_Silent_p.T420T NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 420 PAZ. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) TTGTTATCACCCGATATAACA 0.393000 12 39 0 0 1 0 0 FAM154A 158297 broad.mit.edu 37 9 18941723 18941723 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:18941723G>A ENST00000380534.4 - 3 612 c.333C>T c.(331-333)ccC>ccT p.P111P FAM154A_ENST00000542071.1_Intron|FAM154A_ENST00000380530.1_Intron NM_153707.2 NP_714918.2 Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A 111 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) AGACAGGGTAGGGATTGTAAT 0.478000 28 41 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90347724 90347724 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:90347724G>A ENST00000300060.6 - 5 1335 c.1022C>T c.(1021-1023)tCa>tTa p.S341L NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 341 Interaction with HCoV-229E.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CCACTCACCTGATTTTGGGAG 0.597000 28 56 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 45059275 45059275 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:45059275G>A ENST00000429094.2 - 13 1940 c.1436C>T c.(1435-1437)tCa>tTa p.S479L NELL2_ENST00000549027.1_Missense_Mutation_p.S478L|NELL2_ENST00000395487.2_Missense_Mutation_p.S478L|NELL2_ENST00000452445.2_Missense_Mutation_p.S479L|NELL2_ENST00000437801.2_Missense_Mutation_p.S529L|NELL2_ENST00000333837.4_Missense_Mutation_p.S502L|NELL2_ENST00000551601.1_Missense_Mutation_p.S478L NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 479 EGF-like 2; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) ACCTGTACATGAATAATCATC 0.328000 10 11 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2705049 2705049 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:2705049C>T ENST00000399655.1 + 20 2938 c.2673C>T c.(2671-2673)ctC>ctT p.L891L CACNA1C_ENST00000402845.3_Silent_p.L891L|CACNA1C_ENST00000399634.1_Silent_p.L891L|CACNA1C_ENST00000347598.4_Silent_p.L891L|CACNA1C_ENST00000399591.1_Silent_p.L891L|CACNA1C_ENST00000399629.1_Silent_p.L891L|CACNA1C_ENST00000399601.1_Silent_p.L891L|CACNA1C_ENST00000399638.1_Silent_p.L891L|CACNA1C_ENST00000327702.7_Silent_p.L891L|CACNA1C_ENST00000399637.1_Silent_p.L891L|CACNA1C_ENST00000399649.1_Silent_p.L891L|CACNA1C_ENST00000344100.3_Silent_p.L891L|CACNA1C_ENST00000406454.3_Silent_p.L891L|CACNA1C_ENST00000399597.1_Silent_p.L891L|CACNA1C_ENST00000480911.1_Silent_p.L891L|CACNA1C_ENST00000399644.1_Silent_p.L891L|CACNA1C_ENST00000399641.1_Silent_p.L891L|CACNA1C_ENST00000399595.1_Silent_p.L891L|CACNA1C_ENST00000399603.1_Silent_p.L891L|CACNA1C_ENST00000399617.1_Silent_p.L891L|CACNA1C_ENST00000335762.5_Silent_p.L916L|CACNA1C_ENST00000399621.1_Silent_p.L891L|CACNA1C_ENST00000399606.1_Silent_p.L891L NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 891 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGTTTCGCCTCCAGTGCCACC 0.582000 12 33 0 0 1 0 0 IGHV5-51 28388 broad.mit.edu 37 14 107034839 107034839 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:107034839G>A ENST00000390626.2 - 0 299 TGGAAGGACGGGCTGTATCTG 0.587000 21 48 0 0 1 0 0 TC2N 123036 broad.mit.edu 37 14 92258807 92258807 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:92258807C>T ENST00000435962.2 - 9 1274 c.951G>A c.(949-951)agG>agA p.R317R TC2N_ENST00000340892.5_Silent_p.R317R|TC2N_ENST00000556018.1_Intron|TC2N_ENST00000360594.5_Silent_p.R317R NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 317 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) TGGTTTTCTTCCTGGGAGTCT 0.343000 25 36 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83352835 83352835 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:83352835C>T ENST00000262752.2 - 19 1805 c.1798G>A c.(1798-1800)Gat>Aat p.D600N RPS6KA6_ENST00000543399.1_Missense_Mutation_p.D600N|RPS6KA6_ENST00000495332.1_5'UTR NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 600 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 CAAGCAGCATCATATCCCTGT 0.308000 44 56 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48696338 48696338 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:48696338C>T ENST00000352832.5 + 31 6020 c.5648C>T c.(5647-5649)tCa>tTa p.S1883L CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1906L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1872L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1894L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1876L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1910L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1883L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1894L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1883L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1917L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1899L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1883L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1892L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1865L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1872L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1906L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1917L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1917L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1860L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1899L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1883L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1917L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1924L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1906L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1906L NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1917 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CACGCGAGATCAGCCTCCCAC 0.711000 9 16 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155215137 155215137 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:155215137G>A ENST00000460012.1 - 15 2133 c.1776C>T c.(1774-1776)tcC>tcT p.S592S PLCH1_ENST00000447496.2_Silent_p.S610S|PLCH1_ENST00000340059.7_Silent_p.S610S|PLCH1_ENST00000334686.6_Silent_p.S592S|PLCH1_ENST00000414191.1_Silent_p.S592S|PLCH1_ENST00000494598.1_Silent_p.S610S Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 610 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GAGCGGCCACGGAGTTTGTGT 0.443000 13 42 0 0 1 0 0 DCBLD2 131566 broad.mit.edu 37 3 98600485 98600485 + Missense_Mutation SNP A A G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:98600485A>G ENST00000326840.6 - 2 694 c.332T>C c.(331-333)gTt>gCt p.V111A DCBLD2_ENST00000469648.1_Intron|DCBLD2_ENST00000326857.9_Missense_Mutation_p.V111A NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 111 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 TTTGATGCGAACTCTCTCTCC 0.408000 36 61 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34174862 34174862 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:34174862G>A ENST00000373380.1 - 1 242 c.22C>T c.(22-24)Cca>Tca p.P8S CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Intron Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 749 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACTCAGCTGGAAAGAGAATC 0.448000 7 7 0 0 1 0 0 AVIL 10677 broad.mit.edu 37 12 58197442 58197442 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:58197442C>T ENST00000537081.1 - 14 1660 c.1661G>A c.(1660-1662)gGg>gAg p.G554E TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.G561E O75366 AVIL_HUMAN advillin 561 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) CCGCTCATCCCCACTAGACCC 0.567000 OREG0021955 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 12 0 0 1 0 0 FNBP1L 54874 broad.mit.edu 37 1 94014865 94014865 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:94014865C>T ENST00000260506.8 + 13 1510 c.1359C>T c.(1357-1359)aaC>aaT p.N453N FNBP1L_ENST00000370256.4_Silent_p.N506N|FNBP1L_ENST00000370253.2_Silent_p.N453N|FNBP1L_ENST00000271234.7_Silent_p.N511N|FNBP1L_ENST00000604705.1_Silent_p.N511N NM_001024948.2|NM_017737.4 NP_001020119.1|NP_060207.2 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like 511 Interaction with CDC42. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1) 11 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) ATGATGCAAACCAGGAAGTCC 0.388000 6 23 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20384133 20384133 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:20384133G>A ENST00000302451.4 - 7 1157 c.909C>T c.(907-909)ttC>ttT p.F303F NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 303 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 CCTTGTTTTGGAATTCCTTTG 0.468000 14 28 0 0 1 0 0 P2RY8 286530 broad.mit.edu 37 X 1584687 1584687 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:1584687G>A ENST00000381297.4 - 2 975 c.765C>T c.(763-765)ttC>ttT p.F255F NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 255 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCAGGAGCACGAAGTTGTTGG 0.652000 T CRLF2 """B-ALL, Downs associated ALL""" 11 25 0 0 1 0 0 TH 7054 broad.mit.edu 37 11 2186472 2186472 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:2186472C>T ENST00000381178.1 - 13 1435 c.1417G>A c.(1417-1419)Gac>Aac p.D473N TH_ENST00000381175.1_Missense_Mutation_p.D469N|TH_ENST00000333684.5_Missense_Mutation_p.D352N|TH_ENST00000352909.3_Missense_Mutation_p.D442N NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 473 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) CTGAGCTTGTCCTTGGCGTCA 0.632000 27 43 0 0 1 0 0 KRT32 3882 broad.mit.edu 37 17 39620353 39620353 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:39620353C>T ENST00000225899.3 - 5 1076 c.973G>A c.(973-975)Gag>Aag p.E325K NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 325 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) GCCTGCAGCTCGATCTCCAGC 0.592000 12 27 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12516831 12516831 + Missense_Mutation SNP C C A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:12516831C>A ENST00000380682.1 + 2 580 c.74C>A c.(73-75)cCc>cAc p.P25H NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 25 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TGGCCGCCTCCCTCGGGAACC 0.512000 10 30 3.07112e-06 3.08757e-06 1 1 0 PVRL2 5819 broad.mit.edu 37 19 45368641 45368641 + Missense_Mutation SNP G G C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:45368641G>C ENST00000252483.5 + 2 202 c.202G>C c.(202-204)Gtg>Ctg p.V68L PVRL2_ENST00000252485.4_Missense_Mutation_p.V68L NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 68 Ig-like V-type. adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) CATCTCCCTGGTGACCTGGCA 0.657000 15 28 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22069155 22069155 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:22069155C>T ENST00000306385.5 + 20 3545 c.2875C>T c.(2875-2877)Cac>Tac p.H959Y BMP1_ENST00000354870.5_3'UTR NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 959 CUB 5. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GGTGAAGTTCCACTCGGATGA 0.562000 35 38 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43772148 43772148 + Missense_Mutation SNP G G A rs139507205 by1000genomes TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:43772148G>A ENST00000244293.7 - 2 284 c.218C>T c.(217-219)aCg>aTg p.T73M PSG9_ENST00000418820.2_Missense_Mutation_p.T73M|PSG9_ENST00000270077.3_Missense_Mutation_p.T73M|PSG9_ENST00000291752.5_Missense_Mutation_p.T73M|PSG9_ENST00000596730.1_Missense_Mutation_p.T73M|PSG9_ENST00000443718.3_Missense_Mutation_p.T73M|PSG9_ENST00000593948.1_Missense_Mutation_p.T73M Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 73 Ig-like V-type. