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 MCM3AP 8888 broad.mit.edu 37 21 47697544 47697544 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr21:47697544G>A ENST00000397708.1 - 6 2009 c.1755C>T c.(1753-1755)ctC>ctT p.L585L MCM3AP_ENST00000291688.1_Silent_p.L585L O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 585 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CACATGGCCCGAGGCCCTCGG 0.552000 12 111 0 0 0.002450 0 0 LIN9 286826 broad.mit.edu 37 1 226421074 226421074 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:226421074T>C ENST00000328205.5 - 13 1989 c.1444A>G c.(1444-1446)Agg>Ggg p.R482G LIN9_ENST00000366801.1_Missense_Mutation_p.R431G|LIN9_ENST00000481685.1_Missense_Mutation_p.R447G NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 466 cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) GCTGTAAGCCTGGAAATTAAG 0.368000 3 146 0 0 0.009096 0 0 TAS2R20 259295 broad.mit.edu 37 12 11150362 11150362 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:11150362C>T ENST00000538986.1 - 1 112 c.113G>A c.(112-114)aGa>aAa p.R38K TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176889.2 NP_795370.2 P59543 T2R20_HUMAN taste receptor, type 2, member 20 38 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 GATCTTTTGTCTCTTGACCCA 0.378000 23 46 0 0 0.002780 0 0 SLC12A4 6560 broad.mit.edu 37 16 67979293 67979293 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:67979293C>G ENST00000422611.2 - 21 3056 c.3017G>C c.(3016-3018)cGg>cCg p.R1006P SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R1004P|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R998P|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R956P|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R973P|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R1004P NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 1004 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) CACCAGCTCCCGGAAATTGTC 0.572000 28 58 0 0 0.007291 0 0 DNAH3 55567 broad.mit.edu 37 16 20981224 20981224 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:20981224G>A ENST00000261383.3 - 52 8347 c.8348C>T c.(8347-8349)tCg>tTg p.S2783L DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2783 Stalk (By similarity). 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) CTTCACCAGCGAGATGTCGGC 0.592000 35 86 0 0 0.003271 0 0 OR10R2 343406 broad.mit.edu 37 1 158450344 158450344 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:158450344T>C ENST00000368152.1 + 1 677 c.677T>C c.(676-678)gTa>gCa p.V226A RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) GGAGTTCTTGTACTTGTGGTT 0.413000 26 87 0 0 0.008361 0 0 DNAH2 146754 broad.mit.edu 37 17 7696466 7696466 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:7696466C>T ENST00000572933.1 + 48 8972 c.7512C>T c.(7510-7512)ctC>ctT p.L2504L DNAH2_ENST00000389173.2_Silent_p.L2504L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2504 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGATCCGCCTCTGGATTGACT 0.517000 22 84 0 0 0.014323 0 0 RGP1 9827 broad.mit.edu 37 9 35750328 35750328 + Missense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:35750328C>A ENST00000378078.4 + 3 346 c.205C>A c.(205-207)Cag>Aag p.Q69K RGP1_ENST00000456972.2_Missense_Mutation_p.Q109K NM_001080496.2 NP_001073965.2 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 69 cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGACTCTAGTCAGCCAGATGT 0.612000 9 31 9.05144e-12 1.01146e-11 0.001855 1 0 USP8 9101 broad.mit.edu 37 15 50791262 50791262 + Nonsense_Mutation SNP C C T rs142928952 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:50791262C>T ENST00000433963.1 + 21 3834 c.3334C>T c.(3334-3336)Cga>Tga p.R1112* USP8_ENST00000396444.3_Nonsense_Mutation_p.R1112*|USP8_ENST00000425032.3_Nonsense_Mutation_p.R1006*|USP8_ENST00000307179.4_Nonsense_Mutation_p.R1112* NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 1112 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) ATTGGGACCACGAGTAACTGA 0.368000 12 33 0 0 0.010729 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72055505 72055505 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr14:72055505G>C ENST00000555818.1 + 2 1264 c.916G>C c.(916-918)Gaa>Caa p.E306Q SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E306Q|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E306Q NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 306 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) CAAAGGTGAAGAACTTGGGAA 0.433000 13 47 0 0 0.013537 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88307677 88307677 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:88307677G>C ENST00000357081.3 - 3 228 c.84C>G c.(82-84)atC>atG p.I28M AGTPBP1_ENST00000376081.4_Missense_Mutation_p.I28M|AGTPBP1_ENST00000337006.4_De_novo_Start_InFrame|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.I80M|AGTPBP1_ENST00000376080.1_De_novo_Start_InFrame|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.I28M Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 28 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 GCTCAGCATTGATCTTCTCCA 0.388000 6 25 0 0 0.001168 0 0 NCAPD3 23310 broad.mit.edu 37 11 134072795 134072795 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:134072795A>G ENST00000534548.2 - 13 1595 c.1531T>C c.(1531-1533)Tcc>Ccc p.S511P NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 511 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CTTTGGTAGGAAAAAGCTTTA 0.348000 16 16 0 0 0.004007 0 0 SLC31A1 1317 broad.mit.edu 37 9 116028637 116028637 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:116028637A>G ENST00000374210.6 + 6 716 c.530A>G c.(529-531)gAg>gGg p.E177G CDC26_ENST00000490408.1_Intron O15431 COPT1_HUMAN solute carrier family 31 (copper transporter), member 1 60 integral to plasma membrane copper ion transmembrane transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 ATGATTCAAGAGGCTCTTATG 0.473000 4 5 0 0 0.009096 0 0 ABCC8 6833 broad.mit.edu 37 11 17418492 17418492 + Missense_Mutation SNP C C G rs138642224 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:17418492C>G ENST00000302539.4 - 33 4218 c.4093G>C c.(4093-4095)Gtc>Ctc p.V1365L ABCC8_ENST00000389817.3_Missense_Mutation_p.V1364L NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1364 ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGGCATTGACGTGCTTCAGC 0.612000 11 46 0 0 0.010729 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79067056 79067056 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:79067056G>A ENST00000388820.4 - 12 1996 c.1786C>T c.(1786-1788)Cgc>Tgc p.R596C ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 596 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AAGGAGGGGCGGCCAGCAGGG 0.632000 10 39 0 0 0.006214 0 0 RADIL 55698 broad.mit.edu 37 7 4856042 4856042 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:4856042G>A ENST00000399583.3 - 8 1970 c.1783C>T c.(1783-1785)Cgc>Tgc p.R595C RADIL_ENST00000538469.1_Missense_Mutation_p.R355C|RADIL_ENST00000536091.1_Missense_Mutation_p.A541V NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 595 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CTCTCACGGCGCTCCGTCTGG 0.677000 4 15 0 0 0.009096 0 0 OSBPL2 9885 broad.mit.edu 37 20 60835072 60835072 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr20:60835072G>A ENST00000313733.3 + 3 275 c.73G>A c.(73-75)Gag>Aag p.E25K OSBPL2_ENST00000358053.2_Splice_Site|OSBPL2_ENST00000439951.2_Intron NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 25 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GGAATTTTCAGAGGCAAATCA 0.423000 23 55 0 0 0.004656 0 0 UNC5D 137970 broad.mit.edu 37 8 35583721 35583721 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr8:35583721G>A ENST00000287272.2 + 9 1168 c.1148G>A c.(1147-1149)cGg>cAg p.R383Q UNC5D_ENST00000404895.2_Missense_Mutation_p.R452Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.R457Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.R447Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.R385Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.R28Q Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 452 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) ACAGTGAGCCGGACATACAGC 0.488000 59 62 0 0 0.014410 0 0 TMEM99 147184 broad.mit.edu 37 17 38991082 38991082 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:38991082C>T ENST00000301665.3 + 3 618 c.314C>T c.(313-315)tCg>tTg p.S105L NM_001195386.1|NM_001195387.1|NM_145274.3 NP_001182315.1|NP_001182316.1|NP_660317.2 Q8N816 TMM99_HUMAN transmembrane protein 99 105 integral to membrane cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1) 10 Breast(137;0.000301) GGTGTTGGCTCGTGGTTGCTC 0.468000 62 129 0 0 0.014410 0 0 SLC2A3 6515 broad.mit.edu 37 12 8082459 8082459 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:8082459G>A ENST00000075120.7 - 6 922 c.682C>T c.(682-684)Cgg>Tgg p.R228W NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 228 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) CCCCACAACCGCTGGAGGACT 0.498000 12 89 0 0 0.006122 0 0 UNC13C 440279 broad.mit.edu 37 15 54916087 54916087 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:54916087G>T ENST00000545554.1 + 31 6294 c.6294G>T c.(6292-6294)aaG>aaT p.K2098N UNC13C_ENST00000537900.1_Missense_Mutation_p.K2096N|UNC13C_ENST00000539562.2_Missense_Mutation_p.K19N|UNC13C_ENST00000260323.11_Missense_Mutation_p.K2098N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2098 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GAGACAAGAAGAGAAAACAAG 0.403000 19 45 8.28177e-16 9.37358e-16 0.007413 1 0 CNTN2 6900 broad.mit.edu 37 1 205039107 205039107 + Silent SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:205039107C>A ENST00000331830.4 + 18 2633 c.2349C>A c.(2347-2349)ccC>ccA p.P783P NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 783 Fibronectin type-III 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCTACACGCCCTTTGAGGTCA 0.667000 21 82 1.50039e-11 1.67132e-11 0.012319 1 0 KCTD13 253980 broad.mit.edu 37 16 29918300 29918300 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:29918300C>T ENST00000568000.1 - 6 1884 c.883G>A c.(883-885)Ggg>Agg p.G295R NM_178863.3 NP_849194.1 Q8WZ19 BACD1_HUMAN potassium channel tetramerization domain containing 13 295 cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 7 TCATCCTCCCCGCGGCCAGCC 0.637000 33 80 0 0 0.003271 0 0 BPIFB2 80341 broad.mit.edu 37 20 31606867 31606867 + Splice_Site SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr20:31606867G>A ENST00000170150.3 + 10 1050 c.e10-1 NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 extracellular region lipid binding GCTGATTTCAGAGGTCGGATG 0.572000 44 83 0 0 0.011902 0 0 F13B 2165 broad.mit.edu 37 1 197024886 197024886 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:197024886C>T ENST00000367412.1 - 8 1356 c.1313G>A c.(1312-1314)cGt>cAt p.R438H NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 438 Sushi 7. blood coagulation extracellular region p.R438H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TTGTTCGCAACGAGATATTTT 0.413000 11 53 0 0 0.003163 0 0 DYNC1LI2 1783 broad.mit.edu 37 16 66766353 66766353 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:66766353G>C ENST00000258198.2 - 7 1024 c.818C>G c.(817-819)tCa>tGa p.S273* DYNC1LI2_ENST00000443351.2_Nonsense_Mutation_p.S196*|DYNC1LI2_ENST00000440564.2_Nonsense_Mutation_p.S234*|DYNC1LI2_ENST00000379482.2_Intron NM_006141.2 NP_006132.1 O43237 DC1L2_HUMAN dynein, cytoplasmic 1, light intermediate chain 2 273 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1) 15 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) TTCTTTCACTGATGTGTAAAT 0.378000 11 17 0 0 0.010729 0 0 OBSCN 84033 broad.mit.edu 37 1 228459794 228459794 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:228459794C>T ENST00000570156.2 + 20 5932 c.5858C>T c.(5857-5859)tCg>tTg p.S1953L OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.S425L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 934 Ig-like 19. 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) AGCTCCAGCTCGAAAATGCGT 0.667000 13 72 0 0 0.001855 0 0 DCAF17 80067 broad.mit.edu 37 2 172314572 172314572 + Missense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:172314572C>A ENST00000375255.3 + 7 1046 c.719C>A c.(718-720)aCc>aAc p.T240N DCAF17_ENST00000539783.1_Missense_Mutation_p.T240N|DCAF17_ENST00000468592.1_3'UTR NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 240 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 AGCTTCCAAACCATCGCTGAA 0.388000 81 231 1.21826e-31 1.39683e-31 0.014410 1 0 LIPE 3991 broad.mit.edu 37 19 42912238 42912238 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:42912238A>G ENST00000244289.4 - 4 1822 c.1546T>C c.(1546-1548)Ttt>Ctt p.F516L LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_5'UTR NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 516 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TCGATGGCAAAGCGGCCGCTG 0.627000 14 74 0 0 0.004007 0 0 KCNU1 157855 broad.mit.edu 37 8 36671785 36671785 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr8:36671785G>A ENST00000399881.3 + 8 830 c.793G>A c.(793-795)Gag>Aag p.E265K NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 265 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ATCATATTTTGAGTCAATTTA 0.418000 17 18 0 0 0.004990 0 0 CANT1 124583 broad.mit.edu 37 17 76991155 76991155 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:76991155C>T ENST00000302345.2 - 3 1274 c.780G>A c.(778-780)gaG>gaA p.E260E CANT1_ENST00000591773.1_Silent_p.E260E|CANT1_ENST00000392446.5_Silent_p.E260E NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 260 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) ACACCCAGTTCTCGTGGTCCA 0.652000 T ETV4 prostate 6 13 0 0 0.001168 0 0 NCDN 23154 broad.mit.edu 37 1 36031042 36031042 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:36031042C>T ENST00000373243.2 + 7 2351 c.1968C>T c.(1966-1968)ccC>ccT p.P656P NCDN_ENST00000356090.4_Silent_p.P656P|NCDN_ENST00000373253.3_Silent_p.P639P NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 656 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGCTGGCCCCCGCTGCCCTGC 0.682000 11 20 0 0 0.008291 0 0 COLGALT2 23127 broad.mit.edu 37 1 183938459 183938459 + Missense_Mutation SNP T T G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:183938459T>G ENST00000361927.4 - 5 1147 c.776A>C c.(775-777)gAc>gCc p.D259A COLGALT2_ENST00000546159.1_Missense_Mutation_p.D259A NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 CCAGGTGTAGTCCTGGTGTGG 0.537000 24 71 0 0 0.003330 0 0 LIMS2 55679 broad.mit.edu 37 2 128412466 128412466 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:128412466T>C ENST00000409455.1 - 3 796 c.161A>G c.(160-162)gAa>gGa p.E54G LIMS2_ENST00000545738.2_Missense_Mutation_p.E81G|LIMS2_ENST00000324938.5_Missense_Mutation_p.E83G|LIMS2_ENST00000355119.4_Missense_Mutation_p.E59G|LIMS2_ENST00000410011.1_Missense_Mutation_p.E54G|LIMS2_ENST00000409808.2_Missense_Mutation_p.E54G Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 59 LIM zinc-binding 1. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) CTTCCGGCCTTCAAACTGCAA 0.582000 3 23 0 0 0.004672 0 0 FOLH1 2346 broad.mit.edu 37 11 49229949 49229949 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:49229949G>A ENST00000256999.2 - 1 273 c.13C>T c.(13-15)Ctt>Ttt p.L5F FOLH1_ENST00000356696.3_Missense_Mutation_p.L5F|FOLH1_ENST00000340334.7_5'UTR|FOLH1_ENST00000343844.4_5'UTR NM_004476.1 NP_004467.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 5 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GTTTCGTGAAGGAGATTCCAC 0.701000 3 9 0 0 0.004672 0 0 IRX1 79192 broad.mit.edu 37 5 3600291 3600291 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:3600291C>G ENST00000302006.3 + 2 1281 c.1229C>G c.(1228-1230)cCa>cGa p.P410R 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 CCTGCACCTCCACCACCGCAG 0.701000 15 69 0 0 0.003163 0 0 KIF26B 55083 broad.mit.edu 37 1 245772637 245772637 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:245772637C>G ENST00000366518.4 + 5 682 c.578C>G c.(577-579)tCt>tGt p.S193C KIF26B_ENST00000407071.2_Missense_Mutation_p.S574C Q2KJY2 KI26B_HUMAN kinesin family member 26B 574 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) TGTGCCATCTCTTGGCTCTTC 0.537000 5 12 0 0 0.000602 0 0 SLC19A1 6573 broad.mit.edu 37 21 46957703 46957703 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr21:46957703C>T ENST00000311124.4 - 2 323 c.171G>A c.(169-171)aaG>aaA p.K57K SLC19A1_ENST00000567670.1_Silent_p.K57K|SLC19A1_ENST00000380010.4_Silent_p.K57K NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 57 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GCGTGAAGTTCTTGTCGGGCC 0.687000 7 7 0 0 0.001984 0 0 CCSER1 401145 broad.mit.edu 37 4 91230090 91230090 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:91230090A>G ENST00000509176.1 + 2 943 c.655A>G c.(655-657)Aga>Gga p.R219G CCSER1_ENST00000432775.2_Missense_Mutation_p.R219G|CCSER1_ENST00000333691.8_Missense_Mutation_p.R219G NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 GTACCAAGAGAGAGAACCTGT 0.408000 12 30 0 0 0.010729 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3669239 3669239 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr20:3669239C>T ENST00000344754.4 - 21 5097 c.5098G>A c.(5098-5100)Gag>Aag p.E1700K SIGLEC1_ENST00000202578.4_Silent_p.V1675V NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1700 cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GTTGAGGTCTCACATGTGGCT 0.612000 5 18 0 0 0.000602 0 0 COL3A1 1281 broad.mit.edu 37 2 189864617 189864617 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:189864617C>G ENST00000304636.3 + 32 2449 c.2279C>G c.(2278-2280)cCa>cGa p.P760R COL3A1_ENST00000317840.5_Missense_Mutation_p.P760R NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 760 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AAAGATGGCCCAAGGGTGAGT 0.438000 3 19 0 0 0.009096 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432019 117432019 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:117432019G>C ENST00000160373.3 - 4 1322 c.1231C>G c.(1231-1233)Caa>Gaa p.Q411E NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 411 Pro-rich. 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) CCTGGTGTTTGAGCGGTGGGA 0.522000 34 115 0 0 0.013726 0 0 MAP1LC3B2 643246 broad.mit.edu 37 12 117013807 117013807 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:117013807C>G ENST00000306985.4 + 2 214 c.60C>G c.(58-60)gtC>gtG p.V20V MAP1LC3B2_ENST00000556529.1_Silent_p.V20V NM_001085481.1 NP_001078950.1 A6NCE7 MP3B2_HUMAN microtubule-associated protein 1 light chain 3 beta 2 20 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule breast(1)|large_intestine(2)|lung(3) 6 TAGAAGATGTCCGACTTATTC 0.537000 17 96 0 0 0.004007 0 0 COLEC12 81035 broad.mit.edu 37 18 335145 335145 + Missense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr18:335145C>A ENST00000400256.3 - 6 1620 c.1413G>T c.(1411-1413)gaG>gaT p.E471D NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 471 Collagen-like 1. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GCTCCCCCTTCTCTCCTTTCT 0.632000 14 42 0.00185496 0.0020029 0.001855 1 0 ANO4 121601 broad.mit.edu 37 12 101504254 101504254 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:101504254A>G ENST00000392979.3 + 22 2478 c.2117A>G c.(2116-2118)aAc>aGc p.N706S ANO4_ENST00000550015.1_Missense_Mutation_p.N261S|ANO4_ENST00000299222.9_Missense_Mutation_p.N261S|ANO4_ENST00000392977.3_Missense_Mutation_p.N741S NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 741 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TTACTGAATAACATAATTGAA 0.398000 HNSCC(74;0.22) 3 73 0 0 0.004672 0 0 ZNF711 7552 broad.mit.edu 37 X 84525039 84525039 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:84525039G>C ENST00000360700.4 + 9 2019 c.1133G>C c.(1132-1134)aGa>aCa p.R378T ZNF711_ENST00000395402.1_Missense_Mutation_p.R340T|ZNF711_ENST00000542798.1_Missense_Mutation_p.R174T|ZNF711_ENST00000276123.3_Missense_Mutation_p.R332T|ZNF711_ENST00000373165.3_Missense_Mutation_p.R332T Q9Y462 ZN711_HUMAN zinc finger protein 711 332 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 TTAGAAAGCAGAAGTAGTACA 0.333000 8 30 0 0 0.004482 0 0 CBLL1 79872 broad.mit.edu 37 7 107398754 107398754 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:107398754G>A ENST00000440859.2 + 6 1074 c.607G>A c.(607-609)Gaa>Aaa p.E203K CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.E202K NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 203 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 TGCTTCACTTGAAAATGTTCA 0.458000 57 125 0 0 0.014410 0 0 CREBBP 1387 broad.mit.edu 37 16 3777767 3777767 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:3777767G>A ENST00000262367.5 - 31 8090 c.7281C>T c.(7279-7281)gtC>gtT p.V2427V CREBBP_ENST00000382070.3_Silent_p.V2389V NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 2427 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) TGGTGTCCCCGACCAGGGACA 0.562000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 36 131 0 0 0.006230 0 0 CXXC1 30827 broad.mit.edu 37 18 47810844 47810844 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr18:47810844G>A ENST00000285106.6 - 9 1823 c.1109C>T c.(1108-1110)gCg>gTg p.A370V CXXC1_ENST00000589940.1_Missense_Mutation_p.A370V|CXXC1_ENST00000412036.2_Missense_Mutation_p.A374V NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 370 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 GGGCAGTGACGCAGGGTCCTT 0.597000 13 120 0 0 0.002450 0 0 OR14J1 442191 broad.mit.edu 37 6 29274980 29274980 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:29274980A>G ENST00000377160.2 + 1 578 c.514A>G c.(514-516)Att>Gtt p.I172V NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 GAAGAGAGTCATTCACCAATT 0.478000 42 90 0 0 0.010771 0 0 SLC25A10 1468 broad.mit.edu 37 17 79673961 79673961 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:79673961C>T ENST00000571730.1 + 4 502 c.371C>T c.(370-372)gCg>gTg p.A124V SLC25A10_ENST00000541223.1_Missense_Mutation_p.A124V|MRPL12_ENST00000333676.3_Missense_Mutation_p.A124V Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 0 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) ATCCCCATAGCGAAAGAACGG 0.562000 17 13 0 0 0.006122 0 0 SNCAIP 9627 broad.mit.edu 37 5 121761101 121761101 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:121761101C>G ENST00000261367.7 + 7 2626 c.1198C>G c.(1198-1200)Cta>Gta p.L400V SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L353V|SNCAIP_ENST00000503116.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000504884.2_Missense_Mutation_p.S62C|SNCAIP_ENST00000542191.1_Intron Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 353 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) TGGAAACAATCTATTACATAT 0.428000 55 54 0 0 0.014410 0 0 SUN5 140732 broad.mit.edu 37 20 31590695 31590695 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr20:31590695C>T ENST00000356173.3 - 2 200 c.108G>A c.(106-108)agG>agA p.R36R SUN5_ENST00000375519.2_Silent_p.R36R|SUN5_ENST00000375523.3_Silent_p.R36R NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 36 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 CCTCTGCCATCCTGCTGGTGT 0.527000 19 49 0 0 0.010504 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213277818 213277818 + Silent SNP C C A rs56056039 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:213277818C>A ENST00000366960.3 + 4 435 c.285C>A c.(283-285)atC>atA p.I95I RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000366959.3_Silent_p.I83I|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 95 PX. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AAACTGTTATCGAAGAGAGAA 0.373000 8 50 3.09899e-07 3.41957e-07 0.004482 1 0 PITPNM3 83394 broad.mit.edu 37 17 6373604 6373604 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:6373604G>A ENST00000262483.8 - 13 1836 c.1749C>T c.(1747-1749)gaC>gaT p.D583D ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Silent_p.D547D NM_031220.3 NP_112497.2 AGGCCACCACGTCTGTGGACT 0.652000 5 16 0 0 0.000602 0 0 METTL21C 196541 broad.mit.edu 37 13 103338495 103338495 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr13:103338495G>A ENST00000267273.6 - 4 686 c.681C>T c.(679-681)ttC>ttT p.F227F NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 227 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 AGTCGGTGCTGAACCTGAATT 0.443000 12 42 0 0 0.010729 0 0 ZNF521 25925 broad.mit.edu 37 18 22806343 22806343 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr18:22806343G>C ENST00000361524.3 - 4 1687 c.1539C>G c.(1537-1539)ttC>ttG p.F513L ZNF521_ENST00000584787.1_Missense_Mutation_p.F293L|ZNF521_ENST00000538137.2_Missense_Mutation_p.F513L NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 513 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGGGACAAAAGAATGCATTAC 0.458000 T PAX5 ALL 21 51 0 0 0.008871 0 0 PLCE1 51196 broad.mit.edu 37 10 95791831 95791831 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr10:95791831G>C ENST00000260766.3 + 2 1662 c.1028G>C c.(1027-1029)gGa>gCa p.G343A PLCE1_ENST00000371380.2_Missense_Mutation_p.G343A NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 343 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GTGTATACTGGAACAAGAGCA 0.423000 9 39 0 0 0.004482 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1812845 1812845 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:1812845G>A ENST00000250894.4 + 16 1890 c.1733G>A c.(1732-1734)cGc>cAc p.R578H MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R572H NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 578 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 AGCTTCAGCCGCCTCTTCAGC 0.677000 28 66 0 0 0.004656 0 0 ZNF765 91661 broad.mit.edu 37 19 53912281 53912281 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:53912281G>A ENST00000396408.3 + 4 1590 c.1473G>A c.(1471-1473)caG>caA p.Q491Q ZNF765_ENST00000594030.1_Intron NM_001040185.1 NP_001035275.1 Q7L2R6 ZN765_HUMAN zinc finger protein 765 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) ATACTGGACAGAAACCTTACA 0.378000 13 98 0 0 0.001855 0 0 SIGLEC12 89858 broad.mit.edu 37 19 51994964 51994964 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:51994964C>T ENST00000291707.3 - 8 1774 c.1719G>A c.(1717-1719)gcG>gcA p.A573A SIGLEC12_ENST00000598614.1_Silent_p.A455A NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 573 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) ACTGAGGCCTCGCTTTGTGGA 0.597000 16 159 0 0 0.006122 0 0 AMBP 259 broad.mit.edu 37 9 116823771 116823771 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:116823771G>A ENST00000265132.3 - 8 1048 c.786C>T c.(784-786)ggC>ggT p.G262G NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 262 BPTI/Kunitz inhibitor 1. cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) CCATGCAGCCGCCGTACTGGA 0.577000 24 86 0 0 0.003330 0 0 CECR1 51816 broad.mit.edu 37 22 17662734 17662734 + Missense_Mutation SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:17662734T>A ENST00000399839.1 - 9 1688 c.1418A>T c.(1417-1419)aAa>aTa p.K473I CECR1_ENST00000330232.4_Missense_Mutation_p.K232I|CECR1_ENST00000399837.2_Missense_Mutation_p.K473I|CECR1_ENST00000449907.2_Missense_Mutation_p.K431I|CECR1_ENST00000262607.3_Missense_Mutation_p.K473I Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 473 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) GGCCAGCTGTTTGAGGGTCCT 0.547000 26 50 0 0 0.004656 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564443 176564443 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:176564443G>A ENST00000367662.3 + 3 2867 c.1703G>A c.(1702-1704)aGc>aAc p.S568N PAPPA2_ENST00000367661.3_Missense_Mutation_p.S568N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 568 Metalloprotease. S -> N (in Ref. 2; AAL17780). 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 TGGCAGCTGAGCGTCCACCAG 0.567000 21 81 0 0 0.010504 0 0 ELAVL4 1996 broad.mit.edu 37 1 50610702 50610702 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:50610702A>G ENST00000371824.1 + 2 340 c.83A>G c.(82-84)aAc>aGc p.N28S ELAVL4_ENST00000371819.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000357083.4_Missense_Mutation_p.N45S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.N31S|ELAVL4_ENST00000371823.4_Missense_Mutation_p.N28S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.N28S P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 28 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 TCCAGCAACAACAGAAACTGT 0.418000 12 25 0 0 0.010729 0 0 ZNF630 57232 broad.mit.edu 37 X 47918145 47918145 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:47918145C>G ENST00000276054.4 - 5 2248 c.1314G>C c.(1312-1314)caG>caC p.Q438H ZNF630_ENST00000409324.3_Missense_Mutation_p.Q562H|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.Q548H Q2M218 ZN630_HUMAN zinc finger protein 630 562 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 TATGACCTCTCTGATGTAGAA 0.448000 10 11 0 0 0.008291 0 0 DMD 1756 broad.mit.edu 37 X 31986549 31986549 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:31986549G>C ENST00000357033.4 - 45 6727 c.6521C>G c.(6520-6522)tCa>tGa p.S2174* DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.S2170*|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_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 2174 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) ATCTGTTTTTGAGGATTGCTG 0.458000 23 72 0 0 0.012319 0 0 DLK1 8788 broad.mit.edu 37 14 101201194 101201194 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr14:101201194G>A ENST00000341267.4 + 5 1355 c.1113G>A c.(1111-1113)atG>atA p.M371I DLK1_ENST00000331224.6_Missense_Mutation_p.M298I NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 371 multicellular organismal development extracellular space|integral to membrane|soluble fraction breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) AGATCGACATGACCACCTTCA 0.562000 35 97 0 0 0.004878 0 0 PLEC 5339 broad.mit.edu 37 8 144998292 144998292 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr8:144998292C>T ENST00000322810.4 - 31 6385 c.6216G>A c.(6214-6216)gaG>gaA p.E2072E PLEC_ENST00000354958.2_Silent_p.E1913E|PLEC_ENST00000436759.2_Silent_p.E1962E|PLEC_ENST00000398774.2_Silent_p.E1903E|PLEC_ENST00000354589.3_Silent_p.E1935E|PLEC_ENST00000357649.2_Silent_p.E1939E|PLEC_ENST00000345136.3_Silent_p.E1935E|PLEC_ENST00000527096.1_Silent_p.E1958E|PLEC_ENST00000356346.3_Silent_p.E1921E NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2072 Central fibrous rod domain. 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 CGGCCGCCTTCTCGAAGCTCG 0.701000 15 28 0 0 0.002450 0 0 SCAF4 57466 broad.mit.edu 37 21 33057747 33057747 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr21:33057747G>A ENST00000286835.7 - 18 2642 c.2260C>T c.(2260-2262)Cct>Tct p.P754S SCAF4_ENST00000434667.3_Missense_Mutation_p.P739S|SCAF4_ENST00000399804.1_Missense_Mutation_p.P754S NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 754 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TGAGGAGGAGGAATGGATACT 0.453000 12 63 0 0 0.004990 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 9 169 0 0 0.004482 0 0 OR9A4 130075 broad.mit.edu 37 7 141619579 141619579 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:141619579C>T ENST00000548136.1 + 1 963 c.904C>T c.(904-906)Cgg>Tgg p.R302W MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 302 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) AGAGGCCCTTCGGGATGGGGT 0.423000 21 70 0 0 0.014323 0 0 IRF2BP2 359948 broad.mit.edu 37 1 234745081 234745081 + Nonsense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:234745081C>A ENST00000366609.3 - 1 190 c.160G>T c.(160-162)Gag>Tag p.E54* IRF2BP2_ENST00000366610.3_Nonsense_Mutation_p.E54*|RP4-781K5.2_ENST00000436039.1_RNA NM_182972.2 NP_892017.2 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 54 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) CGCGCCGTCTCGATGACGAAC 0.746000 4 5 0.00116845 0.00126552 0.001168 1 0 HSD3B1 3283 broad.mit.edu 37 1 120057080 120057080 + Nonsense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:120057080C>T ENST00000235547.6 + 4 1079 c.940C>T c.