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 RLTPR 146206 broad.mit.edu 37 16 67683016 67683016 + Silent SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67683016C>A ENST00000334583.6 + 18 1957 c.1629C>A c.(1627-1629)atC>atA p.I543I RLTPR_ENST00000545661.1_Silent_p.I507I NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 543 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) TGCTGGCCATCGGGAGAAGCC 0.627000 20 7 1.64113e-05 1.72692e-05 1 1 0 RBFOX1 54715 broad.mit.edu 37 16 7760721 7760721 + Nonsense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:7760721G>T ENST00000340209.4 + 13 1480 c.1183G>T c.(1183-1185)Gga>Tga p.G395* RBFOX1_ENST00000311745.5_Nonsense_Mutation_p.G411*|RBFOX1_ENST00000553186.1_Nonsense_Mutation_p.G363*|RBFOX1_ENST00000436368.2_Nonsense_Mutation_p.G385*|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000550418.1_Nonsense_Mutation_p.G390*|RBFOX1_ENST00000547338.1_Nonsense_Mutation_p.G390*|RBFOX1_ENST00000552089.1_3'UTR Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 390 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 ATACCGAGGGGGATACAACCG 0.448000 30 39 8.88839e-20 1.034e-19 1 1 0 LACTB2 51110 broad.mit.edu 37 8 71570032 71570032 + Silent SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:71570032C>G ENST00000276590.4 - 3 408 c.372G>C c.(370-372)ctG>ctC p.L124L RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000522447.1_Silent_p.L124L NM_016027.2 NP_057111.1 Q53H82 LACB2_HUMAN lactamase, beta 2 124 hydrolase activity|metal ion binding endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1) 10 Breast(64;0.0716) Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166) CTCCATCTTTCAGATAAACAT 0.383000 27 37 0 0 1 0 0 PHGDH 26227 broad.mit.edu 37 1 120263919 120263919 + Missense_Mutation SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:120263919A>G ENST00000369407.3 + 1 1670 c.163A>G c.(163-165)Aca>Gca p.T55A PHGDH_ENST00000369409.4_Missense_Mutation_p.T89A O43175 SERA_HUMAN phosphoglycerate dehydrogenase 89 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) GGAGGCCGCAACAAGGAAGGG 0.577000 46 58 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95523458 95523458 + Silent SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:95523458G>C ENST00000297591.5 - 13 3420 c.3345C>G c.(3343-3345)ctC>ctG p.L1115L KIAA1429_ENST00000421249.2_Silent_p.L1115L|KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000437199.1_Silent_p.L1115L NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1115 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GCTCTGAAAGGAGTATGAGTC 0.373000 17 17 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126239153 126239153 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr4:126239153C>T ENST00000394329.3 + 1 1600 c.1587C>T c.(1585-1587)agC>agT p.S529S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 529 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTGAACATAGCGGCCTCGTGA 0.542000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 6 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97822808 97822808 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:97822808G>C ENST00000297293.5 + 11 3324 c.3031G>C c.(3031-3033)Gac>Cac p.D1011H NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1011 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) AGCGCTACTGGACTCTTTAGG 0.582000 18 72 0 0 1 0 0 AXIN2 8313 broad.mit.edu 37 17 63554681 63554681 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:63554681C>T ENST00000307078.5 - 2 371 c.58G>A c.(58-60)Gat>Aat p.D20N AXIN2_ENST00000375702.5_Missense_Mutation_p.D20N|CTD-2535L24.2_ENST00000577662.1_3'UTR NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 20 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 CGCGGGGCATCCTCACGGAAG 0.617000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 5 61 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9517533 9517533 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:9517533C>G ENST00000402466.1 + 24 4561 c.3793C>G c.(3793-3795)Cag>Gag p.Q1265E SETD5_ENST00000302463.6_Missense_Mutation_p.Q1265E|SETD5_ENST00000407969.1_Missense_Mutation_p.Q1382E|SETD5_ENST00000402198.1_Missense_Mutation_p.Q1363E|SETD5_ENST00000406341.1_Missense_Mutation_p.Q1363E Q9C0A6 SETD5_HUMAN SET domain containing 5 1363 Ser-rich. NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) TTCAGTTTCTCAGTCCAGCAC 0.552000 43 3 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49496313 49496313 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:49496313C>A ENST00000323798.3 - 1 253 c.57G>T c.(55-57)gaG>gaT p.E19D GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_De_novo_Start_InFrame|GYS1_ENST00000540532.1_De_novo_Start_InFrame|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.E19D NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 19 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CGAATTCATCCTCCCAGTCCT 0.617000 OREG0025612 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 63 4.35082e-09 4.75101e-09 1 1 0 OPA3 80207 broad.mit.edu 37 19 46032601 46032601 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:46032601C>G ENST00000323060.3 - 2 333 c.256G>C c.(256-258)Gag>Cag p.E86Q NM_001017989.2 NP_001017989.2 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 86 response to stimulus|visual perception mitochondrion cervix(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) ATGATGCCCTCGCCCAGCAGC 0.627000 55 36 0 0 1 0 0 YTHDC2 64848 broad.mit.edu 37 5 112889544 112889544 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr5:112889544G>A ENST00000161863.4 + 15 2258 c.2045G>A c.(2044-2046)cGa>cAa p.R682Q YTHDC2_ENST00000515883.1_Missense_Mutation_p.R682Q NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 682 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GCAGGTGTTCGAAAAATAGTA 0.284000 13 7 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72347066 72347066 + Missense_Mutation SNP A A C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr18:72347066A>C ENST00000299687.5 + 1 4091 c.4091A>C c.(4090-4092)aAg>aCg p.K1364T ZNF407_ENST00000309902.6_Missense_Mutation_p.K1364T|ZNF407_ENST00000582337.1_Missense_Mutation_p.K1364T|ZNF407_ENST00000577538.1_Missense_Mutation_p.K1364T NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) ATAAGAATAAAGAACCCTGAA 0.413000 41 45 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30338207 30338207 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr21:30338207G>A ENST00000389194.2 - 11 2286 c.2281C>T c.(2281-2283)Ctt>Ttt p.L761F LTN1_ENST00000389195.2_Missense_Mutation_p.L761F|LTN1_ENST00000361371.5_Missense_Mutation_p.L715F NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 715 V -> I (in dbSNP:rs34635840). ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 ATCTTAAGAAGAGAATTCCAT 0.303000 6 11 0 0 1 0 0 INSIG2 51141 broad.mit.edu 37 2 118865859 118865859 + Nonsense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:118865859C>G ENST00000245787.4 + 6 845 c.639C>G c.(637-639)taC>taG p.Y213* INSIG2_ENST00000485520.1_3'UTR NM_016133.2 NP_057217.2 Q9Y5U4 INSI2_HUMAN insulin induced gene 2 213 ER-nuclear sterol response pathway SREBP-SCAP-Insig complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 TTTTGCAGTACGAATGTAAAG 0.289000 16 51 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63200395 63200395 + Silent SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:63200395C>A ENST00000449996.3 + 15 1242 c.1170C>A c.(1168-1170)acC>acA p.T390T RGS9_ENST00000443584.3_Silent_p.T390T|RGS9_ENST00000262406.9_Silent_p.T393T NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 393 RGS. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 CCGCACAAACCCACATTTACA 0.532000 10 72 0.000442599 0.00045947 1 1 0 TNIP1 10318 broad.mit.edu 37 5 150444592 150444592 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr5:150444592G>A ENST00000389378.2 - 2 653 c.65C>T c.(64-66)tCc>tTc p.S22F TNIP1_ENST00000522226.1_Missense_Mutation_p.S22F|TNIP1_ENST00000521591.1_Missense_Mutation_p.S22F|TNIP1_ENST00000524280.1_Missense_Mutation_p.S22F|TNIP1_ENST00000315050.7_Missense_Mutation_p.S22F|TNIP1_ENST00000518977.1_Missense_Mutation_p.S22F|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000523200.1_Missense_Mutation_p.S22F|TNIP1_ENST00000523338.1_Missense_Mutation_p.S22F NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4 NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 22 defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAAAGCTGCGGATGCCTCTCC 0.597000 6 22 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7811424 7811424 + Missense_Mutation SNP A A T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:7811424A>T ENST00000303635.7 + 20 5062 c.4855A>T c.(4855-4857)Acg>Tcg p.T1619S CAMTA1_ENST00000439411.2_Missense_Mutation_p.T1605S|CAMTA1_ENST00000476864.1_Missense_Mutation_p.T183S NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1619 IQ 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGCTCGCCGGACGGCTGTGAT 0.483000 T WWTR1 epitheliod hemangioendothelioma 23 90 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2436148 2436148 + Silent SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:2436148C>A ENST00000419816.2 + 22 4021 c.3747C>A c.(3745-3747)ccC>ccA p.P1249P PLCH2_ENST00000378486.3_Silent_p.P1249P|PLCH2_ENST00000378488.3_Silent_p.P1213P|PLCH2_ENST00000449969.1_3'UTR O75038 PLCH2_HUMAN phospholipase C, eta 2 1249 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) AGGACTGCCCCGTGGCTGCCA 0.682000 4 39 0.150653 0.151636 1 1 0 TADA2A 6871 broad.mit.edu 37 17 35834661 35834661 + Splice_Site SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:35834661G>A ENST00000394395.2 + 15 1246 c.1073G>A c.(1072-1074)gGt>gAt p.G358D TADA2A_ENST00000225396.6_Splice_Site_p.G358D NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 358 SWIRM. histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 CTGTCTATAGGTAGACGGAGT 0.453000 10 4 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131130913 131130913 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:131130913C>T ENST00000357668.1 - 18 1643 c.1616G>A c.(1615-1617)cGa>cAa p.R539Q ASAP1_ENST00000518721.1_Missense_Mutation_p.R539Q Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 539 Arf-GAP. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 ATATTCTTTTCGTACAGTCCT 0.313000 30 23 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123780576 123780576 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chrX:123780576C>T ENST00000422452.2 - 9 1727 c.1664G>A c.(1663-1665)gGa>gAa p.G555E TENM1_ENST00000371130.3_Missense_Mutation_p.G555E NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ACAGTCAGGTCCAAGGAATCC 0.368000 15 32 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56492346 56492346 + Silent SNP T T C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:56492346T>C ENST00000267101.3 + 22 3119 c.2679T>C c.(2677-2679)gaT>gaC p.D893D ERBB3_ENST00000415288.2_Silent_p.D834D|ERBB3_ENST00000450146.2_Silent_p.D250D|ERBB3_ENST00000549832.1_5'UTR|ERBB3_ENST00000553131.1_Silent_p.D134D NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 893 Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) ACCAGAGTGATGTCTGGAGCT 0.453000 25 54 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67683409 67683409 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67683409C>T ENST00000334583.6 + 20 2134 c.1806C>T c.(1804-1806)ctC>ctT p.L602L RLTPR_ENST00000545661.1_Silent_p.L566L NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 602 Tropomodulin-like. breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GCGTCCTACTCCGGGCCCTAG 0.632000 39 29 0 0 1 0 0 LRIG3 121227 broad.mit.edu 37 12 59271356 59271356 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:59271356G>C ENST00000320743.3 - 15 2648 c.2362C>G c.(2362-2364)Cca>Gca p.P788A LRIG3_ENST00000379141.4_Missense_Mutation_p.P728A NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 788 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TCGCAGGTTGGAGTGGGGATC 0.552000 T ROS1 NSCLC 46 24 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6605263 6605263 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:6605263G>A ENST00000321612.6 - 6 879 c.729C>T c.(727-729)ctC>ctT p.L243L NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 243 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TCAGCTCAGTGAGGACTCCAG 0.423000 19 6 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20482506 20482506 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:20482506G>A ENST00000573854.1 + 5 822 c.708G>A c.