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GTAGAGGTCCGTCATTTCCCC 0.428000 4 140 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177041199 177041199 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:177041199G>A ENST00000393643.2 + 4 741 c.489G>A c.(487-489)ggG>ggA p.G163G WDR17_ENST00000508596.1_Silent_p.G163G|WDR17_ENST00000280190.4_Silent_p.G187G|WDR17_ENST00000507824.2_Silent_p.G187G NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 187 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ACCAAAAGGGGAAAGTTGTGT 0.348000 23 38 0 0 1 0 0 RABAC1 10567 broad.mit.edu 37 19 42462917 42462917 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:42462917G>A ENST00000222008.6 - 2 337 c.240C>T c.(238-240)ttC>ttT p.F80F RABAC1_ENST00000601078.1_5'UTR|RABAC1_ENST00000601891.1_Silent_p.F80F NM_006423.2 NP_006414.2 Q9UI14 PRAF1_HUMAN Rab acceptor 1 (prenylated) 80 cell junction|Golgi apparatus|integral to membrane|synaptic vesicle identical protein binding central_nervous_system(1)|kidney(1)|prostate(1) 3 CCAGGAACACGAACACATAGT 0.662000 8 16 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76910700 76910700 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:76910700G>A ENST00000409709.3 + 35 4961 c.4689G>A c.(4687-4689)gcG>gcA p.A1563A MYO7A_ENST00000458637.2_Silent_p.A1525A|MYO7A_ENST00000409619.2_Silent_p.A1514A NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1563 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCAGGGGAGCGAAAACGACGG 0.632000 6 14 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73010776 73010776 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:73010776G>A ENST00000313375.3 - 12 1903 c.1856C>T c.(1855-1857)tCc>tTc p.S619F MLXIPL_ENST00000414749.2_Missense_Mutation_p.S619F|MLXIPL_ENST00000429400.2_Missense_Mutation_p.S619F|MLXIPL_ENST00000395189.1_Missense_Mutation_p.S526F|MLXIPL_ENST00000354613.1_Missense_Mutation_p.S619F|MLXIPL_ENST00000434326.1_Missense_Mutation_p.S525F NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 619 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) GCCTGGCATGGAGCTGAGGTC 0.657000 16 34 0 0 1 0 0 PDPR 55066 broad.mit.edu 37 16 70190628 70190628 + Missense_Mutation SNP T T G TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:70190628T>G ENST00000288050.4 + 19 3443 c.2486T>G c.(2485-2487)gTg>gGg p.V829G PDPR_ENST00000568530.1_Missense_Mutation_p.V829G|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000542659.1_Missense_Mutation_p.V174G|PDPR_ENST00000567046.1_Missense_Mutation_p.V187G|PDPR_ENST00000398122.3_Missense_Mutation_p.V729G|PDPR_ENST00000562100.1_3'UTR NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 829 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) GAAGAGCAAGTGGTGACAGCA 0.567000 16 50 0 0 1 0 0 SERPINB11 89778 broad.mit.edu 37 18 61388181 61388181 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:61388181G>A ENST00000544088.1 + 0 797 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) AATTAAGCATGATTATTCTGC 0.373000 3 9 0 0 1 0 0 EEF1DP3 196549 broad.mit.edu 37 13 32527418 32527418 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:32527418G>A ENST00000428783.1 + 0 1118 GGACAAGGTGGGGACAGACTT 0.582000 29 30 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32134659 32134659 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:32134659C>T ENST00000312561.4 + 4 1184 c.770C>T c.(769-771)cCa>cTa p.P257L KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 TTAACTTTACCATCAAGGCAG 0.393000 20 36 0 0 1 0 0 SWT1 54823 broad.mit.edu 37 1 185153439 185153439 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:185153439C>T ENST00000367500.4 + 8 1368 c.1203C>T c.(1201-1203)ctC>ctT p.L401L SWT1_ENST00000367501.3_Silent_p.L401L NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 401 PINc. breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 TGAATCATCTCAAATTTGTTA 0.269000 7 13 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46806849 46806849 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:46806849C>T ENST00000230588.4 + 14 2226 c.2217C>T c.(2215-2217)atC>atT p.I739I NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 739 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) TCATCGCCATCCTTTCCCAAA 0.597000 27 42 0 0 1 0 0 PJA1 64219 broad.mit.edu 37 X 68382856 68382856 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:68382856G>A ENST00000361478.1 - 2 603 c.226C>T c.(226-228)Cgt>Tgt p.R76C PJA1_ENST00000374584.3_Missense_Mutation_p.R76C|PJA1_ENST00000374583.1_Missense_Mutation_p.R76C|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Missense_Mutation_p.R21C NM_001032396.2|NM_022368.4|NM_145119.3 NP_001027568.1|NP_071763.2|NP_660095.1 Q8NG27 PJA1_HUMAN praja ring finger 1, E3 ubiquitin protein ligase 76 zinc ion binding endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 CAACTACGACGAGTAGTGGAA 0.517000 45 49 0 0 1 0 0 TUBA1A 7846 broad.mit.edu 37 12 49579070 49579070 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:49579070G>A ENST00000301071.7 - 4 1423 c.1079C>T c.(1078-1080)cCc>cTc p.P360L TUBA1A_ENST00000550767.1_Missense_Mutation_p.P325L|TUBA1A_ENST00000295766.5_Missense_Mutation_p.P360L NM_001270400.1|NM_006009.3 NP_001257329.1|NP_006000.2 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 360 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 CACCACAGTGGGAGGCTGGTA 0.577000 13 16 0 0 1 0 0 ZIM2 23619 broad.mit.edu 37 19 57286272 57286272 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:57286272C>T ENST00000391708.3 - 12 1910 c.1368G>A c.(1366-1368)cgG>cgA p.R456R ZIM2_ENST00000601070.1_Silent_p.R456R|ZIM2_ENST00000221722.5_Silent_p.R456R|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000593711.1_Silent_p.R456R|ZIM2_ENST00000599935.1_Silent_p.R456R|AC006115.3_ENST00000594400.1_RNA NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) AGTCATGTTTCCGCTGATAAC 0.463000 8 12 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20380937 20380937 + Silent SNP G G A rs144874720 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:20380937G>A ENST00000302451.4 - 8 1241 c.993C>T c.(991-993)gtC>gtT p.V331V NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 331 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 ATGGGATATCGACCTCTGTGA 0.468000 33 56 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860808 16860808 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:16860808C>T ENST00000524140.2 + 6 1773 c.1355C>T c.(1354-1356)cCc>cTc p.P452L NWD1_ENST00000552788.1_Missense_Mutation_p.P452L|NWD1_ENST00000549814.1_Missense_Mutation_p.P452L|NWD1_ENST00000379808.3_Missense_Mutation_p.P452L|NWD1_ENST00000339803.6_Missense_Mutation_p.P317L|NWD1_ENST00000523826.1_Missense_Mutation_p.P246L NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 452 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CGGAGGGTTCCCTGGCTGCCT 0.617000 21 48 0 0 1 0 0 U47924.28 0 broad.mit.edu 37 12 7080017 7080017 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:7080017G>A ENST00000261406.6 + 0 74 CAGCCGGAAGGAAATTTGTGA 0.542000 2 0 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61833786 61833786 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:61833786C>T ENST00000280772.1 - 37 7044 c.6853G>A c.(6853-6855)Gat>Aat p.D2285N ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2285 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTGGAAGGATCCCGCCCGGAC 0.488000 45 16 0 0 1 0 0 AKT1S1 84335 broad.mit.edu 37 19 50374934 50374934 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:50374934G>A ENST00000391833.1 - 3 2486 c.497C>T c.(496-498)aCc>aTc p.T166I AKT1S1_ENST00000391832.3_Missense_Mutation_p.T166I|AKT1S1_ENST00000391835.1_Missense_Mutation_p.T186I|AKT1S1_ENST00000391831.1_Missense_Mutation_p.T166I|AKT1S1_ENST00000344175.5_Missense_Mutation_p.T166I|AKT1S1_ENST00000391834.2_Missense_Mutation_p.T166I NM_001278160.1 NP_001265089.1 Q96B36 AKTS1_HUMAN AKT1 substrate 1 (proline-rich) 166 negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression cytosolic part protein binding kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) CACTGAGCAGGTGGGGGGGCC 0.652000 33 36 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13612411 13612411 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:13612411G>A ENST00000404922.3 + 2 675 c.556G>A c.(556-558)Gag>Aag p.E186K FBLN2_ENST00000492059.1_Missense_Mutation_p.E186K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E186K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E212K NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 186 N.|Subdomain NB (Cys-free). proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AGATGCCGAGGAGGGTGACCC 0.672000 6 16 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3640456 3640456 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:3640456G>A ENST00000294008.3 - 12 3823 c.3183C>T c.(3181-3183)tcC>tcT p.S1061S NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1061 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 TTCCGCCACGGGACCGGGGTG 0.637000 Direct reversal of damage 36 74 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325756 57325756 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:57325756C>T ENST00000326441.9 - 10 4417 c.4054G>A c.(4054-4056)Gag>Aag p.E1352K PEG3_ENST00000423103.2_Missense_Mutation_p.E1352K|PEG3_ENST00000598410.1_Missense_Mutation_p.E1228K|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1226K|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1352 Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AGATGAAGCTCCTTATGTTTA 0.448000 19 17 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197408089 197408089 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:197408089G>A ENST00000273582.5 - 17 2751 c.2206C>T c.(2206-2208)Ctc>Ttc p.L736F KIAA0226_ENST00000389665.5_Missense_Mutation_p.L806F|KIAA0226_ENST00000296343.5_Missense_Mutation_p.L781F NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 781 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) ATCTTAATGAGCAGGTCCTTG 0.527000 27 57 0 0 1 0 0 PPIC 5480 broad.mit.edu 37 5 122359606 122359606 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:122359606C>T ENST00000306442.4 - 5 718 c.603G>A c.(601-603)gtG>gtA p.V201V NM_000943.4 NP_000934.1 P45877 PPIC_HUMAN peptidylprolyl isomerase C (cyclophilin C) 201 protein folding|signal transduction cytoplasm cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 6 all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505) L-Proline(DB00172) AAGGCGTTTTCACGTCTATCT 0.507000 44 70 0 0 1 0 0 PAM 5066 broad.mit.edu 37 5 102326039 102326039 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:102326039G>A ENST00000438793.3 + 15 2017 c.1547G>A c.(1546-1548)gGg>gAg p.G516E PAM_ENST00000455264.2_Missense_Mutation_p.G516E|PAM_ENST00000348126.2_Missense_Mutation_p.G409E|PAM_ENST00000346918.2_Missense_Mutation_p.G516E|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_Missense_Mutation_p.G419E|PAM_ENST00000304400.7_Missense_Mutation_p.G516E NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 516 Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) CAGGTTTCTGGGGTGGCTCTA 0.408000 10 14 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76557804 76557804 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:76557804C>T ENST00000389840.5 - 12 1952 c.1828G>A c.(1828-1830)Gaa>Aaa p.E610K DNAH17_ENST00000585328.1_Missense_Mutation_p.E610K dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CACGGGTGTTCGACGTGCTTC 0.647000 8 10 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113723520 113723520 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:113723520G>A ENST00000295878.3 - 11 2088 c.1942C>T c.