(940-942)Cga>Tga p.R314* HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.R312*|HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.R312* NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 312 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) TTACACCTATCGACCGCCCTT 0.473000 40 118 0 0 0.006230 0 0 XRCC6 2547 broad.mit.edu 37 22 42033722 42033722 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:42033722G>C ENST00000359308.4 + 5 1355 c.700G>C c.(700-702)Gag>Cag p.E234Q XRCC6_ENST00000360079.3_Missense_Mutation_p.E234Q|XRCC6_ENST00000402580.3_Missense_Mutation_p.E193Q|XRCC6_ENST00000428575.2_Missense_Mutation_p.E101Q|XRCC6_ENST00000405878.1_Missense_Mutation_p.E234Q|XRCC6_ENST00000405506.1_Missense_Mutation_p.E184Q P12956 XRCC6_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 6 234 DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 GGTTCACTTTGAGGAATCCAG 0.537000 Non-homologous end-joining 3 18 0 0 0.004672 0 0 BIRC6 57448 broad.mit.edu 37 2 32724766 32724766 + Nonsense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:32724766C>G ENST00000421745.2 + 46 8755 c.8621C>G c.(8620-8622)tCa>tGa p.S2874* NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2874 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ATCACTTGCTCAGACAAAGTA 0.433000 44 123 0 0 0.014410 0 0 ACBD6 84320 broad.mit.edu 37 1 180471273 180471273 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:180471273G>A ENST00000367595.3 - 1 816 c.129C>T c.(127-129)gcC>gcT p.A43A NM_032360.3 NP_115736.1 Q9BR61 ACBD6_HUMAN acyl-CoA binding domain containing 6 43 ACB. cytoplasm|nucleus fatty-acyl-CoA binding ACBD6/RRP15(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 7 CAAACAGCTCGGCCAGGCAAC 0.612000 9 33 0 0 0.004482 0 0 CFP 5199 broad.mit.edu 37 X 47486681 47486681 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:47486681A>G ENST00000247153.3 - 6 866 c.625T>C c.(625-627)Tgc>Cgc p.C209R CFP_ENST00000377005.2_Missense_Mutation_p.C209R|CFP_ENST00000396992.3_Missense_Mutation_p.C209R NM_002621.2 NP_002612.1 P27918 PROP_HUMAN complement factor properdin 209 TSP type-1 3. complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 CCACCGTGGCAGGAGGCTGAG 0.667000 3 14 0 0 0.009096 0 0 KCTD2 23510 broad.mit.edu 37 17 73049121 73049121 + Translation_Start_Site SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:73049121A>T ENST00000581589.1 + 0 446 KCTD2_ENST00000322444.6_Missense_Mutation_p.E154V Q14681 KCTD2_HUMAN potassium channel tetramerization domain containing 2 voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|lung(2) 3 all_lung(278;0.226) GTGCTGGAGGAAGCGGAGTTT 0.463000 20 21 0 0 0.012319 0 0 C17orf74 201243 broad.mit.edu 37 17 7330746 7330746 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:7330746C>T ENST00000333870.3 + 3 1510 c.1436C>T c.(1435-1437)tCa>tTa p.S479L RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 479 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) AGGTCCAGCTCACTGCCACCG 0.632000 13 32 0 0 0.013537 0 0 KCNH8 131096 broad.mit.edu 37 3 19295208 19295208 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:19295208G>A ENST00000328405.2 + 2 405 c.139G>A c.(139-141)Gat>Aat p.D47N NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 47 PAS. integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 CTACTGTTCCGATGGCTTCTG 0.453000 12 103 0 0 0.010729 0 0 TANC1 85461 broad.mit.edu 37 2 160086120 160086120 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:160086120G>A ENST00000263635.6 + 27 4420 c.4183G>A c.(4183-4185)Gag>Aag p.E1395K TANC1_ENST00000454300.1_Missense_Mutation_p.E1289K NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1395 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TGACCTGCAAGAGGCTGTGAA 0.473000 9 40 0 0 0.004482 0 0 MAP2K1 5604 broad.mit.edu 37 15 66782908 66782908 + Silent SNP C C T rs150841154 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:66782908C>T ENST00000307102.5 + 11 1668 c.1137C>T c.(1135-1137)atC>atT p.I379I SNAPC5_ENST00000395589.2_3'UTR|CTD-3185P2.1_ENST00000565387.1_RNA|SNAPC5_ENST00000563480.2_3'UTR|MAP2K1_ENST00000566326.1_Silent_p.I203I NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 379 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 GCTCCACCATCGGCCTTAACC 0.532000 40 82 0 0 0.007835 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476460 140476460 + Silent SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:140476460T>C ENST00000194155.4 + 1 2234 c.2086T>C c.(2086-2088)Ttg>Ctg p.L696L NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 696 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGTGGCGTTGGCCTCGGT 0.697000 52 166 0 0 0.014410 0 0 SHPRH 257218 broad.mit.edu 37 6 146245960 146245960 + Missense_Mutation SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:146245960T>A ENST00000367503.3 - 17 3742 c.3344A>T c.(3343-3345)tAc>tTc p.Y1115F SHPRH_ENST00000275233.7_Missense_Mutation_p.Y1106F|SHPRH_ENST00000438092.2_Missense_Mutation_p.Y1115F|SHPRH_ENST00000367505.2_Missense_Mutation_p.Y1106F NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 1106 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CTTGCTCATGTAGTGCTCTCG 0.408000 23 59 0 0 0.014323 0 0 SPIB 6689 broad.mit.edu 37 19 50925756 50925756 + Nonsense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:50925756G>A ENST00000439922.2 + 3 100 c.20G>A c.(19-21)tGg>tAg p.W7* SPIB_ENST00000596074.1_Silent_p.L26L|SPIB_ENST00000595883.1_Silent_p.L26L|SPIB_ENST00000270632.7_Silent_p.L26L|SPIB_ENST00000597855.1_Silent_p.L26L NM_001243998.1 NP_001230927.1 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 0 TAD1 (Acidic). regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) TCTATGACCTGGACAGCTGCA 0.612000 16 21 0 0 0.006122 0 0 FBXW7 55294 broad.mit.edu 37 4 153332853 153332853 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:153332853G>A ENST00000281708.4 - 2 1332 c.103C>T c.(103-105)Cgt>Tgt p.R35C FBXW7_ENST00000604872.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R35C NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 35 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TCTACCACACGATTCATCTGT 0.507000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 47 90 0 0 0.013114 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899295 112899295 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:112899295G>C ENST00000374530.3 + 8 1651 c.1471G>C c.(1471-1473)Gag>Cag p.E491Q AKAP2_ENST00000259318.7_Missense_Mutation_p.E260Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.E491Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.E349Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.E349Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.E491Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E491Q NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 260 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GGAACATCTGGAGTCGCACAA 0.557000 11 18 0 0 0.013537 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43625502 43625502 + RNA SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:43625502C>G ENST00000586348.1 + 0 45 GGTTTAACCTCTGTAGTAGGT 0.507000 61 148 0 0 0.014410 0 0 SALL1 6299 broad.mit.edu 37 16 51174819 51174819 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:51174819C>T ENST00000440970.1 - 2 1454 c.1023G>A c.(1021-1023)gcG>gcA p.A341A SALL1_ENST00000251020.4_Silent_p.A438A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 438 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A438A(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AAGTACTTTTCGCTTCAAAGG 0.488000 33 95 0 0 0.013726 0 0 IQCG 84223 broad.mit.edu 37 3 197670906 197670906 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:197670906A>G ENST00000265239.6 - 4 449 c.25T>C c.(25-27)Tca>Cca p.S9P IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.S9P|IQCG_ENST00000453254.1_Missense_Mutation_p.S9P NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 9 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GGAAGGTTTGAGTCTTCCAGG 0.408000 3 161 0 0 0.004672 0 0 DTX1 1840 broad.mit.edu 37 12 113496163 113496163 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:113496163G>A ENST00000257600.3 + 1 669 c.166G>A c.(166-168)Gct>Act p.A56T NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 56 WWE 1. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GAAGGAGGACGCTCGCGGTTC 0.647000 35 89 0 0 0.003271 0 0 ASTE1 28990 broad.mit.edu 37 3 130744130 130744130 + Missense_Mutation SNP C C G rs139512239 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:130744130C>G ENST00000264992.3 - 3 462 c.21G>C c.(19-21)atG>atC p.M7I ASTE1_ENST00000514044.1_Missense_Mutation_p.M7I NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 7 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 CCACAAAACTCATTAGTCCTC 0.378000 22 57 0 0 0.003330 0 0 DGKQ 1609 broad.mit.edu 37 4 959304 959304 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:959304G>A ENST00000273814.3 - 14 1666 c.1593C>T c.(1591-1593)tcC>tcT p.S531S DGKQ_ENST00000502309.1_5'UTR NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 531 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TGTGACTCACGGACACCACGG 0.667000 5 18 0 0 0.000602 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582563 136582563 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:136582563C>T ENST00000531224.1 - 12 2849 c.2597G>A c.(2596-2598)cGt>cAt p.R866H BCLAF1_ENST00000527759.1_Missense_Mutation_p.R864H|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R84H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R693H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R817H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R815H|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R815H NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 866 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) AAAAGTACCACGACCTCTTCC 0.408000 25 227 0 0 0.003330 0 0 KIF1B 23095 broad.mit.edu 37 1 10384836 10384836 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:10384836G>A ENST00000377086.1 + 26 2760 c.2558G>A c.(2557-2559)cGa>cAa p.R853Q KIF1B_ENST00000377081.1_Missense_Mutation_p.R853Q|KIF1B_ENST00000263934.6_Missense_Mutation_p.R807Q O60333 KIF1B_HUMAN kinesin family member 1B 853 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GATTTGATGCGAGAGATGTAT 0.463000 20 53 0 0 0.012319 0 0 CASP8 841 broad.mit.edu 37 2 202149644 202149644 + Missense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:202149644A>T ENST00000358485.4 + 8 1281 c.1085A>T c.(1084-1086)gAc>gTc p.D362V CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000432109.2_Missense_Mutation_p.D303V|CASP8_ENST00000323492.7_Missense_Mutation_p.D288V|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.D219V|CASP8_ENST00000264275.5_Missense_Mutation_p.D320V NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 303 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CAACTCATGGACCACAGTAAC 0.473000 HNSCC(4;0.00038) 81 83 0 0 0.014410 0 0 CYP2W1 54905 broad.mit.edu 37 7 1026752 1026752 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:1026752C>T ENST00000340150.6 + 6 683 c.661C>T c.(661-663)Ccc>Tcc p.P221S CYP2W1_ENST00000308919.7_Missense_Mutation_p.P277S Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 277 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GGGGGATGACCCCGAGGGCCT 0.692000 5 7 0 0 0.001168 0 0 TPSD1 23430 broad.mit.edu 37 16 1306640 1306640 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:1306640C>T ENST00000211076.3 + 2 354 c.206C>T c.(205-207)tCc>tTc p.S69F TPSD1_ENST00000397534.2_Missense_Mutation_p.S62F NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 69 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) TGCGGGGGCTCCCTCATCCAC 0.687000 22 57 0 0 0.002780 0 0 FARP1 10160 broad.mit.edu 37 13 99092944 99092944 + Missense_Mutation SNP G G A rs145597966 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr13:99092944G>A ENST00000376586.2 + 25 3079 c.2743G>A c.(2743-2745)Gcg>Acg p.A915T FARP1_ENST00000595437.1_Missense_Mutation_p.A915T|FARP1_ENST00000319562.6_Missense_Mutation_p.A884T Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 884 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TGAAGCCACCGCGGCTGACCA 0.627000 7 64 0 0 0.001984 0 0 CEBPG 1054 broad.mit.edu 37 19 33870422 33870422 + Nonsense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:33870422A>T ENST00000284000.3 + 2 939 c.277A>T c.(277-279)Aga>Tga p.R93* NM_001252296.1|NM_001806.3 NP_001239225.1|NP_001797.1 P53567 CEBPG_HUMAN CCAAT/enhancer binding protein (C/EBP), gamma 93 B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2) 7 Esophageal squamous(110;0.137) CACACTGCAGAGAGTCAATCA 0.438000 9 12 0 0 0.006214 0 0 CPA6 57094 broad.mit.edu 37 8 68334861 68334861 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr8:68334861C>T ENST00000297770.4 - 11 1407 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K CPA6_ENST00000297769.4_Missense_Mutation_p.E154K NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 398 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding p.E398K(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TCACGTAGTTCGAAAGCAAAT 0.383000 38 94 0 0 0.006230 0 0 WSB1 26118 broad.mit.edu 37 17 25628934 25628934 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:25628934G>T ENST00000262394.2 + 2 477 c.161G>T c.(160-162)gGa>gTa p.G54V WSB1_ENST00000581185.1_Missense_Mutation_p.G54V|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000427287.2_Missense_Mutation_p.G23V|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000579733.1_Intron NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 54 intracellular signal transduction intracellular protein binding lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TGGTCACAAGGACATCGCACA 0.413000 35 201 3.76114e-14 4.22978e-14 0.004289 1 0 EPHA5 2044 broad.mit.edu 37 4 66356413 66356413 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:66356413G>C ENST00000273854.3 - 5 1684 c.1084C>G c.(1084-1086)Cgg>Ggg p.R362G EPHA5_ENST00000511294.1_Missense_Mutation_p.R362G|EPHA5_ENST00000354839.4_Missense_Mutation_p.R362G|EPHA5_ENST00000432638.2_Intron NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 362 Fibronectin type-III 1. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ATGGCATTCCGAGGAGCAGAG 0.393000 TSP Lung(17;0.13) 13 37 0 0 0.001855 0 0 ZNF615 284370 broad.mit.edu 37 19 52497522 52497522 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:52497522G>A ENST00000602063.1 - 6 1156 c.807C>T c.(805-807)ttC>ttT p.F269F ZNF615_ENST00000594083.1_Silent_p.F280F|ZNF615_ENST00000598071.1_Silent_p.F280F|ZNF615_ENST00000376716.5_Silent_p.F269F|ZNF615_ENST00000391795.3_Silent_p.F274F Q8N8J6 ZN615_HUMAN zinc finger protein 615 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) ATTTCTTGAGGAAGGTTTTGT 0.413000 24 220 0 0 0.014323 0 0 OBSCN 84033 broad.mit.edu 37 1 228495827 228495827 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:228495827T>C ENST00000570156.2 + 58 15427 c.15353T>C c.(15352-15354)aTt>aCt p.I5118T OBSCN_ENST00000366709.4_Missense_Mutation_p.I1280T|OBSCN_ENST00000366707.4_Missense_Mutation_p.I1795T|OBSCN_ENST00000284548.11_Missense_Mutation_p.I4161T|OBSCN_ENST00000422127.1_Missense_Mutation_p.I4161T NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4161 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) GAGGTGACCATTGTACGGGGG 0.612000 14 68 0 0 0.002450 0 0 PHIP 55023 broad.mit.edu 37 6 79655871 79655871 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:79655871G>C ENST00000275034.4 - 38 4644 c.4477C>G c.(4477-4479)Cag>Gag p.Q1493E PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1493 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CCGTTTATCTGAGCAGCATTG 0.433000 7 89 0 0 0.001984 0 0 PLCE1 51196 broad.mit.edu 37 10 95791784 95791784 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr10:95791784G>C ENST00000260766.3 + 2 1615 c.981G>C c.(979-981)agG>agC p.R327S PLCE1_ENST00000371380.2_Missense_Mutation_p.R327S NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 327 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TGTTAGTCAGGAGATTCTGTA 0.403000 13 60 0 0 0.001855 0 0 MXRA5 25878 broad.mit.edu 37 X 3241681 3241681 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:3241681C>T ENST00000217939.6 - 5 2199 c.2045G>A c.(2044-2046)cGc>cAc p.R682H NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 682 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGCACCTGGGCGTCTGCCTCT 0.532000 27 71 0 0 0.007291 0 0 NKAIN4 128414 broad.mit.edu 37 20 61873937 61873937 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr20:61873937G>A ENST00000370316.3 - 6 660 c.571C>T c.(571-573)Cat>Tat p.H191Y NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370307.2_Missense_Mutation_p.H129Y|NKAIN4_ENST00000370313.1_Intron NM_152864.3 NP_690603.3 Q8IVV8 NKAI4_HUMAN Na+/K+ transporting ATPase interacting 4 191 integral to membrane|plasma membrane endometrium(2)|lung(1)|ovary(1) 4 all_cancers(38;2.72e-09) TCATTGACATGGTAGAGAGGA 0.453000 65 198 0 0 0.014410 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15885127 15885127 + RNA SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:15885127C>T ENST00000587443.2 - 0 295 NR_033864.1 ATGGAGAGATCATCCTTGGGC 0.577000 19 60 0 0 0.008871 0 0 PYGM 5837 broad.mit.edu 37 11 64525340 64525340 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:64525340C>G ENST00000164139.3 - 5 969 c.571G>C c.(571-573)Gag>Cag p.E191Q PYGM_ENST00000377432.3_Missense_Mutation_p.E103Q NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 191 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) CGGGCCTTCTCCCAGGGGTTG 0.607000 18 25 0 0 0.010504 0 0 ME2 4200 broad.mit.edu 37 18 48447048 48447048 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr18:48447048C>G ENST00000321341.5 + 9 1134 c.862C>G c.(862-864)Cta>Gta p.L288V ME2_ENST00000382927.3_Missense_Mutation_p.L288V NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 288 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) TGCAGTAGCTCTAGCAGGTCT 0.348000 40 50 0 0 0.009718 0 0 TRMU 55687 broad.mit.edu 37 22 46752850 46752850 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:46752850G>A ENST00000290846.4 + 11 1553 c.1213G>A c.(1213-1215)Gag>Aag p.E405K TRMU_ENST00000381019.3_Silent_p.*377* NM_018006.4 NP_060476.2 O75648 MTU1_HUMAN tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 405 mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1) 10 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) GATGGCCACTGAGAGCCCCAG 0.632000 15 39 0 0 0.003163 0 0 DCAF15 90379 broad.mit.edu 37 19 14070284 14070284 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:14070284G>A ENST00000254337.6 + 7 1233 c.1212G>A c.(1210-1212)ccG>ccA p.P404P NM_138353.2 NP_612362.2 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 404 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1) 11 GGACGGAGCCGGAGGATGGTG 0.687000 25 49 0 0 0.002780 0 0 PITPNM1 9600 broad.mit.edu 37 11 67267280 67267280 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:67267280T>C ENST00000356404.3 - 8 1310 c.1085A>G c.(1084-1086)gAg>gGg p.E362G PITPNM1_ENST00000436757.2_Missense_Mutation_p.E362G|PITPNM1_ENST00000534749.1_Missense_Mutation_p.E362G NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 362 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 GGGGAAGACCTCCTCACTGTC 0.592000 10 121 0 0 0.008291 0 0 ZNF513 130557 broad.mit.edu 37 2 27601470 27601470 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:27601470C>T ENST00000323703.6 - 3 861 c.663G>A c.(661-663)ctG>ctA p.L221L ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Silent_p.L159L NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 221 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATGCCGCCTCAGGTTGCCCA 0.682000 15 46 0 0 0.004007 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635216 122635216 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:122635216T>C ENST00000249284.2 - 1 538 c.473A>G c.(472-474)gAg>gGg p.E158G NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 158 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGGTAGATGCTCCATGGTGAG 0.383000 13 46 0 0 0.001855 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857127 9857127 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:9857127G>C ENST00000396573.2 - 14 4583 c.4274C>G c.(4273-4275)tCg>tGg p.S1425W GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1425W|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1425W|GRIN2A_ENST00000562109.1_3'UTR NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1425 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 p.S1425L(1) 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) AACATGCTCCGAAATATACAC 0.473000 17 34 0 0 0.004007 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38591744 38591744 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:38591744C>G ENST00000222345.6 + 6 2416 c.1907C>G c.(1906-1908)tCc>tGc p.S636C NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 636 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGCCAGAGCTCCGAGGAGGAG 0.607000 8 28 0 0 0.004482 0 0 SLC27A4 10999 broad.mit.edu 37 9 131115719 131115719 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:131115719G>A ENST00000300456.3 + 9 1340 c.1223G>A c.(1222-1224)cGc>cAc p.R408H SLC27A4_ENST00000372870.1_Intron NM_005094.3 NP_005085.2 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid transporter), member 4 408 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 TTCAATAGCCGCATCCTGTCC 0.617000 4 91 0 0 0.009096 0 0 KL 9365 broad.mit.edu 37 13 33590903 33590903 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr13:33590903C>G ENST00000380099.3 + 1 333 c.325C>G c.(325-327)Ctg>Gtg p.L109V KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 109 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GAACGCCAGTCTGCCGTTGGG 0.711000 4 23 0 0 0.009096 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183044 11183044 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:11183044C>G ENST00000390675.2 - 1 962 c.891G>C c.(889-891)gtG>gtC p.V297V TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 297 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 CCCAGTACCTCACTTGCCGCA 0.428000 48 182 0 0 0.014410 0 0 ZNF443 10224 broad.mit.edu 37 19 12541320 12541320 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:12541320C>T ENST00000301547.5 - 4 1863 c.1666G>A c.(1666-1668)Gga>Aga p.G556R CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 556 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 GGCTTCTCTCCAGAGTGAATT 0.388000 11 49 0 0 0.010729 0 0 KDM7A 80853 broad.mit.edu 37 7 139796488 139796488 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:139796488G>A ENST00000397560.2 - 17 2338 c.2241C>T c.(2239-2241)tcC>tcT p.S747S JHDM1D_ENST00000006967.5_Silent_p.S747S NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 747 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) GTAAACACGTGGAATAGTGCA 0.483000 23 64 0 0 0.003330 0 0 KAL1 3730 broad.mit.edu 37 X 8522000 8522000 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:8522000C>G ENST00000262648.3 - 9 1496 c.1347G>C c.(1345-1347)aaG>aaC p.K449N NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 449 Fibronectin type-III 3. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 TACCTTCTGTCTTCTTCCAGT 0.413000 5 21 0 0 0.001168 0 0 WDR16 146845 broad.mit.edu 37 17 9545105 9545105 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:9545105C>G ENST00000352665.5 + 13 1709 c.1640C>G c.(1639-1641)tCg>tGg p.S547W WDR16_ENST00000299764.5_Missense_Mutation_p.S557W|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000396219.3_Missense_Mutation_p.S479W NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 547 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 CTGTCTGGGTCGATAAATGGC 0.458000 20 71 0 0 0.010504 0 0 SKI 6497 broad.mit.edu 37 1 2160913 2160913 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:2160913C>T ENST00000378536.4 + 1 780 c.708C>T c.(706-708)ctC>ctT p.L236L NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 236 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) TGCCCGAGCTCTACAGCAGCC 0.682000 10 17 0 0 0.006214 0 0 FLT4 2324 broad.mit.edu 37 5 180047255 180047255 + Silent SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:180047255C>A ENST00000261937.6 - 17 2538 c.2460G>T c.(2458-2460)ggG>ggT p.G820G FLT4_ENST00000393347.3_Silent_p.G820G|FLT4_ENST00000502649.1_Silent_p.G820G NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 820 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GAGGCACCTCCCCGGGGTCCA 0.652000 49 48 1.86277e-20 2.12888e-20 0.014410 1 0 RANBP3L 202151 broad.mit.edu 37 5 36265595 36265595 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:36265595G>C ENST00000296604.3 - 5 781 c.296C>G c.(295-297)tCa>tGa p.S99* RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.S124*|RANBP3L_ENST00000515759.1_Nonsense_Mutation_p.S99* NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like 99 intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) CACAAGAGCTGATGTCATAAA 0.299000 6 32 0 0 0.001168 0 0 NRG3 10718 broad.mit.edu 37 10 84745207 84745207 + Missense_Mutation SNP G G T rs150401464 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr10:84745207G>T ENST00000372142.2 + 11 1620 c.1346G>T c.(1345-1347)cGg>cTg p.R449L NRG3_ENST00000372141.2_Missense_Mutation_p.R646L|NRG3_ENST00000556918.1_Missense_Mutation_p.R476L|NRG3_ENST00000537893.1_Missense_Mutation_p.R296L|NRG3_ENST00000545131.1_Missense_Mutation_p.R296L|NRG3_ENST00000404576.2_Missense_Mutation_p.R450L|NRG3_ENST00000404547.1_Missense_Mutation_p.R670L NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 670 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GATGCCAGACGGTCAGAAGAC 0.483000 15 29 2.32078e-09 2.57702e-09 0.003163 1 0 ITGA2 3673 broad.mit.edu 37 5 52351412 52351412 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:52351412C>T ENST00000296585.5 + 8 967 c.824C>T c.(823-825)aCg>aTg p.T275M NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 275 VWFA. axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CGAAGTGCTACGAAAGTAATG 0.373000 15 58 0 0 0.002450 0 0 C4orf33 132321 broad.mit.edu 37 4 130023861 130023861 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:130023861G>A ENST00000281146.4 + 2 817 c.96G>A c.(94-96)atG>atA p.M32I C4orf33_ENST00000425929.1_Missense_Mutation_p.M32I|C4orf33_ENST00000502887.1_Missense_Mutation_p.M32I NM_173487.2 NP_775758.2 Q8N1A6 CD033_HUMAN chromosome 4 open reading frame 33 32 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 10 GAGTGATGATGGACATTAGTG 0.438000 13 48 0 0 0.002450 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011649 46011649 + Missense_Mutation SNP A A C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr21:46011649A>C ENST00000400368.1 - 1 737 c.717T>G c.(715-717)tgT>tgG p.C239W TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 239 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 AGGTGGGCACACAGCACACAG 0.657000 70 197 0 0 0.014410 0 0 PLCE1 51196 broad.mit.edu 37 10 95791437 95791437 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr10:95791437G>T ENST00000260766.3 + 2 1268 c.634G>T c.(634-636)Gat>Tat p.D212Y PLCE1_ENST00000371380.2_Missense_Mutation_p.D212Y NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 212 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity p.D212N(1) liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AATTTTAGACGATTGTGGAAA 0.388000 16 45 1.62849e-17 1.84913e-17 0.004007 1 0 ZNF28 7576 broad.mit.edu 37 19 53303120 53303120 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:53303120C>G ENST00000438150.2 - 2 2712 c.1819G>C c.(1819-1821)Gag>Cag p.E607Q ZNF28_ENST00000457749.2_Missense_Mutation_p.E660Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.E607Q|ZNF28_ENST00000414252.2_Missense_Mutation_p.E607Q P17035 ZNF28_HUMAN zinc finger protein 28 660 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TAAGGTTTCTCTCCACTATGA 0.423000 26 231 0 0 0.003330 0 0 BRWD3 254065 broad.mit.edu 37 X 79980467 79980467 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:79980467C>T ENST00000373275.4 - 15 1702 c.1486G>A c.(1486-1488)Gac>Aac p.D496N NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 496 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GTCCCCCGGTCAAGGTCCCAA 0.388000 8 14 0 0 0.004482 0 0 FAM135B 51059 broad.mit.edu 37 8 139263255 139263255 + Missense_Mutation SNP A A C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr8:139263255A>C ENST00000395297.1 - 6 541 c.371T>G c.(370-372)tTg>tGg p.L124W NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 124 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CACATCCCTCAACCTAGAAGG 0.592000 HNSCC(54;0.14) 42 109 0 0 0.011902 0 0 FGGY 55277 broad.mit.edu 37 1 59812064 59812064 + Silent SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:59812064G>C ENST00000371218.4 + 4 643 c.459G>C c.(457-459)ctG>ctC p.L153L FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Silent_p.L153L|FGGY_ENST00000474476.1_3'UTR NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 153 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TTCTGTGGCTGAAAGAGGTGA 0.498000 9 19 0 0 0.006214 0 0 CKLF 51192 broad.mit.edu 37 16 66597116 66597116 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:66597116G>A ENST00000264001.4 + 3 478 c.329G>A c.(328-330)gGa>gAa p.G110E CKLF_ENST00000362093.4_Intron|CKLF_ENST00000532838.1_Missense_Mutation_p.G57E|CKLF_ENST00000345436.4_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000351137.4_Missense_Mutation_p.G57E|CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000417030.2_Missense_Mutation_p.G110E NM_016951.3 NP_058647.1 chemokine-like factor endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217) ACAGTTGGTGGAGGGGTAAGT 0.368000 8 35 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179474959 179474959 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:179474959C>T ENST00000589042.1 - 271 51518 c.51294G>A c.(51292-51294)atG>atA p.M17098I TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M14530I|TTN_ENST00000342175.6_Missense_Mutation_p.M8225I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M15457I|TTN_ENST00000460472.2_Missense_Mutation_p.M8033I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M8158I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15457 Ig-like 102. 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) TCTCACCAGACATGACTGGTA 0.443000 144 169 0 0 0.014410 0 0 ZNF415 55786 broad.mit.edu 37 19 53612314 53612314 + Nonsense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:53612314G>T ENST00000455735.2 - 7 1448 c.1128C>A c.(1126-1128)taC>taA p.Y376* ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.Y98*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.Y315*|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Y376*|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Y340* Q09FC8 ZN415_HUMAN zinc finger protein 415 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) CTTTACATGTGTAAGGTTTCT 0.398000 40 41 5.71845e-15 6.45159e-15 0.005524 1 0 SLC5A7 60482 broad.mit.edu 37 2 108608589 108608589 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:108608589A>G ENST00000264047.2 + 3 482 c.206A>G c.(205-207)aAt>aGt p.N69S SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Missense_Mutation_p.N69S NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 69 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) GGGTATATCAATGGCACAGCT 0.458000 16 24 0 0 0.004990 0 0 IDUA 3425 broad.mit.edu 37 4 995557 995557 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:995557C>G ENST00000453894.1 + 5 627 c.539C>G c.(538-540)aCc>aGc p.T180S IDUA_ENST00000514224.1_Missense_Mutation_p.T95S|IDUA_ENST00000247933.4_Missense_Mutation_p.T227S P35475 IDUA_HUMAN iduronidase, alpha-L- 227 disaccharide metabolic process lysosome cation binding|L-iduronidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) TCCTTCCACACCCCACCGCGA 0.711000 3 16 0 0 0.009096 0 0 ELP4 26610 broad.mit.edu 37 11 31531473 31531473 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:31531473T>C ENST00000395934.2 + 1 149 c.142T>C c.(142-144)Tcc>Ccc p.S48P ELP4_ENST00000350638.5_Missense_Mutation_p.S48P|ELP4_ENST00000379163.5_Missense_Mutation_p.S48P Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 48 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) TCGACTGGTGTCCATTGCGGG 0.627000 27 59 0 0 0.003954 0 0 C6 729 broad.mit.edu 37 5 41143093 41143093 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:41143093C>G ENST00000263413.3 - 18 2903 c.2639G>C c.