(706-708)tcG>tcA p.S236S ACSM2A_ENST00000536134.1_Intron|ACSM2A_ENST00000219054.6_Silent_p.S236S|ACSM2A_ENST00000575690.1_Silent_p.S236S|ACSM2A_ENST00000417235.2_Silent_p.S157S|ACSM2A_ENST00000396104.2_Silent_p.S236S|ACSM2A_ENST00000575558.1_3'UTR NM_001010845.2 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 236 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 ATTCCTACTCGAGCCTGGGCC 0.502000 16 37 0 0 1 0 0 SLC39A7 7922 broad.mit.edu 37 6 33171324 33171324 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr6:33171324C>T ENST00000374677.3 + 7 1517 c.1144C>T c.(1144-1146)Cgt>Tgt p.R382C SLC39A7_ENST00000374675.3_Missense_Mutation_p.R382C|SLC39A7_ENST00000463972.1_3'UTR NM_006979.2 NP_008910.2 Q92504 S39A7_HUMAN solute carrier family 39 (zinc transporter), member 7 382 endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity p.R382C(2) NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 TCAGGCGATGCGTCTGCAACT 0.527000 3 29 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103324468 103324468 + Silent SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:103324468G>C ENST00000520539.1 - 18 2763 c.2157C>G c.(2155-2157)gtC>gtG p.V719V UBR5_ENST00000220959.4_Silent_p.V719V|UBR5_ENST00000521922.1_Silent_p.V713V NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 719 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CACCAGTTTTGACAACCTGCA 0.368000 18 20 0 0 1 0 0 CALU 813 broad.mit.edu 37 7 128388726 128388726 + Missense_Mutation SNP A A C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:128388726A>C ENST00000535623.1 + 3 1056 c.113A>C c.(112-114)cAt>cCt p.H38P CALU_ENST00000249364.4_Missense_Mutation_p.H30P|CALU_ENST00000538546.1_Intron|CALU_ENST00000449187.2_Missense_Mutation_p.H30P|CALU_ENST00000542996.2_Missense_Mutation_p.H38P|CALU_ENST00000479257.1_Missense_Mutation_p.H38P|CALU_ENST00000535011.2_Missense_Mutation_p.H30P NM_001199671.1 NP_001186600.1 O43852 CALU_HUMAN calumenin 30 platelet activation|platelet degranulation extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen calcium ion binding|protein binding kidney(2)|large_intestine(3)|lung(5) 10 CGTGTACATCATGAGCCTCAG 0.463000 26 67 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60059951 60059951 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:60059951G>A ENST00000397786.2 - 16 3489 c.3413C>T c.(3412-3414)tCa>tTa p.S1138L NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1138 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AAATAATCCTGAATTGTTTCC 0.423000 38 225 0 0 1 0 0 TULP3 7289 broad.mit.edu 37 12 3046852 3046852 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:3046852G>C ENST00000448120.2 + 9 1031 c.980G>C c.(979-981)gGa>gCa p.G327A TULP3_ENST00000397132.2_Missense_Mutation_p.G327A NM_003324.4 NP_003315.2 O75386 TULP3_HUMAN tubby like protein 3 327 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) ATCATTCCTGGAATGACACTG 0.363000 96 4 0 0 1 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516444 138516444 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:138516444G>C ENST00000371763.1 - 5 583 c.330C>G c.(328-330)atC>atG p.I110M NM_182974.2 NP_892019.2 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 110 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) TGATGTAGAAGATCACTCGGT 0.512000 39 5 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99772354 99772354 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:99772354G>A ENST00000370185.3 + 7 2577 c.2080G>A c.(2080-2082)Gag>Aag p.E694K LPPR4_ENST00000457765.1_Missense_Mutation_p.E636K|LPPR4_ENST00000370184.1_Missense_Mutation_p.E536K NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 694 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TGATAGCAATGAGCATCACCA 0.512000 9 19 0 0 1 0 0 PPID 5481 broad.mit.edu 37 4 159642551 159642551 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr4:159642551C>G ENST00000307720.3 - 2 277 c.170G>C c.(169-171)gGc>gCc p.G57A NM_005038.2 NP_005029.1 Q08752 PPID_HUMAN peptidylprolyl isomerase D 57 PPIase cyclophilin-type. protein folding cytoplasm|intermediate filament cytoskeleton cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0159) GTGTCCAATGCCTTTTTCTCC 0.368000 7 8 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25326441 25326441 + RNA SNP T T G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:25326441T>G ENST00000546682.1 + 0 71 SNHG14_ENST00000549804.2_RNA|SNORD116-15_ENST00000384445.1_RNA NR_003361.1 TGTGGATCGATGATGACTTCC 0.458000 38 208 0 0 1 0 0 AZIN1 51582 broad.mit.edu 37 8 103846431 103846431 + Missense_Mutation SNP A A T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:103846431A>T ENST00000337198.5 - 8 1890 c.727T>A c.(727-729)Ttt>Att p.F243I AZIN1_ENST00000347770.4_Missense_Mutation_p.F243I NM_148174.2 NP_680479.1 O14977 AZIN1_HUMAN antizyme inhibitor 1 243 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol catalytic activity|protein binding p.F243fs*6(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1) 9 Lung NSC(17;0.000143)|all_lung(17;0.000294) OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414) TCCAATTGAAATTCAGTTCCC 0.333000 16 39 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128489247 128489247 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:128489247G>T ENST00000325888.8 + 29 5201 c.4940G>T c.(4939-4941)gGc>gTc p.G1647V FLNC_ENST00000346177.6_Missense_Mutation_p.G1647V NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1647 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TCCATTGGAGGCCATGGCCTG 0.662000 10 21 0.000442599 0.00045947 1 1 0 MTMR4 9110 broad.mit.edu 37 17 56584505 56584505 + Missense_Mutation SNP C C T rs61739434 TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:56584505C>T ENST00000323456.5 - 9 965 c.841G>A c.(841-843)Gag>Aag p.E281K MTMR4_ENST00000579925.1_Missense_Mutation_p.E281K NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 281 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCACACGCCTCGCTGGTATCA 0.602000 16 38 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42168834 42168834 + Silent SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr20:42168834C>G ENST00000444063.1 + 17 2079 c.1947C>G c.(1945-1947)gcC>gcG p.A649A L3MBTL1_ENST00000373134.1_Silent_p.A654A|L3MBTL1_ENST00000418998.1_Silent_p.A717A|L3MBTL1_ENST00000373135.3_Silent_p.A649A|L3MBTL1_ENST00000427442.2_Silent_p.A717A Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 649 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 TCATGTCAGCCCTGTCGGCCC 0.617000 15 28 0 0 1 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32974534 32974534 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr6:32974534G>C ENST00000450833.2 - 4 879 c.608C>G c.(607-609)gCc>gGc p.A203G HLA-DOA_ENST00000229829.5_3'UTR P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 0 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 CACTTAAAGGGCACTGAGCAC 0.502000 5 5 0 0 1 0 0 FAM83E 54854 broad.mit.edu 37 19 49107093 49107093 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:49107093G>C ENST00000263266.3 - 4 1023 c.834C>G c.(832-834)agC>agG p.S278R NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 278 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GGAACTCAAGGCTGAAGGCGT 0.682000 12 39 0 0 1 0 0 TRAF3 7187 broad.mit.edu 37 14 103371850 103371850 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr14:103371850G>A ENST00000560371.1 + 11 1653 c.1436G>A c.(1435-1437)cGt>cAt p.R479H TRAF3_ENST00000392745.2_Missense_Mutation_p.R479H|TRAF3_ENST00000351691.5_Missense_Mutation_p.R454H|TRAF3_ENST00000539721.1_Missense_Mutation_p.R396H|TRAF3_ENST00000347662.4_Missense_Mutation_p.R454H NM_003300.3|NM_145725.2 NP_003291.2|NP_663777.1 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 479 MATH. apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.R479fs*12(2) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) GTCATCATGCGTGGAGAATAT 0.512000 21 9 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92258054 92258054 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr11:92258054C>G ENST00000298047.6 + 2 3564 c.3547C>G c.(3547-3549)Ctg>Gtg p.L1183V FAT3_ENST00000409404.2_Missense_Mutation_p.L1183V|FAT3_ENST00000525166.1_Missense_Mutation_p.L1033V|FAT3_ENST00000541502.1_Missense_Mutation_p.L1183V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1183 Cadherin 11. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAATGAAAAACTGACATACAG 0.368000 TCGA Ovarian(4;0.039) 18 22 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204944532 204944532 + Silent SNP C C G rs143870626 TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:204944532C>G ENST00000367172.4 + 15 2020 c.1692C>G c.(1690-1692)ctC>ctG p.L564L NFASC_ENST00000401399.1_Silent_p.L564L|NFASC_ENST00000338586.6_Silent_p.L564L|NFASC_ENST00000539706.1_Silent_p.L575L|NFASC_ENST00000339876.6_Silent_p.L564L|NFASC_ENST00000404907.1_Silent_p.L575L|NFASC_ENST00000367170.4_Silent_p.L564L|NFASC_ENST00000404076.1_Silent_p.L558L|NFASC_ENST00000513543.1_Silent_p.L575L|NFASC_ENST00000367171.4_Silent_p.L564L|NFASC_ENST00000403080.1_Silent_p.L564L|NFASC_ENST00000338515.6_Silent_p.L564L|NFASC_ENST00000367169.4_Silent_p.L564L|NFASC_ENST00000360049.4_Silent_p.L575L O94856 NFASC_HUMAN neurofascin 564 Ig-like C2-type 6. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACGAGCCGCTCTATATTGGAA 0.552000 OREG0014142 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 8 0 0 1 0 0 MAOA 4128 broad.mit.edu 37 X 43552667 43552667 + Translation_Start_Site SNP T T A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chrX:43552667T>A ENST00000542639.1 + 0 448 MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000338702.3_Missense_Mutation_p.Y100N NM_001270458.1 NP_001257387.1 P21397 AOFA_HUMAN monoamine oxidase A behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) TCTCGTTCAATATGTCAAGGT 0.393000 25 44 0 0 1 0 0 NDOR1 27158 broad.mit.edu 37 9 140108690 140108690 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:140108690G>C ENST00000371521.4 + 6 630 c.547G>C c.(547-549)Gag>Cag p.E183Q NDOR1_ENST00000344894.5_Missense_Mutation_p.E183Q|NDOR1_ENST00000458322.2_Missense_Mutation_p.E183Q|NDOR1_ENST00000427047.2_Missense_Mutation_p.E149Q NM_001144026.1 NP_001137498.1 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 183 cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GTTCCTCCAAGAGGCACCCAG 0.677000 20 15 0 0 1 0 0 PARD6A 50855 broad.mit.edu 37 16 67695000 67695000 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67695000G>C ENST00000458121.2 + 1 150 c.59G>C c.(58-60)aGc>aCc p.S20T PARD6A_ENST00000219255.3_Missense_Mutation_p.S20T|PARD6A_ENST00000602551.1_Missense_Mutation_p.S20T NM_001037281.1|NM_016948.2 NP_001032358.1|NP_058644.1 Q9NPB6 PAR6A_HUMAN par-6 family cell polarity regulator alpha 20 Interaction with PRKCI and PRKCZ.|OPR. cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GAGGTGAAGAGCAAAGTAAGG 0.706000 24 7 0 0 1 0 0 SECISBP2 79048 broad.mit.edu 37 9 91963078 91963078 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:91963078G>C ENST00000375807.3 + 12 1758 c.1687G>C c.(1687-1689)Gat>Cat p.D563H SECISBP2_ENST00000534113.2_Missense_Mutation_p.D495H|SECISBP2_ENST00000339901.4_Missense_Mutation_p.D490H NM_001282688.1|NM_001282690.1|NM_024077.3 NP_001269617.1|NP_001269619.1|NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 563 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 TGACACACAAGATGGAGAGAG 0.413000 15 86 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792887 143792887 + Silent SNP T T C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:143792887T>C ENST00000408949.2 + 1 747 c.687T>C c.(685-687)tcT>tcC p.S229S NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) GGATCCAGTCTGGGGAGGGCC 0.587000 57 186 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142177933 142177933 + Missense_Mutation SNP T T G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:142177933T>G ENST00000350721.4 - 44 7491 c.7370A>C c.(7369-7371)tAc>tCc p.Y2457S ATR_ENST00000383101.3_Missense_Mutation_p.Y2393S NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2457 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GGAACGGCAGTAAGCTGATCT 0.353000 Other conserved DNA damage response genes 11 24 0 0 1 0 0 POLR2B 5431 broad.mit.edu 37 4 57876570 57876570 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr4:57876570G>A ENST00000381227.1 + 12 1861 c.1448G>A c.