(1942-1944)Cca>Tca p.P648S KIAA1407_ENST00000545063.1_Missense_Mutation_p.P479S NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 648 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 AATTGCTTTGGTTTCCTTCTG 0.463000 44 75 0 0 1 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48522991 48522991 + Missense_Mutation SNP C C T rs139657764 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:48522991C>T ENST00000339841.2 + 5 549 c.371C>T c.(370-372)tCt>tTt p.S124F ELSPBP1_ENST00000597519.1_Intron NM_022142.4 NP_071425.3 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 124 Fibronectin type-II 3. single fertilization extracellular region NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6) 10 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) GGGGGAAATTCTCTCAGGAAG 0.463000 14 21 0 0 1 0 0 LPAL2 80350 broad.mit.edu 37 6 160906968 160906968 + RNA SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:160906968G>A ENST00000335388.5 - 0 728 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) CCATTTCCATGGTAGCACTCC 0.453000 46 25 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28502252 28502252 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:28502252C>T ENST00000261609.7 - 17 2580 c.2472G>A c.(2470-2472)gaG>gaA p.E824E NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 824 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CACACTCTTTCTCCTGGGGCG 0.522000 19 30 0 0 1 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68777091 68777091 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:68777091C>T ENST00000508048.1 - 10 1258 c.1223G>A c.(1222-1224)cGa>cAa p.R408Q TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.R412Q|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.R409Q Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 412 Peptidase S1. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 AATCCAGTTTCGGTAATAAGT 0.378000 27 41 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53420335 53420335 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:53420335C>T ENST00000377942.3 - 1 2440 c.2237G>A c.(2236-2238)tGg>tAg p.W746* PCDH8_ENST00000338862.4_Nonsense_Mutation_p.W746* NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 746 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CGGCGTGTCCCATTGCAGCAC 0.721000 6 59 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21427487 21427487 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:21427487C>T ENST00000313654.9 + 32 4232 c.3991C>T c.(3991-3993)Cgc>Tgc p.R1331C LAMA3_ENST00000399516.3_Missense_Mutation_p.R1331C NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1331 Domain III B.|Laminin EGF-like 10. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGCCCTCCCCGCACGGTCAG 0.617000 20 34 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028726 37028726 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:37028726C>T ENST00000358047.3 + 1 2295 c.2243C>T c.(2242-2244)tCc>tTc p.S748F NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 748 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCTCGGGTTTCCAGTCTCCGC 0.632000 28 42 0 0 1 0 0 MAGEB2 4113 broad.mit.edu 37 X 30236701 30236701 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:30236701C>T ENST00000378988.4 + 2 105 c.4C>T c.(4-6)Cct>Tct p.P2S NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 2 protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 AGCCATCATGCCTCGTGGTCA 0.527000 4 17 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12856083 12856083 + Missense_Mutation SNP A A C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:12856083A>C ENST00000332296.7 + 4 1466 c.1363A>C c.(1363-1365)Acc>Ccc p.T455P PRAMEF1_ENST00000400814.3_Missense_Mutation_p.T210P NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 455 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CATTGGCCCCACCCCCTGCCC 0.562000 19 133 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113529312 113529312 + Missense_Mutation SNP A A C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:113529312A>C ENST00000297405.5 - 28 4951 c.4707T>G c.(4705-4707)atT>atG p.I1569M CSMD3_ENST00000352409.3_Missense_Mutation_p.I1569M|CSMD3_ENST00000343508.3_Missense_Mutation_p.I1529M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1465M NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1569 Sushi 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTTCTACCTGAATGCAGGTTA 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 31 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144990870 144990870 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:144990870G>A ENST00000322810.4 - 32 13699 c.13530C>T c.(13528-13530)gcC>gcT p.A4510A PLEC_ENST00000527096.1_Silent_p.A4396A|PLEC_ENST00000398774.2_Silent_p.A4341A|PLEC_ENST00000356346.3_Silent_p.A4359A|PLEC_ENST00000354589.3_Silent_p.A4373A|PLEC_ENST00000354958.2_Silent_p.A4351A|PLEC_ENST00000357649.2_Silent_p.A4377A|PLEC_ENST00000345136.3_Silent_p.A4373A|PLEC_ENST00000436759.2_Silent_p.A4400A NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4510 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 CCTTCTTCAGGGCCTGGGCGG 0.662000 15 34 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40135965 40135965 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:40135965C>T ENST00000278198.2 - 2 3841 c.1878G>A c.(1876-1878)ttG>ttA p.L626L LRRC4C_ENST00000530763.1_Silent_p.L626L|LRRC4C_ENST00000527150.1_Silent_p.L626L|LRRC4C_ENST00000528697.1_Silent_p.L626L Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 626 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TCATTCGGATCAATAACGGTT 0.308000 22 21 0 0 1 0 0 MAPK15 225689 broad.mit.edu 37 8 144803839 144803839 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:144803839C>T ENST00000338033.4 + 12 1444 c.1325C>T c.(1324-1326)tCg>tTg p.S442L NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 442 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 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) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TTGACACTCTCGCTGGTAAGT 0.637000 21 48 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14803054 14803054 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:14803054G>A ENST00000253697.3 + 15 2879 c.2427G>A c.(2425-2427)ctG>ctA p.L809L C3orf20_ENST00000435614.1_Silent_p.L687L|C3orf20_ENST00000412910.1_Silent_p.L687L NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 809 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 AGAATCTGCTGAAACAGATCT 0.488000 16 27 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46567197 46567197 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:46567197G>A ENST00000458649.2 - 5 926 c.508C>T c.(508-510)Ccc>Tcc p.P170S AMBRA1_ENST00000426438.1_Missense_Mutation_p.P170S|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P170S|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P170S|AMBRA1_ENST00000528950.1_Missense_Mutation_p.P170S|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P170S|AMBRA1_ENST00000298834.3_Missense_Mutation_p.P170S Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 170 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) ACAGCAAAGGGTTCCCGTCGA 0.562000 27 32 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8331620 8331620 + Silent SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:8331620T>C ENST00000381196.4 - 41 6039 c.5496A>G c.(5494-5496)gaA>gaG p.E1832E PTPRD_ENST00000486161.1_Silent_p.E1425E|PTPRD_ENST00000540109.1_Silent_p.E1832E|PTPRD_ENST00000358503.5_Silent_p.E1810E|PTPRD_ENST00000397606.3_Silent_p.E1425E|PTPRD_ENST00000355233.5_Silent_p.E1426E|PTPRD_ENST00000356435.5_Silent_p.E1832E|PTPRD_ENST00000397611.3_Silent_p.E1422E|PTPRD_ENST00000397617.3_Silent_p.E1425E|PTPRD_ENST00000537002.1_Silent_p.E1422E|PTPRD_ENST00000360074.4_Silent_p.E1819E NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1832 Tyrosine-protein phosphatase 2. 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) GGCCAAACTGTTCTTTTGTTT 0.438000 TSP Lung(15;0.13) 25 41 0 0 1 0 0 GPRIN1 114787 broad.mit.edu 37 5 176024766 176024766 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:176024766G>A ENST00000303991.4 - 2 2247 c.2070C>T c.(2068-2070)tcC>tcT p.S690S NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 690 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTTTCCCCAGGGACACAGGCT 0.577000 20 23 0 0 1 0 0 DAGLB 221955 broad.mit.edu 37 7 6476165 6476165 + Splice_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:6476165C>T ENST00000297056.6 - 3 417 c.e3-1 DAGLB_ENST00000425398.2_Splice_Site|DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000479922.2_Splice_Site|DAGLB_ENST00000436575.1_Splice_Site|DAGLB_ENST00000421761.2_Intron NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) CAAATCGTTCCTGAAATACAA 0.473000 20 16 0 0 1 0 0 FBXL16 146330 broad.mit.edu 37 16 746973 746973 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:746973C>T ENST00000397621.1 - 2 764 c.433G>A c.(433-435)Gag>Aag p.E145K FBXL16_ENST00000324361.5_Missense_Mutation_p.E145K NM_153350.3 NP_699181.2 Q8N461 FXL16_HUMAN F-box and leucine-rich repeat protein 16 145 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1) 10 Hepatocellular(780;0.0218) TTGTAGAGCTCCTTGGCATGC 0.642000 17 26 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767140 77767140 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:77767140G>A ENST00000521891.2 + 10 8431 c.7983G>A c.(7981-7983)agG>agA p.R2661R ZFHX4_ENST00000518282.1_Silent_p.R2635R|ZFHX4_ENST00000050961.6_Silent_p.R2616R|ZFHX4_ENST00000455469.2_Silent_p.R2616R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2616 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CGCGGGAGAGGAAAGGCCAGT 0.527000 HNSCC(33;0.089) 19 33 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47425236 47425236 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:47425236G>A ENST00000404338.3 + 1 3304 c.3304G>A c.(3304-3306)Gaa>Aaa p.E1102K NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 1102 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity p.E1102Q(1) GAATGAAGAAGAAAACATATA 0.502000 10 16 0 0 1 0 0 IGHV3-53 28420 broad.mit.edu 37 14 107048861 107048861 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:107048861C>T ENST00000390627.2 - 0 379 GGACCCAGCTCATGTAGTTGC 0.592000 29 131 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 53975559 53975559 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:53975559G>A ENST00000312233.2 - 8 2066 c.1500C>T c.(1498-1500)ttC>ttT p.F500F NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 500 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GAGGGCTCTGGAAGGGTGGGT 0.692000 3 4 0 0 1 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375880 93375880 + Missense_Mutation SNP G G A rs71494416 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:93375880G>A ENST00000375765.3 - 2 618 c.230C>T c.(229-231)tCc>tTc p.S77F NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 77 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 GTGCCCTTTGGAGATGGACAG 0.562000 40 21 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9262613 9262613 + Missense_Mutation SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:9262613T>A ENST00000318602.7 - 6 830 c.523A>T c.(523-525)Atc>Ttc p.I175F NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 175 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) CATTGTGCGATGCGATTTCCT 0.428000 25 43 0 0 1 0 0 VSTM2A 222008 broad.mit.edu 37 7 54612452 54612452 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:54612452G>A ENST00000302287.3 + 2 623 c.217G>A c.