(2638-2640)tGt>tCt p.C880S C6_ENST00000337836.5_Missense_Mutation_p.C880S NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 880 C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TAGGCAGACACATTTGGAAGT 0.458000 12 53 0 0 0.013537 0 0 TCN1 6947 broad.mit.edu 37 11 59631479 59631479 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:59631479C>T ENST00000257264.3 - 2 264 c.160G>A c.(160-162)Gct>Act p.A54T TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 54 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACATTGACAGCGCTGGTTCCC 0.418000 45 150 0 0 0.009718 0 0 MARCH4 57574 broad.mit.edu 37 2 217124226 217124226 + Nonsense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:217124226C>A ENST00000273067.4 - 4 2808 c.1042G>T c.(1042-1044)Gaa>Taa p.E348* NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 348 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GTCTCCTCTTCCGAGGAGGGG 0.622000 18 27 5.35267e-07 5.86959e-07 0.007413 1 0 FANCL 55120 broad.mit.edu 37 2 58388764 58388764 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:58388764T>C ENST00000402135.3 - 12 964 c.928A>G c.(928-930)Atg>Gtg p.M310V FANCL_ENST00000403295.3_Missense_Mutation_p.M277V|FANCL_ENST00000233741.4_Missense_Mutation_p.M305V|FANCL_ENST00000403676.1_Missense_Mutation_p.M188V NM_001114636.1 NP_001108108.1 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L 305 DNA repair cytoplasm|nucleoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2) 8 CCACAATCCATAGTAAAATCC 0.333000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 2 19 0 0 0.004672 0 0 CCDC93 54520 broad.mit.edu 37 2 118758500 118758500 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:118758500G>C ENST00000376300.2 - 4 397 c.260C>G c.(259-261)tCa>tGa p.S87* AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA|CCDC93_ENST00000319432.5_Nonsense_Mutation_p.S87* NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 87 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 AATTTTTTCTGACAGAGCTCT 0.463000 14 29 0 0 0.004990 0 0 BAIAP2L1 55971 broad.mit.edu 37 7 97935815 97935815 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:97935815G>A ENST00000005260.8 - 11 1392 c.1177C>T c.(1177-1179)Ccg>Tcg p.P393S NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 393 SH3. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) TACGACGACGGGAACCAACCC 0.572000 25 71 0 0 0.004656 0 0 ECE2 9718 broad.mit.edu 37 3 183994461 183994461 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:183994461C>T ENST00000357474.5 + 2 351 c.232C>T c.(232-234)Cgc>Tgc p.R78C EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Intron|ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron O60344 ECE2_HUMAN endothelin converting enzyme 2 152 Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCCCCACCTCCGCTCCATCTC 0.617000 3 5 0 0 0.009096 0 0 MYH3 4621 broad.mit.edu 37 17 10547749 10547749 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:10547749G>A ENST00000583535.1 - 14 1416 c.1329C>T c.(1327-1329)cgC>cgT p.R443R MYH3_ENST00000226209.7_Silent_p.R443R NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 443 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GCTGGTTAATGCGAGTGACCA 0.398000 22 68 0 0 0.012319 0 0 COCH 1690 broad.mit.edu 37 14 31348691 31348691 + Splice_Site SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr14:31348691G>C ENST00000460581.2 + 4 646 c.100_splice c.e4+1 p.G34_splice RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Splice_Site_p.G146_splice|COCH_ENST00000216361.4_Splice_Site_p.G146_splice|COCH_ENST00000396618.3_Splice_Site_p.G146_splice O43405 COCH_HUMAN cochlin 146 LCCL. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) TCCACCAACAGGTATGAACTA 0.383000 9 58 0 0 0.008291 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276316 15276316 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:15276316C>T ENST00000263388.2 - 31 5753 c.5678G>A c.(5677-5679)cGa>cAa p.R1893Q NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1893 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) AGAGCGGTTTCGGATGAGAAT 0.592000 6 22 0 0 0.001168 0 0 POLR1A 25885 broad.mit.edu 37 2 86267597 86267597 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:86267597C>T ENST00000263857.6 - 25 4036 c.3658G>A c.(3658-3660)Gga>Aga p.G1220R POLR1A_ENST00000409681.1_Missense_Mutation_p.G1220R O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1220 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GAGGGCTCTCCGATGCTCTGG 0.627000 11 41 0 0 0.008291 0 0 C17orf74 201243 broad.mit.edu 37 17 7329885 7329885 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:7329885C>T ENST00000333870.3 + 3 649 c.575C>T c.(574-576)cCc>cTc p.P192L RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Silent_p.A79A NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 192 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) GACAACCTGCCCTTCCCGTAT 0.597000 33 157 0 0 0.013726 0 0 FRAS1 80144 broad.mit.edu 37 4 79403007 79403007 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:79403007C>T ENST00000264895.6 + 57 8933 c.8493C>T c.(8491-8493)ttC>ttT p.F2831F NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2826 Calx-beta 3. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TCTCTACTTTCGCATCTGTCT 0.493000 63 180 0 0 0.014410 0 0 ZNF79 7633 broad.mit.edu 37 9 130206706 130206706 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:130206706C>T ENST00000342483.5 + 5 1133 c.727C>T c.(727-729)Cac>Tac p.H243Y ZNF79_ENST00000543471.1_Missense_Mutation_p.H219Y NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 CCAGAGGATTCACACTGGAGA 0.537000 15 59 0 0 0.002450 0 0 RABGAP1 23637 broad.mit.edu 37 9 125861042 125861042 + Nonsense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:125861042A>T ENST00000373647.4 + 23 2916 c.2782A>T c.(2782-2784)Aaa>Taa p.K928* RABGAP1_ENST00000373643.5_Nonsense_Mutation_p.K267* NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 928 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 ATCTGAGATTAAAAAAAACAG 0.398000 10 30 0 0 0.010729 0 0 SYNE1 23345 broad.mit.edu 37 6 152763311 152763311 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:152763311C>T ENST00000367255.5 - 31 4508 c.3907G>A c.(3907-3909)Gaa>Aaa p.E1303K SYNE1_ENST00000413186.2_Missense_Mutation_p.E1303K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1293K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1303K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1303K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1369K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1303 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) AGCCCCCCTTCTCCCTGCTGC 0.582000 HNSCC(10;0.0054) 18 60 0 0 0.008871 0 0 FLG 2312 broad.mit.edu 37 1 152279854 152279854 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:152279854G>A ENST00000368799.1 - 3 7543 c.7508C>T c.(7507-7509)gCc>gTc p.A2503V FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2503 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) CCCATGGGAGGCATCAGACCT 0.547000 Ichthyosis 183 353 0 0 0.014410 0 0 DOK6 220164 broad.mit.edu 37 18 67365664 67365664 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr18:67365664C>G ENST00000382713.5 + 5 624 c.434C>G c.(433-435)cCt>cGt p.P145R DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 145 IRS-type PTB. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) TATCTTATGCCTACACCAAAC 0.398000 11 37 0 0 0.010729 0 0 STXBP2 6813 broad.mit.edu 37 19 7708073 7708073 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:7708073C>G ENST00000441779.2 + 13 1119 c.1082C>G c.(1081-1083)gCa>gGa p.A361G STXBP2_ENST00000414284.2_Missense_Mutation_p.A347G|STXBP2_ENST00000221283.5_Missense_Mutation_p.A350G NM_001272034.1 NP_001258963.1 Q15833 STXB2_HUMAN syntaxin binding protein 2 350 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 23 CTGCATCTAGCAGATGATTGT 0.587000 9 37 0 0 0.006214 0 0 PLXNA1 5361 broad.mit.edu 37 3 126733043 126733043 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:126733043C>T ENST00000393409.2 + 11 2429 c.2429C>T c.(2428-2430)cCg>cTg p.P810L PLXNA1_ENST00000251772.4_Missense_Mutation_p.P787L NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 810 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TACAAGTGCCCGGCCCTGCGC 0.736000 6 25 0 0 0.001168 0 0 SENP1 29843 broad.mit.edu 37 12 48477537 48477537 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:48477537G>C ENST00000004980.5 - 6 867 c.389C>G c.(388-390)tCa>tGa p.S130* SENP1_ENST00000549518.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000551330.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000448372.1_Nonsense_Mutation_p.S130* Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 130 Ser-rich. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) AAAACTGTTTGATAATCCACT 0.313000 10 37 0 0 0.010729 0 0 NUTM1 256646 broad.mit.edu 37 15 34649168 34649168 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:34649168G>T ENST00000537011.1 + 8 3341 c.2959G>T c.(2959-2961)Ggg>Tgg p.G987W NUTM1_ENST00000438749.3_Missense_Mutation_p.G977W|NUTM1_ENST00000333756.4_Missense_Mutation_p.G959W NUT midline carcinoma, family member 1 TTACACAACTGGGACTCCCAA 0.483000 15 26 4.93089e-13 5.52762e-13 0.002450 1 0 LOC440040 440040 broad.mit.edu 37 11 49831788 49831788 + RNA SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:49831788C>T ENST00000527477.1 + 0 2013 CTGTATTCATCTCTGACCAGA 0.433000 17 202 0 0 0.007413 0 0 SPTBN2 6712 broad.mit.edu 37 11 66488701 66488701 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:66488701G>A ENST00000533211.1 - 3 342 c.11C>T c.(10-12)aCg>aTg p.T4M SPTBN2_ENST00000529997.1_Missense_Mutation_p.T4M|SPTBN2_ENST00000309996.2_Missense_Mutation_p.T4M O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 4 Actin-binding. 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 GGGTGACAGCGTGCTGCTCAT 0.602000 20 125 0 0 0.010504 0 0 YME1L1 10730 broad.mit.edu 37 10 27423860 27423860 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr10:27423860G>A ENST00000326799.3 - 7 910 c.762C>T c.(760-762)ctC>ctT p.L254L YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Silent_p.L164L|YME1L1_ENST00000376016.3_Silent_p.L197L NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 254 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TGGTTTTCATGAGTTTGTCCA 0.393000 14 37 0 0 0.001855 0 0 NIPBL 25836 broad.mit.edu 37 5 37048678 37048678 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:37048678G>C ENST00000282516.8 + 39 7163 c.6664G>C c.(6664-6666)Gat>Cat p.D2222H NIPBL_ENST00000448238.2_Missense_Mutation_p.D2222H NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2222 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TATTTTATCTGATAAGAACTC 0.363000 13 37 0 0 0.001855 0 0 CACNA1D 776 broad.mit.edu 37 3 53757958 53757958 + Missense_Mutation SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:53757958T>A ENST00000288139.3 + 15 2210 c.2092T>A c.(2092-2094)Ttt>Att p.F698I CACNA1D_ENST00000422281.2_Missense_Mutation_p.F678I|CACNA1D_ENST00000350061.5_Missense_Mutation_p.F678I NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 678 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) CAAGTTTAATTTTGATGAAAC 0.463000 15 39 0 0 0.002450 0 0 RALGDS 5900 broad.mit.edu 37 9 135984211 135984211 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:135984211C>T ENST00000393160.3 - 5 815 c.462G>A c.(460-462)tcG>tcA p.S154S RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Silent_p.S197S|RALGDS_ENST00000542690.1_Silent_p.S280S|RALGDS_ENST00000372050.3_Silent_p.S209S|RALGDS_ENST00000372062.3_Silent_p.S180S|RALGDS_ENST00000393157.3_Silent_p.S208S NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 209 N-terminal Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) AGAAATCCTCCGAGTACTGGT 0.647000 T CIITA """PMBL, Hodgkin Lymphona, """ 5 33 0 0 0.000602 0 0 MGAT3 4248 broad.mit.edu 37 22 39883764 39883764 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:39883764G>A ENST00000341184.6 + 2 627 c.412G>A c.(412-414)Gag>Aag p.E138K 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 138 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) GGAGAAGCCTGAGGGGGCCAA 0.741000 4 11 0 0 0.009096 0 0 SLC6A20 54716 broad.mit.edu 37 3 45804560 45804560 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:45804560C>G ENST00000358525.4 - 9 1423 c.1308G>C c.(1306-1308)ctG>ctC p.L436L SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000456124.2_Silent_p.L436L|SLC6A20_ENST00000353278.4_Silent_p.L399L NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 436 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CAAGGCACACCAGACCTGGGG 0.592000 13 55 0 0 0.004007 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318895 21318895 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:21318895C>T ENST00000583088.1 + 3 1136 c.241C>T c.(241-243)Cgg>Tgg p.R81W KCNJ12_ENST00000331718.5_Missense_Mutation_p.R81W NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 p.R81G(1) NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CATCCGCTGGCGGTACATGCT 0.577000 Prostate(3;0.18) 9 89 0 0 0.006214 0 0 NDN 4692 broad.mit.edu 37 15 23932088 23932088 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:23932088G>A ENST00000331837.4 - 1 362 c.277C>T c.(277-279)Cca>Tca p.P93S NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 93 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GCCGGGGCTGGCGGTGCCGGG 0.697000 Prader-Willi syndrome 8 31 0 0 0.006214 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:7578263G>A ENST00000420246.2 - 6 718 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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) CCTTCCACTCGGATAAGATGC 0.552000 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) 12 44 0 0 0.013537 0 0 ZNF300 91975 broad.mit.edu 37 5 150276445 150276445 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:150276445C>T ENST00000446148.2 - 7 831 c.404G>A c.(403-405)gGt>gAt p.G135D ZNF300_ENST00000394226.2_Missense_Mutation_p.G119D|ZNF300_ENST00000274599.5_Missense_Mutation_p.G119D|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.G83D NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCACAATGAACCATCCCTTGT 0.413000 26 24 0 0 0.003330 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495873 6495873 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:6495873G>A ENST00000264071.2 - 4 1008 c.637C>T c.(637-639)Cgc>Tgc p.R213C TUBB4A_ENST00000540257.1_Missense_Mutation_p.R213C P04350 TBB4_HUMAN tubulin, beta 4A class IVa 213 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity TTGAGGGTGCGGAAACAGATG 0.627000 31 105 0 0 0.008361 0 0 MYH11 4629 broad.mit.edu 37 16 15832485 15832485 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:15832485C>T ENST00000338282.6 - 24 3164 c.3058G>A c.(3058-3060)Gaa>Aaa p.E1020K MYH11_ENST00000396324.3_Missense_Mutation_p.E1027K|MYH11_ENST00000452625.2_Missense_Mutation_p.E1027K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1020K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1020K NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1020 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TTGGCCTTTTCTTCCTCTTCT 0.358000 T CBFB AML 12 71 0 0 0.001855 0 0 COG5 10466 broad.mit.edu 37 7 107204296 107204296 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:107204296G>C ENST00000393603.2 - 1 410 c.139C>G c.(139-141)Cga>Gga p.R47G COG5_ENST00000297135.3_Missense_Mutation_p.R47G|COG5_ENST00000347053.3_Missense_Mutation_p.R47G|DUS4L_ENST00000498786.1_Intron NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 47 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 CCAGAGCCTCGAGCTCCGAGG 0.667000 28 50 0 0 0.010818 0 0 SIX6 4990 broad.mit.edu 37 14 60976681 60976681 + Nonsense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr14:60976681A>T ENST00000327720.5 + 1 1013 c.565A>T c.(565-567)Aag>Tag p.K189* NM_007374.2 NP_031400.2 O95475 SIX6_HUMAN SIX homeobox 6 189 organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2) 11 OV - Ovarian serous cystadenocarcinoma(108;0.088) GGCTGCAGCCAAGAACAGGTC 0.647000 6 12 0 0 0.001168 0 0 BCAS1 8537 broad.mit.edu 37 20 52609131 52609131 + Missense_Mutation SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr20:52609131T>A ENST00000371440.3 - 7 1319 c.982A>T c.(982-984)Atc>Ttc p.I328F BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000434986.2_Missense_Mutation_p.I41F|BCAS1_ENST00000395961.3_Intron O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 309 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CTAGCCTGGATCTCGGATGTC 0.453000 8 36 0 0 0.003080 0 0 SSH3 54961 broad.mit.edu 37 11 67077772 67077772 + Nonsense_Mutation SNP G G T rs148598265 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:67077772G>T ENST00000308127.4 + 13 1823 c.1645G>T c.(1645-1647)Gag>Tag p.E549* SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 549 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCCCTCCTTGGAGCTGGAGAG 0.632000 13 188 4.3838e-07 4.82218e-07 0.001855 1 0 DNAH11 8701 broad.mit.edu 37 7 21646281 21646281 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:21646281T>C ENST00000328843.6 + 20 3813 c.3782T>C c.(3781-3783)tTc>tCc p.F1261S DNAH11_ENST00000409508.3_Missense_Mutation_p.F1261S Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1261 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 CAGGCAGAGTTCAGAGAGAGA 0.338000 Kartagener syndrome 3 10 0 0 0.009096 0 0 SLC7A6OS 84138 broad.mit.edu 37 16 68344297 68344297 + Silent SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:68344297A>G ENST00000263997.6 - 2 430 c.412T>C c.(412-414)Ttg>Ctg p.L138L NM_032178.2 NP_115554.2 Q96CW6 S7A6O_HUMAN solute carrier family 7, member 6 opposite strand 138 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) AGGTCTAACAACTGAAAGCCC 0.627000 10 12 0 0 0.006214 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995473 140995473 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:140995473G>A ENST00000285879.4 + 4 2569 c.2283G>A c.(2281-2283)gaG>gaA p.E761E MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 761 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) GTTTCCCTGAGAGTCCTCAGA 0.542000 HNSCC(15;0.026) 82 238 0 0 0.014410 0 0 EPHB6 2051 broad.mit.edu 37 7 142566409 142566409 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:142566409G>A ENST00000392957.2 + 15 2985 c.2198G>A c.(2197-2199)cGg>cAg p.R733Q EPHB6_ENST00000411471.2_Missense_Mutation_p.R456Q|EPHB6_ENST00000442129.1_Missense_Mutation_p.R733Q NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 733 Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity 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) AACATCCTGCGGCTGGAGGGC 0.677000 21 36 0 0 0.010504 0 0 PLCZ1 89869 broad.mit.edu 37 12 18889205 18889205 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:18889205C>G ENST00000266505.7 - 3 348 c.85G>C c.(85-87)Gaa>Caa p.E29Q PLCZ1_ENST00000539875.1_Missense_Mutation_p.E29Q|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E27Q|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E27Q Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 29 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) TCTAATTTTTCAAGTAACCTC 0.353000 8 26 0 0 0.003080 0 0 PRR5L 79899 broad.mit.edu 37 11 36472865 36472865 + Nonsense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:36472865C>G ENST00000378867.3 + 9 1047 c.692C>G c.(691-693)tCa>tGa p.S231* PRR5L_ENST00000530639.1_Nonsense_Mutation_p.S231*|PRR5L_ENST00000311599.5_Nonsense_Mutation_p.S158*|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000389693.3_3'UTR NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 231 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 CGTAGCTTCTCAGGCCCCACG 0.537000 13 37 0 0 0.001855 0 0 ONECUT2 9480 broad.mit.edu 37 18 55143901 55143901 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr18:55143901C>T ENST00000491143.2 + 2 1493 c.1461C>T c.(1459-1461)gaC>gaT p.D487D NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 487 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) AGTGGCAAGACGATCTGAGCA 0.572000 7 35 0 0 0.003080 0 0 ZNF697 90874 broad.mit.edu 37 1 120165638 120165638 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:120165638C>T ENST00000421812.2 - 3 1447 c.1328G>A c.(1327-1329)gGg>gAg p.G443E NM_001080470.1 NP_001073939.1 Q5TEC3 ZN697_HUMAN zinc finger protein 697 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) GAAGCCCTTCCCGCACTCGCG 0.667000 3 6 0 0 0.004672 0 0 PCLO 27445 broad.mit.edu 37 7 82579179 82579179 + Silent SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:82579179T>A ENST00000423517.2 - 6 11062 c.10725A>T c.(10723-10725)acA>acT p.T3575T PCLO_ENST00000333891.8_Silent_p.T3575T|PCLO_ENST00000437081.1_Silent_p.T295T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3506 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAGGACTTTGTGTGTCTGAAT 0.438000 18 48 0 0 0.008871 0 0 C15orf27 123591 broad.mit.edu 37 15 76467994 76467994 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:76467994G>A ENST00000388942.3 + 8 1023 c.747G>A c.(745-747)acG>acA p.T249T RP11-593F23.1_ENST00000558424.1_RNA NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 249 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 AGAGGCTGACGCAGATCTGTC 0.562000 14 55 0 0 0.004007 0 0 TCIRG1 10312 broad.mit.edu 37 11 67816564 67816564 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:67816564C>T ENST00000265686.3 + 15 1798 c.1690C>T c.(1690-1692)Cac>Tac p.H564Y TCIRG1_ENST00000532635.1_Missense_Mutation_p.H348Y NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 564 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 TGGCCAGAGGCACCGGCTGCT 0.657000 23 238 0 0 0.014323 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45926322 45926322 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:45926322C>G ENST00000395629.2 + 9 2130 c.1800C>G c.(1798-1800)gtC>gtG p.V600V MAPK8IP1_ENST00000241014.2_Silent_p.V610V Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 610 PID. 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) CCAGCTGTGTCCTGGAGATCA 0.607000 28 86 0 0 0.004656 0 0 LONRF2 164832 broad.mit.edu 37 2 100916183 100916183 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:100916183C>T ENST00000393437.3 - 5 1902 c.1263G>A c.(1261-1263)aaG>aaA p.K421K LONRF2_ENST00000409647.1_Silent_p.K178K NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 421 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 ACTGACCTTTCTTGGGAATTT 0.408000 22 68 0 0 0.014323 0 0 EP300 2033 broad.mit.edu 37 22 41573028 41573028 + Nonsense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:41573028C>A ENST00000263253.7 + 31 6532 c.5313C>A c.(5311-5313)tgC>tgA p.C1771* RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1771 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CCAAGGGTTGCAAACGGAAAA 0.567000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 9 38 3.86212e-05 4.22194e-05 0.008291 1 0 CTAG2 30848 broad.mit.edu 37 X 153880412 153880412 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:153880412C>T ENST00000369585.3 - 3 586 c.534G>A c.(532-534)caG>caA p.Q178Q CTAG2_ENST00000247306.4_3'UTR NM_172377.3 NP_758965.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 0 centrosome central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 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) CTTAGCGCCTCTGCCCTGAGG 0.602000 22 56 0 0 0.014323 0 0 TMCC3 57458 broad.mit.edu 37 12 94975422 94975422 + Missense_Mutation SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:94975422T>A ENST00000261226.4 - 2 1102 c.971A>T c.(970-972)cAg>cTg p.Q324L TMCC3_ENST00000551457.1_Missense_Mutation_p.Q293L NM_020698.2 NP_065749.2 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 324 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 TTGCAGGGTCTGAGAAATAAA 0.353000 15 50 0 0 0.003163 0 0 VPS13A 23230 broad.mit.edu 37 9 79910535 79910535 + Silent SNP T T G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:79910535T>G ENST00000360280.3 + 33 3845 c.3585T>G c.(3583-3585)acT>acG p.T1195T VPS13A_ENST00000357409.5_Silent_p.T1195T|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.T1195T|VPS13A_ENST00000376636.3_Silent_p.T1156T NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1195 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TGGCTGCTACTGGTGTAAAAG 0.433000 9 50 0 0 0.004482 0 0 LAMA2 3908 broad.mit.edu 37 6 129635848 129635848 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:129635848G>A ENST00000421865.2 + 24 3509 c.3460G>A c.(3460-3462)Gga>Aga p.G1154R NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1154 Laminin EGF-like 13. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGGCAAATTCGGACTCGATGC 0.527000 9 37 0 0 0.006214 0 0 CPSF7 79869 broad.mit.edu 37 11 61188974 61188974 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:61188974G>C ENST00000340437.4 - 3 370 c.290C>G c.(289-291)cCt>cGt p.P97R CPSF7_ENST00000541963.1_Missense_Mutation_p.P54R|CPSF7_ENST00000448745.1_Missense_Mutation_p.P54R|CPSF7_ENST00000439958.3_Missense_Mutation_p.P54R|CPSF7_ENST00000394888.4_Missense_Mutation_p.P54R NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 54 RRM. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 CTGGCGAACAGGAGGAGGTGG 0.522000 19 79 0 0 0.006122 0 0 BFSP1 631 broad.mit.edu 37 20 17475534 17475534 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr20:17475534C>G ENST00000377873.3 - 8 1222 c.1183G>C c.(1183-1185)Gaa>Caa p.E395Q BFSP1_ENST00000544874.1_Missense_Mutation_p.E256Q|BFSP1_ENST00000377868.2_Missense_Mutation_p.E270Q|BFSP1_ENST00000536626.1_Missense_Mutation_p.E256Q NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 395 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 TTTGTGTCTTCCAAACCTTTT 0.413000 48 74 0 0 0.014410 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482313 140482313 + Silent SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:140482313T>C ENST00000231130.2 + 1 2080 c.2080T>C c.(2080-2082)Ttg>Ctg p.L694L NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 694 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) GGTGGTGGCATTGGCCTCGGT 0.687000 10 67 0 0 0.010504 0 0 GLIS3 169792 broad.mit.edu 37 9 3937164 3937164 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:3937164G>A ENST00000324333.10 - 4 1464 c.1271C>T c.(1270-1272)tCa>tTa p.S424L GLIS3_ENST00000381971.3_Missense_Mutation_p.S579L|GLIS3_ENST00000461870.1_5'UTR NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 424 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) TTCAAGCCTTGAAAAGGCCTT 0.458000 9 69 0 0 0.008291 0 0 GDF3 9573 broad.mit.edu 37 12 7842822 7842822 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:7842822C>G ENST00000329913.3 - 2 794 c.747G>C c.(745-747)agG>agC p.R249S NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 249 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TGGCTGCTCTCCTTTTCCGAG 0.537000 20 59 0 0 0.014323 0 0 C7orf33 202865 broad.mit.edu 37 7 148288041 148288041 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:148288041C>G ENST00000307003.2 + 1 385 c.24C>G c.(22-24)ctC>ctG p.L8L NM_145304.2 NP_660347.1 Q8WU49 CG033_HUMAN chromosome 7 open reading frame 33 8 central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2) 14 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TTCAAAGCCTCAGCCTTGAAG 0.537000 10 65 0 0 0.008291 0 0 TNIK 23043 broad.mit.edu 37 3 170802911 170802911 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:170802911G>A ENST00000436636.2 - 25 3338 c.2994C>T c.(2992-2994)gcC>gcT p.A998A TNIK_ENST00000538048.1_Silent_p.A950A|TNIK_ENST00000369326.5_Silent_p.A976A|TNIK_ENST00000488470.1_Silent_p.A943A|TNIK_ENST00000475336.1_Silent_p.A906A|TNIK_ENST00000470834.1_Silent_p.A961A|TNIK_ENST00000357327.5_Silent_p.A969A|TNIK_ENST00000341852.6_Silent_p.A914A|TNIK_ENST00000284483.8_Silent_p.A990A|TNIK_ENST00000460047.1_Silent_p.A935A NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 998 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity p.A998A(2) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GCTTACCTGCGGCTGATGATT 0.483000 3 8 0 0 0.004672 0 0 MKL1 57591 broad.mit.edu 37 22 40815316 40815316 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:40815316G>A ENST00000396617.3 - 12 1716 c.1126C>T c.(1126-1128)Cgc>Tgc p.R376C MKL1_ENST00000407029.1_Missense_Mutation_p.R376C|MKL1_ENST00000355630.3_Missense_Mutation_p.R376C|MKL1_ENST00000402042.1_Missense_Mutation_p.R326C Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 376 SAP. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GCTCGAAGGCGCTCAATCAGC 0.607000 T RBM15 acute megakaryocytic leukemia 8 26 0 0 0.006214 0 0 PPP1R1A 5502 broad.mit.edu 37 12 54975892 54975892 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:54975892G>A ENST00000257905.8 - 5 441 c.271C>T c.(271-273)Cac>Tac p.H91Y PPP1R1A_ENST00000547431.1_Intron NM_006741.3 NP_006732.3 Q13522 PPR1A_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1A 91 glycogen metabolic process|signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity lung(2) 2 TGCCCCAGGTGATGTTCAACC 0.592000 12 27 0 0 0.002450 0 0 TRMU 55687 broad.mit.edu 37 22 46751462 46751462 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:46751462G>C ENST00000290846.4 + 9 1335 c.995G>C c.(994-996)cGa>cCa p.R332P TRMU_ENST00000381019.3_Missense_Mutation_p.R332P NM_018006.4 NP_060476.2 O75648 MTU1_HUMAN tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 332 mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1) 10 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) TGCCACTTCCGATTCCGCCAC 0.642000 OREG0026654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 33 0 0 0.010504 0 0 MNT 4335 broad.mit.edu 37 17 2298449 2298449 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:2298449C>T ENST00000174618.4 - 2 778 c.373G>A c.(373-375)Ggc>Agc p.G125S NM_020310.2 NP_064706.1 Q99583 MNT_HUMAN MAX network transcriptional repressor 125 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 12 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) CCGGGGGCGCCAACCAGGGCC 0.721000 4 7 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179434801 179434801 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:179434801C>G ENST00000589042.1 - 326 76282 c.76058G>C c.(76057-76059)aGa>aCa p.R25353T TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22785T|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16480T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23712T|TTN_ENST00000460472.2_Missense_Mutation_p.R16288T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16413T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23712 Fibronectin type-III 84. 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) CTTATGGCATCTTGTCCATCT 0.423000 3 141 0 0 0.004672 0 0 SLC2A14 144195 broad.mit.edu 37 12 7980270 7980270 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:7980270G>A ENST00000543909.1 - 12 1513 c.754C>T c.(754-756)Cgg>Tgg p.R252W SLC2A14_ENST00000542546.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R229W|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R252W|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R229W|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R267W Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 252 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) CCCCACAACCGCTGGAGGACT 0.507000 7 46 0 0 0.013537 0 0 CERS6 253782 broad.mit.edu 37 2 169417810 169417810 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:169417810C>G ENST00000305747.6 + 3 972 c.385C>G c.(385-387)Ctg>Gtg p.L129V CERS6_ENST00000392687.4_Missense_Mutation_p.L129V NM_203463.2 NP_982288.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 129 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GCCAAGCACGCTGACGAGGTT 0.448000 15 100 0 0 0.004007 0 0 BDNF 627 broad.mit.edu 37 11 27679532 27679532 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:27679532C>T ENST00000525528.1 - 1 1673 c.580G>A c.