(1447-1449)cGt>cAt p.R483H POLR2B_ENST00000441246.2_Missense_Mutation_p.R476H|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Missense_Mutation_p.R408H|POLR2B_ENST00000314595.5_Missense_Mutation_p.R483H P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 483 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding p.R483L(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) TCTCACCTGCGTCGTTTAAAT 0.433000 25 102 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990249 39990249 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr20:39990249G>A ENST00000332312.3 - 4 2152 c.1960C>T c.(1960-1962)Ctg>Ttg p.L654L NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 654 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) TCCCCACGCAGGTTCAGGACC 0.642000 9 22 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39884917 39884917 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:39884917G>T ENST00000260356.5 + 17 2846 c.2681G>T c.(2680-2682)tGt>tTt p.C894F NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 894 activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GGAGATGCCTGTGACCACGAT 0.522000 9 26 0.0692343 0.0701433 1 1 0 SUGP2 10147 broad.mit.edu 37 19 19136197 19136197 + Silent SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:19136197A>G ENST00000601879.1 - 3 1257 c.960T>C c.(958-960)gaT>gaC p.D320D SUGP2_ENST00000600377.1_Silent_p.D334D|SUGP2_ENST00000337018.6_Silent_p.D320D|SUGP2_ENST00000452918.2_Silent_p.D320D|SUGP2_ENST00000456085.2_Silent_p.D89D Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 320 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CATCAGACTTATCTATGATGT 0.403000 27 96 0 0 1 0 0 COLQ 8292 broad.mit.edu 37 3 15512083 15512083 + Missense_Mutation SNP T T A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:15512083T>A ENST00000383785.2 - 11 802 c.677A>T c.(676-678)cAc>cTc p.H226L COLQ_ENST00000383786.5_Missense_Mutation_p.H192L|COLQ_ENST00000435459.2_Missense_Mutation_p.H216L|COLQ_ENST00000383787.2_Missense_Mutation_p.H217L|COLQ_ENST00000383788.5_Missense_Mutation_p.H226L|COLQ_ENST00000603808.1_Missense_Mutation_p.H226L|COLQ_ENST00000383781.4_Missense_Mutation_p.H216L Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 226 Collagen-like 1. acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 GGGTCCTCGGTGTCCTGCTAT 0.547000 13 61 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67683403 67683403 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67683403C>T ENST00000334583.6 + 20 2128 c.1800C>T c.(1798-1800)gtC>gtT p.V600V RLTPR_ENST00000545661.1_Silent_p.V564V NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 600 Tropomodulin-like. breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GTGCCAGCGTCCTACTCCGGG 0.627000 39 30 0 0 1 0 0 KIF9 64147 broad.mit.edu 37 3 47286372 47286372 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:47286372C>T ENST00000335044.2 - 15 1780 c.1423G>A c.(1423-1425)Gaa>Aaa p.E475K KIF9_ENST00000452770.2_Missense_Mutation_p.E475K|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000265529.3_Missense_Mutation_p.E475K|KIF9_ENST00000444589.2_Missense_Mutation_p.E475K|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Missense_Mutation_p.E382K NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 475 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TTTTGTCCTTCAGGCTCACCC 0.527000 34 4 0 0 1 0 0 MIRLET7E 406887 broad.mit.edu 37 19 52196139 52196139 + RNA SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:52196139G>T ENST00000602324.1 - 0 570 NR_029482.1|NR_029693.1 ACGGGACGGGGCCCGGCGGGG 0.667000 13 16 1.49906e-05 1.58101e-05 1 1 0 ACD 65057 broad.mit.edu 37 16 67693694 67693694 + Nonsense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67693694C>A ENST00000219251.8 - 3 827 c.496G>T c.(496-498)Gag>Tag p.E166* ACD_ENST00000393919.4_Nonsense_Mutation_p.E169* NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 169 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) AACTCCTTCTCCTCCCTGCAA 0.692000 48 21 4.01344e-20 4.68066e-20 1 1 0 PTP4A2 8073 broad.mit.edu 37 1 32381534 32381534 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:32381534C>G ENST00000344035.6 - 3 1144 c.151G>C c.(151-153)Gat>Cat p.D51H PTP4A2_ENST00000356536.3_Missense_Mutation_p.D51H|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000602725.1_Missense_Mutation_p.D51H|PTP4A2_ENST00000457805.2_Intron|PTP4A2_ENST00000470404.1_Missense_Mutation_p.D51H NM_080391.3 NP_536316.1 Q12974 TP4A2_HUMAN protein tyrosine phosphatase type IVA, member 2 51 early endosome|plasma membrane prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) GGAGCTTTATCATATGTAGCA 0.284000 13 21 0 0 1 0 0 RIMKLA 284716 broad.mit.edu 37 1 42875784 42875784 + Missense_Mutation SNP T T C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:42875784T>C ENST00000431473.3 + 4 740 c.611T>C c.(610-612)gTg>gCg p.V204A NM_173642.3 NP_775913.2 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family member A 204 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 CGGGTGGTGGTGGTAGGGGGC 0.542000 26 41 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55571514 55571514 + Missense_Mutation SNP T T A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:55571514T>A ENST00000436346.1 - 11 2019 c.1178A>T c.(1177-1179)gAt>gTt p.D393V CCDC88A_ENST00000413716.2_Missense_Mutation_p.D393V|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D393V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D393V NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 393 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 CATTTCCATATCATGAAGTTT 0.368000 24 73 0 0 1 0 0 TPRN 286262 broad.mit.edu 37 9 140093911 140093911 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:140093911G>A ENST00000409012.4 - 1 1339 c.1253C>T c.(1252-1254)tCa>tTa p.S418L TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Missense_Mutation_p.S357L NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 418 sensory perception of sound stereocilium breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 GGGGGGCGGTGAGGACGGCCT 0.672000 10 1 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807460 20807460 + Missense_Mutation SNP T T C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:20807460T>C ENST00000601440.1 - 4 1369 c.1223A>G c.(1222-1224)tAc>tGc p.Y408C CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y408C(1) breast(1)|endometrium(1)|lung(3)|skin(1) 6 GTTAGAGGAGTACTTAAAAGC 0.408000 4 172 0 0 1 0 0 HIST2H2BE 8349 broad.mit.edu 37 1 149858068 149858068 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:149858068G>A ENST00000369155.2 - 1 164 c.123C>T c.(121-123)taC>taT p.Y41Y NM_003528.2 NP_003519.1 Q16778 H2B2E_HUMAN histone cluster 2, H2be 41 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CCTTGTACACGTAGATGGAGT 0.572000 6 306 0 0 1 0 0 TRPC1 7220 broad.mit.edu 37 3 142525039 142525039 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:142525039C>T ENST00000273482.6 + 12 2633 c.2242C>T c.(2242-2244)Cgg>Tgg p.R748W TRPC1_ENST00000476941.1_Missense_Mutation_p.R782W NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 782 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 ACTTGGCTTTCGGACTTCTAA 0.338000 11 41 0 0 1 0 0 EFCAB1 79645 broad.mit.edu 37 8 49643941 49643941 + Silent SNP T T C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:49643941T>C ENST00000262103.3 - 2 260 c.180A>G c.(178-180)acA>acG p.T60T EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000433756.1_Intron NM_024593.3 NP_078869.1 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 60 calcium ion binding endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2) 14 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) TCATTCCAAATGTCACATGCA 0.408000 21 40 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577556 7577556 + Missense_Mutation SNP C C T rs121912655 TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:7577556C>T ENST00000420246.2 - 7 857 c.725G>A c.(724-726)tGc>tAc p.C242Y TP53_ENST00000455263.2_Missense_Mutation_p.C242Y|TP53_ENST00000413465.2_Missense_Mutation_p.C242Y|TP53_ENST00000269305.4_Missense_Mutation_p.C242Y|TP53_ENST00000445888.2_Missense_Mutation_p.C242Y|TP53_ENST00000359597.4_Missense_Mutation_p.C242Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 242 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCGCCCATGCAGGAACTGTT 0.577000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 4 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501816 90501816 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:90501816C>G ENST00000325643.5 + 4 2480 c.2414C>G c.(2413-2415)cCt>cGt p.P805R NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CACAGGAAACCTGGGAAGCTG 0.577000 64 24 0 0 1 0 0 ZNF394 84124 broad.mit.edu 37 7 99097460 99097460 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:99097460C>T ENST00000337673.6 - 1 460 c.257G>A c.(256-258)cGa>cAa p.R86Q ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.R86Q|ZNF789_ENST00000493485.1_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 86 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ACAGAGTTCTCGGAGCCGGCT 0.637000 10 48 0 0 1 0 0 VPS54 51542 broad.mit.edu 37 2 64174580 64174580 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:64174580C>T ENST00000409558.4 - 9 1300 c.1146G>A c.(1144-1146)aaG>aaA p.K382K VPS54_ENST00000272322.4_Silent_p.K394K|VPS54_ENST00000354504.3_Intron NM_001005739.1|NM_016516.2 NP_001005739.1|NP_057600.2 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 AAAAATTAAGCTTTCTTTGTT 0.239000 21 64 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43886490 43886490 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:43886490G>T ENST00000562955.1 + 10 1332 c.1332G>T c.(1330-1332)atG>atT p.M444I NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 444 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 ATGTGGCTATGGCACCCTGGC 0.557000 27 44 4.87955e-14 5.48358e-14 1 1 0 CD3G 917 broad.mit.edu 37 11 118221394 118221394 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr11:118221394G>A ENST00000532917.1 + 4 503 c.435G>A c.(433-435)tcG>tcA p.S145S CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Intron NM_000073.2 NP_000064.1 P09693 CD3G_HUMAN CD3g molecule, gamma (CD3-TCR complex) 145 establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity breast(2)|kidney(1)|large_intestine(2)|skin(1) 6 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) TTCGCCAGTCGAGAGGTAAAA 0.488000 66 9 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238280765 238280765 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:238280765C>G ENST00000295550.4 - 9 4347 c.3895G>C c.(3895-3897)Gtg>Ctg p.V1299L COL6A3_ENST00000392004.3_Missense_Mutation_p.V1093L|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1093L|COL6A3_ENST00000392003.2_Missense_Mutation_p.V892L|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1099L|COL6A3_ENST00000472056.1_Missense_Mutation_p.V692L|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1098L|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1093L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1299 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGCCGCTGCACCGCGTTCTGC 0.612000 7 19 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112071409 112071409 + Missense_Mutation SNP A A C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr11:112071409A>C ENST00000357685.5 + 7 1074 c.939A>C c.(937-939)aaA>aaC p.K313N BCO2_ENST00000526088.1_Missense_Mutation_p.K279N|BCO2_ENST00000393032.2_Missense_Mutation_p.K279N|BCO2_ENST00000532593.1_Missense_Mutation_p.K208N|BCO2_ENST00000531169.1_Missense_Mutation_p.K279N|BCO2_ENST00000438022.1_Missense_Mutation_p.K279N|BCO2_ENST00000361053.4_Missense_Mutation_p.K240N Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 313 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 CCACTTCTAAAATTCGGGGAA 0.403000 50 74 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81714151 81714151 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:81714151C>T ENST00000356860.3 - 7 930 c.592G>A c.(592-594)Gag>Aag p.E198K CACNA2D1_ENST00000423588.1_Missense_Mutation_p.E198K|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E198K NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 198 voltage-gated calcium channel complex metal ion binding p.E198K(1) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GGGTCTTCCTCGCGATTCTTT 0.383000 23 6 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659642 50659642 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr22:50659642C>T ENST00000439308.2 - 16 3638 c.3146G>A c.