(217-219)Gat>Aat p.D73N VSTM2A_ENST00000402026.2_Missense_Mutation_p.D72N|VSTM2A_ENST00000404951.1_Missense_Mutation_p.D73N|VSTM2A_ENST00000407838.3_Missense_Mutation_p.D73N|VSTM2A_ENST00000402613.3_Missense_Mutation_p.D73N Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 73 Ig-like V-type. extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) GGAGGACCTGGATCCCGGGGC 0.731000 7 13 0 0 1 0 0 SLC38A8 146167 broad.mit.edu 37 16 84043400 84043400 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:84043400C>T ENST00000299709.3 - 10 1296 c.1297G>A c.(1297-1299)Gag>Aag p.E433K NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 433 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CAGAACATCTCCCAGACCGCT 0.622000 11 18 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12364662 12364662 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:12364662T>C ENST00000358136.3 + 26 6446 c.6316T>C c.(6316-6318)Ttc>Ctc p.F2106L VPS13D_ENST00000356315.4_Missense_Mutation_p.F2106L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2106 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCAGGGGCAGTTCACGATGCC 0.567000 20 22 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77398163 77398163 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:77398163G>A ENST00000282849.5 - 5 1312 c.894C>T c.(892-894)ctC>ctT p.L298L NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 298 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CTGCCACCACGAGGGTTTCCA 0.483000 11 14 0 0 1 0 0 SGMS2 166929 broad.mit.edu 37 4 108816868 108816868 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:108816868C>T ENST00000394684.4 + 3 716 c.159C>T c.(157-159)acC>acT p.T53T SGMS2_ENST00000394686.3_Silent_p.T53T|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000359079.4_Silent_p.T53T|RP11-286E11.1_ENST00000513071.1_RNA NM_001136258.1 NP_001129730.1 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 53 sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1) 20 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) GAAAAGGCACCAAAAAGTACC 0.443000 13 25 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279850 152279850 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:152279850G>A ENST00000368799.1 - 3 7547 c.7512C>T c.(7510-7512)tcC>tcT p.S2504S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2504 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTGCCCATGGGAGGCATCAG 0.547000 Ichthyosis 148 172 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71318529 71318529 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:71318529C>T ENST00000370932.2 - 3 1321 c.1091G>A c.(1090-1092)gGa>gAa p.G364E PTGER3_ENST00000370931.3_3'UTR|PTGER3_ENST00000351052.5_3'UTR|PTGER3_ENST00000460330.1_Missense_Mutation_p.G373E NM_198717.1 NP_942010.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 364 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) GTTTTAATTTCCCCAAAATTC 0.338000 42 78 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21487526 21487526 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:21487526C>T ENST00000313654.9 + 53 6972 c.6731C>T c.(6730-6732)gCt>gTt p.A2244V LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.A579V|LAMA3_ENST00000399516.3_Missense_Mutation_p.A2188V|LAMA3_ENST00000269217.6_Missense_Mutation_p.A635V NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2244 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCAGTCCAGCTCTCAACAAC 0.423000 23 57 0 0 1 0 0 NSUN2 54888 broad.mit.edu 37 5 6611115 6611115 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:6611115G>A ENST00000264670.6 - 11 1490 c.1179C>T c.(1177-1179)ttC>ttT p.F393F NSUN2_ENST00000506139.1_Silent_p.F358F|NSUN2_ENST00000539938.1_Silent_p.F157F NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 393 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 CCTTCGGAGGGAACATGGTAG 0.592000 16 31 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42154373 42154373 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:42154373G>A ENST00000320955.6 - 44 7730 c.7503C>T c.(7501-7503)agC>agT p.S2501S NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2501 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CTTCCACAGGGCTGCGAGGAG 0.627000 3 8 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122729244 122729244 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:122729244G>A ENST00000267199.4 - 7 953 c.841C>T c.(841-843)Ccc>Tcc p.P281S RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.P242S NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 281 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) GCTTCCGTGGGGAGGTCCTTA 0.493000 23 24 0 0 1 0 0 IL17B 27190 broad.mit.edu 37 5 148754101 148754101 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:148754101C>T ENST00000261796.3 - 3 424 c.374G>A c.(373-375)gGc>gAc p.G125D RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR NM_014443.2 NP_055258.1 Q9UHF5 IL17B_HUMAN interleukin 17B 125 cell-cell signaling|immune response|inflammatory response extracellular space cytokine activity|signal transducer activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCACACAGCCCAGACACAG 0.662000 29 33 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3328996 3328996 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:3328996C>T ENST00000378398.3 + 10 2320 c.2238C>T c.(2236-2238)ctC>ctT p.L746L PRDM16_ENST00000514189.1_Silent_p.L746L|PRDM16_ENST00000511072.1_Silent_p.L746L|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.L745L|PRDM16_ENST00000441472.2_Silent_p.L745L|PRDM16_ENST00000378391.2_Silent_p.L745L|PRDM16_ENST00000270722.5_Silent_p.L745L Q9HAZ2 PRD16_HUMAN PR domain containing 16 745 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) ACCGAGCCCTCGCCCACAACT 0.647000 T EVI1 """MDS, AML""" 26 52 0 0 1 0 0 TM7SF3 51768 broad.mit.edu 37 12 27132718 27132718 + Splice_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:27132718C>T ENST00000343028.4 - 9 1413 c.1189_splice c.e9+1 p.L396_splice NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 396 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) ATCGCCTACCCAGTGGAGTAA 0.473000 5 11 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100199436 100199436 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:100199436C>T ENST00000317233.4 - 16 2852 c.2617G>A c.(2617-2619)Gaa>Aaa p.E873K AFF3_ENST00000356421.2_Missense_Mutation_p.E898K|AFF3_ENST00000409236.1_Missense_Mutation_p.E873K|AFF3_ENST00000409579.1_Missense_Mutation_p.E898K NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 873 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 AGCATTTTTTCATTTTTATTT 0.413000 23 12 0 0 1 0 0 NANOGP1 404635 broad.mit.edu 37 12 8051405 8051405 + RNA SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:8051405A>T ENST00000607111.1 + 0 625 kidney(1)|lung(4)|prostate(1) 6 GAAGGCCTTAATGTAATACAG 0.463000 7 57 0 0 1 0 0 KHDC1L 100129128 broad.mit.edu 37 6 73933975 73933975 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:73933975G>A ENST00000370388.3 - 2 252 c.209C>T c.(208-210)aCt>aTt p.T70I RP11-257K9.8_ENST00000423730.3_3'UTR NM_001126063.2 NP_001119535.1 Q5JSQ8 KHDCL_HUMAN KH homology domain containing 1-like 70 breast(1)|endometrium(1)|kidney(1)|lung(3)|skin(1) 7 TCCGACTACAGTCACACGTGT 0.552000 4 1 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187004844 187004844 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:187004844C>T ENST00000296795.2 + 4 2108 c.2004C>T c.(2002-2004)atC>atT p.I668I TLR3_ENST00000504367.1_Silent_p.I391I NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 668 LRRCT. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|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-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) ATACCAACATCCCTGAGCTGT 0.453000 47 73 0 0 1 0 0 ZNF506 440515 broad.mit.edu 37 19 19906391 19906391 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:19906391C>T ENST00000443905.2 - 4 452 c.305G>A c.(304-306)aGa>aAa p.R102K CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000540806.2_Missense_Mutation_p.R102K|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.R70K Q5JVG8 ZN506_HUMAN zinc finger protein 506 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 TTTTTCATATCTTCTTAGTAT 0.328000 10 22 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36162769 36162769 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:36162769G>A ENST00000378660.1 + 11 1540 c.1352G>A c.(1351-1353)cGa>cAa p.R451Q CHDC2_ENST00000313548.4_Missense_Mutation_p.R451Q calponin homology domain containing 2 gttaccatccgattggctgtg 0.443000 6 18 0 0 1 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220368696 220368696 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:220368696G>A ENST00000358951.2 - 11 1100 c.984C>T c.(982-984)tcC>tcT p.S328S NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 328 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) GTGCAACATGGGATAATAATG 0.308000 26 38 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10951344 10951344 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr21:10951344G>A ENST00000298232.7 - 9 681 c.314C>T c.(313-315)cCt>cTt p.P105L TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.P85L|TPTE_ENST00000361285.4_Missense_Mutation_p.P123L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 123 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATACTCCAAAGGAATATAAAG 0.323000 8 22 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107015508 107015508 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:107015508G>A ENST00000369701.3 + 24 3513 c.3286G>A c.(3286-3288)Gag>Aag p.E1096K NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1096 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGTCCAGTTTGAGCTGAAGCC 0.458000 12 9 0 0 1 0 0 ABCA17P 650655 broad.mit.edu 37 16 2474740 2474740 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:2474740C>T ENST00000469908.1 + 0 2909 NR_003574.1 TGGAGGAGTTCAAGGCCTTCG 0.667000 4 11 0 0 1 0 0 ZNF76 7629 broad.mit.edu 37 6 35261549 35261549 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:35261549C>T ENST00000373953.3 + 12 1617 c.1351C>T c.(1351-1353)Ctg>Ttg p.L451L ZNF76_ENST00000339411.5_Intron|ZNF76_ENST00000440666.2_Silent_p.L425L NM_003427.3 NP_003418.2 P36508 ZNF76_HUMAN zinc finger protein 76 451 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 CCCGGAAGACCTGCAGGCCCT 0.602000 25 52 0 0 1 0 0 RNF19B 127544 broad.mit.edu 37 1 33402703 33402703 + Missense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:33402703G>T ENST00000373456.7 - 9 1902 c.1903C>A c.(1903-1905)Ccc>Acc p.P635T RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.P634T NM_153341.2 NP_699172.2 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B 635 integral to membrane ligase activity|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CTGCAGGGGGGATCCTCTTCA 0.567000 30 56 5.45727e-16 5.55595e-16 1 1 0 GNAO1 2775 broad.mit.edu 37 16 56374802 56374802 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:56374802C>T ENST00000262494.7 + 7 1040 c.780C>T c.(778-780)ttC>ttT p.F260F GNAO1_ENST00000262493.6_Intron NM_138736.2 NP_620073.2 P09471 GNAO_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 260 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1) 17 all_neural(199;0.159) ACAAATGGTTCACAGACACGT 0.483000 108 151 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961741 73961741 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:73961741T>C ENST00000373468.1 - 3 3302 c.2651A>G c.(2650-2652)aAc>aGc p.N884S KIAA2022_ENST00000055682.5_Missense_Mutation_p.N884S Q5QGS0 K2022_HUMAN KIAA2022 884 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 ATTTCTATAGTTGCTTGATTC 0.488000 9 17 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28962815 28962815 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:28962815G>A ENST00000377179.3 - 7 2476 c.1964C>T c.