(580-582)Gaa>Aaa p.E194K BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.E194K|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395981.3_Missense_Mutation_p.E194K|BDNF_ENST00000395983.3_Missense_Mutation_p.E194K|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.E194K|BDNF_ENST00000395986.2_Missense_Mutation_p.E209K|BDNF_ENST00000356660.4_Missense_Mutation_p.E194K|BDNF_ENST00000395978.3_Missense_Mutation_p.E194K|BDNF_ENST00000418212.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.E276K|BDNF_ENST00000420794.1_Missense_Mutation_p.E194K|BDNF_ENST00000314915.6_Missense_Mutation_p.E202K|BDNF_ENST00000395980.2_Missense_Mutation_p.E194K|BDNF_ENST00000533246.1_Missense_Mutation_p.E194K|BDNF_ENST00000533131.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.E194K|BDNF_ENST00000584049.1_5'UTR NM_170735.5 NP_733931.1 P23560 BDNF_HUMAN brain-derived neurotrophic factor 194 extracellular region growth factor activity breast(1)|large_intestine(3)|lung(2) 6 CTGCAGCCTTCTTTTGTGTAA 0.512000 38 108 0 0 0.005524 0 0 RBM34 23029 broad.mit.edu 37 1 235295270 235295270 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:235295270C>G ENST00000408888.3 - 11 1281 c.1051G>C c.(1051-1053)Gaa>Caa p.E351Q RBM34_ENST00000366606.3_Missense_Mutation_p.E346Q|RBM34_ENST00000495224.1_5'UTR P42696 RBM34_HUMAN RNA binding motif protein 34 351 RRM 2. nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) CCCATGAGTTCAGAATTATTT 0.318000 12 43 0 0 0.001855 0 0 LAMA4 3910 broad.mit.edu 37 6 112465999 112465999 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:112465999G>C ENST00000230538.7 - 19 2887 c.2490C>G c.(2488-2490)agC>agG p.S830R LAMA4_ENST00000389463.4_Missense_Mutation_p.S823R|LAMA4_ENST00000424408.2_Missense_Mutation_p.S823R|LAMA4_ENST00000522006.1_Missense_Mutation_p.S823R NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 830 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CAGTTACCTTGCTGGCAACAC 0.512000 21 82 0 0 0.012319 0 0 ALOXE3 59344 broad.mit.edu 37 17 8021162 8021162 + Splice_Site SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:8021162C>T ENST00000380149.1 - 1 645 c.615_splice c.e1+1 p.S205_splice ALOXE3_ENST00000318227.3_Splice_Site_p.S181_splice|ALOXE3_ENST00000448843.2_Splice_Site_p.S49_splice Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 49 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 TTGTACTCACCGATCCAGGGG 0.612000 4 24 0 0 0.000602 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394516 233394516 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:233394516G>A ENST00000258229.8 - 5 1326 c.1092C>T c.(1090-1092)ccC>ccT p.P364P PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 364 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) GTGGGTCTCCGGGTTGAGAAG 0.517000 29 119 0 0 0.005443 0 0 UNC13B 10497 broad.mit.edu 37 9 35403456 35403456 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:35403456C>T ENST00000378495.3 + 38 4572 c.4350C>T c.(4348-4350)ctC>ctT p.L1450L UNC13B_ENST00000396787.1_Silent_p.L1481L|UNC13B_ENST00000378496.4_Silent_p.L1469L NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1450 C2 3. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CCAATGACCTCAAGTGGCAGA 0.532000 27 47 0 0 0.008361 0 0 PUS7 54517 broad.mit.edu 37 7 105098338 105098338 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:105098338G>C ENST00000356362.2 - 16 2099 c.1885C>G c.(1885-1887)Cta>Gta p.L629V PUS7_ENST00000469408.1_Missense_Mutation_p.L629V NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 629 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 GAAGGGGGTAGAGAAAAATCC 0.473000 32 88 0 0 0.010818 0 0 PLCE1 51196 broad.mit.edu 37 10 95791019 95791019 + Silent SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr10:95791019T>C ENST00000260766.3 + 2 850 c.216T>C c.(214-216)atT>atC p.I72I PLCE1_ENST00000371380.2_Silent_p.I72I NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 72 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TGCCAAAGATTCTCTCAATAG 0.393000 14 29 0 0 0.004007 0 0 FREM1 158326 broad.mit.edu 37 9 14848678 14848678 + Missense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:14848678C>A ENST00000380881.4 - 8 2064 c.1249G>T c.(1249-1251)Gta>Tta p.V417L FREM1_ENST00000422223.2_Missense_Mutation_p.V416L|FREM1_ENST00000380880.3_Missense_Mutation_p.V416L Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 416 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTCCAGGATACACGGGGGGCA 0.423000 19 42 1.28384e-07 1.4211e-07 0.012319 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147336299 147336299 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:147336299G>A ENST00000361727.3 + 13 2515 c.1999G>A c.(1999-2001)Gcc>Acc p.A667T NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 667 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.A667T(1) 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) CGTTTACAGCGCCTCCATGGA 0.502000 HNSCC(39;0.1) 18 49 0 0 0.006122 0 0 ST5 6764 broad.mit.edu 37 11 8736175 8736175 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:8736175C>T ENST00000534127.1 - 10 2309 c.1924G>A c.(1924-1926)Gaa>Aaa p.E642K ST5_ENST00000530438.1_Missense_Mutation_p.E222K|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.E114K|ST5_ENST00000357665.1_Missense_Mutation_p.E642K|ST5_ENST00000313726.6_Missense_Mutation_p.E642K|ST5_ENST00000526757.1_Missense_Mutation_p.E222K|ST5_ENST00000526099.1_Missense_Mutation_p.E155K NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 642 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GATGCTGTTTCAATGCTGGAC 0.468000 6 27 0 0 0.001168 0 0 AGPAT1 10554 broad.mit.edu 37 6 32137994 32137994 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:32137994C>G ENST00000395499.1 - 5 1133 c.554G>C c.(553-555)gGc>gCc p.G185A PPT2-EGFL8_ENST00000422437.1_Intron|AGPAT1_ENST00000395497.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000412465.2_Missense_Mutation_p.G73A|AGPAT1_ENST00000395496.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000375104.2_Missense_Mutation_p.G185A|AGPAT1_ENST00000375107.3_Missense_Mutation_p.G185A|AGPAT1_ENST00000336984.6_Missense_Mutation_p.G185A Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 185 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2) 12 CAGCATGGAGCCATTGTGGTT 0.537000 7 12 0 0 0.001984 0 0 PARP14 54625 broad.mit.edu 37 3 122420364 122420364 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:122420364C>T ENST00000474629.2 + 6 3229 c.2963C>T c.(2962-2964)cCg>cTg p.P988L NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 988 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) ACAGCTGCCCCGCCAGGTTTA 0.522000 4 17 0 0 0.000602 0 0 CMTR1 23070 broad.mit.edu 37 6 37411845 37411845 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:37411845C>T ENST00000373451.4 + 3 368 c.204C>T c.(202-204)gaC>gaT p.D68D NM_015050.2 NP_055865.1 Q8N1G2 MTR1_HUMAN 68 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 ACTCTTTTGACGATGCATTCA 0.433000 40 52 0 0 0.007835 0 0 CD19 930 broad.mit.edu 37 16 28948971 28948971 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:28948971G>A ENST00000538922.1 + 11 1461 c.1399G>A c.(1399-1401)Gag>Aag p.E467K CD19_ENST00000567541.1_Missense_Mutation_p.E467K|CD19_ENST00000324662.3_Missense_Mutation_p.E467K NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 467 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 CGAGGATGAAGAGCTGACCCA 0.567000 19 35 0 0 0.006122 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 25 0 0 0.009096 0 0 MYLK3 91807 broad.mit.edu 37 16 46741676 46741676 + Splice_Site SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:46741676C>T ENST00000394809.4 - 13 2516 c.e13-1 MYLK3_ENST00000562104.1_Splice_Site|MYLK3_ENST00000536476.1_Splice_Site NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) AGAAATGTTTCTTGAGGCAAG 0.393000 13 47 0 0 0.001855 0 0 FAM46B 115572 broad.mit.edu 37 1 27332876 27332876 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:27332876G>A ENST00000289166.5 - 2 1002 c.837C>T c.(835-837)ctC>ctT p.L279L NM_052943.3 NP_443175.2 Q96A09 FA46B_HUMAN family with sequence similarity 46, member B 279 breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) AGTACTTGAGGAGGCCACCAC 0.677000 9 18 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179616442 179616442 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:179616442G>A ENST00000360870.5 - 46 10907 c.10685C>T c.(10684-10686)tCt>tTt p.S3562F TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3558 Ig-like 21. 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) TAAGCTGGAAGAGTGATGGTG 0.423000 41 101 0 0 0.007835 0 0 FAT1 2195 broad.mit.edu 37 4 187539252 187539252 + Nonsense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:187539252G>A ENST00000441802.2 - 10 8697 c.8488C>T c.(8488-8490)Cag>Tag p.Q2830* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2830 Cadherin 26. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GCCCTGATCTGAATTACTCTA 0.438000 HNSCC(5;0.00058) 35 72 0 0 0.004289 0 0 EYS 346007 broad.mit.edu 37 6 66204916 66204916 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:66204916G>T ENST00000503581.1 - 4 925 c.388C>A c.(388-390)Cta>Ata p.L130I EYS_ENST00000370621.3_Missense_Mutation_p.L130I|EYS_ENST00000342421.5_Missense_Mutation_p.L130I|EYS_ENST00000370618.3_Missense_Mutation_p.L130I|EYS_ENST00000393380.2_Missense_Mutation_p.L130I|EYS_ENST00000370616.2_Missense_Mutation_p.L130I NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 130 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 ATTCCTTTTAGTCTGCAGCCA 0.393000 11 23 6.40141e-05 6.97615e-05 0.010729 1 0 BCRP7 100133163 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 3 19 0 0 0.004672 0 0 CEP350 9857 broad.mit.edu 37 1 179989427 179989427 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:179989427G>C ENST00000367607.3 + 12 2936 c.2518G>C c.(2518-2520)Gaa>Caa p.E840Q NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 840 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CAGCAGAATTGAAAGTGAAGC 0.448000 57 169 0 0 0.014410 0 0 TRIM26 7726 broad.mit.edu 37 6 30154334 30154334 + Splice_Site SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:30154334C>T ENST00000454678.2 - 10 1375 c.937_splice c.e10-1 p.V313_splice TRIM26_ENST00000437089.1_Splice_Site_p.V313_splice|TRIM26_ENST00000453195.1_Splice_Site_p.V313_splice NM_003449.4 NP_003440.1 Q12899 TRI26_HUMAN tripartite motif containing 26 313 B30.2/SPRY. DNA binding|zinc ion binding lung(1)|ovary(2) 3 GGGTGACGCTCACTGTGGGGA 0.468000 15 41 0 0 0.003163 0 0 USP8 9101 broad.mit.edu 37 15 50774167 50774167 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:50774167G>C ENST00000433963.1 + 12 2208 c.1708G>C c.(1708-1710)Gat>Cat p.D570H USP8_ENST00000396444.3_Missense_Mutation_p.D570H|USP8_ENST00000425032.3_Missense_Mutation_p.D493H|USP8_ENST00000307179.4_Missense_Mutation_p.D570H NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 570 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) ATCTGTAGAAGATAGGGGGAA 0.418000 10 29 0 0 0.006214 0 0 DFNB31 25861 broad.mit.edu 37 9 117266938 117266938 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:117266938C>T ENST00000362057.3 - 1 312 c.144G>A c.(142-144)gcG>gcA p.A48A DFNB31_ENST00000374057.3_Silent_p.A48A NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 48 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CGCTCAGCAGCGCGGTCAGCG 0.746000 8 33 0 0 0.003080 0 0 GPR112 139378 broad.mit.edu 37 X 135431707 135431707 + Missense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:135431707A>T ENST00000394143.1 + 6 6133 c.5842A>T c.(5842-5844)Aac>Tac p.N1948Y GPR112_ENST00000412101.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000394141.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000370652.1_Missense_Mutation_p.N1948Y|GPR112_ENST00000287534.4_Missense_Mutation_p.N1885Y NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1948 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) AATTCTTCCTAACCATGGGCT 0.418000 6 147 0 0 0.001984 0 0 YWHAE 7531 broad.mit.edu 37 17 1303386 1303386 + Translation_Start_Site SNP G G C rs11552915 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:1303386G>C ENST00000571732.1 - 0 128 YWHAE_ENST00000573026.1_Missense_Mutation_p.L7V|YWHAE_ENST00000264335.8_Missense_Mutation_p.L7V|YWHAE_ENST00000575977.1_Missense_Mutation_p.L7V|YWHAE_ENST00000498643.1_5'UTR P62258 1433E_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) TGGTACACCAGATCCTCTCGA 0.662000 T """FAM22a, FAM22B""" edometrial stromal sarcoma Miller-Dieker lissencephaly syndrome 19 99 0 0 0.012319 0 0 LRP1 4035 broad.mit.edu 37 12 57538855 57538855 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:57538855G>A ENST00000243077.3 + 5 1015 c.549G>A c.(547-549)ccG>ccA p.P183P RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000553277.1_Silent_p.P183P|LRP1_ENST00000554174.1_Silent_p.P183P|LRP1_ENST00000338962.4_Silent_p.P183P NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 183 EGF-like 2; calcium-binding (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCCTGCAGCCGGATAACCGCT 0.572000 17 31 0 0 0.004007 0 0 SACS 26278 broad.mit.edu 37 13 23913048 23913048 + Missense_Mutation SNP A A C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr13:23913048A>C ENST00000382298.3 - 10 5555 c.4967T>G c.(4966-4968)gTg>gGg p.V1656G SACS_ENST00000382292.3_Missense_Mutation_p.V1656G|SACS_ENST00000402364.1_Missense_Mutation_p.V906G NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1656 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AACTTCACTCACTTTTGCTTC 0.398000 16 41 0 0 0.004990 0 0 ALLC 55821 broad.mit.edu 37 2 3749215 3749215 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:3749215C>T ENST00000252505.3 + 11 1126 c.964C>T c.(964-966)Cca>Tca p.P322S ALLC_ENST00000471711.1_3'UTR NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 341 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) ACCACTGCTTCCAGTGACCAA 0.488000 HNSCC(21;0.051) 6 13 0 0 0.001168 0 0 LMTK2 22853 broad.mit.edu 37 7 97832936 97832936 + Silent SNP G G A rs146973469 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr7:97832936G>A ENST00000297293.5 + 12 4451 c.4158G>A c.(4156-4158)ccG>ccA p.P1386P NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1386 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CGTGCGGCCCGGACCTGAGCG 0.597000 11 26 0 0 0.010729 0 0 LEPR 3953 broad.mit.edu 37 1 66101886 66101886 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:66101886G>C ENST00000349533.6 + 20 2871 c.2686G>C c.(2686-2688)Gag>Cag p.E896Q LEPR_ENST00000406510.3_5'UTR NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 896 Required for JAK2 activation (By similarity). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AGAAACGTTTGAGCATCTTTT 0.348000 29 95 0 0 0.005443 0 0 TTBK1 84630 broad.mit.edu 37 6 43214425 43214425 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:43214425G>A ENST00000259750.4 + 2 110 c.27G>A c.(25-27)aaG>aaA p.K9K NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 9 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCGCCCTTAAGGACGAAACCA 0.672000 10 34 0 0 0.006214 0 0 LDHC 3948 broad.mit.edu 37 11 18456337 18456337 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:18456337C>T ENST00000541669.1 + 5 580 c.469C>T c.(469-471)Cgt>Tgt p.R157C LDHC_ENST00000280704.4_Missense_Mutation_p.R157C|LDHC_ENST00000546146.1_Missense_Mutation_p.R99C|LDHC_ENST00000544105.1_Missense_Mutation_p.R157C|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.R143C|LDHC_ENST00000535809.1_Missense_Mutation_p.R157C P07864 LDHC_HUMAN lactate dehydrogenase C 157 glycolysis cytoplasm binding|L-lactate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) ACCTGTAACTCGTGTAATTGG 0.368000 40 75 0 0 0.006999 0 0 SHROOM3 57619 broad.mit.edu 37 4 77675521 77675521 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:77675521C>T ENST00000296043.6 + 7 4838 c.3885C>T c.(3883-3885)ctC>ctT p.L1295L NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1295 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TCCACCATCTCACCCCTCGTT 0.542000 41 133 0 0 0.007835 0 0 UNC13B 10497 broad.mit.edu 37 9 35385812 35385812 + Splice_Site SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:35385812T>C ENST00000378495.3 + 22 2940 c.e22+2 UNC13B_ENST00000396787.1_Splice_Site|UNC13B_ENST00000378496.4_Splice_Site NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) AGAATGAAGGTAAGAAATGGA 0.483000 27 97 0 0 0.006320 0 0 ACACB 32 broad.mit.edu 37 12 109673414 109673414 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:109673414G>C ENST00000338432.7 + 33 4527 c.4408G>C c.(4408-4410)Gaa>Caa p.E1470Q ACACB_ENST00000377854.5_Missense_Mutation_p.E1400Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E1470Q|ACACB_ENST00000543201.1_Missense_Mutation_p.E136Q O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1470 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) TTTGCAGAAAGAATTTCCCAA 0.328000 12 20 0 0 0.013537 0 0 ZNF449 203523 broad.mit.edu 37 X 134494925 134494925 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:134494925C>T ENST00000339249.4 + 5 1621 c.1481C>T c.(1480-1482)aCt>aTt p.T494I NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 494 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) TACAAGTGTACTCATTGTTCT 0.393000 92 135 0 0 0.014410 0 0 TRIO 7204 broad.mit.edu 37 5 14406048 14406048 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:14406048A>G ENST00000344204.4 + 32 4832 c.4808A>G c.(4807-4809)gAg>gGg p.E1603G TRIO_ENST00000537187.1_Missense_Mutation_p.E1603G NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1603 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GCCCTGAAGGAGCCCATTCAC 0.577000 10 25 0 0 0.006214 0 0 NIN 51199 broad.mit.edu 37 14 51224285 51224285 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr14:51224285G>A ENST00000245441.5 - 18 3653 c.3463C>T c.(3463-3465)Ctg>Ttg p.L1155L NIN_ENST00000530997.2_Silent_p.L1155L|NIN_ENST00000453196.1_Silent_p.L1155L|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Silent_p.L1155L|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Silent_p.L1155L NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1155 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) GTACTTCCCAGGTCCCGGACC 0.478000 T PDGFRB MPD 23 208 0 0 0.014323 0 0 COL14A1 7373 broad.mit.edu 37 8 121290786 121290786 + Silent SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr8:121290786G>C ENST00000297848.3 + 28 3720 c.3450G>C c.(3448-3450)gtG>gtC p.V1150V COL14A1_ENST00000309791.4_Silent_p.V1150V|COL14A1_ENST00000247781.3_Silent_p.V1055V NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1150 VWFA 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AAGATGATGTGAACAAAATCT 0.353000 18 18 0 0 0.008871 0 0 OTOP1 133060 broad.mit.edu 37 4 4199228 4199228 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr4:4199228C>G ENST00000296358.4 - 5 1357 c.1333G>C c.(1333-1335)Gaa>Caa p.E445Q NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 445 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGAATGGATTCAAAGATGAAG 0.542000 10 62 0 0 0.006214 0 0 TRIP11 9321 broad.mit.edu 37 14 92461767 92461767 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr14:92461767G>A ENST00000267622.4 - 14 5358 c.4985C>T c.(4984-4986)tCt>tTt p.S1662F NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1662 QLSVSQEQ -> RFCLSGT (in Ref. 1; AAD09135). 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) TTGTTCCTGAGAGACAGAAAG 0.458000 T PDGFRB AML 24 23 0 0 0.014323 0 0 DUS3L 56931 broad.mit.edu 37 19 5785684 5785684 + Missense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr19:5785684A>T ENST00000309061.7 - 11 1777 c.1681T>A c.(1681-1683)Tgg>Agg p.W561R DUS3L_ENST00000320699.8_Missense_Mutation_p.W319R NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 561 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 TCCGAGCCCCAGTGCTCCAGG 0.677000 6 18 0 0 0.001984 0 0 ROPN1B 152015 broad.mit.edu 37 3 125694519 125694519 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:125694519C>G ENST00000514116.1 + 4 545 c.230C>G c.(229-231)tCt>tGt p.S77C ROPN1B_ENST00000251776.4_Missense_Mutation_p.S77C|ROPN1B_ENST00000511082.1_5'UTR|ROPN1B_ENST00000505382.1_5'UTR Q9BZX4 ROP1B_HUMAN rhophilin associated tail protein 1B 77 acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis cytoplasm|flagellum cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(114;0.151) ATCCTGCATTCTCAGGTAAGG 0.567000 18 42 0 0 0.006122 0 0 AP3B2 8120 broad.mit.edu 37 15 83335612 83335612 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:83335612C>T ENST00000261722.3 - 15 1946 c.1739G>A c.(1738-1740)cGc>cAc p.R580H AP3B2_ENST00000535348.1_Missense_Mutation_p.R548H|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R580H NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 580 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) CCGGGTGAAGCGCGCCCGGTC 0.597000 17 66 0 0 0.006122 0 0 ZNF622 90441 broad.mit.edu 37 5 16465329 16465329 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr5:16465329G>A ENST00000308683.2 - 1 572 c.446C>T c.(445-447)cCa>cTa p.P149L NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 149 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 TGCAGGCGCTGGGGGCGCCTT 0.652000 65 92 0 0 0.014410 0 0 APBB1 322 broad.mit.edu 37 11 6431880 6431880 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr11:6431880G>C ENST00000389906.2 - 2 797 c.698C>G c.(697-699)tCc>tGc p.S233C APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.S233C|APBB1_ENST00000299402.6_Missense_Mutation_p.S233C NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 233 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GGAGCCATAGGAGGGGCTGCC 0.592000 11 50 0 0 0.010729 0 0 ASPA 443 broad.mit.edu 37 17 3385074 3385074 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:3385074G>C ENST00000263080.2 + 2 572 c.414G>C c.(412-414)caG>caC p.Q138H ASPA_ENST00000456349.2_Missense_Mutation_p.Q138H|SPATA22_ENST00000541913.1_Intron NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 138 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) TTTTAATTCAGATGTTTCATT 0.318000 3 22 0 0 0.004672 0 0 GYG1 2992 broad.mit.edu 37 3 148712030 148712030 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:148712030G>A ENST00000345003.4 + 2 409 c.109G>A c.(109-111)Gtg>Atg p.V37M GYG1_ENST00000296048.6_Missense_Mutation_p.V37M|GYG1_ENST00000484197.1_Missense_Mutation_p.V37M|GYG1_ENST00000483267.1_Missense_Mutation_p.V37M NM_004130.3 NP_004121.2 P46976 GLYG_HUMAN glycogenin 1 37 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol glycogenin glucosyltransferase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GAGGCTGGTCGTGCTCGCCAC 0.587000 18 65 0 0 0.012319 0 0 MYOCD 93649 broad.mit.edu 37 17 12642624 12642624 + Silent SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:12642624A>T ENST00000425538.1 + 7 896 c.696A>T c.(694-696)atA>atT p.I232I MYOCD_ENST00000395988.1_Silent_p.I136I|MYOCD_ENST00000343344.4_Silent_p.I232I NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 232 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) GCACCCCCATAGCCGTGCATG 0.587000 32 39 0 0 0.012213 0 0 NEDD4 4734 broad.mit.edu 37 15 56207863 56207863 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:56207863G>A ENST00000508342.1 - 1 1466 c.1167C>T c.(1165-1167)gaC>gaT p.D389D NEDD4_ENST00000506154.1_Silent_p.D389D|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.D389D P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 389 development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TTGTTTCACAGTCTAATGTAG 0.363000 17 38 0 0 0.004007 0 0 PLEKHA2 59339 broad.mit.edu 37 8 38810819 38810819 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr8:38810819G>T ENST00000420274.1 + 9 941 c.707G>T c.(706-708)cGa>cTa p.R236L PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000521746.1_Intron NM_021623.1 NP_067636.1 Q9HB19 PKHA2_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 236 PH 2. positive regulation of cell-matrix adhesion cytoplasm|nucleus|plasma membrane|protein complex fibronectin binding|laminin binding p.R236L(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235) CACCAGGACCGAGAACCACTG 0.463000 87 224 2.16659e-41 2.49229e-41 0.014410 1 0 IGLL1 3543 broad.mit.edu 37 22 23915612 23915612 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr22:23915612C>G ENST00000330377.2 - 3 600 c.483G>C c.(481-483)gaG>gaC p.E161D IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA NM_020070.3 NP_064455.1 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 161 C region (By similarity to lambda light- chain).|Ig-like C1-type. immune response extracellular region|membrane kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1) 12 GCGTGGTCATCTCCACGCCCT 0.582000 3 154 0 0 0.009096 0 0 GRIP1 23426 broad.mit.edu 37 12 66990676 66990676 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:66990676C>T ENST00000359742.4 - 2 327 c.87G>A c.(85-87)caG>caA p.Q29Q GRIP1_ENST00000398016.3_Silent_p.Q29Q|GRIP1_ENST00000286445.7_Silent_p.Q29Q Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 29 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GCGGCTTTGTCTGGCTGGCGG 0.448000 19 62 0 0 0.012319 0 0 DNAH10 196385 broad.mit.edu 37 12 124333280 124333280 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:124333280G>A ENST00000409039.3 + 33 5624 c.5599G>A c.(5599-5601)Gtg>Atg p.V1867M NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1867 AAA 1 (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) TTCCTAGGCCGTGGGGAAGAT 0.443000 4 25 0 0 0.009096 0 0 CCDC33 80125 broad.mit.edu 37 15 74559050 74559050 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:74559050G>A ENST00000321288.5 + 6 960 c.960G>A c.(958-960)aaG>aaA p.K320K CCDC33_ENST00000398814.3_Silent_p.K117K Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 320 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 ACAACAGAAAGAAACAGGAGT 0.473000 29 107 0 0 0.008361 0 0 SETDB1 9869 broad.mit.edu 37 1 150900253 150900253 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:150900253G>A ENST00000271640.5 + 2 253 c.63G>A c.(61-63)gaG>gaA p.E21E SETDB1_ENST00000368962.2_Silent_p.E21E|SETDB1_ENST00000368969.4_Silent_p.E21E|SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368963.1_Silent_p.E21E NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) AGTCTGAAGAGATTGCAGAGC 0.463000 17 92 0 0 0.004990 0 0 HLA-G 3135 broad.mit.edu 37 6 29796372 29796372 + Silent SNP C C T rs141841160 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:29796372C>T ENST00000428701.1 + 4 574 c.396C>T c.(394-396)cgC>cgT p.R132R HLA-G_ENST00000376828.2_Silent_p.R137R|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Silent_p.R132R NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 132 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 CCGACGGACGCCTCCTCCGCG 0.672000 23 83 0 0 0.003954 0 0 WAS 7454 broad.mit.edu 37 X 48542320 48542320 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chrX:48542320C>G ENST00000376701.4 + 1 153 c.78C>G c.(76-78)ctC>ctG p.L26L WAS_ENST00000483750.1_3'UTR NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 26 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) CCTCCACCCTCCTCCAGGACC 0.617000 """Mis, N, F, S""" lymphoma 16 50 0 0 0.007413 0 0 CD1D 912 broad.mit.edu 37 1 158152778 158152778 + Missense_Mutation SNP C C T rs139209490 by1000genomes TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr1:158152778C>T ENST00000368171.3 + 5 1217 c.718C>T c.(718-720)Cgg>Tgg p.R240W NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 240 Ig-like. antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) GAAGTGGATGCGGGGTGAGCA 0.632000 5 142 0 0 0.000602 0 0 PFKP 5214 broad.mit.edu 37 10 3178029 3178029 + Splice_Site SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr10:3178029G>C ENST00000381075.2 + 23 2424 c.2201_splice c.e23+1 p.E734_splice PFKP_ENST00000381125.4_Splice_Site_p.E742_splice|PFKP_ENST00000381072.1_Splice_Site_p.E160_splice NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 742 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) AACGGATTTTGAGTAAGTTGG 0.453000 6 23 0 0 0.001168 0 0 TCF21 6943 broad.mit.edu 37 6 134210544 134210544 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:134210544C>T ENST00000367882.4 + 1 269 c.9C>T c.(7-9)acC>acT p.T3T RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.T3T NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 3 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.T3T(1) cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) ACATGTCCACCGGCTCCCTCA 0.522000 14 91 0 0 0.006122 0 0 KCTD5 54442 broad.mit.edu 37 16 2757382 2757382 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr16:2757382G>C ENST00000564195.1 + 5 676 c.667G>C c.(667-669)Gaa>Caa p.E223Q KCTD5_ENST00000301738.4_3'UTR Q9NXV2 KCTD5_HUMAN potassium channel tetramerization domain containing 5 0 interspecies interaction between organisms cytosol|nucleus|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 GAGATGTAATGAACTGCCATG 0.433000 9 25 0 0 0.006214 0 0 ACVR1C 130399 broad.mit.edu 37 2 158390507 158390507 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:158390507C>T ENST00000243349.7 - 9 1765 c.1405G>A c.(1405-1407)Gga>Aga p.G469R ACVR1C_ENST00000335450.7_Missense_Mutation_p.G389R|ACVR1C_ENST00000409680.3_Missense_Mutation_p.G419R|ACVR1C_ENST00000348328.5_Missense_Mutation_p.G312R NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 469 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 CGGGCCGCTCCGTTGGCATAC 0.388000 17 109 0 0 0.006122 0 0 MCM3AP 8888 broad.mit.edu 37 21 47697544 47697544 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr21:47697544G>A ENST00000397708.1 - 6 2009 c.1755C>T c.(1753-1755)ctC>ctT p.L585L MCM3AP_ENST00000291688.1_Silent_p.L585L O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 585 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CACATGGCCCGAGGCCCTCGG 0.552000 12 111 0 0 0.002450 0 0 LIN9 286826 broad.mit.edu 37 1 226421074 226421074 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:226421074T>C ENST00000328205.5 - 13 1989 c.1444A>G c.(1444-1446)Agg>Ggg p.R482G LIN9_ENST00000366801.1_Missense_Mutation_p.R431G|LIN9_ENST00000481685.1_Missense_Mutation_p.R447G NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 466 cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) GCTGTAAGCCTGGAAATTAAG 0.368000 3 146 0 0 0.009096 0 0 TAS2R20 259295 broad.mit.edu 37 12 11150362 11150362 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:11150362C>T ENST00000538986.1 - 1 112 c.113G>A c.(112-114)aGa>aAa p.R38K TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176889.2 NP_795370.2 P59543 T2R20_HUMAN taste receptor, type 2, member 20 38 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 GATCTTTTGTCTCTTGACCCA 0.378000 23 46 0 0 0.016522 0 0 SLC2A14 144195 broad.mit.edu 37 12 7980270 7980270 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:7980270G>A ENST00000543909.1 - 12 1513 c.754C>T c.(754-756)Cgg>Tgg p.R252W SLC2A14_ENST00000542546.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R229W|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R267W|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R252W|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R229W Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 252 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) CCCCACAACCGCTGGAGGACT 0.507000 7 46 0 0 0.013537 0 0 LMTK2 22853 broad.mit.edu 37 7 97832936 97832936 + Silent SNP G G A rs146973469 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:97832936G>A ENST00000297293.5 + 12 4451 c.4158G>A c.(4156-4158)ccG>ccA p.P1386P NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1386 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CGTGCGGCCCGGACCTGAGCG 0.597000 11 26 0 0 0.010729 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51K(1) 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) GCACTGGGGCCTGCAGCAGCT 0.672000 7 63 0 0 0.010729 0 0 C17orf74 201243 broad.mit.edu 37 17 7330746 7330746 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:7330746C>T ENST00000333870.3 + 3 1510 c.1436C>T c.(1435-1437)tCa>tTa p.S479L RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 479 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) AGGTCCAGCTCACTGCCACCG 0.632000 13 32 0 0 0.013537 0 0 SLC12A4 6560 broad.mit.edu 37 16 67979293 67979293 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:67979293C>G ENST00000422611.2 - 21 3056 c.3017G>C c.