(3145-3147)cGg>cAg p.R1049Q TUBGCP6_ENST00000248846.5_Missense_Mutation_p.R1049Q|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1049 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GGTGTTCCACCGTGGCCGGGT 0.647000 34 8 0 0 1 0 0 FAM124A 220108 broad.mit.edu 37 13 51826227 51826227 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr13:51826227C>G ENST00000322475.8 + 3 859 c.724C>G c.(724-726)Cga>Gga p.R242G FAM124A_ENST00000280057.6_Missense_Mutation_p.R278G NM_001242312.1 NP_001229241.1 Q86V42 F124A_HUMAN family with sequence similarity 124A 242 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) GCTGGAGTTCCGAGTGAGGGA 0.602000 14 3 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52883387 52883387 + Silent SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr4:52883387A>G ENST00000343457.3 - 1 399 c.393T>C c.(391-393)ccT>ccC p.P131P NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 131 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 ATGAGGACTTAGGACTGAGTA 0.428000 30 67 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7094102 7094102 + Silent SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:7094102G>T ENST00000399510.2 - 22 3081 c.2229C>A c.(2227-2229)atC>atA p.I743I DLG4_ENST00000302955.6_Silent_p.I697I|DLG4_ENST00000399506.2_Silent_p.I700I NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 700 axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 CCTTGTGGTAGATCTCCTCAA 0.612000 18 32 1.45105e-14 1.63863e-14 1 1 0 APOA2 336 broad.mit.edu 37 1 161192829 161192829 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:161192829G>A ENST00000464492.1 - 3 201 c.163C>T c.(163-165)Cgg>Tgg p.R55W APOA2_ENST00000470459.2_Missense_Mutation_p.R22W|APOA2_ENST00000367990.3_Missense_Mutation_p.R22W|APOA2_ENST00000468465.1_Intron|APOA2_ENST00000463812.1_5'UTR|APOA2_ENST00000491350.1_Intron P02652 APOA2_HUMAN apolipoprotein A-II cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(2)|skin(2) 6 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCTGTCTCCGAACCAAAGCT 0.547000 12 129 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84581895 84581895 + Silent SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:84581895G>T ENST00000286744.5 + 16 1976 c.1752G>T c.(1750-1752)gtG>gtT p.V584V ADAMTSL3_ENST00000567476.1_Silent_p.V584V NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 584 TSP type-1 4. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.V584V(1) NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GGCCGGGTGTGCAGGTCCGTG 0.577000 5 14 0.010729 0.0110145 1 1 0 CYP2S1 29785 broad.mit.edu 37 19 41711905 41711905 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:41711905C>T ENST00000310054.4 + 8 1423 c.1207C>T c.(1207-1209)Ccc>Tcc p.P403S CYP2S1_ENST00000542619.1_Missense_Mutation_p.P128S NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 403 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 CCTGCATGACCCCAACATCTT 0.537000 10 44 0 0 1 0 0 POU2F2 5452 broad.mit.edu 37 19 42600336 42600336 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:42600336G>A ENST00000389341.5 - 8 579 c.513C>T c.(511-513)tgC>tgT p.C171C POU2F2_ENST00000529952.1_Silent_p.C187C|POU2F2_ENST00000342301.4_Silent_p.C187C|POU2F2_ENST00000529067.1_Silent_p.C171C|POU2F2_ENST00000533720.1_Silent_p.C171C|POU2F2_ENST00000560558.1_Silent_p.C132C|POU2F2_ENST00000526816.2_Silent_p.C187C|POU2F2_ENST00000560398.1_Silent_p.C193C NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 187 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) GTGGCTCCAAGCATTTGGGGG 0.687000 4 11 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28387389 28387389 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:28387389C>G ENST00000261609.7 - 76 11803 c.11695G>C c.(11695-11697)Gat>Cat p.D3899H NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3899 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AATACCTCATCAAGAAACAGA 0.453000 15 46 0 0 1 0 0 MKL1 57591 broad.mit.edu 37 22 40807500 40807500 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr22:40807500C>T ENST00000355630.3 - 15 3280 c.2690G>A c.(2689-2691)gGt>gAt p.G897D MKL1_ENST00000402042.1_Missense_Mutation_p.G847D|MKL1_ENST00000407029.1_Missense_Mutation_p.G897D|MKL1_ENST00000396617.3_3'UTR NM_020831.3 NP_065882.1 Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 897 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 CAGCACGGGACCACCTGACGA 0.617000 T RBM15 acute megakaryocytic leukemia 11 13 0 0 1 0 0 BICC1 80114 broad.mit.edu 37 10 60544833 60544833 + Missense_Mutation SNP A A T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:60544833A>T ENST00000373886.3 + 4 384 c.380A>T c.(379-381)gAc>gTc p.D127V NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 127 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 TCTGTCTTAGACACAAAAGTA 0.363000 28 43 0 0 1 0 0 TBL1X 6907 broad.mit.edu 37 X 9656165 9656165 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chrX:9656165C>G ENST00000217964.7 + 7 1106 c.466C>G c.(466-468)Cag>Gag p.Q156E TBL1X_ENST00000536365.1_Missense_Mutation_p.Q105E|TBL1X_ENST00000407597.2_Missense_Mutation_p.Q156E|TBL1X_ENST00000424279.1_Missense_Mutation_p.Q105E|TBL1X_ENST00000380961.1_Missense_Mutation_p.Q105E NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 156 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) GAAGCTCGCTCAGCAGCAAGC 0.662000 8 1 0 0 1 0 0 PARD6A 50855 broad.mit.edu 37 16 67696371 67696371 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67696371G>A ENST00000458121.2 + 3 950 c.859G>A c.(859-861)Gag>Aag p.E287K PARD6A_ENST00000219255.3_Missense_Mutation_p.E288K|PARD6A_ENST00000602551.1_Missense_Mutation_p.E258K NM_001037281.1|NM_016948.2 NP_001032358.1|NP_058644.1 Q9NPB6 PAR6A_HUMAN par-6 family cell polarity regulator alpha 288 cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCTGGTCATTGAGAACCGCCA 0.652000 28 15 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51520110 51520110 + Missense_Mutation SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:51520110A>G ENST00000396402.1 - 4 470 c.317T>C c.(316-318)aTa>aCa p.I106T RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.I106T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.I106T|CYP19A1_ENST00000405913.3_Missense_Mutation_p.I106T|CYP19A1_ENST00000559878.1_Missense_Mutation_p.I106T|CYP19A1_ENST00000557858.1_Missense_Mutation_p.I106T NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 106 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) GTGCTTCATTATGTGGAACAT 0.433000 38 40 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61834292 61834292 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:61834292G>A ENST00000280772.2 - 37 6538 c.6347C>T c.(6346-6348)tCt>tTt p.S2116F ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GTCGTGTTGAGAAAAGTCATC 0.438000 25 38 0 0 1 0 0 TTLL9 164395 broad.mit.edu 37 20 30486305 30486305 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr20:30486305C>G ENST00000375938.4 + 4 396 c.143C>G c.(142-144)aCc>aGc p.T48S TTLL9_ENST00000535842.1_Missense_Mutation_p.T48S|TTLL9_ENST00000310998.4_5'UTR|TTLL9_ENST00000375934.4_Missense_Mutation_p.T30S|TTLL9_ENST00000375921.2_5'UTR|TTLL9_ENST00000375922.4_5'UTR Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 48 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CGGTTCAAGACCACCCTCATG 0.527000 7 27 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150933493 150933493 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:150933493G>A ENST00000271640.5 + 16 3145 c.2955G>A c.(2953-2955)ttG>ttA p.L985L SETDB1_ENST00000368969.4_Silent_p.L985L NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 985 SET. 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) CCTCATGGTTGAGCTGCAATA 0.537000 35 142 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73680753 73680753 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:73680753G>C ENST00000264448.6 + 8 7207 c.7096G>C c.(7096-7098)Gag>Cag p.E2366Q ALMS1_ENST00000377715.1_Missense_Mutation_p.E2366Q|ALMS1_ENST00000409009.1_Missense_Mutation_p.E2324Q NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2366 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ACAGGAAGCAGAGAGCAAAGT 0.423000 25 41 0 0 1 0 0 MITF 4286 broad.mit.edu 37 3 69998243 69998243 + Missense_Mutation SNP A A T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:69998243A>T ENST00000352241.4 + 6 967 c.804A>T c.(802-804)caA>caT p.Q268H MITF_ENST00000531774.1_Missense_Mutation_p.Q105H|MITF_ENST00000394355.2_Missense_Mutation_p.Q243H|MITF_ENST00000448226.2_Missense_Mutation_p.Q268H|MITF_ENST00000328528.6_Missense_Mutation_p.Q267H|MITF_ENST00000314589.5_Missense_Mutation_p.Q252H|MITF_ENST00000314557.6_Missense_Mutation_p.Q161H|MITF_ENST00000472437.1_Missense_Mutation_p.Q216H|MITF_ENST00000394351.3_Missense_Mutation_p.Q161H NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 268 Transactivation. melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) ATGGAAACCAAGGTCTGCCCC 0.453000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 44 40 0 0 1 0 0 C5orf15 56951 broad.mit.edu 37 5 133295470 133295470 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr5:133295470C>T ENST00000231512.3 - 2 583 c.381G>A c.(379-381)gaG>gaA p.E127E C5orf15_ENST00000507191.1_5'UTR NM_020199.2 NP_064584.1 Q8NC54 KCT2_HUMAN chromosome 5 open reading frame 15 127 integral to membrane endometrium(2)|large_intestine(1)|lung(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) TGAGAAGATCCTCCTCCTCTA 0.507000 19 45 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41219632 41219632 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:41219632C>T ENST00000309486.4 - 15 5206 c.4179G>A c.(4177-4179)atG>atA p.M1393I BRCA1_ENST00000491747.2_Missense_Mutation_p.M585I|BRCA1_ENST00000468300.1_Missense_Mutation_p.M585I|BRCA1_ENST00000357654.3_Missense_Mutation_p.M1689I|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.M506I|BRCA1_ENST00000493795.1_Missense_Mutation_p.M1642I|BRCA1_ENST00000591534.1_Missense_Mutation_p.M180I|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.M1710I|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.M547I NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1689 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TACCTGTTTTCATAACAACAT 0.398000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 23 0 0 0 1 0 0 PCED1A 64773 broad.mit.edu 37 20 2818910 2818910 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr20:2818910C>T ENST00000360652.2 - 6 1311 c.809G>A c.(808-810)gGc>gAc p.G270D PCED1A_ENST00000356872.3_Missense_Mutation_p.G219D NM_022760.4 NP_073597.2 PC-esterase domain containing 1A CAGCTCCACGCCCCAGGCGTC 0.627000 27 34 0 0 1 0 0 APEX2 27301 broad.mit.edu 37 X 55033379 55033379 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chrX:55033379G>A ENST00000374987.3 + 6 1134 c.1068G>A c.(1066-1068)acG>acA p.T356T NM_014481.2 NP_055296.2 Q9UBZ4 APEX2_HUMAN APEX nuclease (apurinic/apyrimidinic endonuclease) 2 356 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding p.T356T(1) breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1) 21 AGCAGTCGACGCTGCAGCACA 0.567000 Other BER factors 14 18 0 0 1 0 0 FRMD1 79981 broad.mit.edu 37 6 168465622 168465622 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr6:168465622C>T ENST00000283309.6 - 5 641 c.577G>A c.(577-579)Gac>Aac p.D193N FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.D125N|FRMD1_ENST00000432403.1_5'UTR NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 193 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) TCGCCCAGGTCAGCCTGCAGC 0.652000 4 3 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35043079 35043079 + Silent SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:35043079G>T ENST00000312292.5 + 2 500 c.453G>T c.(451-453)ggG>ggT p.G151G C9orf131_ENST00000354479.5_Silent_p.G78G|C9orf131_ENST00000421362.2_Silent_p.G103G NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 151 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) AGGCTATAGGGATACCAGAGC 0.557000 52 45 8.44121e-28 9.9956e-28 1 1 0 TEX14 56155 broad.mit.edu 37 17 56646588 56646588 + Missense_Mutation SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:56646588A>G ENST00000389934.3 - 27 4088 c.3971T>C c.