(1963-1965)tCt>tTt p.S655F ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 655 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 TGAGGTCTGAGAAACAGTCAC 0.423000 9 10 0 0 1 0 0 ARMCX3 51566 broad.mit.edu 37 X 100880948 100880948 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:100880948C>T ENST00000341189.4 + 5 1845 c.979C>T c.(979-981)Caa>Taa p.Q327* ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.Q327*|ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.Q327* NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 327 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 TACTCAGAATCAATTCGGTGA 0.308000 26 40 0 0 1 0 0 C12orf56 115749 broad.mit.edu 37 12 64668686 64668686 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:64668686G>A ENST00000543942.2 - 11 2205 c.1579C>T c.(1579-1581)Ccc>Tcc p.P527S C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Missense_Mutation_p.P367S|RPS11P6_ENST00000535684.1_RNA NM_001170633.1 NP_001164104.1 Q8IXR9 CL056_HUMAN chromosome 12 open reading frame 56 530 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) CTTACGATGGGAGGACAGCTT 0.368000 25 22 0 0 1 0 0 FUT3 2525 broad.mit.edu 37 19 5844628 5844628 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:5844628G>A ENST00000303225.6 - 3 857 c.223C>T c.(223-225)Cct>Tct p.P75S FUT3_ENST00000589620.1_Missense_Mutation_p.P75S|FUT3_ENST00000589918.1_Missense_Mutation_p.P75S|FUT3_ENST00000458379.2_Missense_Mutation_p.P75S NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 75 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 AGAGCCACAGGGATGTGGAAA 0.637000 32 35 0 0 1 0 0 IFT80 57560 broad.mit.edu 37 3 160099326 160099326 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:160099326G>A ENST00000326448.7 - 3 656 c.224C>T c.(223-225)aCc>aTc p.T75I IFT80_ENST00000477495.1_5'UTR|IFT80_ENST00000483465.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000496589.1_5'UTR NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 75 cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTCTGCCTGGGTTTGTTTCTT 0.323000 17 19 0 0 1 0 0 GPR174 84636 broad.mit.edu 37 X 78426738 78426738 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:78426738C>T ENST00000276077.1 + 1 270 c.234C>T c.(232-234)taC>taT p.Y78Y NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 78 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 GGATCTTCTACTACTTGAATC 0.398000 HNSCC(63;0.18) 10 13 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52556396 52556396 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:52556396G>A ENST00000261839.7 - 9 1199 c.1038C>T c.(1036-1038)tcC>tcT p.S346S MYO5C_ENST00000443683.2_Silent_p.S289S|MYO5C_ENST00000541028.1_5'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 346 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CACTAACTGAGGACCTCTCGT 0.473000 7 15 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69817407 69817407 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:69817407C>T ENST00000251566.4 - 1 102 c.72G>A c.(70-72)ggG>ggA p.G24G NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 24 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCAGGACTTTCCCACAGAATC 0.493000 17 32 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8639324 8639324 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:8639324G>A ENST00000378641.3 + 9 1310 c.835G>A c.(835-837)Gaa>Aaa p.E279K PLCB1_ENST00000338037.6_Missense_Mutation_p.E279K|PLCB1_ENST00000378637.2_Missense_Mutation_p.E279K NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 279 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TGAGAAGTATGAACCCAACAA 0.433000 26 42 0 0 1 0 0 TSPAN18 90139 broad.mit.edu 37 11 44941443 44941443 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:44941443G>A ENST00000340160.3 + 7 747 c.508G>A c.(508-510)Gaa>Aaa p.E170K TSPAN18_ENST00000520358.2_Missense_Mutation_p.E170K NM_130783.4 NP_570139.3 Q96SJ8 TSN18_HUMAN tetraspanin 18 170 integral to membrane endometrium(1)|large_intestine(6)|lung(3) 10 CCTGGATAGTGAAGAGGTGCC 0.587000 40 66 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96827404 96827404 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:96827404C>T ENST00000371270.3 - 2 307 c.213G>A c.(211-213)atG>atA p.M71I CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 71 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CTATGGGATTCATGCCAAAAT 0.413000 11 7 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85515512 85515512 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:85515512C>T ENST00000393217.2 + 16 3476 c.3415C>T c.(3415-3417)Ctc>Ttc p.L1139F NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1139 LRRCT. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TCTGAGAATCCTCAATGGCAA 0.378000 10 17 0 0 1 0 0 ARHGAP1 392 broad.mit.edu 37 11 46702863 46702863 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:46702863G>A ENST00000311956.4 - 6 613 c.516C>T c.(514-516)atC>atT p.I172I NM_004308.2 NP_004299.1 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 172 CRAL-TRIO. Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) GCTTGAAGAGGATGAGCAGAG 0.567000 25 55 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179592998 179592998 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:179592998C>T ENST00000589042.1 - 67 19777 c.19553G>A c.(19552-19554)gGa>gAa p.G6518E TTN_ENST00000591111.1_Missense_Mutation_p.G6201E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G5274E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6201 Ig-like 46. 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) TATTTCTTTTCCATCCTTAAA 0.368000 10 4 0 0 1 0 0 SRSF6 6431 broad.mit.edu 37 20 42089646 42089646 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:42089646C>T ENST00000244020.3 + 6 1084 c.978C>T c.(976-978)tcC>tcT p.S326S NM_006275.5 NP_006266.2 Q13247 SRSF6_HUMAN serine/arginine-rich splicing factor 6 326 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 CTTCAAGATCCCGTTCTAGAT 0.488000 24 29 0 0 1 0 0 ARC 23237 broad.mit.edu 37 8 143694448 143694448 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:143694448G>A ENST00000356613.2 - 1 2385 c.1185C>T c.(1183-1185)ccC>ccT p.P395P NM_015193.3 NP_056008.1 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated protein 395 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) CCCTCTACTCGGGCTGGGTCC 0.706000 2 2 0 0 1 0 0 CFHR2 3080 broad.mit.edu 37 1 196927044 196927044 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:196927044C>T ENST00000367415.4 + 4 568 c.454C>T c.(454-456)Cct>Tct p.P152S CFHR2_ENST00000367421.3_Missense_Mutation_p.P152S|CFHR2_ENST00000476712.1_3'UTR NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 152 Sushi 3. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 ATGTGGGCCCCCTCCACCTAT 0.383000 16 36 0 0 1 0 0 ZNF416 55659 broad.mit.edu 37 19 58084161 58084161 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:58084161G>A ENST00000196489.3 - 4 1333 c.1111C>T c.(1111-1113)Cga>Tga p.R371* NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CTCTGGTGTCGAACAAGAGTG 0.423000 17 30 0 0 1 0 0 ATXN10 25814 broad.mit.edu 37 22 46085648 46085648 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:46085648C>T ENST00000252934.5 + 2 438 c.173C>T c.(172-174)tCt>tTt p.S58F ATXN10_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Intron NM_013236.3 NP_037368.1 Q9UBB4 ATX10_HUMAN ataxin 10 58 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 10 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) AAGAAATCTTCTCATGCTGTT 0.403000 21 41 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19319022 19319022 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:19319022G>A ENST00000263208.5 - 25 3251 c.2995C>T c.(2995-2997)Cga>Tga p.R999* HIRA_ENST00000541063.1_Nonsense_Mutation_p.R955*|HIRA_ENST00000340170.4_Nonsense_Mutation_p.R792* NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 999 Interaction with histone H4. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CGCTGGAATCGGAGGTTCTGC 0.607000 24 31 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86512515 86512515 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:86512515C>T ENST00000370571.2 - 12 2309 c.1943G>A c.(1942-1944)gGg>gAg p.G648E COL24A1_ENST00000436319.1_Missense_Mutation_p.G648E NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 648 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TACCTGTCTCCCCTTAAAacc 0.313000 12 20 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39552819 39552819 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:39552819G>A ENST00000251645.2 - 3 493 c.441C>T c.(439-441)acC>acT p.T147T NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 147 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GGGACAGCTCGGTCTGGTACC 0.557000 29 27 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107698335 107698335 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:107698335C>T ENST00000388781.3 - 24 3404 c.3321G>A c.(3319-3321)ggG>ggA p.G1107G LAMB4_ENST00000388780.3_Silent_p.G1107G|LAMB4_ENST00000205386.4_Silent_p.G1107G NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1107 Laminin EGF-like 12. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TGCAACGTTTCCCGCCGTAAC 0.428000 12 13 0 0 1 0 0 TIMM8A 1678 broad.mit.edu 37 X 100601521 100601521 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:100601521G>A ENST00000372902.3 - 2 791 c.260C>T c.(259-261)tCc>tTc p.S87F NM_004085.3 NP_004076.1 O60220 TIM8A_HUMAN translocase of inner mitochondrial membrane 8 homolog A (yeast) 87 nervous system development|protein import into mitochondrial inner membrane|transmembrane transport mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex protein binding endometrium(1)|lung(1) 2 AACTGGCTTGGATTTCTGGGT 0.448000 56 105 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157559020 157559020 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:157559020T>C ENST00000271532.1 - 3 416 c.281A>G c.(280-282)aAc>aGc p.N94S FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 94 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GCGCACAGGGTTACTTCGTGG 0.498000 17 28 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158238851 158238851 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:158238851C>T ENST00000296526.7 + 5 1033 c.708C>T c.(706-708)atC>atT p.I236I GRIA2_ENST00000449365.1_Silent_p.I189I|GRIA2_ENST00000393815.2_Silent_p.I189I|GRIA2_ENST00000264426.9_Silent_p.I236I|GRIA2_ENST00000507898.1_Silent_p.I189I NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 236 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ACCACTACATCATTGCAAATC 0.249000 6 14 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118239074 118239074 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:118239074G>A ENST00000402510.2 - 7 948 c.949C>T c.(949-951)Cca>Tca p.P317S NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 317 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 ATAACAGGTGGGATGATGCTG 0.428000 41 40 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50248503 50248503 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:50248503C>T ENST00000246801.3 - 7 1225 c.1143G>A c.(1141-1143)cgG>cgA p.R381R TSKS_ENST00000358830.3_Silent_p.R181R NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 381 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCTGCAAGTCCCGCGCCGTCT 0.687000 4 32 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117044002 117044002 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:117044002C>T ENST00000371876.1 - 4 2896 c.475G>A c.