(3016-3018)cGg>cCg p.R1006P SLC12A4_ENST00000576616.1_Missense_Mutation_p.R1004P|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R973P|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R998P|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R1004P|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R956P NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 1004 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) CACCAGCTCCCGGAAATTGTC 0.572000 28 58 0 0 0.007291 0 0 DUS3L 56931 broad.mit.edu 37 19 5785684 5785684 + Missense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:5785684A>T ENST00000309061.7 - 11 1777 c.1681T>A c.(1681-1683)Tgg>Agg p.W561R DUS3L_ENST00000320699.8_Missense_Mutation_p.W319R NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 561 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 TCCGAGCCCCAGTGCTCCAGG 0.677000 6 18 0 0 0.001984 0 0 ZNF765 91661 broad.mit.edu 37 19 53912281 53912281 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:53912281G>A ENST00000396408.3 + 4 1590 c.1473G>A c.(1471-1473)caG>caA p.Q491Q ZNF765_ENST00000594030.1_Intron NM_001040185.1 NP_001035275.1 Q7L2R6 ZN765_HUMAN zinc finger protein 765 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) ATACTGGACAGAAACCTTACA 0.378000 13 98 0 0 0.016723 0 0 TTN 7273 broad.mit.edu 37 2 179434801 179434801 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:179434801C>G ENST00000589042.1 - 326 76282 c.76058G>C c.(76057-76059)aGa>aCa p.R25353T TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23712T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22785T|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16480T|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16413T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16288T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23712 Fibronectin type-III 84. 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) CTTATGGCATCTTGTCCATCT 0.423000 3 141 0 0 0.004672 0 0 CCDC93 54520 broad.mit.edu 37 2 118758500 118758500 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:118758500G>C ENST00000376300.2 - 4 397 c.260C>G c.(259-261)tCa>tGa p.S87* AC009303.1_ENST00000588042.1_RNA|AC009303.1_ENST00000590516.1_RNA|CCDC93_ENST00000319432.5_Nonsense_Mutation_p.S87* NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 87 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 AATTTTTTCTGACAGAGCTCT 0.463000 14 29 0 0 0.004990 0 0 OR9A4 130075 broad.mit.edu 37 7 141619579 141619579 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:141619579C>T ENST00000548136.1 + 1 963 c.904C>T c.(904-906)Cgg>Tgg p.R302W MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 302 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) AGAGGCCCTTCGGGATGGGGT 0.423000 21 70 0 0 0.014323 0 0 IRF2BP2 359948 broad.mit.edu 37 1 234745081 234745081 + Nonsense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:234745081C>A ENST00000366609.3 - 1 190 c.160G>T c.(160-162)Gag>Tag p.E54* RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Nonsense_Mutation_p.E54* NM_182972.2 NP_892017.2 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 54 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) CGCGCCGTCTCGATGACGAAC 0.746000 4 5 0.00116845 0.00123071 0.001168 1 0 CYP4F24P 388514 broad.mit.edu 37 19 15885127 15885127 + RNA SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:15885127C>T ENST00000587443.2 - 0 295 NR_033864.1 ATGGAGAGATCATCCTTGGGC 0.577000 19 60 0 0 0.008871 0 0 CERS6 253782 broad.mit.edu 37 2 169417810 169417810 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:169417810C>G ENST00000305747.6 + 3 972 c.385C>G c.(385-387)Ctg>Gtg p.L129V CERS6_ENST00000392687.4_Missense_Mutation_p.L129V NM_203463.2 NP_982288.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 129 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GCCAAGCACGCTGACGAGGTT 0.448000 15 100 0 0 0.004007 0 0 HSD3B1 3283 broad.mit.edu 37 1 120057080 120057080 + Nonsense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:120057080C>T ENST00000235547.6 + 4 1079 c.940C>T c.(940-942)Cga>Tga p.R314* HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.R312*|HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.R312* NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 312 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) TTACACCTATCGACCGCCCTT 0.473000 40 118 0 0 0.006230 0 0 FARP1 10160 broad.mit.edu 37 13 99092944 99092944 + Missense_Mutation SNP G G A rs145597966 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr13:99092944G>A ENST00000376586.2 + 25 3079 c.2743G>A c.(2743-2745)Gcg>Acg p.A915T FARP1_ENST00000595437.1_Missense_Mutation_p.A915T|FARP1_ENST00000319562.6_Missense_Mutation_p.A884T Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 884 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TGAAGCCACCGCGGCTGACCA 0.627000 7 64 0 0 0.001984 0 0 BAIAP2L1 55971 broad.mit.edu 37 7 97935815 97935815 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:97935815G>A ENST00000005260.8 - 11 1392 c.1177C>T c.(1177-1179)Ccg>Tcg p.P393S NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 393 SH3. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) TACGACGACGGGAACCAACCC 0.572000 25 71 0 0 0.004656 0 0 BIRC6 57448 broad.mit.edu 37 2 32724766 32724766 + Nonsense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:32724766C>G ENST00000421745.2 + 46 8755 c.8621C>G c.(8620-8622)tCa>tGa p.S2874* NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2874 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ATCACTTGCTCAGACAAAGTA 0.433000 44 123 0 0 0.014410 0 0 ACBD6 84320 broad.mit.edu 37 1 180471273 180471273 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:180471273G>A ENST00000367595.3 - 1 816 c.129C>T c.(127-129)gcC>gcT p.A43A NM_032360.3 NP_115736.1 Q9BR61 ACBD6_HUMAN acyl-CoA binding domain containing 6 43 ACB. cytoplasm|nucleus fatty-acyl-CoA binding ACBD6/RRP15(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 7 CAAACAGCTCGGCCAGGCAAC 0.612000 9 33 0 0 0.004482 0 0 CFP 5199 broad.mit.edu 37 X 47486681 47486681 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chrX:47486681A>G ENST00000247153.3 - 6 866 c.625T>C c.(625-627)Tgc>Cgc p.C209R CFP_ENST00000396992.3_Missense_Mutation_p.C209R|CFP_ENST00000377005.2_Missense_Mutation_p.C209R NM_002621.2 NP_002612.1 P27918 PROP_HUMAN complement factor properdin 209 TSP type-1 3. complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 CCACCGTGGCAGGAGGCTGAG 0.667000 3 14 0 0 0.009096 0 0 ECE2 9718 broad.mit.edu 37 3 183994461 183994461 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr3:183994461C>T ENST00000357474.5 + 2 351 c.232C>T c.(232-234)Cgc>Tgc p.R78C ECE2_ENST00000359140.4_Intron|ECE2_ENST00000404464.3_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron O60344 ECE2_HUMAN endothelin converting enzyme 2 152 Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCCCCACCTCCGCTCCATCTC 0.617000 3 5 0 0 0.009096 0 0 COG5 10466 broad.mit.edu 37 7 107204296 107204296 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:107204296G>C ENST00000393603.2 - 1 410 c.139C>G c.(139-141)Cga>Gga p.R47G COG5_ENST00000297135.3_Missense_Mutation_p.R47G|DUS4L_ENST00000498786.1_Intron|COG5_ENST00000347053.3_Missense_Mutation_p.R47G NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 47 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 CCAGAGCCTCGAGCTCCGAGG 0.667000 28 50 0 0 0.010818 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 3 48 0 0 0.004672 0 0 MYH3 4621 broad.mit.edu 37 17 10547749 10547749 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:10547749G>A ENST00000583535.1 - 14 1416 c.1329C>T c.(1327-1329)cgC>cgT p.R443R MYH3_ENST00000226209.7_Silent_p.R443R NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 443 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GCTGGTTAATGCGAGTGACCA 0.398000 22 68 0 0 0.012319 0 0 COCH 1690 broad.mit.edu 37 14 31348691 31348691 + Splice_Site SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr14:31348691G>C ENST00000460581.2 + 4 646 c.100_splice c.e4+1 p.G34_splice COCH_ENST00000216361.4_Splice_Site_p.G146_splice|COCH_ENST00000396618.3_Splice_Site_p.G146_splice|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Splice_Site_p.G146_splice O43405 COCH_HUMAN cochlin 146 LCCL. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) TCCACCAACAGGTATGAACTA 0.383000 9 58 0 0 0.008291 0 0 MAP2K1 5604 broad.mit.edu 37 15 66782908 66782908 + Silent SNP C C T rs150841154 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr15:66782908C>T ENST00000307102.5 + 11 1668 c.1137C>T c.(1135-1137)atC>atT p.I379I SNAPC5_ENST00000395589.2_3'UTR|CTD-3185P2.1_ENST00000565387.1_RNA|SNAPC5_ENST00000563480.2_3'UTR|MAP2K1_ENST00000566326.1_Silent_p.I203I NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 379 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 GCTCCACCATCGGCCTTAACC 0.532000 40 82 0 0 0.007835 0 0 RBM34 23029 broad.mit.edu 37 1 235295270 235295270 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:235295270C>G ENST00000408888.3 - 11 1281 c.1051G>C c.(1051-1053)Gaa>Caa p.E351Q RBM34_ENST00000366606.3_Missense_Mutation_p.E346Q|RBM34_ENST00000495224.1_5'UTR P42696 RBM34_HUMAN RNA binding motif protein 34 351 RRM 2. nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) CCCATGAGTTCAGAATTATTT 0.318000 12 43 0 0 0.016723 0 0 LAMA4 3910 broad.mit.edu 37 6 112465999 112465999 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr6:112465999G>C ENST00000230538.7 - 19 2887 c.2490C>G c.(2488-2490)agC>agG p.S830R LAMA4_ENST00000389463.4_Missense_Mutation_p.S823R|LAMA4_ENST00000522006.1_Missense_Mutation_p.S823R|LAMA4_ENST00000424408.2_Missense_Mutation_p.S823R NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 830 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CAGTTACCTTGCTGGCAACAC 0.512000 21 82 0 0 0.012319 0 0 ASPA 443 broad.mit.edu 37 17 3385074 3385074 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:3385074G>C ENST00000263080.2 + 2 572 c.414G>C c.(412-414)caG>caC p.Q138H ASPA_ENST00000456349.2_Missense_Mutation_p.Q138H|SPATA22_ENST00000541913.1_Intron NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 138 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) TTTTAATTCAGATGTTTCATT 0.318000 3 22 0 0 0.004672 0 0 DNAH3 55567 broad.mit.edu 37 16 20981224 20981224 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:20981224G>A ENST00000261383.3 - 52 8347 c.8348C>T c.(8347-8349)tCg>tTg p.S2783L DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2783 Stalk (By similarity). 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) CTTCACCAGCGAGATGTCGGC 0.592000 35 86 0 0 0.015359 0 0 PRR5L 79899 broad.mit.edu 37 11 36472865 36472865 + Nonsense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:36472865C>G ENST00000378867.3 + 9 1047 c.692C>G c.(691-693)tCa>tGa p.S231* PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Nonsense_Mutation_p.S231*|PRR5L_ENST00000311599.5_Nonsense_Mutation_p.S158* NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 231 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 CGTAGCTTCTCAGGCCCCACG 0.537000 13 37 0 0 0.016723 0 0 USP8 9101 broad.mit.edu 37 15 50791262 50791262 + Nonsense_Mutation SNP C C T rs142928952 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr15:50791262C>T ENST00000433963.1 + 21 3834 c.3334C>T c.(3334-3336)Cga>Tga p.R1112* USP8_ENST00000425032.3_Nonsense_Mutation_p.R1006*|USP8_ENST00000396444.3_Nonsense_Mutation_p.R1112*|USP8_ENST00000307179.4_Nonsense_Mutation_p.R1112* NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 1112 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) ATTGGGACCACGAGTAACTGA 0.368000 12 33 0 0 0.010729 0 0 PUS7 54517 broad.mit.edu 37 7 105098338 105098338 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:105098338G>C ENST00000356362.2 - 16 2099 c.1885C>G c.(1885-1887)Cta>Gta p.L629V PUS7_ENST00000469408.1_Missense_Mutation_p.L629V NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 629 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 GAAGGGGGTAGAGAAAAATCC 0.473000 32 88 0 0 0.010818 0 0 XRCC6 2547 broad.mit.edu 37 22 42033722 42033722 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr22:42033722G>C ENST00000359308.4 + 5 1355 c.700G>C c.(700-702)Gag>Cag p.E234Q XRCC6_ENST00000428575.2_Missense_Mutation_p.E101Q|XRCC6_ENST00000360079.3_Missense_Mutation_p.E234Q|XRCC6_ENST00000402580.3_Missense_Mutation_p.E193Q|XRCC6_ENST00000405878.1_Missense_Mutation_p.E234Q|XRCC6_ENST00000405506.1_Missense_Mutation_p.E184Q P12956 XRCC6_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 6 234 DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 GGTTCACTTTGAGGAATCCAG 0.537000 Non-homologous end-joining 3 18 0 0 0.004672 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394516 233394516 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:233394516G>A ENST00000258229.8 - 5 1326 c.1092C>T c.(1090-1092)ccC>ccT p.P364P PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 364 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) GTGGGTCTCCGGGTTGAGAAG 0.517000 29 119 0 0 0.005443 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72055505 72055505 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr14:72055505G>C ENST00000555818.1 + 2 1264 c.916G>C c.(916-918)Gaa>Caa p.E306Q SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E306Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E306Q NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 306 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) CAAAGGTGAAGAACTTGGGAA 0.433000 13 47 0 0 0.013537 0 0 FRAS1 80144 broad.mit.edu 37 4 79403007 79403007 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr4:79403007C>T ENST00000264895.6 + 57 8933 c.8493C>T c.(8491-8493)ttC>ttT p.F2831F NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2826 Calx-beta 3. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TCTCTACTTTCGCATCTGTCT 0.493000 63 180 0 0 0.014410 0 0 UNC13B 10497 broad.mit.edu 37 9 35403456 35403456 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:35403456C>T ENST00000378495.3 + 38 4572 c.4350C>T c.(4348-4350)ctC>ctT p.L1450L UNC13B_ENST00000396787.1_Silent_p.L1481L|UNC13B_ENST00000378496.4_Silent_p.L1469L NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1450 C2 3. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CCAATGACCTCAAGTGGCAGA 0.532000 27 47 0 0 0.008361 0 0 NCAPD3 23310 broad.mit.edu 37 11 134072795 134072795 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:134072795A>G ENST00000534548.2 - 13 1595 c.1531T>C c.(1531-1533)Tcc>Ccc p.S511P NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 511 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CTTTGGTAGGAAAAAGCTTTA 0.348000 16 16 0 0 0.004007 0 0 ZNF711 7552 broad.mit.edu 37 X 84525039 84525039 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chrX:84525039G>C ENST00000360700.4 + 9 2019 c.1133G>C c.(1132-1134)aGa>aCa p.R378T ZNF711_ENST00000373165.3_Missense_Mutation_p.R332T|ZNF711_ENST00000276123.3_Missense_Mutation_p.R332T|ZNF711_ENST00000395402.1_Missense_Mutation_p.R340T|ZNF711_ENST00000542798.1_Missense_Mutation_p.R174T Q9Y462 ZN711_HUMAN zinc finger protein 711 332 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 TTAGAAAGCAGAAGTAGTACA 0.333000 8 30 0 0 0.004482 0 0 SLC31A1 1317 broad.mit.edu 37 9 116028637 116028637 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:116028637A>G ENST00000374210.6 + 6 716 c.530A>G c.(529-531)gAg>gGg p.E177G CDC26_ENST00000490408.1_Intron O15431 COPT1_HUMAN solute carrier family 31 (copper transporter), member 1 60 integral to plasma membrane copper ion transmembrane transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 ATGATTCAAGAGGCTCTTATG 0.473000 4 5 0 0 0.009096 0 0 TMCC3 57458 broad.mit.edu 37 12 94975422 94975422 + Missense_Mutation SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:94975422T>A ENST00000261226.4 - 2 1102 c.971A>T c.(970-972)cAg>cTg p.Q324L TMCC3_ENST00000551457.1_Missense_Mutation_p.Q293L NM_020698.2 NP_065749.2 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 324 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 TTGCAGGGTCTGAGAAATAAA 0.353000 15 50 0 0 0.003163 0 0 ZNF79 7633 broad.mit.edu 37 9 130206706 130206706 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:130206706C>T ENST00000342483.5 + 5 1133 c.727C>T c.(727-729)Cac>Tac p.H243Y ZNF79_ENST00000543471.1_Missense_Mutation_p.H219Y NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 CCAGAGGATTCACACTGGAGA 0.537000 15 59 0 0 0.002450 0 0 KCNH8 131096 broad.mit.edu 37 3 19295208 19295208 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr3:19295208G>A ENST00000328405.2 + 2 405 c.139G>A c.(139-141)Gat>Aat p.D47N NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 47 PAS. integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 CTACTGTTCCGATGGCTTCTG 0.453000 12 103 0 0 0.010729 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79067056 79067056 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr15:79067056G>A ENST00000388820.4 - 12 1996 c.1786C>T c.(1786-1788)Cgc>Tgc p.R596C ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 596 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AAGGAGGGGCGGCCAGCAGGG 0.632000 10 39 0 0 0.006214 0 0 TANC1 85461 broad.mit.edu 37 2 160086120 160086120 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:160086120G>A ENST00000263635.6 + 27 4420 c.4183G>A c.(4183-4185)Gag>Aag p.E1395K TANC1_ENST00000454300.1_Missense_Mutation_p.E1289K NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1395 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TGACCTGCAAGAGGCTGTGAA 0.473000 9 40 0 0 0.004482 0 0 RADIL 55698 broad.mit.edu 37 7 4856042 4856042 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:4856042G>A ENST00000399583.3 - 8 1970 c.1783C>T c.(1783-1785)Cgc>Tgc p.R595C RADIL_ENST00000538469.1_Missense_Mutation_p.R355C|RADIL_ENST00000536091.1_Missense_Mutation_p.A541V NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 595 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CTCTCACGGCGCTCCGTCTGG 0.677000 4 15 0 0 0.009096 0 0 PCLO 27445 broad.mit.edu 37 7 82579179 82579179 + Silent SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:82579179T>A ENST00000423517.2 - 6 11062 c.10725A>T c.(10723-10725)acA>acT p.T3575T PCLO_ENST00000437081.1_Silent_p.T295T|PCLO_ENST00000333891.8_Silent_p.T3575T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3506 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAGGACTTTGTGTGTCTGAAT 0.438000 18 48 0 0 0.008871 0 0 SYNE1 23345 broad.mit.edu 37 6 152763311 152763311 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr6:152763311C>T ENST00000367255.5 - 31 4508 c.3907G>A c.(3907-3909)Gaa>Aaa p.E1303K SYNE1_ENST00000413186.2_Missense_Mutation_p.E1303K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1303K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1369K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1293K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1303K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1303 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) AGCCCCCCTTCTCCCTGCTGC 0.582000 HNSCC(10;0.0054) 18 60 0 0 0.008871 0 0 ZNF622 90441 broad.mit.edu 37 5 16465329 16465329 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr5:16465329G>A ENST00000308683.2 - 1 572 c.446C>T c.(445-447)cCa>cTa p.P149L NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 149 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 TGCAGGCGCTGGGGGCGCCTT 0.652000 65 92 0 0 0.014410 0 0 ZNF28 7576 broad.mit.edu 37 19 53303120 53303120 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:53303120C>G ENST00000438150.2 - 2 2712 c.1819G>C c.(1819-1821)Gag>Cag p.E607Q ZNF28_ENST00000414252.2_Missense_Mutation_p.E607Q|ZNF28_ENST00000457749.2_Missense_Mutation_p.E660Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.E607Q P17035 ZNF28_HUMAN zinc finger protein 28 660 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TAAGGTTTCTCTCCACTATGA 0.423000 26 231 0 0 0.018920 0 0 UNC5D 137970 broad.mit.edu 37 8 35583721 35583721 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr8:35583721G>A ENST00000287272.2 + 9 1168 c.1148G>A c.(1147-1149)cGg>cAg p.R383Q UNC5D_ENST00000416672.1_Missense_Mutation_p.R457Q|UNC5D_ENST00000404895.2_Missense_Mutation_p.R452Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.R447Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.R385Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.R28Q Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 452 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) ACAGTGAGCCGGACATACAGC 0.488000 59 62 0 0 0.014410 0 0 PLCE1 51196 broad.mit.edu 37 10 95791019 95791019 + Silent SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr10:95791019T>C ENST00000260766.3 + 2 850 c.216T>C c.(214-216)atT>atC p.I72I PLCE1_ENST00000371380.2_Silent_p.I72I NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 72 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TGCCAAAGATTCTCTCAATAG 0.393000 14 29 0 0 0.004007 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476460 140476460 + Silent SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr5:140476460T>C ENST00000194155.4 + 1 2234 c.2086T>C c.(2086-2088)Ttg>Ctg p.L696L NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 696 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGTGGCGTTGGCCTCGGT 0.697000 52 166 0 0 0.014410 0 0 TMEM99 147184 broad.mit.edu 37 17 38991082 38991082 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:38991082C>T ENST00000301665.3 + 3 618 c.314C>T c.(313-315)tCg>tTg p.S105L NM_001195386.1|NM_001195387.1|NM_145274.3 NP_001182315.1|NP_001182316.1|NP_660317.2 Q8N816 TMM99_HUMAN transmembrane protein 99 105 integral to membrane cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1) 10 Breast(137;0.000301) GGTGTTGGCTCGTGGTTGCTC 0.468000 62 129 0 0 0.014410 0 0 SHPRH 257218 broad.mit.edu 37 6 146245960 146245960 + Missense_Mutation SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr6:146245960T>A ENST00000367503.3 - 17 3742 c.3344A>T c.(3343-3345)tAc>tTc p.Y1115F SHPRH_ENST00000367505.2_Missense_Mutation_p.Y1106F|SHPRH_ENST00000275233.7_Missense_Mutation_p.Y1106F|SHPRH_ENST00000438092.2_Missense_Mutation_p.Y1115F NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 1106 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CTTGCTCATGTAGTGCTCTCG 0.408000 23 59 0 0 0.014323 0 0 DFNB31 25861 broad.mit.edu 37 9 117266938 117266938 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:117266938C>T ENST00000362057.3 - 1 312 c.144G>A c.(142-144)gcG>gcA p.A48A DFNB31_ENST00000374057.3_Silent_p.A48A NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 48 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CGCTCAGCAGCGCGGTCAGCG 0.746000 8 33 0 0 0.003080 0 0 PLXNA1 5361 broad.mit.edu 37 3 126733043 126733043 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr3:126733043C>T ENST00000251772.4 + 11 2429 c.2360C>T c.(2359-2361)cCg>cTg p.P787L PLXNA1_ENST00000393409.2_Missense_Mutation_p.P810L Q9UIW2 PLXA1_HUMAN plexin A1 810 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TACAAGTGCCCGGCCCTGCGC 0.736000 6 25 0 0 0.001168 0 0 FBXW7 55294 broad.mit.edu 37 4 153332853 153332853 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr4:153332853G>A ENST00000281708.4 - 2 1332 c.103C>T c.(103-105)Cgt>Tgt p.R35C FBXW7_ENST00000604872.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R35C NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 35 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TCTACCACACGATTCATCTGT 0.507000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 47 90 0 0 0.013114 0 0 FREM1 158326 broad.mit.edu 37 9 14848678 14848678 + Missense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:14848678C>A ENST00000380881.4 - 8 2064 c.1249G>T c.(1249-1251)Gta>Tta p.V417L FREM1_ENST00000380880.3_Missense_Mutation_p.V416L|FREM1_ENST00000422223.2_Missense_Mutation_p.V416L Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 416 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTCCAGGATACACGGGGGGCA 0.423000 19 42 1.28384e-07 1.3826e-07 0.012319 1 0 BFSP1 631 broad.mit.edu 37 20 17475534 17475534 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr20:17475534C>G ENST00000377873.3 - 8 1222 c.1183G>C c.(1183-1185)Gaa>Caa p.E395Q BFSP1_ENST00000544874.1_Missense_Mutation_p.E256Q|BFSP1_ENST00000377868.2_Missense_Mutation_p.E270Q|BFSP1_ENST00000536626.1_Missense_Mutation_p.E256Q NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 395 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 TTTGTGTCTTCCAAACCTTTT 0.413000 48 74 0 0 0.014410 0 0 NEDD4 4734 broad.mit.edu 37 15 56207863 56207863 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr15:56207863G>A ENST00000508342.1 - 1 1466 c.1167C>T c.(1165-1167)gaC>gaT p.D389D NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.D389D|NEDD4_ENST00000506154.1_Silent_p.D389D P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 389 development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TTGTTTCACAGTCTAATGTAG 0.363000 17 38 0 0 0.004007 0 0 SPTBN2 6712 broad.mit.edu 37 11 66488701 66488701 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:66488701G>A ENST00000533211.1 - 3 342 c.11C>T c.(10-12)aCg>aTg p.T4M SPTBN2_ENST00000529997.1_Missense_Mutation_p.T4M|SPTBN2_ENST00000309996.2_Missense_Mutation_p.T4M O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 4 Actin-binding. 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 GGGTGACAGCGTGCTGCTCAT 0.602000 20 125 0 0 0.010504 0 0 SLC2A3 6515 broad.mit.edu 37 12 8082459 8082459 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:8082459G>A ENST00000075120.7 - 6 922 c.682C>T c.(682-684)Cgg>Tgg p.R228W NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 228 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) CCCCACAACCGCTGGAGGACT 0.498000 12 89 0 0 0.006122 0 0 PYGM 5837 broad.mit.edu 37 11 64525340 64525340 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:64525340C>G ENST00000164139.3 - 5 969 c.571G>C c.(571-573)Gag>Cag p.E191Q PYGM_ENST00000377432.3_Missense_Mutation_p.E103Q NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 191 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) CGGGCCTTCTCCCAGGGGTTG 0.607000 18 25 0 0 0.010504 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482313 140482313 + Silent SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr5:140482313T>C ENST00000231130.2 + 1 2080 c.2080T>C c.(2080-2082)Ttg>Ctg p.L694L NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 694 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) GGTGGTGGCATTGGCCTCGGT 0.687000 10 67 0 0 0.010504 0 0 STXBP2 6813 broad.mit.edu 37 19 7708073 7708073 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:7708073C>G ENST00000441779.2 + 13 1119 c.1082C>G c.(1081-1083)gCa>gGa p.A361G STXBP2_ENST00000221283.5_Missense_Mutation_p.A350G|STXBP2_ENST00000414284.2_Missense_Mutation_p.A347G NM_001272034.1 NP_001258963.1 Q15833 STXB2_HUMAN syntaxin binding protein 2 350 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 23 CTGCATCTAGCAGATGATTGT 0.587000 9 37 0 0 0.006214 0 0 CNTN2 6900 broad.mit.edu 37 1 205039107 205039107 + Silent SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:205039107C>A ENST00000331830.4 + 18 2633 c.2349C>A c.(2347-2349)ccC>ccA p.P783P NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 783 Fibronectin type-III 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCTACACGCCCTTTGAGGTCA 0.667000 21 82 1.50039e-11 1.63149e-11 0.012319 1 0 ZNF615 284370 broad.mit.edu 37 19 52497522 52497522 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:52497522G>A ENST00000602063.1 - 6 1156 c.807C>T c.(805-807)ttC>ttT p.F269F ZNF615_ENST00000598071.1_Silent_p.F280F|ZNF615_ENST00000594083.1_Silent_p.F280F|ZNF615_ENST00000391795.3_Silent_p.F274F|ZNF615_ENST00000376716.5_Silent_p.F269F Q8N8J6 ZN615_HUMAN zinc finger protein 615 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) ATTTCTTGAGGAAGGTTTTGT 0.413000 24 220 0 0 0.014323 0 0 SPIB 6689 broad.mit.edu 37 19 50925756 50925756 + Nonsense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:50925756G>A ENST00000439922.2 + 3 100 c.20G>A c.(19-21)tGg>tAg p.W7* SPIB_ENST00000596074.1_Silent_p.L26L|SPIB_ENST00000595883.1_Silent_p.L26L|SPIB_ENST00000270632.7_Silent_p.L26L|SPIB_ENST00000597855.1_Silent_p.L26L NM_001243998.1 NP_001230927.1 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 0 TAD1 (Acidic). regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) TCTATGACCTGGACAGCTGCA 0.612000 16 21 0 0 0.006122 0 0 IQCG 84223 broad.mit.edu 37 3 197670906 197670906 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr3:197670906A>G ENST00000265239.6 - 4 449 c.25T>C c.(25-27)Tca>Cca p.S9P IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.S9P|IQCG_ENST00000453254.1_Missense_Mutation_p.S9P NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 9 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GGAAGGTTTGAGTCTTCCAGG 0.408000 3 161 0 0 0.004672 0 0 AGPAT1 10554 broad.mit.edu 37 6 32137994 32137994 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr6:32137994C>G ENST00000395499.1 - 5 1133 c.554G>C c.(553-555)gGc>gCc p.G185A AGPAT1_ENST00000395496.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000336984.6_Missense_Mutation_p.G185A|AGPAT1_ENST00000412465.2_Missense_Mutation_p.G73A|PPT2-EGFL8_ENST00000422437.1_Intron|AGPAT1_ENST00000375104.2_Missense_Mutation_p.G185A|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000375107.3_Missense_Mutation_p.G185A|AGPAT1_ENST00000395497.1_Missense_Mutation_p.G185A Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 185 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2) 12 CAGCATGGAGCCATTGTGGTT 0.537000 7 12 0 0 0.001984 0 0 YME1L1 10730 broad.mit.edu 37 10 27423860 27423860 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr10:27423860G>A ENST00000326799.3 - 7 910 c.762C>T c.(760-762)ctC>ctT p.L254L YME1L1_ENST00000375972.3_Silent_p.L164L|YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Silent_p.L197L NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 254 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TGGTTTTCATGAGTTTGTCCA 0.393000 14 37 0 0 0.016723 0 0 KDM7A 80853 broad.mit.edu 37 7 139796488 139796488 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:139796488G>A ENST00000397560.2 - 17 2338 c.2241C>T c.(2239-2241)tcC>tcT p.S747S JHDM1D_ENST00000006967.5_Silent_p.S747S NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 747 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) GTAAACACGTGGAATAGTGCA 0.483000 23 64 0 0 0.018920 0 0 PARP14 54625 broad.mit.edu 37 3 122420364 122420364 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr3:122420364C>T ENST00000474629.2 + 6 3229 c.2963C>T c.(2962-2964)cCg>cTg p.P988L NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 988 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) ACAGCTGCCCCGCCAGGTTTA 0.522000 4 17 0 0 0.014758 0 0 CMTR1 23070 broad.mit.edu 37 6 37411845 37411845 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr6:37411845C>T ENST00000373451.4 + 3 368 c.204C>T c.(202-204)gaC>gaT p.D68D NM_015050.2 NP_055865.1 Q8N1G2 MTR1_HUMAN 68 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 ACTCTTTTGACGATGCATTCA 0.433000 40 52 0 0 0.007835 0 0 OR10R2 343406 broad.mit.edu 37 1 158450344 158450344 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:158450344T>C ENST00000368152.1 + 1 677 c.677T>C c.(676-678)gTa>gCa p.V226A RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) GGAGTTCTTGTACTTGTGGTT 0.413000 26 87 0 0 0.008361 0 0 SUN5 140732 broad.mit.edu 37 20 31590695 31590695 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr20:31590695C>T ENST00000356173.3 - 2 200 c.108G>A c.(106-108)agG>agA p.R36R SUN5_ENST00000375523.3_Silent_p.R36R|SUN5_ENST00000375519.2_Silent_p.R36R NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 36 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 CCTCTGCCATCCTGCTGGTGT 0.527000 19 49 0 0 0.010504 0 0 SENP1 29843 broad.mit.edu 37 12 48477537 48477537 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:48477537G>C ENST00000004980.5 - 6 867 c.389C>G c.(388-390)tCa>tGa p.S130* SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549518.