(3970-3972)cTg>cCg p.L1324P TEX14_ENST00000240361.8_Missense_Mutation_p.L1330P|TEX14_ENST00000349033.5_Missense_Mutation_p.L1284P NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 1330 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGGTGGTGGCAGCTCATCAAT 0.408000 11 67 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90052388 90052388 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr5:90052388G>C ENST00000405460.2 + 56 11794 c.11698G>C c.(11698-11700)Gag>Cag p.E3900Q NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3900 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGAAATAGCTGAGATAATGAT 0.423000 11 10 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49225951 49225951 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:49225951G>C ENST00000308025.3 - 15 2053 c.1974C>G c.(1972-1974)atC>atG p.I658M NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 658 Helicase C-terminal. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 CTTGCTCCAAGATTGCCAGCA 0.483000 46 8 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160093053 160093053 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:160093053C>G ENST00000361216.3 + 4 317 c.228C>G c.(226-228)aaC>aaG p.N76K ATP1A2_ENST00000392233.3_Missense_Mutation_p.N76K NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 76 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) ATGGGCCCAACGCCCTCACAC 0.637000 38 213 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18364028 18364028 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr22:18364028C>T ENST00000429452.1 - 17 2635 c.2283G>A c.(2281-2283)gtG>gtA p.V761V MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000585038.1_Silent_p.V761V NM_001136004.1 NP_001129476.1 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1248 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) ACAGGGTGATCACTTTTTTGG 0.537000 58 72 0 0 1 0 0 MTERFD1 51001 broad.mit.edu 37 8 97256296 97256296 + Nonsense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:97256296C>A ENST00000523821.1 - 7 1029 c.910G>T c.(910-912)Gaa>Taa p.E304* MTERFD1_ENST00000287025.3_Nonsense_Mutation_p.E304*|MTERFD1_ENST00000522822.1_Nonsense_Mutation_p.E183*|MTERFD1_ENST00000524341.1_Intron Q96E29 MTER1_HUMAN MTERF domain containing 1 304 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) AAACCAAGTTCAAGACGATAA 0.303000 6 20 0.0215528 0.02198 1 1 0 WWTR1 25937 broad.mit.edu 37 3 149290682 149290682 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:149290682C>G ENST00000465804.1 - 4 793 c.537G>C c.(535-537)caG>caC p.Q179H WWTR1_ENST00000360632.3_Missense_Mutation_p.Q179H|WWTR1_ENST00000467467.1_Missense_Mutation_p.Q179H NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 179 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CCATGGACCTCTGAGGCACTG 0.438000 T CAMTA1 epitheliod hemangioendothelioma 78 33 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73929920 73929920 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:73929920C>G ENST00000476977.1 + 4 2106 c.415C>G c.(415-417)Ctt>Gtt p.L139V GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.L139V|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.L171V|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.L139V Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 139 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GTTTGATGTTCTTTATAGTAA 0.612000 32 2 0 0 1 0 0 IFNA21 3452 broad.mit.edu 37 9 21166381 21166381 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:21166381G>C ENST00000380225.1 - 1 278 c.231C>G c.(229-231)atC>atG p.I77M NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 77 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GGAGGACAGAGATGGCTTGAG 0.488000 78 14 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109807898 109807898 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:109807898G>T ENST00000271332.3 + 13 5753 c.5692G>T c.(5692-5694)Gac>Tac p.D1898Y NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1898 EGF-like 7; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTTTGACCCAGACTGCAACAA 0.602000 4 13 5.9392e-07 6.33606e-07 1 1 0 CCIN 881 broad.mit.edu 37 9 36170285 36170285 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:36170285G>A ENST00000335119.2 + 1 897 c.786G>A c.(784-786)caG>caA p.Q262Q NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 262 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) ACCGCAAGCAGGAGCGGCCAT 0.582000 12 23 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92953091 92953091 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr14:92953091G>C ENST00000532405.1 + 14 1730 c.1504G>C c.(1504-1506)Gac>Cac p.D502H SLC24A4_ENST00000351924.5_Missense_Mutation_p.D466H|SLC24A4_ENST00000393265.2_Missense_Mutation_p.D438H|SLC24A4_ENST00000531433.1_Missense_Mutation_p.D483H|SLC24A4_ENST00000298877.1_Missense_Mutation_p.D485H Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 502 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) AAGTGTTCCAGACTGCATGGC 0.542000 6 2 0 0 1 0 0 SCAI 286205 broad.mit.edu 37 9 127715130 127715130 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:127715130C>T ENST00000336505.6 - 18 1835 c.1777G>A c.(1777-1779)Gat>Aat p.D593N SCAI_ENST00000373549.4_Missense_Mutation_p.D616N NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 TTTCGAACATCCAGAATGGAT 0.368000 32 2 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165947256 165947256 + Missense_Mutation SNP C C T rs3731762 by1000genomes TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:165947256C>T ENST00000360093.3 - 28 5898 c.5407G>A c.(5407-5409)Gat>Aat p.D1803N SCN3A_ENST00000283254.7_Missense_Mutation_p.D1803N|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1754N|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.D286N NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1803 D -> N (in dbSNP:rs3731762). voltage-gated sodium channel complex voltage-gated sodium channel activity p.D1803N(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TGGGTCGCATCGGGATCAAAC 0.458000 32 94 0 0 1 0 0 MITF 4286 broad.mit.edu 37 3 70014299 70014299 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:70014299G>A ENST00000352241.4 + 10 1626 c.1463G>A c.(1462-1464)gGt>gAt p.G488D MITF_ENST00000531774.1_Missense_Mutation_p.G325D|MITF_ENST00000394355.2_Missense_Mutation_p.G463D|MITF_ENST00000448226.2_Missense_Mutation_p.G494D|MITF_ENST00000328528.6_Missense_Mutation_p.G487D|MITF_ENST00000314589.5_Missense_Mutation_p.G472D|MITF_ENST00000314557.6_Missense_Mutation_p.G381D|MITF_ENST00000472437.1_Missense_Mutation_p.G436D|MITF_ENST00000394351.3_Missense_Mutation_p.G387D NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 494 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) TCTCCCGTCGGTGTCACTGAT 0.542000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 34 27 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86087181 86087181 + Silent SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:86087181A>G ENST00000394518.2 + 5 752 c.657A>G c.(655-657)ctA>ctG p.L219L AKAP13_ENST00000361243.2_Silent_p.L219L NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 219 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 ACCAGCTTCTAACCGAGTAAG 0.572000 19 17 0 0 1 0 0 C1QA 712 broad.mit.edu 37 1 22965542 22965542 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:22965542G>C ENST00000374642.3 + 3 584 c.380G>C c.(379-381)gGg>gCg p.G127A C1QA_ENST00000402322.1_Missense_Mutation_p.G127A NM_015991.2 NP_057075.1 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 127 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCCCCAATGGGGGGCAACGTG 0.602000 8 15 0 0 1 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185369897 185369897 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:185369897C>T ENST00000382199.2 - 13 1541 c.1446G>A c.(1444-1446)ccG>ccA p.P482P IGF2BP2_ENST00000346192.3_Silent_p.P439P|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000457616.2_Silent_p.P488P|IGF2BP2_ENST00000421047.2_Silent_p.P425P NM_006548.4 NP_006539.3 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding protein 2 482 KH 3. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) ACTGGGCTTCCGGTGGCCCGG 0.592000 6 27 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67686434 67686434 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67686434C>A ENST00000334583.6 + 28 3205 c.2877C>A c.(2875-2877)ttC>ttA p.F959L RLTPR_ENST00000545661.1_Missense_Mutation_p.F923L NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 959 Pro-rich. breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) TGGTCCCCTTCATTCACAGTA 0.587000 18 12 1.1804e-14 1.33624e-14 1 1 0 PARD6A 50855 broad.mit.edu 37 16 67696119 67696119 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67696119G>A ENST00000458121.2 + 3 698 c.607G>A c.(607-609)Gag>Aag p.E203K PARD6A_ENST00000219255.3_Missense_Mutation_p.E204K|PARD6A_ENST00000602551.1_Missense_Mutation_p.E174K NM_001037281.1|NM_016948.2 NP_001032358.1|NP_058644.1 Q9NPB6 PAR6A_HUMAN par-6 family cell polarity regulator alpha 204 Interaction with PARD3 and CDC42 (By similarity).|PDZ. cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GGGTCTGGCTGAGAGTACAGG 0.592000 39 30 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 5 10 0 0 1 0 0 IFNLR1 163702 broad.mit.edu 37 1 24483750 24483750 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:24483750C>T ENST00000327535.1 - 7 1445 c.1433G>A c.(1432-1434)aGc>aAc p.S478N IFNLR1_ENST00000374421.3_Missense_Mutation_p.S449N|IFNLR1_ENST00000327575.2_3'UTR NM_170743.3|NM_173064.2 NP_734464.1|NP_775087.1 interferon, lambda receptor 1 CTCAGGGCTGCTTTCCCAGCA 0.637000 12 45 0 0 1 0 0 FBXO11 80204 broad.mit.edu 37 2 48035567 48035567 + Splice_Site SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:48035567C>G ENST00000403359.3 - 22 2628 c.e22-1 MSH6_ENST00000234420.5_3'UTR|FBXO11_ENST00000316377.4_Splice_Site|FBXO11_ENST00000402508.1_Splice_Site|FBXO11_ENST00000434523.2_Splice_Site|FBXO11_ENST00000405808.1_Splice_Site NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGTATGACATCTAAAAAGCAA 0.343000 """Mis, F, D""" DLBCL 16 105 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175899129 175899129 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr4:175899129C>T ENST00000359240.3 + 5 3123 c.2453C>T c.(2452-2454)aCg>aTg p.T818M ADAM29_ENST00000445694.1_Missense_Mutation_p.T818M|ADAM29_ENST00000514159.1_Missense_Mutation_p.T818M|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.T818M NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 818 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CCTCCTGTGACGCCCTCCTAG 0.587000 37 19 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64394374 64394374 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr6:64394374C>A ENST00000262043.3 + 4 1091 c.751C>A c.(751-753)Cat>Aat p.H251N PHF3_ENST00000393387.1_Missense_Mutation_p.H251N|PHF3_ENST00000509330.1_Missense_Mutation_p.H251N Q92576 PHF3_HUMAN PHD finger protein 3 251 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TGTGCCATCTCATGAATTAAA 0.358000 28 38 1.5548e-18 1.78628e-18 1 1 0 NDOR1 27158 broad.mit.edu 37 9 140110578 140110578 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:140110578G>A ENST00000371521.4 + 13 1697 c.1614G>A c.(1612-1614)cgG>cgA p.R538R NDOR1_ENST00000344894.5_Silent_p.R529R|NDOR1_ENST00000458322.2_Silent_p.R522R|NDOR1_ENST00000427047.2_Silent_p.R495R NM_001144026.1 NP_001137498.1 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 529 cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) ACCGGCTCCGGGAGCTGGGGT 0.662000 39 18 0 0 1 0 0 IRAK1 3654 broad.mit.edu 37 X 153285224 153285224 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chrX:153285224C>A ENST00000369980.3 - 1 207 c.40G>T c.(40-42)Ggc>Tgc p.G14C IRAK1_ENST00000369974.2_Missense_Mutation_p.G14C|IRAK1_ENST00000429936.2_Missense_Mutation_p.G14C|IRAK1_ENST00000393687.2_Missense_Mutation_p.G14C|IRAK1_ENST00000393682.1_Missense_Mutation_p.G14C NM_001025242.1|NM_001569.3 NP_001020413.1|NP_001560.2 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 14 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGCTgggcgccgggggctgcg 0.771000 4 9 0.184627 0.185428 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144879129 144879129 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:144879129G>C ENST00000369359.4 - 30 4767 c.4729C>G c.