(475-477)Gaa>Aaa p.E159K KLHL13_ENST00000371882.1_Missense_Mutation_p.E159K|KLHL13_ENST00000539496.1_Missense_Mutation_p.E213K|KLHL13_ENST00000540167.1_Missense_Mutation_p.E194K|KLHL13_ENST00000541812.1_Missense_Mutation_p.E194K|KLHL13_ENST00000469946.1_Missense_Mutation_p.E159K|KLHL13_ENST00000545703.1_Missense_Mutation_p.E168K|KLHL13_ENST00000262820.3_Missense_Mutation_p.E210K|KLHL13_ENST00000371878.1_Missense_Mutation_p.E159K Q9P2N7 KLH13_HUMAN kelch-like family member 13 210 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TTATCCACTTCGGTTAGATTG 0.388000 20 40 0 0 1 0 0 ACY3 91703 broad.mit.edu 37 11 67412787 67412787 + Missense_Mutation SNP T T C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:67412787T>C ENST00000255082.3 - 5 667 c.497A>G c.(496-498)aAc>aGc p.N166S ACY3_ENST00000529256.1_Missense_Mutation_p.N45S NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 166 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) AGAGTCCAGGTTGTAGCTCTC 0.667000 8 14 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50944443 50944443 + Missense_Mutation SNP T T A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:50944443T>A ENST00000374103.4 - 21 2799 c.2714A>T c.(2713-2715)cAg>cTg p.Q905L OGDHL_ENST00000419399.1_Missense_Mutation_p.Q848L|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.Q696L NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 905 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CTCCAGGTCCTGGCTGCTCCG 0.632000 34 15 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75097465 75097465 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:75097465C>T ENST00000326665.5 - 7 969 c.751G>A c.(751-753)Gaa>Aaa p.E251K C1orf173_ENST00000420661.2_Missense_Mutation_p.E54K NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 251 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 CTCCATGTTTCAGATCTATTT 0.368000 15 19 0 0 1 0 0 CCKAR 886 broad.mit.edu 37 4 26487354 26487354 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:26487354G>A ENST00000295589.3 - 3 725 c.531C>T c.(529-531)ccC>ccT p.P177P NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 177 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) TGCTATAAATGGGGTACGGAG 0.473000 17 26 0 0 1 0 0 SF1 7536 broad.mit.edu 37 11 64533498 64533498 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:64533498G>A ENST00000377390.3 - 13 2049 c.1712C>T c.(1711-1713)cCc>cTc p.P571L SF1_ENST00000227503.9_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000377394.3_Intron|SF1_ENST00000433274.2_Missense_Mutation_p.P545L|SF1_ENST00000422298.2_Intron|SF1_ENST00000334944.5_Missense_Mutation_p.P571L NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 571 Pro-rich. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 CTGGACCCCGGGGGGCAGGGG 0.726000 11 15 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238280866 238280866 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:238280866C>T ENST00000295550.4 - 9 4246 c.3794G>A c.(3793-3795)gGc>gAc p.G1265D COL6A3_ENST00000472056.1_Missense_Mutation_p.G658D|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1059D|COL6A3_ENST00000392003.2_Missense_Mutation_p.G858D|COL6A3_ENST00000392004.3_Missense_Mutation_p.G1059D|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1059D|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1064D|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1065D NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1265 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGTGTCAAAGCCCACGTCCAG 0.582000 13 5 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121643802 121643802 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:121643802C>T ENST00000489711.1 + 13 1434 c.1046C>T c.(1045-1047)cCc>cTc p.P349L SLC15A2_ENST00000295605.2_Missense_Mutation_p.P318L NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 349 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GTTCTAAATCCCCTTCTGGTT 0.388000 25 67 0 0 1 0 0 CPXCR1 53336 broad.mit.edu 37 X 88009102 88009102 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:88009102C>T ENST00000276127.4 + 3 946 c.687C>T c.(685-687)ttC>ttT p.F229F CPXCR1_ENST00000373111.1_Silent_p.F229F NM_033048.5 NP_149037.4 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 229 intracellular zinc ion binding NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 AATGTAGATTCCGTGCTATTG 0.378000 5 16 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19230350 19230350 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:19230350G>A ENST00000263200.10 - 4 701 c.629C>T c.(628-630)gCc>gTc p.A210V CLTCL1_ENST00000427926.1_Missense_Mutation_p.A210V|CLTCL1_ENST00000353891.5_Missense_Mutation_p.A210V NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 210 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) GGCAGGCTTGGCATTCCCCTC 0.507000 T ? ALCL 25 26 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119028186 119028186 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:119028186G>A ENST00000328252.3 + 8 3152 c.2783G>A c.(2782-2784)gGa>gAa p.G928E PAPPA_ENST00000534838.1_5'UTR NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 928 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ACTATTTCAGGAACTGAAGAG 0.388000 19 3 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10705065 10705065 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:10705065G>A ENST00000377022.3 - 18 4094 c.3777C>T c.(3775-3777)ctC>ctT p.L1259L RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1259 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TGTGCCAGGGGAGCTTGGTGG 0.602000 36 58 0 0 1 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307312 39307312 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:39307312A>T ENST00000541347.1 - 2 928 c.689T>A c.(688-690)aTt>aAt p.I230N CX3CR1_ENST00000399220.2_Missense_Mutation_p.I230N|CX3CR1_ENST00000358309.3_Missense_Mutation_p.I262N|CX3CR1_ENST00000542107.1_Missense_Mutation_p.I230N NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 230 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) GATCAGTTTAATGGCTTTGGC 0.443000 19 31 0 0 1 0 0 LOC653786 653786 broad.mit.edu 37 16 22588019 22588019 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:22588019C>T ENST00000550753.1 + 0 2494 NR_003676.2 CTGAGCACATCGTCCTGTGTT 0.572000 10 45 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47629209 47629209 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:47629209G>A ENST00000546455.1 + 4 1094 c.363G>A c.(361-363)atG>atA p.M121I PCED1B_ENST00000432328.1_Missense_Mutation_p.M121I PC-esterase domain containing 1B TGGTCATCATGAATTCCTGCC 0.572000 53 61 0 0 1 0 0 FOXR2 139628 broad.mit.edu 37 X 55650822 55650822 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:55650822C>T ENST00000339140.3 + 1 990 c.678C>T c.(676-678)ttC>ttT p.F226F NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 226 embryo development|organ development|pattern specification process|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 biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 GACAGCATTTCCCCTTTTTCT 0.507000 19 35 0 0 1 0 0 C17orf70 80233 broad.mit.edu 37 17 79512820 79512820 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:79512820G>A ENST00000537152.1 - 6 2334 c.1809C>T c.(1807-1809)atC>atT p.I603I C17orf70_ENST00000327787.8_Silent_p.I754I|C17orf70_ENST00000425898.2_Silent_p.I403I NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 754 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CCACTCCCTGGATGGAAGATA 0.642000 9 5 0 0 1 0 0 LRRC14 9684 broad.mit.edu 37 8 145746708 145746708 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:145746708C>T ENST00000292524.1 + 4 1474 c.1328C>T c.(1327-1329)cCt>cTt p.P443L LRRC14_ENST00000529022.1_Missense_Mutation_p.P443L NM_001272036.1|NM_014665.2 NP_001258965.1|NP_055480.1 Q15048 LRC14_HUMAN leucine rich repeat containing 14 443 endometrium(1)|lung(3)|prostate(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGGCCGCCGCCTGCCTCTGTC 0.627000 20 23 0 0 1 0 0 KCNJ9 3765 broad.mit.edu 37 1 160054455 160054455 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:160054455C>T ENST00000368088.3 + 2 877 c.635C>T c.(634-636)tCg>tTg p.S212L NM_004983.2 NP_004974.2 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel, subfamily J, member 9 212 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTCATCCGCTCGCGCCAGACG 0.682000 4 7 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408375 29408375 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:29408375G>A ENST00000444197.2 + 1 1293 c.583G>A c.(583-585)Gaa>Aaa p.E195K OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CTCGCTTAATGAACTGCAGAT 0.562000 57 132 0 0 1 0 0 PHLDB3 653583 broad.mit.edu 37 19 43979573 43979573 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:43979573G>A ENST00000292140.5 - 16 2272 c.1912C>T c.(1912-1914)Cac>Tac p.H638Y NM_198850.3 NP_942147.3 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, member 3 638 breast(1)|central_nervous_system(1)|lung(5) 7 Prostate(69;0.0153) CAGGGGGCGTGGTTTTCGTCA 0.672000 16 15 0 0 1 0 0 CSH2 1443 broad.mit.edu 37 17 61949525 61949525 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:61949525C>T ENST00000392886.2 - 5 766 c.615G>A c.(613-615)atG>atA p.M205I CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.M148I|CSH2_ENST00000345366.7_Missense_Mutation_p.M110I NM_020991.3 NP_066271.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 205 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 GGCACTGCACCATGCGCAGGA 0.587000 25 58 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154175 22154175 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:22154175C>T ENST00000397126.4 - 4 3809 c.3661G>A c.(3661-3663)Gga>Aga p.G1221R ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GGTTTCTCTCCAGTATGAATT 0.383000 13 27 0 0 1 0 0 ZNF675 171392 broad.mit.edu 37 19 23836719 23836719 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:23836719G>A ENST00000359788.4 - 4 1184 c.1016C>T c.(1015-1017)cCc>cTc p.P339L ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 339 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ACATTTGTAGGGTTTTTCTCC 0.388000 11 22 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125316063 125316063 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr9:125316063C>T ENST00000373688.2 + 1 673 c.615C>T c.(613-615)gcC>gcT p.A205A NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 TGAAGCTTGCCTGCTCAGATA 0.522000 21 21 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139838948 139838948 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:139838948C>T ENST00000303045.6 - 6 1368 c.922G>A c.(922-924)Gaa>Aaa p.E308K COL22A1_ENST00000435777.1_Missense_Mutation_p.E308K NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 308 TSP N-terminal. 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) TACCAGTCTTCCTTCCGAGAG 0.507000 HNSCC(7;0.00092) 19 27 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219874160 219874160 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr2:219874160C>T ENST00000341552.5 - 28 4558 c.4475G>A c.(4474-4476)gGg>gAg p.G1492E CCDC108_ENST00000453220.1_Missense_Mutation_p.G1492E|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.G1492E NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1492 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCCACCACCCCTATCATGGG 0.532000 17 6 0 0 1 0 0 RASGRP2 10235 broad.mit.edu 37 11 64508458 64508458 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:64508458C>T ENST00000377494.1 - 4 1255 c.333G>A c.