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000551330.1_Nonsense_Mutation_p.S130* Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 130 Ser-rich. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) AAAACTGTTTGATAATCCACT 0.313000 10 37 0 0 0.010729 0 0 CD19 930 broad.mit.edu 37 16 28948971 28948971 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:28948971G>A ENST00000538922.1 + 11 1461 c.1399G>A c.(1399-1401)Gag>Aag p.E467K CD19_ENST00000324662.3_Missense_Mutation_p.E467K|CD19_ENST00000567541.1_Missense_Mutation_p.E467K NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 467 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 CGAGGATGAAGAGCTGACCCA 0.567000 19 35 0 0 0.006122 0 0 NIPBL 25836 broad.mit.edu 37 5 37048678 37048678 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr5:37048678G>C ENST00000282516.8 + 39 7163 c.6664G>C c.(6664-6666)Gat>Cat p.D2222H NIPBL_ENST00000448238.2_Missense_Mutation_p.D2222H NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2222 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TATTTTATCTGATAAGAACTC 0.363000 13 37 0 0 0.016723 0 0 KCTD13 253980 broad.mit.edu 37 16 29918300 29918300 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:29918300C>T ENST00000568000.1 - 6 1884 c.883G>A c.(883-885)Ggg>Agg p.G295R NM_178863.3 NP_849194.1 Q8WZ19 BACD1_HUMAN potassium channel tetramerization domain containing 13 295 cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 7 TCATCCTCCCCGCGGCCAGCC 0.637000 33 80 0 0 0.015359 0 0 ASTE1 28990 broad.mit.edu 37 3 130744130 130744130 + Missense_Mutation SNP C C G rs139512239 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr3:130744130C>G ENST00000264992.3 - 3 462 c.21G>C c.(19-21)atG>atC p.M7I ASTE1_ENST00000514044.1_Missense_Mutation_p.M7I NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 7 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 CCACAAAACTCATTAGTCCTC 0.378000 22 57 0 0 0.018920 0 0 DGKQ 1609 broad.mit.edu 37 4 959304 959304 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr4:959304G>A ENST00000273814.3 - 14 1666 c.1593C>T c.(1591-1593)tcC>tcT p.S531S DGKQ_ENST00000502309.1_5'UTR NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 531 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TGTGACTCACGGACACCACGG 0.667000 5 18 0 0 0.014758 0 0 CACNA1D 776 broad.mit.edu 37 3 53757958 53757958 + Missense_Mutation SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr3:53757958T>A ENST00000288139.3 + 15 2210 c.2092T>A c.(2092-2094)Ttt>Att p.F698I CACNA1D_ENST00000422281.2_Missense_Mutation_p.F678I|CACNA1D_ENST00000350061.5_Missense_Mutation_p.F678I NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 678 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) CAAGTTTAATTTTGATGAAAC 0.463000 15 39 0 0 0.002450 0 0 KIF1B 23095 broad.mit.edu 37 1 10384836 10384836 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:10384836G>A ENST00000377086.1 + 26 2760 c.2558G>A c.(2557-2559)cGa>cAa p.R853Q KIF1B_ENST00000263934.6_Missense_Mutation_p.R807Q|KIF1B_ENST00000377081.1_Missense_Mutation_p.R853Q O60333 KIF1B_HUMAN kinesin family member 1B 853 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GATTTGATGCGAGAGATGTAT 0.463000 20 53 0 0 0.012319 0 0 EP300 2033 broad.mit.edu 37 22 41573028 41573028 + Nonsense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr22:41573028C>A ENST00000263253.7 + 31 6532 c.5313C>A c.(5311-5313)tgC>tgA p.C1771* RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1771 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CCAAGGGTTGCAAACGGAAAA 0.567000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 9 38 3.86212e-05 4.10656e-05 0.008291 1 0 CASP8 841 broad.mit.edu 37 2 202149644 202149644 + Missense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:202149644A>T ENST00000358485.4 + 8 1281 c.1085A>T c.(1084-1086)gAc>gTc p.D362V CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.D288V|CASP8_ENST00000432109.2_Missense_Mutation_p.D303V|CASP8_ENST00000264274.9_Missense_Mutation_p.D219V|CASP8_ENST00000264275.5_Missense_Mutation_p.D320V NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 303 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CAACTCATGGACCACAGTAAC 0.473000 HNSCC(4;0.00038) 81 83 0 0 0.014410 0 0 FAM46B 115572 broad.mit.edu 37 1 27332876 27332876 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:27332876G>A ENST00000289166.5 - 2 1002 c.837C>T c.(835-837)ctC>ctT p.L279L NM_052943.3 NP_443175.2 Q96A09 FA46B_HUMAN family with sequence similarity 46, member B 279 breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) AGTACTTGAGGAGGCCACCAC 0.677000 9 18 0 0 0.008291 0 0 CYP2W1 54905 broad.mit.edu 37 7 1026752 1026752 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:1026752C>T ENST00000340150.6 + 6 683 c.661C>T c.(661-663)Ccc>Tcc p.P221S CYP2W1_ENST00000308919.7_Missense_Mutation_p.P277S Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 277 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GGGGGATGACCCCGAGGGCCT 0.692000 5 7 0 0 0.001168 0 0 ZNF630 57232 broad.mit.edu 37 X 47918145 47918145 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chrX:47918145C>G ENST00000276054.4 - 5 2248 c.1314G>C c.(1312-1314)caG>caC p.Q438H ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Missense_Mutation_p.Q562H|ZNF630_ENST00000442455.3_Missense_Mutation_p.Q548H Q2M218 ZN630_HUMAN zinc finger protein 630 562 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 TATGACCTCTCTGATGTAGAA 0.448000 10 11 0 0 0.008291 0 0 F13B 2165 broad.mit.edu 37 1 197024886 197024886 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:197024886C>T ENST00000367412.1 - 8 1356 c.1313G>A c.(1312-1314)cGt>cAt p.R438H NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 438 Sushi 7. blood coagulation extracellular region p.R438H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TTGTTCGCAACGAGATATTTT 0.413000 11 53 0 0 0.003163 0 0 DNAH2 146754 broad.mit.edu 37 17 7696466 7696466 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:7696466C>T ENST00000572933.1 + 48 8972 c.7512C>T c.(7510-7512)ctC>ctT p.L2504L DNAH2_ENST00000389173.2_Silent_p.L2504L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2504 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGATCCGCCTCTGGATTGACT 0.517000 22 84 0 0 0.014323 0 0 TPSD1 23430 broad.mit.edu 37 16 1306640 1306640 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:1306640C>T ENST00000211076.3 + 2 354 c.206C>T c.(205-207)tCc>tTc p.S69F TPSD1_ENST00000397534.2_Missense_Mutation_p.S62F NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 69 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) TGCGGGGGCTCCCTCATCCAC 0.687000 22 57 0 0 0.016522 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43625502 43625502 + RNA SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:43625502C>G ENST00000586348.1 + 0 45 GGTTTAACCTCTGTAGTAGGT 0.507000 61 148 0 0 0.014410 0 0 ALOXE3 59344 broad.mit.edu 37 17 8021162 8021162 + Splice_Site SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:8021162C>T ENST00000380149.1 - 1 645 c.615_splice c.e1+1 p.S205_splice ALOXE3_ENST00000448843.2_Splice_Site_p.S49_splice|ALOXE3_ENST00000318227.3_Splice_Site_p.S181_splice Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 49 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 TTGTACTCACCGATCCAGGGG 0.612000 4 24 0 0 0.014758 0 0 C17orf74 201243 broad.mit.edu 37 17 7329885 7329885 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:7329885C>T ENST00000333870.3 + 3 649 c.575C>T c.(574-576)cCc>cTc p.P192L RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Silent_p.A79A NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 192 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) GACAACCTGCCCTTCCCGTAT 0.597000 33 157 0 0 0.013726 0 0 TTN 7273 broad.mit.edu 37 2 179616442 179616442 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:179616442G>A ENST00000360870.5 - 46 10907 c.10685C>T c.(10684-10686)tCt>tTt p.S3562F TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3558 Ig-like 21. 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) TAAGCTGGAAGAGTGATGGTG 0.423000 41 101 0 0 0.007835 0 0 FAT1 2195 broad.mit.edu 37 4 187539252 187539252 + Nonsense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr4:187539252G>A ENST00000441802.2 - 10 8697 c.8488C>T c.(8488-8490)Cag>Tag p.Q2830* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2830 Cadherin 26. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GCCCTGATCTGAATTACTCTA 0.438000 HNSCC(5;0.00058) 35 72 0 0 0.019004 0 0 TRMU 55687 broad.mit.edu 37 22 46752850 46752850 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr22:46752850G>A ENST00000290846.4 + 11 1553 c.1213G>A c.(1213-1215)Gag>Aag p.E405K TRMU_ENST00000381019.3_Silent_p.*377* NM_018006.4 NP_060476.2 O75648 MTU1_HUMAN tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 405 mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1) 10 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) GATGGCCACTGAGAGCCCCAG 0.632000 15 39 0 0 0.003163 0 0 EYS 346007 broad.mit.edu 37 6 66204916 66204916 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr6:66204916G>T ENST00000503581.1 - 4 925 c.388C>A c.(388-390)Cta>Ata p.L130I EYS_ENST00000342421.5_Missense_Mutation_p.L130I|EYS_ENST00000393380.2_Missense_Mutation_p.L130I|EYS_ENST00000370616.2_Missense_Mutation_p.L130I|EYS_ENST00000370618.3_Missense_Mutation_p.L130I|EYS_ENST00000370621.3_Missense_Mutation_p.L130I NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 130 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 ATTCCTTTTAGTCTGCAGCCA 0.393000 11 23 6.40141e-05 6.78509e-05 0.010729 1 0 RALGDS 5900 broad.mit.edu 37 9 135984211 135984211 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:135984211C>T ENST00000393160.3 - 5 815 c.462G>A c.(460-462)tcG>tcA p.S154S RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Silent_p.S180S|RALGDS_ENST00000372047.3_Silent_p.S197S|RALGDS_ENST00000393157.3_Silent_p.S208S|RALGDS_ENST00000372050.3_Silent_p.S209S|RALGDS_ENST00000542690.1_Silent_p.S280S NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 209 N-terminal Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) AGAAATCCTCCGAGTACTGGT 0.647000 T CIITA """PMBL, Hodgkin Lymphona, """ 5 33 0 0 0.014758 0 0 NUTM1 256646 broad.mit.edu 37 15 34649168 34649168 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr15:34649168G>T ENST00000537011.1 + 8 3341 c.2959G>T c.(2959-2961)Ggg>Tgg p.G987W NUTM1_ENST00000333756.4_Missense_Mutation_p.G959W|NUTM1_ENST00000438749.3_Missense_Mutation_p.G977W NUT midline carcinoma, family member 1 TTACACAACTGGGACTCCCAA 0.483000 15 26 4.93089e-13 5.39668e-13 0.002450 1 0 CEP350 9857 broad.mit.edu 37 1 179989427 179989427 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:179989427G>C ENST00000367607.3 + 12 2936 c.2518G>C c.(2518-2520)Gaa>Caa p.E840Q NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 840 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CAGCAGAATTGAAAGTGAAGC 0.448000 57 169 0 0 0.014410 0 0 DYNC1LI2 1783 broad.mit.edu 37 16 66766353 66766353 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:66766353G>C ENST00000258198.2 - 7 1024 c.818C>G c.(817-819)tCa>tGa p.S273* DYNC1LI2_ENST00000440564.2_Nonsense_Mutation_p.S234*|DYNC1LI2_ENST00000443351.2_Nonsense_Mutation_p.S196*|DYNC1LI2_ENST00000379482.2_Intron NM_006141.2 NP_006132.1 O43237 DC1L2_HUMAN dynein, cytoplasmic 1, light intermediate chain 2 273 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1) 15 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) TTCTTTCACTGATGTGTAAAT 0.378000 11 17 0 0 0.010729 0 0 TRIM26 7726 broad.mit.edu 37 6 30154334 30154334 + Splice_Site SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr6:30154334C>T ENST00000454678.2 - 10 1375 c.937_splice c.e10-1 p.V313_splice TRIM26_ENST00000453195.1_Splice_Site_p.V313_splice|TRIM26_ENST00000437089.1_Splice_Site_p.V313_splice NM_003449.4 NP_003440.1 Q12899 TRI26_HUMAN tripartite motif containing 26 313 B30.2/SPRY. DNA binding|zinc ion binding lung(1)|ovary(2) 3 GGGTGACGCTCACTGTGGGGA 0.468000 15 41 0 0 0.003163 0 0 NKAIN4 128414 broad.mit.edu 37 20 61873937 61873937 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr20:61873937G>A ENST00000370316.3 - 6 660 c.571C>T c.(571-573)Cat>Tat p.H191Y NKAIN4_ENST00000370307.2_Missense_Mutation_p.H129Y|NKAIN4_ENST00000370313.1_Intron|NKAIN4_ENST00000466885.1_5'UTR NM_152864.3 NP_690603.3 Q8IVV8 NKAI4_HUMAN Na+/K+ transporting ATPase interacting 4 191 integral to membrane|plasma membrane endometrium(2)|lung(1)|ovary(1) 4 all_cancers(38;2.72e-09) TCATTGACATGGTAGAGAGGA 0.453000 65 198 0 0 0.014410 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995473 140995473 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chrX:140995473G>A ENST00000285879.4 + 4 2569 c.2283G>A c.(2281-2283)gaG>gaA p.E761E MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 761 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) GTTTCCCTGAGAGTCCTCAGA 0.542000 HNSCC(15;0.026) 82 238 0 0 0.014410 0 0 LOC440040 440040 broad.mit.edu 37 11 49831788 49831788 + RNA SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:49831788C>T ENST00000527477.1 + 0 2013 CTGTATTCATCTCTGACCAGA 0.433000 17 202 0 0 0.007413 0 0 OBSCN 84033 broad.mit.edu 37 1 228459794 228459794 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:228459794C>T ENST00000570156.2 + 20 5932 c.5858C>T c.(5857-5859)tCg>tTg p.S1953L OBSCN_ENST00000284548.11_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.S425L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 934 Ig-like 19. 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) AGCTCCAGCTCGAAAATGCGT 0.667000 13 72 0 0 0.016723 0 0 MYLK3 91807 broad.mit.edu 37 16 46741676 46741676 + Splice_Site SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:46741676C>T ENST00000394809.4 - 13 2516 c.e13-1 MYLK3_ENST00000536476.1_Splice_Site|MYLK3_ENST00000562104.1_Splice_Site NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) AGAAATGTTTCTTGAGGCAAG 0.393000 13 47 0 0 0.016723 0 0 CPA6 57094 broad.mit.edu 37 8 68334861 68334861 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr8:68334861C>T ENST00000297770.4 - 11 1407 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K CPA6_ENST00000297769.4_Missense_Mutation_p.E154K NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 398 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding p.E398K(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TCACGTAGTTCGAAAGCAAAT 0.383000 38 94 0 0 0.006230 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45926322 45926322 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:45926322C>G ENST00000395629.2 + 9 2130 c.1800C>G c.(1798-1800)gtC>gtG p.V600V MAPK8IP1_ENST00000241014.2_Silent_p.V610V Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 610 PID. 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) CCAGCTGTGTCCTGGAGATCA 0.607000 28 86 0 0 0.004656 0 0 ACACB 32 broad.mit.edu 37 12 109673414 109673414 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:109673414G>C ENST00000338432.7 + 33 4527 c.4408G>C c.(4408-4410)Gaa>Caa p.E1470Q ACACB_ENST00000543201.1_Missense_Mutation_p.E136Q|ACACB_ENST00000377854.5_Missense_Mutation_p.E1400Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E1470Q O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1470 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) TTTGCAGAAAGAATTTCCCAA 0.328000 12 20 0 0 0.013537 0 0 WSB1 26118 broad.mit.edu 37 17 25628934 25628934 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:25628934G>T ENST00000262394.2 + 2 477 c.161G>T c.(160-162)gGa>gTa p.G54V WSB1_ENST00000581185.1_Missense_Mutation_p.G54V|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000427287.2_Missense_Mutation_p.G23V|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000583193.1_Intron NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 54 intracellular signal transduction intracellular protein binding lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TGGTCACAAGGACATCGCACA 0.413000 35 201 3.76114e-14 4.12987e-14 0.019004 1 0 EPHA5 2044 broad.mit.edu 37 4 66356413 66356413 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr4:66356413G>C ENST00000273854.3 - 5 1684 c.1084C>G c.(1084-1086)Cgg>Ggg p.R362G EPHA5_ENST00000354839.4_Missense_Mutation_p.R362G|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.R362G NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 362 Fibronectin type-III 1. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ATGGCATTCCGAGGAGCAGAG 0.393000 TSP Lung(17;0.13) 13 37 0 0 0.016723 0 0 COLGALT2 23127 broad.mit.edu 37 1 183938459 183938459 + Missense_Mutation SNP T T G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:183938459T>G ENST00000361927.4 - 5 1147 c.776A>C c.(775-777)gAc>gCc p.D259A COLGALT2_ENST00000546159.1_Missense_Mutation_p.D259A NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 CCAGGTGTAGTCCTGGTGTGG 0.537000 24 71 0 0 0.018920 0 0 RGP1 9827 broad.mit.edu 37 9 35750328 35750328 + Missense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:35750328C>A ENST00000378078.4 + 3 346 c.205C>A c.(205-207)Cag>Aag p.Q69K RGP1_ENST00000456972.2_Missense_Mutation_p.Q109K NM_001080496.2 NP_001073965.2 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 69 cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGACTCTAGTCAGCCAGATGT 0.612000 9 31 9.05144e-12 9.8743e-12 0.016723 1 0 STRIP1 85369 broad.mit.edu 37 1 110590408 110590408 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:110590408G>A ENST00000369795.3 + 15 1600 c.1578G>A c.(1576-1578)aaG>aaA p.K526K STRIP1_ENST00000461054.1_3'UTR|STRIP1_ENST00000369796.1_Silent_p.K431K NM_033088.2 NP_149079.2 striatin interacting protein 1 CCCTCCTGAAGATCCTGTTGG 0.517000 5 6 0 0 0.001168 0 0 DCAF17 80067 broad.mit.edu 37 2 172314572 172314572 + Missense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:172314572C>A ENST00000375255.3 + 7 1046 c.719C>A c.(718-720)aCc>aAc p.T240N DCAF17_ENST00000539783.1_Missense_Mutation_p.T240N|DCAF17_ENST00000468592.1_3'UTR NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 240 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 AGCTTCCAAACCATCGCTGAA 0.388000 81 231 1.21826e-31 1.36445e-31 0.014410 1 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:7578263G>A ENST00000420246.2 - 6 718 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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) CCTTCCACTCGGATAAGATGC 0.552000 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) 12 44 0 0 0.013537 0 0 WAS 7454 broad.mit.edu 37 X 48542320 48542320 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chrX:48542320C>G ENST00000376701.4 + 1 153 c.78C>G c.(76-78)ctC>ctG p.L26L WAS_ENST00000483750.1_3'UTR NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 26 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) CCTCCACCCTCCTCCAGGACC 0.617000 """Mis, N, F, S""" lymphoma 16 50 0 0 0.007413 0 0 LIPE 3991 broad.mit.edu 37 19 42912238 42912238 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:42912238A>G ENST00000244289.4 - 4 1822 c.1546T>C c.(1546-1548)Ttt>Ctt p.F516L LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 516 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TCGATGGCAAAGCGGCCGCTG 0.627000 14 74 0 0 0.004007 0 0 ZNF300 91975 broad.mit.edu 37 5 150276445 150276445 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr5:150276445C>T ENST00000446148.2 - 7 831 c.404G>A c.(403-405)gGt>gAt p.G135D ZNF300_ENST00000418587.2_Missense_Mutation_p.G83D|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.G119D|ZNF300_ENST00000394226.2_Missense_Mutation_p.G119D NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCACAATGAACCATCCCTTGT 0.413000 26 24 0 0 0.018920 0 0 OBSCN 84033 broad.mit.edu 37 1 228495827 228495827 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:228495827T>C ENST00000570156.2 + 58 15427 c.15353T>C c.(15352-15354)aTt>aCt p.I5118T OBSCN_ENST00000284548.11_Missense_Mutation_p.I4161T|OBSCN_ENST00000422127.1_Missense_Mutation_p.I4161T|OBSCN_ENST00000366709.4_Missense_Mutation_p.I1280T|OBSCN_ENST00000366707.4_Missense_Mutation_p.I1795T NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4161 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) GAGGTGACCATTGTACGGGGG 0.612000 14 68 0 0 0.002450 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318895 21318895 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:21318895C>T ENST00000583088.1 + 3 1136 c.241C>T c.(241-243)Cgg>Tgg p.R81W KCNJ12_ENST00000331718.5_Missense_Mutation_p.R81W NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 p.R81G(1) NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CATCCGCTGGCGGTACATGCT 0.577000 Prostate(3;0.18) 9 89 0 0 0.006214 0 0 GPR112 139378 broad.mit.edu 37 X 135431707 135431707 + Missense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chrX:135431707A>T ENST00000394143.1 + 6 6133 c.5842A>T c.(5842-5844)Aac>Tac p.N1948Y GPR112_ENST00000394141.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000370652.1_Missense_Mutation_p.N1948Y|GPR112_ENST00000412101.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000287534.4_Missense_Mutation_p.N1885Y NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1948 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) AATTCTTCCTAACCATGGGCT 0.418000 6 147 0 0 0.001984 0 0 KCNU1 157855 broad.mit.edu 37 8 36671785 36671785 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr8:36671785G>A ENST00000399881.3 + 8 830 c.793G>A c.(793-795)Gag>Aag p.E265K NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 265 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ATCATATTTTGAGTCAATTTA 0.418000 17 18 0 0 0.004990 0 0 VPS13A 23230 broad.mit.edu 37 9 79910535 79910535 + Silent SNP T T G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:79910535T>G ENST00000360280.3 + 33 3845 c.3585T>G c.(3583-3585)acT>acG p.T1195T VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.T1195T|VPS13A_ENST00000376636.3_Silent_p.T1156T|VPS13A_ENST00000357409.5_Silent_p.T1195T NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1195 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TGGCTGCTACTGGTGTAAAAG 0.433000 9 50 0 0 0.004482 0 0 ST5 6764 broad.mit.edu 37 11 8736175 8736175 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:8736175C>T ENST00000534127.1 - 10 2309 c.1924G>A c.(1924-1926)Gaa>Aaa p.E642K ST5_ENST00000357665.1_Missense_Mutation_p.E642K|ST5_ENST00000526757.1_Missense_Mutation_p.E222K|ST5_ENST00000526099.1_Missense_Mutation_p.E155K|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.E114K|ST5_ENST00000530438.1_Missense_Mutation_p.E222K|ST5_ENST00000313726.6_Missense_Mutation_p.E642K NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 642 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GATGCTGTTTCAATGCTGGAC 0.468000 6 27 0 0 0.001168 0 0 CANT1 124583 broad.mit.edu 37 17 76991155 76991155 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:76991155C>T ENST00000302345.2 - 3 1274 c.780G>A c.(778-780)gaG>gaA p.E260E CANT1_ENST00000392446.5_Silent_p.E260E|CANT1_ENST00000591773.1_Silent_p.E260E NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 260 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) ACACCCAGTTCTCGTGGTCCA 0.652000 T ETV4 prostate 6 13 0 0 0.001168 0 0 PHIP 55023 broad.mit.edu 37 6 79655871 79655871 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr6:79655871G>C ENST00000275034.4 - 38 4644 c.4477C>G c.(4477-4479)Cag>Gag p.Q1493E PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1493 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CCGTTTATCTGAGCAGCATTG 0.433000 7 89 0 0 0.001984 0 0 USP8 9101 broad.mit.edu 37 15 50774167 50774167 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr15:50774167G>C ENST00000433963.1 + 12 2208 c.1708G>C c.(1708-1710)Gat>Cat p.D570H USP8_ENST00000425032.3_Missense_Mutation_p.D493H|USP8_ENST00000396444.3_Missense_Mutation_p.D570H|USP8_ENST00000307179.4_Missense_Mutation_p.D570H NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 570 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) ATCTGTAGAAGATAGGGGGAA 0.418000 10 29 0 0 0.006214 0 0 PLCE1 51196 broad.mit.edu 37 10 95791784 95791784 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr10:95791784G>C ENST00000260766.3 + 2 1615 c.981G>C c.(979-981)agG>agC p.R327S PLCE1_ENST00000371380.2_Missense_Mutation_p.R327S NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 327 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TGTTAGTCAGGAGATTCTGTA 0.403000 13 60 0 0 0.016723 0 0 YWHAE 7531 broad.mit.edu 37 17 1303386 1303386 + Translation_Start_Site SNP G G C rs11552915 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:1303386G>C ENST00000571732.1 - 0 128 YWHAE_ENST00000264335.8_Missense_Mutation_p.L7V|YWHAE_ENST00000498643.1_5'UTR|YWHAE_ENST00000573026.1_Missense_Mutation_p.L7V|YWHAE_ENST00000575977.1_Missense_Mutation_p.L7V P62258 1433E_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) TGGTACACCAGATCCTCTCGA 0.662000 T """FAM22a, FAM22B""" edometrial stromal sarcoma Miller-Dieker lissencephaly syndrome 19 99 0 0 0.012319 0 0 PLEKHA2 59339 broad.mit.edu 37 8 38810819 38810819 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr8:38810819G>T ENST00000420274.1 + 9 941 c.707G>T c.(706-708)cGa>cTa p.R236L PLEKHA2_ENST00000521746.1_Intron|PLEKHA2_ENST00000388745.4_3'UTR NM_021623.1 NP_067636.1 Q9HB19 PKHA2_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 236 PH 2. positive regulation of cell-matrix adhesion cytoplasm|nucleus|plasma membrane|protein complex fibronectin binding|laminin binding p.R236L(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235) CACCAGGACCGAGAACCACTG 0.463000 87 224 2.16659e-41 2.4347e-41 0.014410 1 0 NCDN 23154 broad.mit.edu 37 1 36031042 36031042 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:36031042C>T ENST00000373243.2 + 7 2351 c.1968C>T c.(1966-1968)ccC>ccT p.P656P NCDN_ENST00000373253.3_Silent_p.P639P|NCDN_ENST00000356090.4_Silent_p.P656P NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 656 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGCTGGCCCCCGCTGCCCTGC 0.682000 11 20 0 0 0.008291 0 0 BPIFB2 80341 broad.mit.edu 37 20 31606867 31606867 + Splice_Site SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr20:31606867G>A ENST00000170150.3 + 10 1050 c.e10-1 NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 extracellular region lipid binding GCTGATTTCAGAGGTCGGATG 0.572000 44 83 0 0 0.011902 0 0 SACS 26278 broad.mit.edu 37 13 23913048 23913048 + Missense_Mutation SNP A A C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr13:23913048A>C ENST00000382298.3 - 10 5555 c.4967T>G c.(4966-4968)gTg>gGg p.V1656G SACS_ENST00000402364.1_Missense_Mutation_p.V906G|SACS_ENST00000382292.3_Missense_Mutation_p.V1656G NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1656 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AACTTCACTCACTTTTGCTTC 0.398000 16 41 0 0 0.004990 0 0 ALLC 55821 broad.mit.edu 37 2 3749215 3749215 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:3749215C>T ENST00000252505.3 + 11 1126 c.964C>T c.(964-966)Cca>Tca p.P322S ALLC_ENST00000471711.1_3'UTR NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 341 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) ACCACTGCTTCCAGTGACCAA 0.488000 HNSCC(21;0.051) 6 13 0 0 0.001168 0 0 MXRA5 25878 broad.mit.edu 37 X 3241681 3241681 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chrX:3241681C>T ENST00000217939.6 - 5 2199 c.2045G>A c.(2044-2046)cGc>cAc p.R682H NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 682 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGCACCTGGGCGTCTGCCTCT 0.532000 27 71 0 0 0.007291 0 0 LIMS2 55679 broad.mit.edu 37 2 128412466 128412466 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:128412466T>C ENST00000409455.1 - 3 796 c.161A>G c.(160-162)gAa>gGa p.E54G LIMS2_ENST00000324938.5_Missense_Mutation_p.E83G|LIMS2_ENST00000409808.2_Missense_Mutation_p.E54G|LIMS2_ENST00000355119.4_Missense_Mutation_p.E59G|LIMS2_ENST00000410011.1_Missense_Mutation_p.E54G|LIMS2_ENST00000545738.2_Missense_Mutation_p.E81G Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 59 LIM zinc-binding 1. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) CTTCCGGCCTTCAAACTGCAA 0.582000 3 23 0 0 0.004672 0 0 KCTD2 23510 broad.mit.edu 37 17 73049121 73049121 + Translation_Start_Site SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:73049121A>T ENST00000581589.1 + 0 446 KCTD2_ENST00000322444.6_Missense_Mutation_p.E154V Q14681 KCTD2_HUMAN potassium channel tetramerization domain containing 2 voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|lung(2) 3 all_lung(278;0.226) GTGCTGGAGGAAGCGGAGTTT 0.463000 20 21 0 0 0.012319 0 0 FOLH1 2346 broad.mit.edu 37 11 49229949 49229949 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:49229949G>A ENST00000256999.2 - 1 273 c.13C>T c.(13-15)Ctt>Ttt p.L5F FOLH1_ENST00000356696.3_Missense_Mutation_p.L5F|FOLH1_ENST00000340334.7_5'UTR|FOLH1_ENST00000343844.4_5'UTR NM_004476.1 NP_004467.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 5 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GTTTCGTGAAGGAGATTCCAC 0.701000 3 9 0 0 0.004672 0 0 MYH11 4629 broad.mit.edu 37 16 15832485 15832485 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:15832485C>T ENST00000338282.6 - 24 3164 c.3058G>A c.(3058-3060)Gaa>Aaa p.E1020K MYH11_ENST00000576790.1_Missense_Mutation_p.E1020K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1020K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1027K|MYH11_ENST00000452625.2_Missense_Mutation_p.E1027K NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1020 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TTGGCCTTTTCTTCCTCTTCT 0.358000 T CBFB AML 12 71 0 0 0.016723 0 0 FLT4 2324 broad.mit.edu 37 5 180047255 180047255 + Silent SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr5:180047255C>A ENST00000261937.6 - 17 2538 c.2460G>T c.(2458-2460)ggG>ggT p.G820G FLT4_ENST00000393347.3_Silent_p.G820G|FLT4_ENST00000502649.1_Silent_p.G820G NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 820 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GAGGCACCTCCCCGGGGTCCA 0.652000 49 48 1.86277e-20 2.07937e-20 0.014410 1 0 SIX6 4990 broad.mit.edu 37 14 60976681 60976681 + Nonsense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr14:60976681A>T ENST00000327720.5 + 1 1013 c.565A>T c.(565-567)Aag>Tag p.K189* NM_007374.2 NP_031400.2 O95475 SIX6_HUMAN SIX homeobox 6 189 organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2) 11 OV - Ovarian serous cystadenocarcinoma(108;0.088) GGCTGCAGCCAAGAACAGGTC 0.647000 6 12 0 0 0.001168 0 0 SLC19A1 6573 broad.mit.edu 37 21 46957703 46957703 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr21:46957703C>T ENST00000311124.4 - 2 323 c.171G>A c.(169-171)aaG>aaA p.K57K SLC19A1_ENST00000567670.1_Silent_p.K57K|SLC19A1_ENST00000380010.4_Silent_p.K57K NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 57 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GCGTGAAGTTCTTGTCGGGCC 0.687000 7 7 0 0 0.001984 0 0 BCAS1 8537 broad.mit.edu 37 20 52609131 52609131 + Missense_Mutation SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr20:52609131T>A ENST00000371440.3 - 7 1319 c.982A>T c.(982-984)Atc>Ttc p.I328F BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000395961.3_Intron|BCAS1_ENST00000434986.2_Missense_Mutation_p.I41F O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 309 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CTAGCCTGGATCTCGGATGTC 0.453000 8 36 0 0 0.003080 0 0 DTX1 1840 broad.mit.edu 37 12 113496163 113496163 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:113496163G>A ENST00000257600.3 + 1 669 c.166G>A c.(166-168)Gct>Act p.A56T NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 56 WWE 1. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GAAGGAGGACGCTCGCGGTTC 0.647000 35 89 0 0 0.015359 0 0 IRX1 79192 broad.mit.edu 37 5 3600291 3600291 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr5:3600291C>G ENST00000302006.3 + 2 1281 c.1229C>G c.(1228-1230)cCa>cGa p.P410R 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 CCTGCACCTCCACCACCGCAG 0.701000 15 69 0 0 0.003163 0 0 LDHC 3948 broad.mit.edu 37 11 18456337 18456337 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:18456337C>T ENST00000541669.1 + 5 580 c.469C>T c.