(4729-4731)Ctc>Gtc p.L1577V PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L1397V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L1441V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L1577V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L1441V Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1441 NBPF. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTCTGGATGAGACTCTCCAGG 0.557000 T PDGFRB MPD 18 159 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770514 31770514 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:31770514G>T ENST00000240587.4 - 2 512 c.185C>A c.(184-186)tCc>tAc p.S62Y NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 62 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GGCGGCCGGGGAGTTCTGGTA 0.587000 6 16 0.0215528 0.02198 1 1 0 PLS3 5358 broad.mit.edu 37 X 114856614 114856614 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chrX:114856614G>C ENST00000420625.2 + 3 264 c.130G>C c.(130-132)Gct>Cct p.A44P PLS3_ENST00000539310.1_5'UTR|PLS3_ENST00000355899.3_Missense_Mutation_p.A44P|PLS3_ENST00000537301.1_Missense_Mutation_p.A22P|PLS3_ENST00000289290.3_5'UTR NM_001136025.3|NM_001172335.1|NM_001282338.1 NP_001129497.1|NP_001165806.1|NP_001269267.1 P13797 PLST_HUMAN plastin 3 44 EF-hand 1. cytoplasm actin binding|calcium ion binding NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 CTTCAAGGAAGCTAATATGCC 0.343000 70 52 0 0 1 0 0 SPN 6693 broad.mit.edu 37 16 29675953 29675953 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:29675953G>A ENST00000360121.3 + 2 996 c.904G>A c.(904-906)Gcc>Acc p.A302T SPN_ENST00000395389.2_Missense_Mutation_p.A302T NM_001030288.2|NM_003123.4 NP_001025459.1|NP_003114.1 P16150 LEUK_HUMAN sialophorin 302 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 GGTGGTGGACGCCTGGGCTGG 0.726000 3 10 0 0 1 0 0 FAM13B 51306 broad.mit.edu 37 5 137342773 137342773 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr5:137342773C>T ENST00000033079.3 - 7 1205 c.754G>A c.(754-756)Gaa>Aaa p.E252K FAM13B_ENST00000420893.2_Missense_Mutation_p.E252K|FAM13B_ENST00000425075.2_Missense_Mutation_p.E134K NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B 252 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 GCACCCTCTTCTGGAAGTTCT 0.338000 18 61 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23111405 23111405 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:23111405G>C ENST00000400191.3 + 3 665 c.647G>C c.(646-648)aGc>aCc p.S216T EPHB2_ENST00000544305.1_Missense_Mutation_p.S216T|EPHB2_ENST00000374627.1_Missense_Mutation_p.S210T|EPHB2_ENST00000374632.3_Missense_Mutation_p.S216T|EPHB2_ENST00000374630.3_Missense_Mutation_p.S216T NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 216 Cys-rich. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GGGGCTGAGAGCACATCGCTG 0.627000 11 39 0 0 1 0 0 BIRC7 79444 broad.mit.edu 37 20 61867569 61867569 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr20:61867569G>A ENST00000217169.3 + 1 335 c.121G>A c.(121-123)Ggc>Agc p.G41S BIRC7_ENST00000342412.6_Missense_Mutation_p.G41S NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 41 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) CCCTGTCCTAGGCCTGGACAC 0.701000 8 12 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68257479 68257479 + Silent SNP C C T rs145738942 TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr14:68257479C>T ENST00000347230.4 - 15 2703 c.2565G>A c.(2563-2565)acG>acA p.T855T ZFYVE26_ENST00000555452.1_Silent_p.T855T NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 855 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCAGGTTGAACGTGAACAGCA 0.507000 51 12 0 0 1 0 0 USF1 7391 broad.mit.edu 37 1 161010620 161010620 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:161010620C>A ENST00000368021.3 - 8 807 c.603G>T c.(601-603)agG>agT p.R201S USF1_ENST00000368020.1_Missense_Mutation_p.R201S|USF1_ENST00000368019.1_Missense_Mutation_p.R173S|USF1_ENST00000435396.1_Missense_Mutation_p.R142S NM_007122.3 NP_009053.1 P22415 USF1_HUMAN upstream transcription factor 1 201 cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TATGCTGAGCCCTGCGTTTCT 0.498000 14 148 2.32078e-09 2.55231e-09 1 1 0 B4GALNT2 124872 broad.mit.edu 37 17 47210524 47210524 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:47210524G>A ENST00000300404.2 + 1 196 c.137G>A c.(136-138)aGa>aAa p.R46K B4GALNT2_ENST00000504681.1_Intron|B4GALNT2_ENST00000393354.2_Intron NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 46 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) TTGGAACTCAGAGGCGCTGAC 0.701000 3 2 0 0 1 0 0 CREB3L2 64764 broad.mit.edu 37 7 137590460 137590460 + Missense_Mutation SNP C C G rs143322667 byFrequency TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:137590460C>G ENST00000330387.6 - 6 1254 c.903G>C c.(901-903)aaG>aaC p.K301N CREB3L2_ENST00000456390.1_Missense_Mutation_p.K301N NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 301 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 TATTCTTGATCTTCCTCCGAA 0.522000 T FUS fibromyxoid sarcoma 47 166 0 0 1 0 0 C22orf29 79680 broad.mit.edu 37 22 19838803 19838803 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr22:19838803C>T ENST00000405640.1 - 2 1650 c.982G>A c.(982-984)Gag>Aag p.E328K GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.E328K|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.E328K Q7L3V2 CV029_HUMAN chromosome 22 open reading frame 29 328 NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) ACCTCCTCCTCTGTTTTCTGG 0.607000 11 7 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73065414 73065414 + RNA SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chrX:73065414C>T ENST00000429829.1 - 0 7174 NR_001564.2 TAATCACACACATAACAGGCC 0.493000 20 2 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3174751 3174751 + Silent SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr4:3174751C>A ENST00000355072.5 + 31 4204 c.4059C>A c.(4057-4059)ggC>ggA p.G1353G NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 1353 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TGAGGCCAGGCTTGTACCACT 0.597000 22 24 1.36565e-18 1.57679e-18 1 1 0 OASL 8638 broad.mit.edu 37 12 121476643 121476643 + Silent SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:121476643C>G ENST00000257570.5 - 1 402 c.132G>C c.(130-132)ctG>ctC p.L44L OASL_ENST00000339275.5_Silent_p.L44L NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 44 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GCTCCTGCCTCAGAAACTCCT 0.632000 16 14 0 0 1 0 0 GJD4 219770 broad.mit.edu 37 10 35896548 35896548 + Missense_Mutation SNP T T C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:35896548T>C ENST00000321660.1 + 2 265 c.107T>C c.(106-108)gTg>gCg p.V36A RP11-425A6.5_ENST00000609313.1_RNA NM_153368.2 NP_699199.2 Q96KN9 CXD4_HUMAN gap junction protein, delta 4, 40.1kDa 36 cell communication connexon complex|integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 CGGATGCTGGTGATTGTCTTG 0.587000 10 17 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119934748 119934748 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:119934748G>C ENST00000361035.4 + 7 1109 c.826G>C c.(826-828)Gaa>Caa p.E276Q HAO2_ENST00000325945.3_Missense_Mutation_p.E263Q Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 263 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) TGCTTTGACAGAAGTGGTGGC 0.493000 21 21 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802307 185802307 + Silent SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:185802307A>G ENST00000302277.6 + 4 2778 c.2184A>G c.(2182-2184)aaA>aaG p.K728K NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 728 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GGAAAACCAAAATGTCAAGCT 0.328000 22 57 0 0 1 0 0 FCGRT 2217 broad.mit.edu 37 19 50017194 50017194 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:50017194G>A ENST00000221466.5 + 3 615 c.129G>A c.(127-129)ggG>ggA p.G43G FCGRT_ENST00000596975.1_Silent_p.G43G|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000426395.3_Silent_p.G43G|FCGRT_ENST00000599988.1_Intron NM_001136019.2 NP_001129491.1 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 43 Alpha-1. antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) CTGCCCCGGGGACTCCTGCCT 0.662000 19 85 0 0 1 0 0 ACD 65057 broad.mit.edu 37 16 67694366 67694366 + Nonsense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67694366G>A ENST00000219251.8 - 1 347 c.16C>T c.(16-18)Cag>Tag p.Q6* ACD_ENST00000393919.4_Nonsense_Mutation_p.Q6* NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 6 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GCGTCACTCTGACAGCGGCCA 0.662000 19 10 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5397164 5397164 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr18:5397164C>A ENST00000341928.2 - 18 3074 c.2734G>T c.(2734-2736)Gct>Tct p.A912S EPB41L3_ENST00000427684.2_Missense_Mutation_p.A209S|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A912S|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A690S|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A217S|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A690S|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A743S NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 912 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TCCAGGACAGCTTTAGCGACC 0.552000 30 86 7.26314e-15 8.24224e-15 1 1 0 CNTLN 54875 broad.mit.edu 37 9 17394609 17394609 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:17394609G>A ENST00000380647.3 + 15 2241 c.2157G>A c.(2155-2157)atG>atA p.M719I CNTLN_ENST00000262360.5_Missense_Mutation_p.M719I|CNTLN_ENST00000425824.1_Missense_Mutation_p.M719I Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 719 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AAAAATTAATGAAAGAAAATG 0.323000 11 1 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603733 140603733 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr5:140603733C>A ENST00000239449.4 + 1 656 c.656C>A c.(655-657)tCc>tAc p.S219Y PCDHB14_ENST00000515856.2_Missense_Mutation_p.S66Y NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 219 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATGGTGGATCCCCGCCCAAG 0.473000 22 16 1.28384e-07 1.37916e-07 1 1 0 HLTF 6596 broad.mit.edu 37 3 148777540 148777540 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:148777540G>A ENST00000310053.5 - 13 1533 c.1340C>T c.(1339-1341)tCt>tTt p.S447F HLTF_ENST00000494055.1_Missense_Mutation_p.S447F|HLTF_ENST00000392912.2_Missense_Mutation_p.S447F|HLTF_ENST00000465259.1_Missense_Mutation_p.S446F NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 447 Helicase ATP-binding. chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TGTAGGAACAGATGAAGTTAA 0.274000 20 69 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145563083 145563083 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:145563083G>A ENST00000355594.4 + 10 2858 c.2771G>A c.(2770-2772)cGa>cAa p.R924Q NM_144698.3 NP_653299.4 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 924 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGGGCTTGCCGAGACAAGGAA 0.552000 35 5 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23399811 23399811 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:23399811G>C ENST00000400181.4 + 15 1753 c.1649G>C c.(1648-1650)aGa>aCa p.R550T KDM1A_ENST00000542151.1_Missense_Mutation_p.R550T|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.R526T NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 526 Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TCAAGAGACAGACAAATACTT 0.383000 112 20 0 0 1 0 0 SPATA8 145946 broad.mit.edu 37 15 97328285 97328285 + Missense_Mutation SNP T T C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:97328285T>C ENST00000328504.3 + 3 523 c.256T>C c.(256-258)Tcc>Ccc p.S86P SPATA8_ENST00000558553.1_Missense_Mutation_p.F45S NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 86 p.S86T(1) large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) GCCATCTGCTTCCCCACTGAT 0.453000 28 33 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17071916 17071916 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr22:17071916C>T ENST00000359963.3 - 1 1784 c.1525G>A c.(1525-1527)Gag>Aag p.E509K NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 509 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGCACCACCTCAGCCACTGCT 0.493000 67 81 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22389495 22389495 + Missense_Mutation SNP T T A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr4:22389495T>A ENST00000334304.5 - 19 4068 c.3799A>T c.