(331-333)ggG>ggA p.G111G RASGRP2_ENST00000354024.3_Silent_p.G111G|RASGRP2_ENST00000394432.3_Silent_p.G111G|RASGRP2_ENST00000394430.1_Silent_p.G111G|RASGRP2_ENST00000377489.1_Silent_p.G111G|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000377486.3_Silent_p.G111G|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000377497.3_Silent_p.G111G|RASGRP2_ENST00000377487.1_Silent_p.G111G Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 111 N-terminal Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCCGTCGGTTCCCTTCTTGGT 0.577000 OREG0004006 type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 19 19 0 0 1 0 0 TRBV5-7 28608 broad.mit.edu 37 7 142111678 142111678 + RNA SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:142111678C>T ENST00000390378.1 - 0 57 ACTCCAGCGTCCACTGGGCCT 0.557000 18 53 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114179475 114179475 + Missense_Mutation SNP C C T rs144113099 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:114179475C>T ENST00000357077.4 + 13 1347 c.1294C>T c.(1294-1296)Ctc>Ttc p.L432F ANK2_ENST00000506722.1_Missense_Mutation_p.L411F|ANK2_ENST00000264366.6_Missense_Mutation_p.L432F|ANK2_ENST00000394537.3_Missense_Mutation_p.L432F NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 432 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) GCAGTCTGGCCTCACACCAAT 0.488000 21 48 0 0 1 0 0 SLC14A1 6563 broad.mit.edu 37 18 43314342 43314342 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr18:43314342C>T ENST00000321925.4 + 5 677 c.445C>T c.(445-447)Cct>Tct p.P149S SLC14A1_ENST00000586142.1_Missense_Mutation_p.P149S|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P41S|SLC14A1_ENST00000436407.3_Missense_Mutation_p.P205S|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P205S|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P17S|SLC14A1_ENST00000589700.1_Missense_Mutation_p.P149S|SLC14A1_ENST00000402943.2_Missense_Mutation_p.P44S|RP11-116O18.3_ENST00000589510.1_RNA NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 149 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 GCTGTTACTCCCTGTATGTGC 0.428000 16 33 0 0 1 0 0 GSX2 170825 broad.mit.edu 37 4 54968053 54968053 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:54968053C>T ENST00000326902.2 + 2 1193 c.879C>T c.(877-879)gcC>gcT p.A293A GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 293 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) TGTCGCCGGCCTCAGCCAACG 0.662000 6 18 0 0 1 0 0 SERPIND1 3053 broad.mit.edu 37 22 21134401 21134401 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:21134401G>A ENST00000215727.5 + 2 1084 c.801G>A c.(799-801)atG>atA p.M267I PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.M267I|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 267 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) ACCACATCATGAAGCTCACCA 0.433000 89 106 0 0 1 0 0 CRLF2 64109 broad.mit.edu 37 X 1317422 1317422 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:1317422G>A ENST00000381567.3 - 5 642 c.643C>T c.(643-645)Cgg>Tgg p.R215W CRLF2_ENST00000467626.1_Intron NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 215 extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GCATTACCCCGAATCTCGCCT 0.577000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 35 69 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166935656 166935656 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:166935656G>A ENST00000061240.2 + 8 1633 c.986G>A c.(985-987)cGa>cAa p.R329Q TLL1_ENST00000513213.1_Missense_Mutation_p.R329Q|TLL1_ENST00000507499.1_Missense_Mutation_p.R329Q NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 329 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.R329Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ATTGGTCAGCGAACCCGTCTA 0.458000 26 77 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17280787 17280787 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr22:17280787C>T ENST00000331428.5 - 3 565 c.463G>A c.(463-465)Gat>Aat p.D155N NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 155 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) ATGAAATTATCCCGGATTGAG 0.398000 33 66 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103194136 103194136 + Silent SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:103194136A>T ENST00000428762.1 - 39 6099 c.5940T>A c.(5938-5940)ctT>ctA p.L1980L RELN_ENST00000343529.5_Silent_p.L1980L|RELN_ENST00000424685.2_Silent_p.L1980L NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1980 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATGGACAATAAAGACCGATGT 0.363000 5 12 0 0 1 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139700 101139700 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:101139700G>A ENST00000458570.1 - 9 1516 c.186C>T c.(184-186)gcC>gcT p.A62A ZMAT1_ENST00000372782.3_Silent_p.A233A|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.A233A A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 62 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 CTAGTCCTCTGGCTTTCTGCA 0.408000 40 70 0 0 1 0 0 GLYATL2 219970 broad.mit.edu 37 11 58602310 58602310 + Splice_Site SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:58602310C>T ENST00000287275.1 - 6 867 c.476_splice c.e6-1 p.K159_splice GLYATL2_ENST00000532258.1_Splice_Site_p.K159_splice|GLYATL2_ENST00000533636.1_5'UTR NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 159 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) AGTTTCCTTCCCTGTGAAGAA 0.348000 4 14 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44665919 44665919 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr20:44665919C>T ENST00000454036.1 + 6 652 c.576C>T c.(574-576)tcC>tcT p.S192S SLC12A5_ENST00000243964.3_Silent_p.S169S|SLC12A5_ENST00000372315.1_Silent_p.S169S|SLC12A5_ENST00000539566.1_Silent_p.S169S NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 192 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) ACATGATTTCCAGGTCTCTGG 0.597000 16 36 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725539 140725539 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:140725539C>T ENST00000253812.6 + 1 1939 c.1939C>T c.(1939-1941)Cag>Tag p.Q647* PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGCCGTCCAGGACCACGG 0.716000 45 71 0 0 1 0 0 RAB11FIP3 9727 broad.mit.edu 37 16 568977 568977 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:568977C>T ENST00000262305.4 + 10 2063 c.1675C>T c.(1675-1677)Cgg>Tgg p.R559W RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.R263W|RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.R604W NM_014700.3 NP_055515.1 O75154 RFIP3_HUMAN RAB11 family interacting protein 3 (class II) 559 ARF-binding domain (ABD). cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) CAGTGAACTCCGGTCCTGCAC 0.607000 32 81 0 0 1 0 0 THOC2 57187 broad.mit.edu 37 X 122747276 122747276 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:122747276C>T ENST00000245838.8 - 36 4682 c.4651G>A c.(4651-4653)Gat>Aat p.D1551N THOC2_ENST00000355725.4_Missense_Mutation_p.D1551N|THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000491737.1_Missense_Mutation_p.D1436N NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1551 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GAGATTTTATCCATCTTCTCA 0.294000 21 24 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19656009 19656009 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr19:19656009G>A ENST00000586018.1 + 8 2775 c.2673G>A c.(2671-2673)cgG>cgA p.R891R CILP2_ENST00000291495.4_Silent_p.R885R Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 885 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GCAGCCTGCGGGAATGCCAGG 0.677000 24 33 0 0 1 0 0 TBC1D22B 55633 broad.mit.edu 37 6 37281614 37281614 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:37281614C>T ENST00000373491.3 + 10 1258 c.1112C>T c.(1111-1113)cCa>cTa p.P371L NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 371 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) TTTGCACAACCAGGAATCCAG 0.458000 23 97 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6008061 6008061 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:6008061C>T ENST00000332249.4 - 1 154 c.100G>A c.(100-102)Ggg>Agg p.G34R NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGGAATCCCTACCAGGAGA 0.463000 9 13 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81381566 81381566 + Silent SNP C C T rs137853235 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:81381566C>T ENST00000222390.5 - 5 721 c.495G>A c.(493-495)tcG>tcA p.S165S HGF_ENST00000444829.2_Silent_p.S165S|HGF_ENST00000453411.1_Intron|HGF_ENST00000457544.2_Intron|HGF_ENST00000423064.2_Silent_p.S165S NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 165 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CCCGATAGCTCGAAGGCAAAA 0.403000 26 29 0 0 1 0 0 TTI2 80185 broad.mit.edu 37 8 33367358 33367358 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:33367358C>T ENST00000431156.2 - 3 1358 c.740G>A c.(739-741)aGg>aAg p.R247K TTI2_ENST00000520636.1_Missense_Mutation_p.R247K|TTI2_ENST00000360742.5_Missense_Mutation_p.R247K NM_001102401.2 NP_001095871.1 Q6NXR4 CH041_HUMAN TELO2 interacting protein 2 247 binding GGGAAGTACCCTTTCCAGATG 0.473000 15 18 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79742503 79742503 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr10:79742503G>A ENST00000372371.3 - 27 3639 c.3502C>T c.(3502-3504)Cat>Tat p.H1168Y NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1168 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GCCTCACCATGAACAGCCACA 0.532000 20 14 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643028 1643028 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:1643028C>T ENST00000399682.1 - 1 340 c.296G>A c.(295-297)gGg>gAg p.G99E NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 99 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCACAGCCCCCCTTGGAACC 0.682000 26 89 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 10274178 10274178 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:10274178G>A ENST00000396573.2 - 3 400 c.91C>T c.(91-93)Ccc>Tcc p.P31S GRIN2A_ENST00000330684.3_Missense_Mutation_p.P31S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P31S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P31S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P31S NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 31 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGCGCGGGGGGACCCTTCTCC 0.692000 18 30 0 0 1 0 0 EDN1 1906 broad.mit.edu 37 6 12294322 12294322 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:12294322G>A ENST00000379375.5 + 3 649 c.382G>A c.(382-384)Gaa>Aaa p.E128K NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 128 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) AGCAGGAAAAGAACTCAGGTG 0.428000 16 57 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60813480 60813480 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:60813480C>T ENST00000544856.2 - 7 2124 c.1746G>A c.(1744-1746)atG>atA p.M582I MARCH10_ENST00000311269.5_Missense_Mutation_p.M583I|MARCH10_ENST00000456609.2_Missense_Mutation_p.M583I|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.M621I|RP11-156L14.1_ENST00000577270.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 583 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CTTCTGAGTTCATTCTTGATG 0.433000 31 69 0 0 1 0 0 AMY2B 280 broad.mit.edu 37 1 104120425 104120425 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:104120425G>A ENST00000361355.4 + 11 1920 c.1304G>A c.(1303-1305)gGg>gAg p.G435E AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 435 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) GTGGCTTTTGGGAGAGGAAAC 0.363000 58 107 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20249337 20249337 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr14:20249337C>T ENST00000315957.4 + 1 937 c.856C>T c.(856-858)Ccc>Tcc p.P286S NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTACTTAATCCCATTATTTA 0.368000 11 55 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176002137 176002137 + Missense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:176002137G>T ENST00000510636.1 + 8 822 c.548G>T c.