(469-471)Cgt>Tgt p.R157C LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Missense_Mutation_p.R157C|LDHC_ENST00000536880.1_Missense_Mutation_p.R143C|LDHC_ENST00000546146.1_Missense_Mutation_p.R99C|LDHC_ENST00000544105.1_Missense_Mutation_p.R157C|LDHC_ENST00000280704.4_Missense_Mutation_p.R157C P07864 LDHC_HUMAN lactate dehydrogenase C 157 glycolysis cytoplasm binding|L-lactate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) ACCTGTAACTCGTGTAATTGG 0.368000 40 75 0 0 0.006999 0 0 ME2 4200 broad.mit.edu 37 18 48447048 48447048 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr18:48447048C>G ENST00000321341.5 + 9 1134 c.862C>G c.(862-864)Cta>Gta p.L288V ME2_ENST00000382927.3_Missense_Mutation_p.L288V NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 288 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) TGCAGTAGCTCTAGCAGGTCT 0.348000 40 50 0 0 0.009718 0 0 ELAVL4 1996 broad.mit.edu 37 1 50610702 50610702 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:50610702A>G ENST00000371824.1 + 2 340 c.83A>G c.(82-84)aAc>aGc p.N28S ELAVL4_ENST00000357083.4_Missense_Mutation_p.N45S|ELAVL4_ENST00000371823.4_Missense_Mutation_p.N28S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.N28S|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000448907.2_Missense_Mutation_p.N31S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000371819.1_Missense_Mutation_p.N33S P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 28 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 TCCAGCAACAACAGAAACTGT 0.418000 12 25 0 0 0.010729 0 0 ONECUT2 9480 broad.mit.edu 37 18 55143901 55143901 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr18:55143901C>T ENST00000491143.2 + 2 1493 c.1461C>T c.(1459-1461)gaC>gaT p.D487D NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 487 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) AGTGGCAAGACGATCTGAGCA 0.572000 7 35 0 0 0.003080 0 0 KIF26B 55083 broad.mit.edu 37 1 245772637 245772637 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:245772637C>G ENST00000366518.4 + 5 682 c.578C>G c.(577-579)tCt>tGt p.S193C KIF26B_ENST00000407071.2_Missense_Mutation_p.S574C Q2KJY2 KI26B_HUMAN kinesin family member 26B 574 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) TGTGCCATCTCTTGGCTCTTC 0.537000 5 12 0 0 0.014758 0 0 SHROOM3 57619 broad.mit.edu 37 4 77675521 77675521 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr4:77675521C>T ENST00000296043.6 + 7 4838 c.3885C>T c.(3883-3885)ctC>ctT p.L1295L NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1295 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TCCACCATCTCACCCCTCGTT 0.542000 41 133 0 0 0.007835 0 0 SLC7A6OS 84138 broad.mit.edu 37 16 68344297 68344297 + Silent SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:68344297A>G ENST00000263997.6 - 2 430 c.412T>C c.(412-414)Ttg>Ctg p.L138L NM_032178.2 NP_115554.2 Q96CW6 S7A6O_HUMAN solute carrier family 7, member 6 opposite strand 138 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) AGGTCTAACAACTGAAAGCCC 0.627000 10 12 0 0 0.006214 0 0 UNC13B 10497 broad.mit.edu 37 9 35385812 35385812 + Splice_Site SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:35385812T>C ENST00000378495.3 + 22 2940 c.e22+2 UNC13B_ENST00000396787.1_Splice_Site|UNC13B_ENST00000378496.4_Splice_Site NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) AGAATGAAGGTAAGAAATGGA 0.483000 27 97 0 0 0.006320 0 0 DCAF15 90379 broad.mit.edu 37 19 14070284 14070284 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:14070284G>A ENST00000254337.6 + 7 1233 c.1212G>A c.(1210-1212)ccG>ccA p.P404P NM_138353.2 NP_612362.2 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 404 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1) 11 GGACGGAGCCGGAGGATGGTG 0.687000 25 49 0 0 0.016522 0 0 LRP1 4035 broad.mit.edu 37 12 57538855 57538855 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:57538855G>A ENST00000243077.3 + 5 1015 c.549G>A c.(547-549)ccG>ccA p.P183P RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000338962.4_Silent_p.P183P|LRP1_ENST00000554174.1_Silent_p.P183P|LRP1_ENST00000553277.1_Silent_p.P183P NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 183 EGF-like 2; calcium-binding (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCCTGCAGCCGGATAACCGCT 0.572000 17 31 0 0 0.004007 0 0 ZNF449 203523 broad.mit.edu 37 X 134494925 134494925 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chrX:134494925C>T ENST00000339249.4 + 5 1621 c.1481C>T c.(1480-1482)aCt>aTt p.T494I NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 494 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) TACAAGTGTACTCATTGTTCT 0.393000 92 135 0 0 0.014410 0 0 TRIO 7204 broad.mit.edu 37 5 14406048 14406048 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr5:14406048A>G ENST00000344204.4 + 32 4832 c.4808A>G c.(4807-4809)gAg>gGg p.E1603G TRIO_ENST00000537187.1_Missense_Mutation_p.E1603G NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1603 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GCCCTGAAGGAGCCCATTCAC 0.577000 10 25 0 0 0.006214 0 0 PITPNM1 9600 broad.mit.edu 37 11 67267280 67267280 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:67267280T>C ENST00000356404.3 - 8 1310 c.1085A>G c.(1084-1086)gAg>gGg p.E362G PITPNM1_ENST00000436757.2_Missense_Mutation_p.E362G|PITPNM1_ENST00000534749.1_Missense_Mutation_p.E362G NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 362 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 GGGGAAGACCTCCTCACTGTC 0.592000 10 121 0 0 0.008291 0 0 ZNF513 130557 broad.mit.edu 37 2 27601470 27601470 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:27601470C>T ENST00000323703.6 - 3 861 c.663G>A c.(661-663)ctG>ctA p.L221L ZNF513_ENST00000407879.1_Silent_p.L159L|ZNF513_ENST00000491924.1_5'UTR NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 221 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATGCCGCCTCAGGTTGCCCA 0.682000 15 46 0 0 0.004007 0 0 AP3B2 8120 broad.mit.edu 37 15 83335612 83335612 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr15:83335612C>T ENST00000261722.3 - 15 1946 c.1739G>A c.(1738-1740)cGc>cAc p.R580H RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R580H|AP3B2_ENST00000535348.1_Missense_Mutation_p.R548H NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 580 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) CCGGGTGAAGCGCGCCCGGTC 0.597000 17 66 0 0 0.006122 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635216 122635216 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:122635216T>C ENST00000249284.2 - 1 538 c.473A>G c.(472-474)gAg>gGg p.E158G NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 158 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGGTAGATGCTCCATGGTGAG 0.383000 13 46 0 0 0.016723 0 0 NIN 51199 broad.mit.edu 37 14 51224285 51224285 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr14:51224285G>A ENST00000245441.5 - 18 3653 c.3463C>T c.(3463-3465)Ctg>Ttg p.L1155L NIN_ENST00000324330.9_Silent_p.L1155L|NIN_ENST00000453196.1_Silent_p.L1155L|NIN_ENST00000530997.2_Silent_p.L1155L|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Silent_p.L1155L NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1155 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) GTACTTCCCAGGTCCCGGACC 0.478000 T PDGFRB MPD 23 208 0 0 0.014323 0 0 EPHB6 2051 broad.mit.edu 37 7 142566409 142566409 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:142566409G>A ENST00000392957.2 + 15 2985 c.2198G>A c.(2197-2199)cGg>cAg p.R733Q EPHB6_ENST00000442129.1_Missense_Mutation_p.R733Q|EPHB6_ENST00000411471.2_Missense_Mutation_p.R456Q NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 733 Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity 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) AACATCCTGCGGCTGGAGGGC 0.677000 21 36 0 0 0.010504 0 0 CCSER1 401145 broad.mit.edu 37 4 91230090 91230090 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr4:91230090A>G ENST00000509176.1 + 2 943 c.655A>G c.(655-657)Aga>Gga p.R219G CCSER1_ENST00000432775.2_Missense_Mutation_p.R219G|CCSER1_ENST00000333691.8_Missense_Mutation_p.R219G NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 GTACCAAGAGAGAGAACCTGT 0.408000 12 30 0 0 0.010729 0 0 ZNF443 10224 broad.mit.edu 37 19 12541320 12541320 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:12541320C>T ENST00000301547.5 - 4 1863 c.1666G>A c.(1666-1668)Gga>Aga p.G556R CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 556 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 GGCTTCTCTCCAGAGTGAATT 0.388000 11 49 0 0 0.010729 0 0 PLCZ1 89869 broad.mit.edu 37 12 18889205 18889205 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:18889205C>G ENST00000447925.2 - 3 348 c.79G>C c.(79-81)Gaa>Caa p.E27Q RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E27Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E29Q|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E29Q NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 29 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) TCTAATTTTTCAAGTAACCTC 0.353000 8 26 0 0 0.003080 0 0 TCF21 6943 broad.mit.edu 37 6 134210544 134210544 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr6:134210544C>T ENST00000367882.4 + 1 269 c.9C>T c.(7-9)acC>acT p.T3T RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.T3T NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 3 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.T3T(1) cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) ACATGTCCACCGGCTCCCTCA 0.522000 14 91 0 0 0.006122 0 0 GDF3 9573 broad.mit.edu 37 12 7842822 7842822 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:7842822C>G ENST00000329913.3 - 2 794 c.747G>C c.(745-747)agG>agC p.R249S NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 249 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TGGCTGCTCTCCTTTTCCGAG 0.537000 20 59 0 0 0.014323 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3669239 3669239 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr20:3669239C>T ENST00000344754.4 - 21 5097 c.5098G>A c.(5098-5100)Gag>Aag p.E1700K SIGLEC1_ENST00000202578.4_Silent_p.V1675V NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1700 cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GTTGAGGTCTCACATGTGGCT 0.612000 5 18 0 0 0.014758 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857127 9857127 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:9857127G>C ENST00000396573.2 - 14 4583 c.4274C>G c.(4273-4275)tCg>tGg p.S1425W GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1425W|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1425W NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1425 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 p.S1425L(1) 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) AACATGCTCCGAAATATACAC 0.473000 17 34 0 0 0.004007 0 0 COL14A1 7373 broad.mit.edu 37 8 121290786 121290786 + Silent SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr8:121290786G>C ENST00000297848.3 + 28 3720 c.3450G>C c.(3448-3450)gtG>gtC p.V1150V COL14A1_ENST00000309791.4_Silent_p.V1150V|COL14A1_ENST00000247781.3_Silent_p.V1055V NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1150 VWFA 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AAGATGATGTGAACAAAATCT 0.353000 18 18 0 0 0.008871 0 0 COL3A1 1281 broad.mit.edu 37 2 189864617 189864617 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:189864617C>G ENST00000304636.3 + 32 2449 c.2279C>G c.(2278-2280)cCa>cGa p.P760R COL3A1_ENST00000317840.5_Missense_Mutation_p.P760R NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 760 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AAAGATGGCCCAAGGGTGAGT 0.438000 3 19 0 0 0.009096 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38591744 38591744 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:38591744C>G ENST00000222345.6 + 6 2416 c.1907C>G c.(1906-1908)tCc>tGc p.S636C NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 636 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGCCAGAGCTCCGAGGAGGAG 0.607000 8 28 0 0 0.004482 0 0 OTOP1 133060 broad.mit.edu 37 4 4199228 4199228 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr4:4199228C>G ENST00000296358.4 - 5 1357 c.1333G>C c.(1333-1335)Gaa>Caa p.E445Q NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 445 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGAATGGATTCAAAGATGAAG 0.542000 10 62 0 0 0.006214 0 0 SLC27A4 10999 broad.mit.edu 37 9 131115719 131115719 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:131115719G>A ENST00000300456.3 + 9 1340 c.1223G>A c.(1222-1224)cGc>cAc p.R408H SLC27A4_ENST00000372870.1_Intron NM_005094.3 NP_005085.2 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid transporter), member 4 408 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 TTCAATAGCCGCATCCTGTCC 0.617000 4 91 0 0 0.009096 0 0 KL 9365 broad.mit.edu 37 13 33590903 33590903 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr13:33590903C>G ENST00000380099.3 + 1 333 c.325C>G c.(325-327)Ctg>Gtg p.L109V KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 109 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GAACGCCAGTCTGCCGTTGGG 0.711000 4 23 0 0 0.009096 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr3:126707544T>G ENST00000251772.4 + 1 108 c.39T>G c.(37-39)ggT>ggG p.G13G PLXNA1_ENST00000393409.2_Silent_p.G36G Q9UIW2 PLXA1_HUMAN plexin A1 36 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 5 29 0 0 0.003080 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432019 117432019 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:117432019G>C ENST00000160373.3 - 4 1322 c.1231C>G c.(1231-1233)Caa>Gaa p.Q411E NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 411 Pro-rich. 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) CCTGGTGTTTGAGCGGTGGGA 0.522000 34 115 0 0 0.013726 0 0 BDNF 627 broad.mit.edu 37 11 27679532 27679532 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:27679532C>T ENST00000525528.1 - 1 1673 c.580G>A c.(580-582)Gaa>Aaa p.E194K BDNF_ENST00000395981.3_Missense_Mutation_p.E194K|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000439476.2_Missense_Mutation_p.E194K|BDNF_ENST00000314915.6_Missense_Mutation_p.E202K|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395980.2_Missense_Mutation_p.E194K|BDNF_ENST00000438929.1_Missense_Mutation_p.E276K|BDNF_ENST00000530861.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000356660.4_Missense_Mutation_p.E194K|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395978.3_Missense_Mutation_p.E194K|BDNF_ENST00000418212.1_Missense_Mutation_p.E194K|BDNF_ENST00000395986.2_Missense_Mutation_p.E209K|BDNF_ENST00000532997.1_Missense_Mutation_p.E194K|BDNF_ENST00000533131.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.E194K|BDNF_ENST00000525950.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.E194K NM_170735.5 NP_733931.1 P23560 BDNF_HUMAN brain-derived neurotrophic factor 194 extracellular region growth factor activity breast(1)|large_intestine(3)|lung(2) 6 CTGCAGCCTTCTTTTGTGTAA 0.512000 38 108 0 0 0.005524 0 0 MAP1LC3B2 643246 broad.mit.edu 37 12 117013807 117013807 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:117013807C>G ENST00000306985.4 + 2 214 c.60C>G c.(58-60)gtC>gtG p.V20V MAP1LC3B2_ENST00000556529.1_Silent_p.V20V NM_001085481.1 NP_001078950.1 A6NCE7 MP3B2_HUMAN microtubule-associated protein 1 light chain 3 beta 2 20 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule breast(1)|large_intestine(2)|lung(3) 6 TAGAAGATGTCCGACTTATTC 0.537000 17 96 0 0 0.004007 0 0 FANCL 55120 broad.mit.edu 37 2 58388764 58388764 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:58388764T>C ENST00000402135.3 - 12 964 c.928A>G c.(928-930)Atg>Gtg p.M310V FANCL_ENST00000403676.1_Missense_Mutation_p.M188V|FANCL_ENST00000403295.3_Missense_Mutation_p.M277V|FANCL_ENST00000233741.4_Missense_Mutation_p.M305V NM_001114636.1 NP_001108108.1 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L 305 DNA repair cytoplasm|nucleoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2) 8 CCACAATCCATAGTAAAATCC 0.333000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 2 19 0 0 0.004672 0 0 ZNF697 90874 broad.mit.edu 37 1 120165638 120165638 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:120165638C>T ENST00000421812.2 - 3 1447 c.1328G>A c.(1327-1329)gGg>gAg p.G443E NM_001080470.1 NP_001073939.1 Q5TEC3 ZN697_HUMAN zinc finger protein 697 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) GAAGCCCTTCCCGCACTCGCG 0.667000 3 6 0 0 0.004672 0 0 COLEC12 81035 broad.mit.edu 37 18 335145 335145 + Missense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr18:335145C>A ENST00000400256.3 - 6 1620 c.1413G>T c.(1411-1413)gaG>gaT p.E471D NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 471 Collagen-like 1. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GCTCCCCCTTCTCTCCTTTCT 0.632000 14 42 0.00185496 0.00194771 0.016723 1 0 ROPN1B 152015 broad.mit.edu 37 3 125694519 125694519 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr3:125694519C>G ENST00000514116.1 + 4 545 c.230C>G c.(229-231)tCt>tGt p.S77C ROPN1B_ENST00000511082.1_5'UTR|ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000251776.4_Missense_Mutation_p.S77C Q9BZX4 ROP1B_HUMAN rhophilin associated tail protein 1B 77 acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis cytoplasm|flagellum cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(114;0.151) ATCCTGCATTCTCAGGTAAGG 0.567000 18 42 0 0 0.006122 0 0 ANO4 121601 broad.mit.edu 37 12 101504254 101504254 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:101504254A>G ENST00000392979.3 + 22 2478 c.2117A>G c.(2116-2118)aAc>aGc p.N706S ANO4_ENST00000299222.9_Missense_Mutation_p.N261S|ANO4_ENST00000550015.1_Missense_Mutation_p.N261S|ANO4_ENST00000392977.3_Missense_Mutation_p.N741S NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 741 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TTACTGAATAACATAATTGAA 0.398000 HNSCC(74;0.22) 3 73 0 0 0.004672 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276316 15276316 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:15276316C>T ENST00000263388.2 - 31 5753 c.5678G>A c.(5677-5679)cGa>cAa p.R1893Q NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1893 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) AGAGCGGTTTCGGATGAGAAT 0.592000 6 22 0 0 0.001168 0 0 SCAF4 57466 broad.mit.edu 37 21 33057747 33057747 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr21:33057747G>A ENST00000286835.7 - 18 2642 c.2260C>T c.(2260-2262)Cct>Tct p.P754S SCAF4_ENST00000434667.3_Missense_Mutation_p.P739S|SCAF4_ENST00000399804.1_Missense_Mutation_p.P754S NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 754 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TGAGGAGGAGGAATGGATACT 0.453000 12 63 0 0 0.004990 0 0 RABGAP1 23637 broad.mit.edu 37 9 125861042 125861042 + Nonsense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:125861042A>T ENST00000373647.4 + 23 2916 c.2782A>T c.(2782-2784)Aaa>Taa p.K928* RABGAP1_ENST00000373643.5_Nonsense_Mutation_p.K267* NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 928 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 ATCTGAGATTAAAAAAAACAG 0.398000 10 30 0 0 0.010729 0 0 FLG 2312 broad.mit.edu 37 1 152279854 152279854 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:152279854G>A ENST00000368799.1 - 3 7543 c.7508C>T c.(7507-7509)gCc>gTc p.A2503V FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2503 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) CCCATGGGAGGCATCAGACCT 0.547000 Ichthyosis 183 353 0 0 0.014410 0 0 CBLL1 79872 broad.mit.edu 37 7 107398754 107398754 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:107398754G>A ENST00000440859.2 + 6 1074 c.607G>A c.(607-609)Gaa>Aaa p.E203K CBLL1_ENST00000222597.2_Missense_Mutation_p.E202K|CBLL1_ENST00000415884.2_3'UTR NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 203 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 TGCTTCACTTGAAAATGTTCA 0.458000 57 125 0 0 0.014410 0 0 KAL1 3730 broad.mit.edu 37 X 8522000 8522000 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chrX:8522000C>G ENST00000262648.3 - 9 1496 c.1347G>C c.(1345-1347)aaG>aaC p.K449N NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 449 Fibronectin type-III 3. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 TACCTTCTGTCTTCTTCCAGT 0.413000 5 21 0 0 0.001168 0 0 CREBBP 1387 broad.mit.edu 37 16 3777767 3777767 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:3777767G>A ENST00000262367.5 - 31 8090 c.7281C>T c.(7279-7281)gtC>gtT p.V2427V CREBBP_ENST00000382070.3_Silent_p.V2389V NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 2427 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) TGGTGTCCCCGACCAGGGACA 0.562000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 36 131 0 0 0.006230 0 0 C15orf27 123591 broad.mit.edu 37 15 76467994 76467994 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr15:76467994G>A ENST00000388942.3 + 8 1023 c.747G>A c.(745-747)acG>acA p.T249T RP11-593F23.1_ENST00000558424.1_RNA NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 249 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 AGAGGCTGACGCAGATCTGTC 0.562000 14 55 0 0 0.004007 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495873 6495873 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:6495873G>A ENST00000264071.2 - 4 1008 c.637C>T c.(637-639)Cgc>Tgc p.R213C TUBB4A_ENST00000540257.1_Missense_Mutation_p.R213C P04350 TBB4_HUMAN tubulin, beta 4A class IVa 213 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity TTGAGGGTGCGGAAACAGATG 0.627000 31 105 0 0 0.008361 0 0 CXXC1 30827 broad.mit.edu 37 18 47810844 47810844 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr18:47810844G>A ENST00000285106.6 - 9 1823 c.1109C>T c.(1108-1110)gCg>gTg p.A370V CXXC1_ENST00000589940.1_Missense_Mutation_p.A370V|CXXC1_ENST00000412036.2_Missense_Mutation_p.A374V NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 370 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 GGGCAGTGACGCAGGGTCCTT 0.597000 13 120 0 0 0.002450 0 0 APBB1 322 broad.mit.edu 37 11 6431880 6431880 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:6431880G>C ENST00000389906.2 - 2 797 c.698C>G c.(697-699)tCc>tGc p.S233C APBB1_ENST00000311051.3_Missense_Mutation_p.S233C|APBB1_ENST00000299402.6_Missense_Mutation_p.S233C|APBB1_ENST00000533407.1_Intron NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 233 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GGAGCCATAGGAGGGGCTGCC 0.592000 11 50 0 0 0.010729 0 0 SLC6A20 54716 broad.mit.edu 37 3 45804560 45804560 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr3:45804560C>G ENST00000358525.4 - 9 1423 c.1308G>C c.(1306-1308)ctG>ctC p.L436L SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000456124.2_Silent_p.L436L|SLC6A20_ENST00000353278.4_Silent_p.L399L NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 436 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CAAGGCACACCAGACCTGGGG 0.592000 13 55 0 0 0.004007 0 0 SKI 6497 broad.mit.edu 37 1 2160913 2160913 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:2160913C>T ENST00000378536.4 + 1 780 c.708C>T c.(706-708)ctC>ctT p.L236L NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 236 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) TGCCCGAGCTCTACAGCAGCC 0.682000 10 17 0 0 0.006214 0 0 LONRF2 164832 broad.mit.edu 37 2 100916183 100916183 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:100916183C>T ENST00000393437.3 - 5 1902 c.1263G>A c.(1261-1263)aaG>aaA p.K421K LONRF2_ENST00000409647.1_Silent_p.K178K NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 421 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 ACTGACCTTTCTTGGGAATTT 0.408000 22 68 0 0 0.014323 0 0 GYG1 2992 broad.mit.edu 37 3 148712030 148712030 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr3:148712030G>A ENST00000345003.4 + 2 409 c.109G>A c.(109-111)Gtg>Atg p.V37M GYG1_ENST00000483267.1_Missense_Mutation_p.V37M|GYG1_ENST00000484197.1_Missense_Mutation_p.V37M|GYG1_ENST00000296048.6_Missense_Mutation_p.V37M NM_004130.3 NP_004121.2 P46976 GLYG_HUMAN glycogenin 1 37 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol glycogenin glucosyltransferase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GAGGCTGGTCGTGCTCGCCAC 0.587000 18 65 0 0 0.012319 0 0 CTAG2 30848 broad.mit.edu 37 X 153880412 153880412 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chrX:153880412C>T ENST00000369585.3 - 3 586 c.534G>A c.(532-534)caG>caA p.Q178Q CTAG2_ENST00000247306.4_3'UTR NM_172377.3 NP_758965.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 0 centrosome central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 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) CTTAGCGCCTCTGCCCTGAGG 0.602000 22 56 0 0 0.014323 0 0 MYOCD 93649 broad.mit.edu 37 17 12642624 12642624 + Silent SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:12642624A>T ENST00000425538.1 + 7 896 c.696A>T c.(694-696)atA>atT p.I232I MYOCD_ENST00000395988.1_Silent_p.I136I|MYOCD_ENST00000343344.4_Silent_p.I232I NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 232 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) GCACCCCCATAGCCGTGCATG 0.587000 32 39 0 0 0.012213 0 0 RANBP3L 202151 broad.mit.edu 37 5 36265595 36265595 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr5:36265595G>C ENST00000296604.3 - 5 781 c.296C>G c.(295-297)tCa>tGa p.S99* RANBP3L_ENST00000515759.1_Nonsense_Mutation_p.S99*|RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.S124* NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like 99 intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) CACAAGAGCTGATGTCATAAA 0.299000 6 32 0 0 0.001168 0 0 DNAH11 8701 broad.mit.edu 37 7 21646281 21646281 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:21646281T>C ENST00000328843.6 + 20 3813 c.3782T>C c.(3781-3783)tTc>tCc p.F1261S DNAH11_ENST00000409508.3_Missense_Mutation_p.F1261S Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1261 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 CAGGCAGAGTTCAGAGAGAGA 0.338000 Kartagener syndrome 3 10 0 0 0.009096 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582563 136582563 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr6:136582563C>T ENST00000531224.1 - 12 2849 c.2597G>A c.(2596-2598)cGt>cAt p.R866H BCLAF1_ENST00000392348.2_Missense_Mutation_p.R815H|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R817H|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R84H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R815H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R864H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R693H NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 866 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) AAAAGTACCACGACCTCTTCC 0.408000 25 227 0 0 0.018920 0 0 OR14J1 442191 broad.mit.edu 37 6 29274980 29274980 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr6:29274980A>G ENST00000377160.2 + 1 578 c.514A>G c.(514-516)Att>Gtt p.I172V NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 GAAGAGAGTCATTCACCAATT 0.478000 42 90 0 0 0.010771 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88307677 88307677 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:88307677G>C ENST00000357081.3 - 3 228 c.84C>G c.(82-84)atC>atG p.I28M AGTPBP1_ENST00000376109.3_Missense_Mutation_p.I80M|AGTPBP1_ENST00000337006.4_De_novo_Start_InFrame|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_De_novo_Start_InFrame|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.I28M|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.I28M Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 28 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 GCTCAGCATTGATCTTCTCCA 0.388000 6 25 0 0 0.001168 0 0 ELP4 26610 broad.mit.edu 37 11 31531473 31531473 + Missense_Mutation SNP T T C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:31531473T>C ENST00000395934.2 + 1 149 c.142T>C c.(142-144)Tcc>Ccc p.S48P ELP4_ENST00000350638.5_Missense_Mutation_p.S48P|ELP4_ENST00000379163.5_Missense_Mutation_p.S48P Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 48 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) TCGACTGGTGTCCATTGCGGG 0.627000 27 59 0 0 0.003954 0 0 SLC25A10 1468 broad.mit.edu 37 17 79673961 79673961 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:79673961C>T ENST00000571730.1 + 4 502 c.371C>T c.(370-372)gCg>gTg p.A124V MRPL12_ENST00000333676.3_Missense_Mutation_p.A124V|SLC25A10_ENST00000541223.1_Missense_Mutation_p.A124V Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 0 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) ATCCCCATAGCGAAAGAACGG 0.562000 17 13 0 0 0.006122 0 0 UNC13C 440279 broad.mit.edu 37 15 54916087 54916087 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr15:54916087G>T ENST00000545554.1 + 31 6294 c.6294G>T c.(6292-6294)aaG>aaT p.K2098N UNC13C_ENST00000260323.11_Missense_Mutation_p.K2098N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K2096N|UNC13C_ENST00000539562.2_Missense_Mutation_p.K19N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2098 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GAGACAAGAAGAGAAAACAAG 0.403000 19 45 8.28177e-16 9.15354e-16 0.007413 1 0 SNCAIP 9627 broad.mit.edu 37 5 121761101 121761101 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr5:121761101C>G ENST00000261367.7 + 7 2626 c.1198C>G c.(1198-1200)Cta>Gta p.L400V SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000504884.2_Missense_Mutation_p.S62C|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L353V Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 353 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) TGGAAACAATCTATTACATAT 0.428000 55 54 0 0 0.014410 0 0 CEBPG 1054 broad.mit.edu 37 19 33870422 33870422 + Nonsense_Mutation SNP A A T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:33870422A>T ENST00000284000.3 + 2 939 c.277A>T c.(277-279)Aga>Tga p.R93* NM_001252296.1|NM_001806.3 NP_001239225.1|NP_001797.1 P53567 CEBPG_HUMAN CCAAT/enhancer binding protein (C/EBP), gamma 93 B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2) 7 Esophageal squamous(110;0.137) CACACTGCAGAGAGTCAATCA 0.438000 9 12 0 0 0.006214 0 0 NRG3 10718 broad.mit.edu 37 10 84745207 84745207 + Missense_Mutation SNP G G T rs150401464 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr10:84745207G>T ENST00000372142.2 + 11 1620 c.1346G>T c.(1345-1347)cGg>cTg p.R449L NRG3_ENST00000545131.1_Missense_Mutation_p.R296L|NRG3_ENST00000537893.1_Missense_Mutation_p.R296L|NRG3_ENST00000404547.1_Missense_Mutation_p.R670L|NRG3_ENST00000404576.2_Missense_Mutation_p.R450L|NRG3_ENST00000372141.2_Missense_Mutation_p.R646L|NRG3_ENST00000556918.1_Missense_Mutation_p.R476L NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 670 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GATGCCAGACGGTCAGAAGAC 0.483000 15 29 2.32078e-09 2.51543e-09 0.003163 1 0 IGLL1 3543 broad.mit.edu 37 22 23915612 23915612 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr22:23915612C>G ENST00000330377.2 - 3 600 c.483G>C c.(481-483)gaG>gaC p.E161D IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA NM_020070.3 NP_064455.1 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 161 C region (By similarity to lambda light- chain).|Ig-like C1-type. immune response extracellular region|membrane kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1) 12 GCGTGGTCATCTCCACGCCCT 0.582000 3 154 0 0 0.009096 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213277818 213277818 + Silent SNP C C A rs56056039 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:213277818C>A ENST00000366960.3 + 4 435 c.285C>A c.(283-285)atC>atA p.I95I RPS6KC1_ENST00000366959.3_Silent_p.I83I|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 95 PX. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AAACTGTTATCGAAGAGAGAA 0.373000 8 50 3.09899e-07 3.32671e-07 0.004482 1 0 LAMA2 3908 broad.mit.edu 37 6 129635848 129635848 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr6:129635848G>A ENST00000421865.2 + 24 3509 c.3460G>A c.(3460-3462)Gga>Aga p.G1154R NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1154 Laminin EGF-like 13. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGGCAAATTCGGACTCGATGC 0.527000 9 37 0 0 0.006214 0 0 ITGA2 3673 broad.mit.edu 37 5 52351412 52351412 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr5:52351412C>T ENST00000296585.5 + 8 967 c.824C>T c.(823-825)aCg>aTg p.T275M NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 275 VWFA. axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CGAAGTGCTACGAAAGTAATG 0.373000 15 58 0 0 0.002450 0 0 DOK6 220164 broad.mit.edu 37 18 67365664 67365664 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr18:67365664C>G ENST00000382713.5 + 5 624 c.434C>G c.(433-435)cCt>cGt p.P145R DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 145 IRS-type PTB. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) TATCTTATGCCTACACCAAAC 0.398000 11 37 0 0 0.010729 0 0 CPSF7 79869 broad.mit.edu 37 11 61188974 61188974 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:61188974G>C ENST00000340437.4 - 3 370 c.290C>G c.(289-291)cCt>cGt p.P97R CPSF7_ENST00000439958.3_Missense_Mutation_p.P54R|CPSF7_ENST00000394888.4_Missense_Mutation_p.P54R|CPSF7_ENST00000541963.1_Missense_Mutation_p.P54R|CPSF7_ENST00000448745.1_Missense_Mutation_p.P54R NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 54 RRM. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 CTGGCGAACAGGAGGAGGTGG 0.522000 19 79 0 0 0.006122 0 0 PITPNM3 83394 broad.mit.edu 37 17 6373604 6373604 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:6373604G>A ENST00000262483.8 - 13 1836 c.1749C>T c.(1747-1749)gaC>gaT p.D583D ACKR6_ENST00000421306.3_Silent_p.D547D|ACKR6_ENST00000576664.1_5'UTR NM_031220.3 NP_112497.2 AGGCCACCACGTCTGTGGACT 0.652000 5 16 0 0 0.014758 0 0 C4orf33 132321 broad.mit.edu 37 4 130023861 130023861 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr4:130023861G>A ENST00000281146.4 + 2 817 c.96G>A c.(94-96)atG>atA p.M32I C4orf33_ENST00000502887.1_Missense_Mutation_p.M32I|C4orf33_ENST00000425929.1_Missense_Mutation_p.M32I NM_173487.2 NP_775758.2 Q8N1A6 CD033_HUMAN chromosome 4 open reading frame 33 32 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 10 GAGTGATGATGGACATTAGTG 0.438000 13 48 0 0 0.002450 0 0 GRIP1 23426 broad.mit.edu 37 12 66990676 66990676 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:66990676C>T ENST00000359742.4 - 2 327 c.87G>A c.(85-87)caG>caA p.Q29Q GRIP1_ENST00000398016.3_Silent_p.Q29Q|GRIP1_ENST00000286445.7_Silent_p.Q29Q Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 29 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GCGGCTTTGTCTGGCTGGCGG 0.448000 19 62 0 0 0.012319 0 0 METTL21C 196541 broad.mit.edu 37 13 103338495 103338495 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr13:103338495G>A ENST00000267273.6 - 4 686 c.681C>T c.(679-681)ttC>ttT p.F227F NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 227 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 AGTCGGTGCTGAACCTGAATT 0.443000 12 42 0 0 0.010729 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011649 46011649 + Missense_Mutation SNP A A C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr21:46011649A>C ENST00000400368.1 - 1 737 c.717T>G c.(715-717)tgT>tgG p.C239W TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 239 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 AGGTGGGCACACAGCACACAG 0.657000 70 197 0 0 0.014410 0 0 DNAH10 196385 broad.mit.edu 37 12 124333280 124333280 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:124333280G>A ENST00000409039.3 + 33 5624 c.5599G>A c.(5599-5601)Gtg>Atg p.V1867M NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1867 AAA 1 (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) TTCCTAGGCCGTGGGGAAGAT 0.443000 4 25 0 0 0.009096 0 0 CCDC33 80125 broad.mit.edu 37 15 74559050 74559050 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr15:74559050G>A ENST00000321288.5 + 6 960 c.960G>A c.(958-960)aaG>aaA p.K320K CCDC33_ENST00000398814.3_Silent_p.K117K Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 320 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 ACAACAGAAAGAAACAGGAGT 0.473000 29 107 0 0 0.008361 0 0 ZNF521 25925 broad.mit.edu 37 18 22806343 22806343 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr18:22806343G>C ENST00000361524.3 - 4 1687 c.1539C>G c.(1537-1539)ttC>ttG p.F513L ZNF521_ENST00000538137.2_Missense_Mutation_p.F513L|ZNF521_ENST00000584787.1_Missense_Mutation_p.F293L NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 513 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGGGACAAAAGAATGCATTAC 0.458000 T PAX5 ALL 21 51 0 0 0.008871 0 0 PLCE1 51196 broad.mit.edu 37 10 95791831 95791831 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr10:95791831G>C ENST00000260766.3 + 2 1662 c.1028G>C c.(1027-1029)gGa>gCa p.G343A PLCE1_ENST00000371380.2_Missense_Mutation_p.G343A NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 343 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GTGTATACTGGAACAAGAGCA 0.423000 9 39 0 0 0.004482 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1812845 1812845 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:1812845G>A ENST00000250894.4 + 16 1890 c.1733G>A c.(1732-1734)cGc>cAc p.R578H MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R572H NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 578 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 AGCTTCAGCCGCCTCTTCAGC 0.677000 28 66 0 0 0.004656 0 0 CKLF 51192 broad.mit.edu 37 16 66597116 66597116 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:66597116G>A ENST00000264001.4 + 3 478 c.329G>A c.(328-330)gGa>gAa p.G110E CKLF_ENST00000351137.4_Missense_Mutation_p.G57E|CKLF_ENST00000345436.4_Intron|CKLF_ENST00000417030.2_Missense_Mutation_p.G110E|CKLF_ENST00000563092.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000532838.1_Missense_Mutation_p.G57E|CKLF_ENST00000362093.4_Intron NM_016951.3 NP_058647.1 chemokine-like factor endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217) ACAGTTGGTGGAGGGGTAAGT 0.368000 8 35 0 0 0.004482 0 0 SETDB1 9869 broad.mit.edu 37 1 150900253 150900253 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:150900253G>A ENST00000271640.5 + 2 253 c.63G>A c.(61-63)gaG>gaA p.E21E SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Silent_p.E21E|SETDB1_ENST00000368962.2_Silent_p.E21E|SETDB1_ENST00000368963.1_Silent_p.E21E NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) AGTCTGAAGAGATTGCAGAGC 0.463000 17 92 0 0 0.004990 0 0 PLCE1 51196 broad.mit.edu 37 10 95791437 95791437 + Missense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr10:95791437G>T ENST00000260766.3 + 2 1268 c.634G>T c.(634-636)Gat>Tat p.D212Y PLCE1_ENST00000371380.2_Missense_Mutation_p.D212Y NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 212 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity p.D212N(1) liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AATTTTAGACGATTGTGGAAA 0.388000 16 45 1.62849e-17 1.80585e-17 0.004007 1 0 SALL1 6299 broad.mit.edu 37 16 51174819 51174819 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:51174819C>T ENST00000440970.1 - 2 1454 c.1023G>A c.(1021-1023)gcG>gcA p.A341A SALL1_ENST00000251020.4_Silent_p.A438A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 438 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A438A(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AAGTACTTTTCGCTTCAAAGG 0.488000 33 95 0 0 0.013726 0 0 SIGLEC12 89858 broad.mit.edu 37 19 51994964 51994964 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:51994964C>T ENST00000291707.3 - 8 1774 c.1719G>A c.(1717-1719)gcG>gcA p.A573A SIGLEC12_ENST00000598614.1_Silent_p.A455A NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 573 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) ACTGAGGCCTCGCTTTGTGGA 0.597000 16 159 0 0 0.006122 0 0 HLA-G 3135 broad.mit.edu 37 6 29796372 29796372 + Silent SNP C C T rs141841160 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr6:29796372C>T ENST00000428701.1 + 4 574 c.396C>T c.(394-396)cgC>cgT p.R132R HLA-G_ENST00000360323.6_Silent_p.R132R|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Silent_p.R137R NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 132 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 CCGACGGACGCCTCCTCCGCG 0.672000 23 83 0 0 0.003954 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899295 112899295 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:112899295G>C ENST00000374530.3 + 8 1651 c.1471G>C c.(1471-1473)Gag>Cag p.E491Q AKAP2_ENST00000434623.2_Missense_Mutation_p.E349Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.E349Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E491Q|AKAP2_ENST00000259318.7_Missense_Mutation_p.E260Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.E491Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.E491Q NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 260 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GGAACATCTGGAGTCGCACAA 0.557000 11 18 0 0 0.013537 0 0 POLR1A 25885 broad.mit.edu 37 2 86267597 86267597 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:86267597C>T ENST00000263857.6 - 25 4036 c.3658G>A c.(3658-3660)Gga>Aga p.G1220R POLR1A_ENST00000409681.1_Missense_Mutation_p.G1220R O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1220 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GAGGGCTCTCCGATGCTCTGG 0.627000 11 41 0 0 0.008291 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496770 20496770 + RNA SNP T T C rs3865047 by1000genomes TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr15:20496770T>C ENST00000555186.1 + 0 823 NR_038836.1 TTATAGTGTGTATTTTAATTA 0.353000 8 12 0 0 0.003080 0 0 BRWD3 254065 broad.mit.edu 37 X 79980467 79980467 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chrX:79980467C>T ENST00000373275.4 - 15 1702 c.1486G>A c.(1486-1488)Gac>Aac p.D496N NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 496 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GTCCCCCGGTCAAGGTCCCAA 0.388000 8 14 0 0 0.004482 0 0 AMBP 259 broad.mit.edu 37 9 116823771 116823771 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:116823771G>A ENST00000265132.3 - 8 1048 c.786C>T c.(784-786)ggC>ggT p.G262G NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 262 BPTI/Kunitz inhibitor 1. cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) CCATGCAGCCGCCGTACTGGA 0.577000 24 86 0 0 0.018920 0 0 ABCC8 6833 broad.mit.edu 37 11 17418492 17418492 + Missense_Mutation SNP C C G rs138642224 byFrequency TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:17418492C>G ENST00000302539.4 - 33 4218 c.4093G>C c.(4093-4095)Gtc>Ctc p.V1365L ABCC8_ENST00000389817.3_Missense_Mutation_p.V1364L NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1364 ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGGCATTGACGTGCTTCAGC 0.612000 11 46 0 0 0.010729 0 0 OSBPL2 9885 broad.mit.edu 37 20 60835072 60835072 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr20:60835072G>A ENST00000313733.3 + 3 275 c.73G>A c.(73-75)Gag>Aag p.E25K OSBPL2_ENST00000358053.2_Splice_Site|OSBPL2_ENST00000439951.2_Intron NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 25 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GGAATTTTCAGAGGCAAATCA 0.423000 23 55 0 0 0.004656 0 0 TRIP11 9321 broad.mit.edu 37 14 92461767 92461767 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr14:92461767G>A ENST00000267622.4 - 14 5358 c.4985C>T c.(4984-4986)tCt>tTt p.S1662F NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1662 QLSVSQEQ -> RFCLSGT (in Ref. 1; AAD09135). 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) TTGTTCCTGAGAGACAGAAAG 0.458000 T PDGFRB AML 24 23 0 0 0.014323 0 0 CECR1 51816 broad.mit.edu 37 22 17662734 17662734 + Missense_Mutation SNP T T A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr22:17662734T>A ENST00000399839.1 - 9 1688 c.1418A>T c.(1417-1419)aAa>aTa p.K473I CECR1_ENST00000449907.2_Missense_Mutation_p.K431I|CECR1_ENST00000330232.4_Missense_Mutation_p.K232I|CECR1_ENST00000262607.3_Missense_Mutation_p.K473I|CECR1_ENST00000399837.2_Missense_Mutation_p.K473I Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 473 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) GGCCAGCTGTTTGAGGGTCCT 0.547000 26 50 0 0 0.004656 0 0 GLIS3 169792 broad.mit.edu 37 9 3937164 3937164 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:3937164G>A ENST00000324333.10 - 4 1464 c.1271C>T c.(1270-1272)tCa>tTa p.S424L GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.S579L NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 424 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) TTCAAGCCTTGAAAAGGCCTT 0.458000 9 69 0 0 0.008291 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564443 176564443 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:176564443G>A ENST00000367662.3 + 3 2867 c.1703G>A c.(1702-1704)aGc>aAc p.S568N PAPPA2_ENST00000367661.3_Missense_Mutation_p.S568N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 568 Metalloprotease. S -> N (in Ref. 2; AAL17780). 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 TGGCAGCTGAGCGTCCACCAG 0.567000 21 81 0 0 0.010504 0 0 FAM135B 51059 broad.mit.edu 37 8 139263255 139263255 + Missense_Mutation SNP A A C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr8:139263255A>C ENST00000395297.1 - 6 541 c.371T>G c.(370-372)tTg>tGg p.L124W NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 124 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CACATCCCTCAACCTAGAAGG 0.592000 HNSCC(54;0.14) 42 109 0 0 0.011902 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183044 11183044 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:11183044C>G ENST00000390675.2 - 1 962 c.891G>C c.(889-891)gtG>gtC p.V297V TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 297 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 CCCAGTACCTCACTTGCCGCA 0.428000 48 182 0 0 0.014410 0 0 FGGY 55277 broad.mit.edu 37 1 59812064 59812064 + Silent SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:59812064G>C ENST00000371218.4 + 4 643 c.459G>C c.(457-459)ctG>ctC p.L153L FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Silent_p.L153L NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 153 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TTCTGTGGCTGAAAGAGGTGA 0.498000 9 19 0 0 0.006214 0 0 TTBK1 84630 broad.mit.edu 37 6 43214425 43214425 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr6:43214425G>A ENST00000259750.4 + 2 110 c.27G>A c.(25-27)aaG>aaA p.K9K NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 9 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCGCCCTTAAGGACGAAACCA 0.672000 10 34 0 0 0.006214 0 0 CD1D 912 broad.mit.edu 37 1 158152778 158152778 + Missense_Mutation SNP C C T rs139209490 by1000genomes TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr1:158152778C>T ENST00000368171.3 + 5 1217 c.718C>T c.(718-720)Cgg>Tgg p.R240W NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 240 Ig-like. antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) GAAGTGGATGCGGGGTGAGCA 0.632000 5 142 0 0 0.014758 0 0 PFKP 5214 broad.mit.edu 37 10 3178029 3178029 + Splice_Site SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr10:3178029G>C ENST00000381075.2 + 23 2424 c.2201_splice c.e23+1 p.E734_splice PFKP_ENST00000381125.4_Splice_Site_p.E742_splice|PFKP_ENST00000381072.1_Splice_Site_p.E160_splice NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 742 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) AACGGATTTTGAGTAAGTTGG 0.453000 6 23 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179474959 179474959 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:179474959C>T ENST00000589042.1 - 271 51518 c.51294G>A c.(51292-51294)atG>atA p.M17098I TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M15457I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M14530I|TTN_ENST00000342175.6_Missense_Mutation_p.M8225I|TTN_ENST00000359218.5_Missense_Mutation_p.M8158I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M8033I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15457 Ig-like 102. 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) TCTCACCAGACATGACTGGTA 0.443000 144 169 0 0 0.014410 0 0 ZNF415 55786 broad.mit.edu 37 19 53612314 53612314 + Nonsense_Mutation SNP G G T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr19:53612314G>T ENST00000455735.2 - 7 1448 c.1128C>A c.(1126-1128)taC>taA p.Y376* ZNF415_ENST00000500065.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Y376*|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Y340*|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.Y98*|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.Y315*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000597748.1_3'UTR Q09FC8 ZN415_HUMAN zinc finger protein 415 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) CTTTACATGTGTAAGGTTTCT 0.398000 40 41 5.71845e-15 6.29967e-15 0.005524 1 0 SLC5A7 60482 broad.mit.edu 37 2 108608589 108608589 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:108608589A>G ENST00000264047.2 + 3 482 c.206A>G c.(205-207)aAt>aGt p.N69S SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Missense_Mutation_p.N69S NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 69 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) GGGTATATCAATGGCACAGCT 0.458000 16 24 0 0 0.004990 0 0 DMD 1756 broad.mit.edu 37 X 31986549 31986549 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chrX:31986549G>C ENST00000357033.4 - 45 6727 c.6521C>G c.(6520-6522)tCa>tGa p.S2174* DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.S2170*|DMD_ENST00000541735.1_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 2174 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) ATCTGTTTTTGAGGATTGCTG 0.458000 23 72 0 0 0.012319 0 0 C7orf33 202865 broad.mit.edu 37 7 148288041 148288041 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr7:148288041C>G ENST00000307003.2 + 1 385 c.24C>G c.(22-24)ctC>ctG p.L8L NM_145304.2 NP_660347.1 Q8WU49 CG033_HUMAN chromosome 7 open reading frame 33 8 central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2) 14 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TTCAAAGCCTCAGCCTTGAAG 0.537000 10 65 0 0 0.008291 0 0 IDUA 3425 broad.mit.edu 37 4 995557 995557 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr4:995557C>G ENST00000453894.1 + 5 627 c.539C>G c.(538-540)aCc>aGc p.T180S IDUA_ENST00000247933.4_Missense_Mutation_p.T227S|IDUA_ENST00000514224.1_Missense_Mutation_p.T95S P35475 IDUA_HUMAN iduronidase, alpha-L- 227 disaccharide metabolic process lysosome cation binding|L-iduronidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) TCCTTCCACACCCCACCGCGA 0.711000 3 16 0 0 0.009096 0 0 KCTD5 54442 broad.mit.edu 37 16 2757382 2757382 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:2757382G>C ENST00000564195.1 + 5 676 c.667G>C c.(667-669)Gaa>Caa p.E223Q KCTD5_ENST00000301738.4_3'UTR Q9NXV2 KCTD5_HUMAN potassium channel tetramerization domain containing 5 0 interspecies interaction between organisms cytosol|nucleus|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 GAGATGTAATGAACTGCCATG 0.433000 9 25 0 0 0.006214 0 0 TNIK 23043 broad.mit.edu 37 3 170802911 170802911 + Silent SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr3:170802911G>A ENST00000436636.2 - 25 3338 c.2994C>T c.(2992-2994)gcC>gcT p.A998A TNIK_ENST00000341852.6_Silent_p.A914A|TNIK_ENST00000357327.5_Silent_p.A969A|TNIK_ENST00000488470.1_Silent_p.A943A|TNIK_ENST00000460047.1_Silent_p.A935A|TNIK_ENST00000470834.1_Silent_p.A961A|TNIK_ENST00000538048.1_Silent_p.A950A|TNIK_ENST00000475336.1_Silent_p.A906A|TNIK_ENST00000284483.8_Silent_p.A990A|TNIK_ENST00000369326.5_Silent_p.A976A NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 998 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity p.A998A(2) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GCTTACCTGCGGCTGATGATT 0.483000 3 8 0 0 0.004672 0 0 DLK1 8788 broad.mit.edu 37 14 101201194 101201194 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr14:101201194G>A ENST00000341267.4 + 5 1355 c.1113G>A c.(1111-1113)atG>atA p.M371I DLK1_ENST00000331224.6_Missense_Mutation_p.M298I NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 371 multicellular organismal development extracellular space|integral to membrane|soluble fraction breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) AGATCGACATGACCACCTTCA 0.562000 35 97 0 0 0.004878 0 0 MKL1 57591 broad.mit.edu 37 22 40815316 40815316 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr22:40815316G>A ENST00000396617.3 - 12 1716 c.1126C>T c.(1126-1128)Cgc>Tgc p.R376C MKL1_ENST00000407029.1_Missense_Mutation_p.R376C|MKL1_ENST00000402042.1_Missense_Mutation_p.R326C|MKL1_ENST00000355630.3_Missense_Mutation_p.R376C Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 376 SAP. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GCTCGAAGGCGCTCAATCAGC 0.607000 T RBM15 acute megakaryocytic leukemia 8 26 0 0 0.006214 0 0 PLEC 5339 broad.mit.edu 37 8 144998292 144998292 + Silent SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr8:144998292C>T ENST00000322810.4 - 31 6385 c.6216G>A c.(6214-6216)gaG>gaA p.E2072E PLEC_ENST00000354958.2_Silent_p.E1913E|PLEC_ENST00000345136.3_Silent_p.E1935E|PLEC_ENST00000354589.3_Silent_p.E1935E|PLEC_ENST00000356346.3_Silent_p.E1921E|PLEC_ENST00000527096.1_Silent_p.E1958E|PLEC_ENST00000398774.2_Silent_p.E1903E|PLEC_ENST00000357649.2_Silent_p.E1939E|PLEC_ENST00000436759.2_Silent_p.E1962E NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2072 Central fibrous rod domain. 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 CGGCCGCCTTCTCGAAGCTCG 0.701000 15 28 0 0 0.002450 0 0 WDR16 146845 broad.mit.edu 37 17 9545105 9545105 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:9545105C>G ENST00000352665.5 + 13 1709 c.1640C>G c.(1639-1641)tCg>tGg p.S547W RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.S557W|WDR16_ENST00000396219.3_Missense_Mutation_p.S479W NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 547 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 CTGTCTGGGTCGATAAATGGC 0.458000 20 71 0 0 0.010504 0 0 MARCH4 57574 broad.mit.edu 37 2 217124226 217124226 + Nonsense_Mutation SNP C C A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:217124226C>A ENST00000273067.4 - 4 2808 c.1042G>T c.(1042-1044)Gaa>Taa p.E348* NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 348 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GTCTCCTCTTCCGAGGAGGGG 0.622000 18 27 5.35267e-07 5.70951e-07 0.007413 1 0 SSH3 54961 broad.mit.edu 37 11 67077772 67077772 + Nonsense_Mutation SNP G G T rs148598265 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:67077772G>T ENST00000308127.4 + 13 1823 c.1645G>T c.(1645-1647)Gag>Tag p.E549* SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 549 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCCCTCCTTGGAGCTGGAGAG 0.632000 13 188 4.3838e-07 4.69095e-07 0.016723 1 0 TRMU 55687 broad.mit.edu 37 22 46751462 46751462 + Missense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr22:46751462G>C ENST00000290846.4 + 9 1335 c.995G>C c.(994-996)cGa>cCa p.R332P TRMU_ENST00000381019.3_Missense_Mutation_p.R332P NM_018006.4 NP_060476.2 O75648 MTU1_HUMAN tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 332 mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1) 10 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) TGCCACTTCCGATTCCGCCAC 0.642000 OREG0026654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 33 0 0 0.010504 0 0 PPP1R1A 5502 broad.mit.edu 37 12 54975892 54975892 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr12:54975892G>A ENST00000257905.8 - 5 441 c.271C>T c.(271-273)Cac>Tac p.H91Y PPP1R1A_ENST00000547431.1_Intron NM_006741.3 NP_006732.3 Q13522 PPR1A_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1A 91 glycogen metabolic process|signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity lung(2) 2 TGCCCCAGGTGATGTTCAACC 0.592000 12 27 0 0 0.002450 0 0 TCN1 6947 broad.mit.edu 37 11 59631479 59631479 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr11:59631479C>T ENST00000257264.3 - 2 264 c.160G>A c.(160-162)Gct>Act p.A54T TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 54 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACATTGACAGCGCTGGTTCCC 0.418000 45 150 0 0 0.009718 0 0 ACVR1C 130399 broad.mit.edu 37 2 158390507 158390507 + Missense_Mutation SNP C C T TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:158390507C>T ENST00000243349.7 - 9 1765 c.1405G>A c.(1405-1407)Gga>Aga p.G469R ACVR1C_ENST00000335450.7_Missense_Mutation_p.G389R|ACVR1C_ENST00000348328.5_Missense_Mutation_p.G312R|ACVR1C_ENST00000409680.3_Missense_Mutation_p.G419R NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 469 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 CGGGCCGCTCCGTTGGCATAC 0.388000 17 109 0 0 0.006122 0 0 C6 729 broad.mit.edu 37 5 41143093 41143093 + Missense_Mutation SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr5:41143093C>G ENST00000263413.3 - 18 2903 c.2639G>C c.(2638-2640)tGt>tCt p.C880S C6_ENST00000337836.5_Missense_Mutation_p.C880S NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 880 C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TAGGCAGACACATTTGGAAGT 0.458000 12 53 0 0 0.013537 0 0 ROCK2 9475 broad.mit.edu 37 2 11389837 11389837 + Frame_Shift_Del DEL A A - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:11389837delA ENST00000315872.6 - 4 860 c.412delT c.(412-414)ggfs p.W138fs ROCK2_ENST00000462366.1_5'UTR NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 138 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) CTTTCTTCCCAAAAAAAGGCA 0.358 32 118 --- --- --- --- PMS1 5378 broad.mit.edu 37 2 190660652 190660653 + Frame_Shift_Ins INS - - G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr2:190660652_190660653insG ENST00000441310.2 + 3 523_524 c.290_291insG c.(289-291)tggfs p.W97fs PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409823.3_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000374826.4_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000409985.1_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000447232.2_Frame_Shift_Ins_p.W97fs NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 97 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) GGAGAAGCCTTGGGGTCAATTT 0.342 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 35 84 --- --- --- --- PARL 55486 broad.mit.edu 37 3 183551318 183551318 + Frame_Shift_Del DEL A A - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr3:183551318delA ENST00000317096.4 - 9 1050 c.990delT c.(988-990)ttfs p.F330fs PARL_ENST00000435888.1_Frame_Shift_Del_p.F246fs|PARL_ENST00000311101.5_Frame_Shift_Del_p.F280fs NM_018622.5 NP_061092.3 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like 330 proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 17 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCGCATGATCAAAAAATTTCC 0.473 25 59 --- --- --- --- MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - - A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr6:76599857_76599858insA ENST00000369981.3 + 26 3021_3022 c.2742_2743insA c.(2740-2745)caaaaafs p.QK914fs MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs Q9UM54 MYO6_HUMAN myosin VI 914 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding p.K917fs*10(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 7 66 --- --- --- --- LINC00475 158314 broad.mit.edu 37 9 94904432 94904432 + RNA DEL G G - rs58003635 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr9:94904432delG ENST00000416438.2 + 0 184 NR_027341.1 GGCCTTCTTTGGGGGGGGGGT 0.612 6 0 --- --- --- --- CDK4 1019 broad.mit.edu 37 12 58145367 58145369 + In_Frame_Del DEL CCT CCT - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:58145367_58145369delCCT ENST00000257904.6 - 2 497_499 c.132_134delAGG c.(130-135)ggt>gg p.GG46del CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_In_Frame_Del_p.GG46del|CDK4_ENST00000549606.1_Intron NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 46 Poly-Gly.|Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) GCCTCCTCCACCTCCTCCTCCAT 0.567 Mis melanoma Hereditary Melanoma 20 68 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 7 200 --- --- --- --- MAP1A 4130 broad.mit.edu 37 15 43820775 43820775 + Frame_Shift_Del DEL C C - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr15:43820775delC ENST00000382031.1 + 5 7849 c.7818delC c.(7816-7818)aafs p.N2606fs MAP1A_ENST00000300231.5_Frame_Shift_Del_p.N2368fs|MAP1A_ENST00000399453.1_Frame_Shift_Del_p.N2368fs P78559 MAP1A_HUMAN microtubule-associated protein 1A 2368 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 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;3.05e-06) Estramustine(DB01196) CCAGCCCTAACCCCCCAGGCC 0.642 12 38 --- --- --- --- TRIM65 201292 broad.mit.edu 37 17 73888194 73888194 + Frame_Shift_Del DEL G G - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 8b5bfd48-6872-43dc-8c75-4c56f159eed4 g.chr17:73888194delG ENST00000269383.3 - 4 882 c.817delC c.(817-819)tgfs p.L273fs NM_001256124.1|NM_173547.3 NP_001243053.1|NP_775818.2 Q6PJ69 TRI65_HUMAN tripartite motif containing 65 273 intracellular zinc ion binding endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) AGGTCACCCAGCTGTTGGTCT 0.632 2 4 --- --- --- --- PMS1 5378 broad.mit.edu 37 2 190660652 190660653 + Frame_Shift_Ins INS - - G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr2:190660652_190660653insG ENST00000441310.2 + 3 523_524 c.290_291insG c.(289-291)tggfs p.W97fs PMS1_ENST00000447232.2_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000374826.4_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409823.3_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000409985.1_Frame_Shift_Ins_p.W97fs NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 97 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) GGAGAAGCCTTGGGGTCAATTT 0.342 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 35 84 --- --- --- --- PARL 55486 broad.mit.edu 37 3 183551318 183551318 + Frame_Shift_Del DEL A A - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr3:183551318delA ENST00000317096.4 - 9 1050 c.990delT c.(988-990)ttfs p.F330fs PARL_ENST00000435888.1_Frame_Shift_Del_p.F246fs|PARL_ENST00000311101.5_Frame_Shift_Del_p.F280fs NM_018622.5 NP_061092.3 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like 330 proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 17 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCGCATGATCAAAAAATTTCC 0.473 25 59 --- --- --- --- LINC00475 158314 broad.mit.edu 37 9 94904432 94904432 + RNA DEL G G - rs58003635 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr9:94904432delG ENST00000416438.2 + 0 184 NR_027341.1 GGCCTTCTTTGGGGGGGGGGT 0.612 6 0 --- --- --- --- TMEM121 80757 broad.mit.edu 37 14 105996050 105996052 + In_Frame_Del DEL GCC GCC - rs5811180 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr14:105996050_105996052delGCC ENST00000392519.2 + 2 1043_1045 c.879_881delGCC c.(877-882)gtg>gt p.VP293del TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del NM_025268.2 NP_079544.1 Q9BTD3 TM121_HUMAN transmembrane protein 121 293 Pro-rich. integral to membrane endometrium(2)|lung(1) 3 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) GCAACTCGGTgccgccgccgccg 0.768 7 14 --- --- --- --- MAP1A 4130 broad.mit.edu 37 15 43820775 43820775 + Frame_Shift_Del DEL C C - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr15:43820775delC ENST00000382031.1 + 5 7849 c.7818delC c.(7816-7818)aafs p.N2606fs MAP1A_ENST00000300231.5_Frame_Shift_Del_p.N2368fs|MAP1A_ENST00000399453.1_Frame_Shift_Del_p.N2368fs P78559 MAP1A_HUMAN microtubule-associated protein 1A 2368 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 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;3.05e-06) Estramustine(DB01196) CCAGCCCTAACCCCCCAGGCC 0.642 12 38 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 8 234 --- --- --- --- TRIM65 201292 broad.mit.edu 37 17 73888194 73888194 + Frame_Shift_Del DEL G G - TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4aba107-a048-46e5-b0aa-901f076b6f61 4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1 g.chr17:73888194delG ENST00000269383.3 - 4 882 c.817delC c.(817-819)tgfs p.L273fs NM_001256124.1|NM_173547.3 NP_001243053.1|NP_775818.2 Q6PJ69 TRI65_HUMAN tripartite motif containing 65 273 intracellular zinc ion binding endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) AGGTCACCCAGCTGTTGGTCT 0.632 2 4 --- --- --- ---