(3799-3801)Agg>Tgg p.R1267W GPR125_ENST00000282943.5_5'UTR NM_145290.3 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 1267 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) GCTGGCTTCCTTAACGCATCT 0.448000 33 28 0 0 1 0 0 PVR 5817 broad.mit.edu 37 19 45153126 45153126 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:45153126G>C ENST00000425690.3 + 3 772 c.473G>C c.(472-474)gGa>gCa p.G158A PVR_ENST00000403059.4_Missense_Mutation_p.G158A|PVR_ENST00000344956.4_Missense_Mutation_p.G158A|PVR_ENST00000406449.4_Missense_Mutation_p.G158A|CTB-171A8.1_ENST00000590796.1_RNA NM_006505.3 NP_006496.3 P15151 PVR_HUMAN poliovirus receptor 158 Ig-like C2-type 1. adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) CAGCTCACTGGAGAGCCAGTG 0.607000 74 58 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121434205 121434205 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:121434205G>C ENST00000257555.6 + 5 1322 c.1096G>C c.(1096-1098)Gaa>Caa p.E366Q HNF1A_ENST00000543427.1_Missense_Mutation_p.E249Q|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.E366Q|HNF1A_ENST00000402929.1_Missense_Mutation_p.E366Q|HNF1A_ENST00000400024.2_Missense_Mutation_p.E366Q|HNF1A_ENST00000541395.1_Missense_Mutation_p.E366Q P20823 HNF1A_HUMAN HNF1 homeobox A 366 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GCTGAGTACAGAAGCCAAGCT 0.592000 Hepatic Adenoma, Familial Clustering of 71 34 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41215352 41215352 + Nonsense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:41215352C>A ENST00000309486.4 - 17 5330 c.4303G>T c.(4303-4305)Gag>Tag p.E1435* BRCA1_ENST00000491747.2_Nonsense_Mutation_p.E627*|BRCA1_ENST00000468300.1_Nonsense_Mutation_p.E627*|BRCA1_ENST00000357654.3_Nonsense_Mutation_p.E1731*|BRCA1_ENST00000586385.1_Nonsense_Mutation_p.E41*|BRCA1_ENST00000351666.3_Nonsense_Mutation_p.E548*|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.E1684*|BRCA1_ENST00000591534.1_Nonsense_Mutation_p.E222*|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.E1492*|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.E1752*|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.E1466*|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Nonsense_Mutation_p.E589* NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1731 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GTACTTACCTCATTCAGCATT 0.363000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 13 3 9.05144e-12 1.00984e-11 1 1 0 USP34 9736 broad.mit.edu 37 2 61622079 61622079 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:61622079C>A ENST00000398571.2 - 5 738 c.662G>T c.(661-663)gGc>gTc p.G221V NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 221 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GAGAGAAAGGCCATTTTTCCC 0.338000 13 31 0.0202918 0.0207856 1 1 0 KCNQ3 3786 broad.mit.edu 37 8 133192547 133192547 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:133192547C>T ENST00000388996.4 - 4 1054 c.634G>A c.(634-636)Gtg>Atg p.V212M KCNQ3_ENST00000521134.1_Missense_Mutation_p.V92M|KCNQ3_ENST00000519445.1_Missense_Mutation_p.V212M NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 212 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) ACAGCAACCACTGGCACAGAG 0.577000 15 46 0 0 1 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135111462 135111462 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:135111462G>T ENST00000368563.2 - 5 966 c.610C>A c.(610-612)Ccg>Acg p.P204T TUBGCP2_ENST00000543663.1_Missense_Mutation_p.P204T|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.P204T|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.P74T NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 204 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) GTACCTATCGGCAAAGCGGTG 0.542000 18 15 1.02788e-11 1.14401e-11 1 1 0 MTPAP 55149 broad.mit.edu 37 10 30658089 30658089 + Splice_Site SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:30658089C>T ENST00000488290.1 - 4 325 c.e4-1 Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 GGACAGGGCCCTGGAGAGAGG 0.592000 21 7 0 0 1 0 0 SOX7 83595 broad.mit.edu 37 8 10584169 10584169 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:10584169C>T ENST00000304501.1 - 2 324 c.246G>A c.(244-246)tcG>tcA p.S82S SOX7_ENST00000553390.1_Silent_p.S134S|SOX7_ENST00000554914.1_Silent_p.S134S NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 82 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding p.S82S(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) GCGCCTTCCACGACTTTCCTG 0.632000 12 3 0 0 1 0 0 INTS4P1 285905 broad.mit.edu 37 7 64639796 64639796 + RNA SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:64639796C>T ENST00000587624.1 + 0 679 CGTCTGCAGTCCATACATACC 0.448000 10 93 0 0 1 0 0 ITPKA 3706 broad.mit.edu 37 15 41794269 41794269 + Missense_Mutation SNP T T C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:41794269T>C ENST00000260386.5 + 4 931 c.878T>C c.(877-879)cTg>cCg p.L293P NM_002220.2 NP_002211.1 P23677 IP3KA_HUMAN inositol-trisphosphate 3-kinase A 293 Calmodulin-binding (By similarity). signal transduction ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity kidney(1)|lung(3)|skin(1) 5 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) AAGAAAATGCTGGCGGTGGAT 0.657000 8 25 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140080789 140080789 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:140080789C>T ENST00000323927.2 - 3 764 c.760G>A c.(760-762)Gag>Aag p.E254K NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 254 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) CTGACCCGCTCCAGCAGACTG 0.677000 8 5 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25819815 25819815 + Silent SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr4:25819815C>A ENST00000399878.3 - 9 1631 c.1509G>T c.(1507-1509)ctG>ctT p.L503L SEL1L3_ENST00000264868.5_Silent_p.L468L|SEL1L3_ENST00000502949.1_Silent_p.L350L NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 503 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 GTTTGTCTTTCAGCTCCTTCT 0.562000 12 1 7.03913e-09 7.66851e-09 1 1 0 TRMT10C 54931 broad.mit.edu 37 3 101283784 101283784 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:101283784G>C ENST00000309922.6 + 2 313 c.159G>C c.(157-159)gaG>gaC p.E53D NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) CTAAAAATGAGAGTACACCCC 0.373000 33 87 0 0 1 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26237967 26237967 + RNA SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:26237967A>G ENST00000519902.1 - 0 1981 ATAGAAATTGAAGAGGAAGAG 0.433000 3 15 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80847546 80847546 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:80847546C>T ENST00000355528.4 + 16 1666 c.1536C>T c.(1534-1536)gcC>gcT p.A512A TBCD_ENST00000397466.2_Silent_p.A126A|TBCD_ENST00000539345.2_Silent_p.A512A NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 512 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity p.A512A(1) Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CTCCGCAGGCCGCCTTCCAGG 0.502000 7 45 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78226435 78226435 + Missense_Mutation SNP A A T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:78226435A>T ENST00000361193.3 + 18 2021 c.1741A>T c.(1741-1743)Agg>Tgg p.R581W SLC26A11_ENST00000572725.1_Missense_Mutation_p.R581W|SLC26A11_ENST00000411502.3_Missense_Mutation_p.R581W|SLC26A11_ENST00000546047.2_Missense_Mutation_p.R581W NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 581 STAS. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GAAGCACCTGAGGCAGGAGCC 0.517000 10 126 0 0 1 0 0 NEK8 284086 broad.mit.edu 37 17 27062257 27062257 + Splice_Site SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:27062257G>A ENST00000268766.6 + 4 520 c.e4-1 NEK8_ENST00000593261.1_Splice_Site|AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) CTATCCTGCAGGTGGTGGGTA 0.577000 5 12 0 0 1 0 0 FAM86DP 692099 broad.mit.edu 37 3 75475655 75475655 + RNA SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:75475655C>T ENST00000459803.1 - 0 874 NR_024241.1 GTAAAGGCCACGTAGACCTCA 0.647000 4 53 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100813864 100813864 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:100813864G>C ENST00000323346.5 + 12 2010 c.1697G>C c.(1696-1698)aGa>aCa p.R566T SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.R516T NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 566 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 AAAGGACAGAGAGGAGCGACC 0.458000 18 3 0 0 1 0 0 MVD 4597 broad.mit.edu 37 16 88725111 88725111 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:88725111C>T ENST00000301012.3 - 2 117 c.88G>A c.(88-90)Gag>Aag p.E30K MVD_ENST00000568709.1_5'UTR NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase 30 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) AGAACCAGCTCTTCATCGCGC 0.622000 13 9 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140187497 140187497 + Missense_Mutation SNP T T G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr5:140187497T>G ENST00000530339.1 + 1 725 c.725T>G c.(724-726)tTt>tGt p.F242C PCDHA4_ENST00000512229.2_Missense_Mutation_p.F242C|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.F242C NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCCAGCTTTTGACAGAACC 0.423000 27 33 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63978797 63978797 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr11:63978797G>A ENST00000279227.5 + 5 660 c.565G>A c.(565-567)Gcc>Acc p.A189T FERMT3_ENST00000345728.5_Missense_Mutation_p.A189T NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 189 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 CTCGGACAGCGCCCAGACTGA 0.682000 14 4 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409260 105409260 + Silent SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr14:105409260G>C ENST00000333244.5 - 7 12647 c.12528C>G c.(12526-12528)ctC>ctG p.L4176L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4176 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGTGGTCTTGAGGTCCCCCT 0.657000 5 115 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39991632 39991632 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr20:39991632G>A ENST00000332312.3 - 4 769 c.577C>T c.(577-579)Ctg>Ttg p.L193L NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 193 proteinaceous extracellular matrix p.L193M(1) biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) GTTTGAGCCAGGCGCTGGACA 0.627000 10 21 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150933602 150933602 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:150933602G>A ENST00000271640.5 + 16 3254 c.3064G>A c.(3064-3066)Gag>Aag p.E1022K SETDB1_ENST00000368969.4_Missense_Mutation_p.E1022K NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 1022 SET. 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) AATGGAGGCTGAGAAGGCCTC 0.532000 22 75 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142570192 142570192 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:142570192G>A ENST00000359396.3 - 14 2073 c.1828C>T c.(1828-1830)Cgc>Tgc p.R610C NM_018646.3 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 610 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CACAGGCAGCGAGGCAGCTTC 0.627000 6 14 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43735236 43735236 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr22:43735236C>A ENST00000360835.4 - 2 220 c.94G>T c.(94-96)Gtc>Ttc p.V32F SCUBE1_ENST00000290460.7_Missense_Mutation_p.V32F NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) TCCACGTCGACTGACCCTGTG 0.597000 13 15 4.3838e-07 4.68753e-07 1 1 0 EPB41L2 2037 broad.mit.edu 37 6 131277440 131277440 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr6:131277440C>T ENST00000337057.3 - 2 367 c.186G>A c.