(547-549)gGc>gTc p.G183V CDHR2_ENST00000506348.1_Missense_Mutation_p.G183V|CDHR2_ENST00000261944.5_Missense_Mutation_p.G183V NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 183 Cadherin 2. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CTGGCCAATGGCTCCATAGTC 0.622000 26 38 2.48779e-11 2.51912e-11 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34082532 34082532 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:34082532C>T ENST00000373381.4 - 39 6166 c.5990G>A c.(5989-5991)tGg>tAg p.W1997* CSMD2_ENST00000373388.2_Nonsense_Mutation_p.W96*|CSMD2_ENST00000373380.1_Nonsense_Mutation_p.W870*|CSMD2_ENST00000373377.1_Nonsense_Mutation_p.W96* NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1957 CUB 12. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGGGTAGTTCCATCGCCGCAC 0.512000 23 30 0 0 1 0 0 LYSMD2 256586 broad.mit.edu 37 15 52016990 52016990 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr15:52016990C>T ENST00000267838.3 - 2 1116 c.602G>A c.(601-603)aGc>aAc p.S201N LYSMD2_ENST00000454181.2_Missense_Mutation_p.S110N|LYSMD2_ENST00000560491.1_Missense_Mutation_p.S110N|LYSMD2_ENST00000558126.1_Missense_Mutation_p.S94N NM_153374.2 NP_699205.1 Q8IV50 LYSM2_HUMAN LysM, putative peptidoglycan-binding, domain containing 2 201 cell wall macromolecule catabolic process lung(2)|upper_aerodigestive_tract(1) 3 all cancers(107;0.00258) TTCTTACCTGCTCTCTTCTTT 0.413000 18 24 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7942602 7942602 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:7942602G>A ENST00000380183.4 + 1 268 c.129G>A c.(127-129)aaG>aaA p.K43K ALOX15B_ENST00000572022.1_Silent_p.K43K|ALOX15B_ENST00000573359.1_Silent_p.K43K|ALOX15B_ENST00000380173.2_Silent_p.K43K NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 43 PLAT. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 ATCTCGGCAAGGAGTTCACTG 0.652000 27 14 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48696570 48696570 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:48696570G>A ENST00000544264.1 - 1 3778 c.3498C>T c.(3496-3498)agC>agT p.S1166S CELSR3_ENST00000164024.4_Silent_p.S1166S Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1166 Cadherin 8. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGAGCACAGGGCTGTTGTCAT 0.542000 16 40 0 0 1 0 0 FGF5 2250 broad.mit.edu 37 4 81207518 81207518 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr4:81207518C>T ENST00000312465.7 + 3 725 c.499C>T c.(499-501)Caa>Taa p.Q167* FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR NM_004464.3 NP_004455.2 P12034 FGF5_HUMAN fibroblast growth factor 5 167 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 GGAGCGTTTTCAAGAAAATAG 0.403000 37 60 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12626229 12626229 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:12626229G>A ENST00000425538.1 + 5 519 c.319G>A c.(319-321)Gat>Aat p.D107N MYOCD_ENST00000343344.4_Missense_Mutation_p.D107N|MYOCD_ENST00000395988.1_Missense_Mutation_p.D11N NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 107 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ACTCGCCGATGATCTCAATGA 0.458000 52 23 0 0 1 0 0 MRPL37 51253 broad.mit.edu 37 1 54665994 54665994 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr1:54665994G>A ENST00000605337.1 + 1 126 c.78G>A c.(76-78)ccG>ccA p.P26P MRPL37_ENST00000336230.6_5'UTR|MRPL37_ENST00000360840.5_Silent_p.P26P|MRPL37_ENST00000487096.1_Intron Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 26 translation mitochondrial ribosome structural constituent of ribosome NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2) 19 TCGGGGCCCCGAGACGCGGGG 0.687000 32 45 0 0 1 0 0 POU1F1 5449 broad.mit.edu 37 3 87311239 87311239 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr3:87311239C>T ENST00000350375.2 - 4 710 c.586G>A c.(586-588)Gaa>Aaa p.E196K POU1F1_ENST00000344265.3_Missense_Mutation_p.E222K|POU1F1_ENST00000560656.1_Intron NM_000306.2 NP_000297.1 P28069 PIT1_HUMAN POU class 1 homeobox 1 196 POU-specific. negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2) 18 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) TGCTCAGCTTCCTCCAGCCAT 0.378000 25 30 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91699371 91699371 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:91699371G>A ENST00000359028.2 + 28 6619 c.6394G>A c.(6394-6396)Gaa>Aaa p.E2132K AKAP9_ENST00000356239.3_Missense_Mutation_p.E2120K|AKAP9_ENST00000358100.2_Missense_Mutation_p.E2132K Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2132 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCATCTGAAAGAAAAAACAGA 0.328000 T BRAF papillary thyroid 28 48 0 0 1 0 0 ZNF668 79759 broad.mit.edu 37 16 31073159 31073159 + Missense_Mutation SNP A A T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:31073159A>T ENST00000538906.1 - 3 1874 c.1090T>A c.(1090-1092)Ttc>Atc p.F364I ZNF668_ENST00000535577.1_Missense_Mutation_p.F364I|ZNF668_ENST00000426488.2_Missense_Mutation_p.F387I|ZNF668_ENST00000417110.2_Missense_Mutation_p.K116M|ZNF668_ENST00000394983.2_Missense_Mutation_p.F364I|ZNF668_ENST00000539836.3_Missense_Mutation_p.F387I|ZNF668_ENST00000300849.4_Missense_Mutation_p.F364I NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 TCACAGCGGAAGGGCCGCTGG 0.672000 49 70 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92257970 92257970 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:92257970C>T ENST00000298047.6 + 2 3480 c.3463C>T c.(3463-3465)Cct>Tct p.P1155S FAT3_ENST00000409404.2_Missense_Mutation_p.P1155S|FAT3_ENST00000541502.1_Missense_Mutation_p.P1155S|FAT3_ENST00000525166.1_Missense_Mutation_p.P1005S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1155 Cadherin 11. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TATATATTATCCTGTTGTCAT 0.443000 TCGA Ovarian(4;0.039) 9 14 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117216371 117216371 + Splice_Site SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:117216371G>A ENST00000332958.2 + 6 688 c.e6+1 RFX6_ENST00000471966.1_Splice_Site NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 AAAGAATGAGGTAAGAATTAT 0.284000 11 4 0 0 1 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958001 57958001 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:57958001C>T ENST00000311591.3 + 1 96 c.39C>T c.(37-39)ttC>ttT p.F13F NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) CGGAGTTCTTCCTTACTGCAT 0.478000 17 20 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36614459 36614459 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:36614459G>A ENST00000311485.3 - 2 1421 c.1260C>T c.(1258-1260)tgC>tgT p.C420C NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 420 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) CACAAGTAGGGCAGCATGTAA 0.443000 Familial Hemophagocytic Lymphohistiocytosis 28 43 0 0 1 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3788238 3788238 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:3788238G>A ENST00000440314.2 - 6 840 c.367C>T c.(367-369)Cca>Tca p.P123S EFCAB4B_ENST00000252322.1_Missense_Mutation_p.P123S|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.P123S NM_001144958.1 NP_001138430.1 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B 123 activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) TCCTGACTTGGGTTATTCTGG 0.547000 24 17 0 0 1 0 0 C5orf28 64417 broad.mit.edu 37 5 43446390 43446390 + Missense_Mutation SNP G G C TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr5:43446390G>C ENST00000500337.2 - 5 913 c.582C>G c.(580-582)ttC>ttG p.F194L C5orf28_ENST00000512085.1_Missense_Mutation_p.F194L|C5orf28_ENST00000397080.3_Missense_Mutation_p.F194L|C5orf28_ENST00000510130.1_Missense_Mutation_p.F92L|C5orf28_ENST00000511525.1_Intron|C5orf28_ENST00000537319.1_Missense_Mutation_p.F63L Q0VDI3 CE028_HUMAN chromosome 5 open reading frame 28 194 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(5) 9 Lung NSC(6;2.07e-05) AATACATAACGAATGAACAGA 0.388000 17 12 0 0 1 0 0 HLA-DRB6 3128 broad.mit.edu 37 6 32522756 32522756 + RNA DEL A A - TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr6:32522756delA ENST00000411500.1 - 0 458 NR_001298.1 GGACTAGGAGAAAAAAAGGTA 0.517 5 2 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150817 65150817 + RNA DEL C C - TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr7:65150817delC ENST00000430126.2 + 0 757 TCATCCCTCACCCCCCCCCCC 0.468 3 5 --- --- --- --- TRIM55 84675 broad.mit.edu 37 8 67039376 67039376 + Translation_Start_Site DEL A A - TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr8:67039376delA ENST00000315962.4 + 0 246 TRIM55_ENST00000353317.5_De_novo_Start_OutOfFrame|TRIM55_ENST00000276573.7_De_novo_Start_OutOfFrame|TRIM55_ENST00000350034.4_De_novo_Start_OutOfFrame NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GGCCTGAAACAATGTCCTCCA 0.537 2 4 --- --- --- --- CCND1 595 broad.mit.edu 37 11 69465987 69465988 + In_Frame_Ins INS - - GAG rs3830296 TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr11:69465987_69465988insGAG ENST00000227507.2 + 5 1052_1053 c.825_826insGAG c.(823-828)gaagga>gaGAGagga p.275_276EG>ERG NM_053056.2 NP_444284.1 P24385 CCND1_HUMAN cyclin D1 275 Poly-Glu. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1) 23 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) aggaggaggaagaggaggagga 0.703 T """IGH@, FSTL3""" """CLL, B-ALL, breast""" Multiple Myeloma(6;0.086) 14 21 --- --- --- --- KRT83 3889 broad.mit.edu 37 12 52714787 52714789 + In_Frame_Del DEL CTC CTC - TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr12:52714787_52714789delCTC ENST00000293670.3 - 1 393_395 c.331_333delGAG c.(331-333)del p.E111del NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 111 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TCTGCTCCTTCTCCTCCTGCTTC 0.591 51 80 --- --- --- --- IRS2 8660 broad.mit.edu 37 13 110437402 110437402 + Frame_Shift_Del DEL G G - TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr13:110437402delG ENST00000375856.3 - 1 1513 c.999delC c.(997-999)ccfs p.P333fs NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 333 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) CCGTCTGGCTGGGGGGCAGGT 0.766 2 4 --- --- --- --- PAGR1 79447 broad.mit.edu 37 16 29827970 29827971 + Frame_Shift_Ins INS - - CGGC TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr16:29827970_29827971insCGGC ENST00000320330.6 + 1 686_687 c.124_125insCGGC c.(124-126)ggcfs p.G42fs AC009133.20_ENST00000569039.1_RNA NM_024516.3 NP_078792.1 PAXIP1 associated glutamate-rich protein 1 CCCCTCTGCCTCGGCCGGTAAG 0.708 OREG0023722 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 13 --- --- --- --- LUC7L3 51747 broad.mit.edu 37 17 48822077 48822078 + Frame_Shift_Ins INS - - A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chr17:48822077_48822078insA ENST00000505658.1 + 7 785_786 c.596_597insA c.(595-597)tatfs p.Y199fs LUC7L3_ENST00000393227.2_Frame_Shift_Ins_p.Y199fs|LUC7L3_ENST00000544170.1_Frame_Shift_Ins_p.Y123fs|LUC7L3_ENST00000240304.1_Frame_Shift_Ins_p.Y199fs O95232 LC7L3_HUMAN LUC7-like 3 (S. cerevisiae) 199 apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 GGAGCCTTTTTAATAGTAGGAG 0.351 18 34 --- --- --- --- FAM155B 27112 broad.mit.edu 37 X 68725949 68725949 + Frame_Shift_Del DEL A A - TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx CEA01CB3-C933-4ABC-82E8-E051238383ED 9BE2BD0D-64C0-484A-9E16-9DD80FD06420 g.chrX:68725949delA ENST00000252338.4 + 1 866 c.824delA c.(823-825)gafs p.E276fs NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 276 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 TTACAGGCGGAAGAGTACTCA 0.592 3 6 --- --- --- ---