(184-186)caG>caA p.Q62Q EPB41L2_ENST00000368128.2_Silent_p.Q62Q|EPB41L2_ENST00000527659.1_Silent_p.Q62Q|EPB41L2_ENST00000528282.1_Silent_p.Q62Q|EPB41L2_ENST00000445890.2_Silent_p.Q62Q|EPB41L2_ENST00000392427.3_Silent_p.Q62Q|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000527411.1_Silent_p.Q62Q|EPB41L2_ENST00000525193.1_Silent_p.Q62Q|EPB41L2_ENST00000525271.1_Silent_p.Q62Q|EPB41L2_ENST00000529208.1_Silent_p.Q62Q|EPB41L2_ENST00000530481.1_Silent_p.Q62Q NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 62 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TCTCTCTCTTCTGGCGGCGTA 0.483000 33 41 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 59001863 59001863 + Splice_Site SNP T T A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:59001863T>A ENST00000589222.1 + 13 1155 c.e13+2 BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000585744.1_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) ATACAAGTGGTAAGTTCGCTC 0.403000 16 145 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157470083 157470083 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr6:157470083C>T ENST00000346085.5 + 9 2878 c.2877C>T c.(2875-2877)agC>agT p.S959S ARID1B_ENST00000275248.4_Silent_p.S888S|ARID1B_ENST00000367148.1_Silent_p.S946S|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000350026.5_Silent_p.S946S NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 946 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAGCACAAAGCAGGTACGCCA 0.627000 4 5 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67686420 67686420 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67686420C>A ENST00000334583.6 + 28 3191 c.2863C>A c.(2863-2865)Cac>Aac p.H955N RLTPR_ENST00000545661.1_Missense_Mutation_p.H919N NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 955 Pro-rich. breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CCACGGTCTTCACCTGGTCCC 0.587000 17 15 5.45024e-15 6.21542e-15 1 1 0 IFNLR1 163702 broad.mit.edu 37 1 24483749 24483749 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:24483749G>A ENST00000327535.1 - 7 1446 c.1434C>T c.(1432-1434)agC>agT p.S478S IFNLR1_ENST00000374421.3_Silent_p.S449S|IFNLR1_ENST00000327575.2_3'UTR NM_170743.3|NM_173064.2 NP_734464.1|NP_775087.1 interferon, lambda receptor 1 CCTCAGGGCTGCTTTCCCAGC 0.637000 12 45 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67682983 67682983 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67682983C>T ENST00000334583.6 + 18 1924 c.1596C>T c.(1594-1596)ttC>ttT p.F532F RLTPR_ENST00000545661.1_Silent_p.F496F NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 532 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CCCCAGGCTTCGGCTCAGACA 0.617000 17 7 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41201840 41201840 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chrX:41201840G>C ENST00000399959.2 + 5 1232 c.377G>C c.(376-378)cGc>cCc p.R126P DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.R110P|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Missense_Mutation_p.R170P NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 126 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 GGAAACAGTCGCTGGTGTGAC 0.453000 HNSCC(61;0.18) 22 95 0 0 1 0 0 ENTPD1 953 broad.mit.edu 37 10 97602249 97602249 + Silent SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:97602249C>G ENST00000371207.3 + 4 510 c.447C>G c.(445-447)ctC>ctG p.L149L ENTPD1_ENST00000371203.5_Intron|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000543964.1_Silent_p.L29L|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000453258.2_Silent_p.L144L|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Silent_p.L137L NM_001164178.1 NP_001157650.1 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 137 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) TGCGGTTGCTCAGGTATAGCA 0.537000 23 8 0 0 1 0 0 C5AR1 728 broad.mit.edu 37 19 47823685 47823685 + Silent SNP G G A rs61733738 byFrequency TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:47823685G>A ENST00000355085.3 + 2 673 c.651G>A c.(649-651)acG>acA p.T217T NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 217 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CTCTACTCACGCTCACGATTT 0.622000 33 79 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16184341 16184341 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:16184341C>G ENST00000399408.2 + 19 2715 c.2540C>G c.(2539-2541)tCt>tGt p.S847C ABCC1_ENST00000346370.5_Missense_Mutation_p.S791C|ABCC1_ENST00000351154.5_Missense_Mutation_p.S788C|ABCC1_ENST00000399410.3_Missense_Mutation_p.S847C|ABCC1_ENST00000345148.5_Missense_Mutation_p.S847C|ABCC1_ENST00000349029.5_Missense_Mutation_p.S732C P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 847 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGCAAGATCTCTGAGATGGGC 0.607000 11 30 0 0 1 0 0 TOP1MT 116447 broad.mit.edu 37 8 144406279 144406279 + Nonsense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:144406279G>A ENST00000523676.1 - 8 961 c.556C>T c.(556-558)Cga>Tga p.R186* TOP1MT_ENST00000519148.1_Nonsense_Mutation_p.R186*|TOP1MT_ENST00000329245.4_Nonsense_Mutation_p.R284*|TOP1MT_ENST00000521193.1_Nonsense_Mutation_p.R186* Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 284 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) CGCAGGCGTCGAGCTGTTTCA 0.512000 31 125 0 0 1 0 0 POLDIP2 26073 broad.mit.edu 37 17 26678780 26678780 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:26678780C>G ENST00000540200.1 - 8 665 c.666G>C c.(664-666)aaG>aaC p.K222N POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 223 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGGGGTGATTCTTCTCTTGCC 0.507000 29 26 0 0 1 0 0 RRNAD1 51093 broad.mit.edu 37 1 156704188 156704188 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:156704188C>G ENST00000368216.4 + 6 1654 c.1024C>G c.(1024-1026)Cgt>Ggt p.R342G RRNAD1_ENST00000368218.4_Intron|RRNAD1_ENST00000476229.1_Intron NM_015997.3 NP_057081.3 Q96FB5 RRNAD_HUMAN ribosomal RNA adenine dimethylase domain containing 1 342 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3) 9 TCACTGCTACCGTGCAGCACT 0.642000 8 6 0 0 1 0 0 CSRNP1 64651 broad.mit.edu 37 3 39185627 39185627 + Splice_Site SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:39185627C>A ENST00000273153.5 - 4 958 c.e4+1 CSRNP1_ENST00000514182.1_Splice_Site NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 AGCCACCACACCTGGCACTTG 0.592000 46 4 8.00217e-19 9.28572e-19 1 1 0 ILDR1 286676 broad.mit.edu 37 3 121724095 121724095 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:121724095C>G ENST00000273691.3 - 3 480 c.375G>C c.(373-375)caG>caC p.Q125H ILDR1_ENST00000393631.1_Missense_Mutation_p.Q125H|ILDR1_ENST00000462014.1_Missense_Mutation_p.Q137H|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.Q125H NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 125 Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) ACTCACGGTTCTGGATGGTGA 0.627000 9 6 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374889 8374889 + Silent SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:8374889C>G ENST00000538603.1 - 7 1482 c.924G>C c.(922-924)ccG>ccC p.P308P FAM90A1_ENST00000307435.6_Silent_p.P308P NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 308 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) GACCCAGTCTCGGTTTCTTGG 0.627000 22 3 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64545301 64545301 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr14:64545301G>C ENST00000357395.3 + 55 11370 c.226G>C c.(226-228)Gag>Cag p.E76Q SYNE2_ENST00000344113.4_Missense_Mutation_p.E3714Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3747Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E3714Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E348Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.E76Q Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3714 Actin-binding.|CH 1. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAAAAATATTGAGAAAGCTCA 0.378000 20 23 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45923847 45923847 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr22:45923847C>G ENST00000348697.2 + 4 589 c.442C>G c.(442-444)Cag>Gag p.Q148E FBLN1_ENST00000442170.2_Missense_Mutation_p.Q148E|FBLN1_ENST00000262722.7_Missense_Mutation_p.Q148E|FBLN1_ENST00000327858.6_Missense_Mutation_p.Q148E|FBLN1_ENST00000340923.5_Missense_Mutation_p.Q148E|FBLN1_ENST00000402984.3_Missense_Mutation_p.Q186E P23142 FBLN1_HUMAN fibulin 1 148 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TGTCAAGAGCCAGGAGACCGG 0.587000 33 25 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19653728 19653728 + Nonsense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:19653728G>T ENST00000438132.3 + 22 2110 c.2062G>T c.(2062-2064)Gag>Tag p.E688* C16orf62_ENST00000542263.1_Nonsense_Mutation_p.E621*|C16orf62_ENST00000251143.5_Nonsense_Mutation_p.E599*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.E449*|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.E348*|C16orf62_ENST00000417362.2_Nonsense_Mutation_p.E532* NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 599 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 GCATCAACAAGAGCCCACCAA 0.428000 19 47 8.34094e-07 8.87782e-07 1 1 0 NLRP12 91662 broad.mit.edu 37 19 54313268 54313268 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:54313268C>G ENST00000324134.6 - 3 1813 c.1645G>C c.(1645-1647)Gcg>Ccg p.A549P NLRP12_ENST00000351894.4_Missense_Mutation_p.A549P|NLRP12_ENST00000391773.1_Missense_Mutation_p.A549P|NLRP12_ENST00000354278.3_Missense_Mutation_p.A549P|NLRP12_ENST00000391772.1_Missense_Mutation_p.A549P|NLRP12_ENST00000535162.1_Missense_Mutation_p.A549P|NLRP12_ENST00000345770.5_Missense_Mutation_p.A549P|NLRP12_ENST00000391775.3_Missense_Mutation_p.A549P NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 549 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TCAGAAAACGCGTACTCGGTC 0.572000 26 59 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56586079 56586079 + Silent SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:56586079C>G ENST00000323456.5 - 6 541 c.417G>C c.(415-417)ctG>ctC p.L139L MTMR4_ENST00000579925.1_Silent_p.L139L NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 139 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCTCCTCGGTCAGCCCCAGGC 0.572000 6 28 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69653875 69653875 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr6:69653875C>T ENST00000370598.1 + 6 2005 c.1184C>T c.(1183-1185)gCt>gTt p.A395V NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 395 TSP type-1 2. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TGTAATATTGCTCTTTGCCCA 0.418000 21 24 0 0 1 0 0 MIRLET7E 406887 broad.mit.edu 37 19 52196143 52196143 + RNA SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:52196143G>T ENST00000602324.1 - 0 566 NR_029482.1|NR_029693.1 GACGGGGCCCGGCGGGGACCC 0.657000 5 23 0.00116845 0.00120488 1 1 0 SRL 6345 broad.mit.edu 37 16 4242609 4242609 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:4242609C>T ENST00000399609.3 - 6 979 c.967G>A c.(967-969)Gag>Aag p.E323K SRL_ENST00000537996.1_Missense_Mutation_p.E281K NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 782 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 AGTCTGTTCTCGATCACCTGA 0.552000 26 33 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9462158 9462158 + Missense_Mutation SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr11:9462158A>G ENST00000379719.3 + 23 2994 c.2852A>G c.(2851-2853)gAt>gGt p.D951G NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 951 Asp-rich. interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) ATCATTGATGATGAAGATAAC 0.383000 26 37 0 0 1 0 0 SDHAP3 728609 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 4 30 0 0 1 0 0 HAUS5 23354 broad.mit.edu 37 19 36106236 36106236 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:36106236G>C ENST00000203166.5 + 6 458 c.433G>C c.(433-435)Gat>Cat p.D145H HAUS5_ENST00000379045.2_Missense_Mutation_p.D145H NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 145 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 TACGCTCCGAGATCCCATGCA 0.637000 8 6 0 0 1 0 0 CALHM1 255022 broad.mit.edu 37 10 105217991 105217991 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:105217991C>T ENST00000329905.5 - 1 654 c.518G>A c.(517-519)cGa>cAa p.R173Q RP11-225H22.4_ENST00000411906.1_RNA NM_001001412.3 NP_001001412.3 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 173 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding large_intestine(2)|liver(1)|lung(5)|ovary(1) 9 GGCCACCTCTCGGGCCAACAG 0.701000 24 37 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104642804 104642804 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr14:104642804C>G ENST00000315264.7 + 11 3640 c.3262C>G c.(3262-3264)Cgc>Ggc p.R1088G KIF26A_ENST00000423312.2_Missense_Mutation_p.R1227G Q9ULI4 KI26A_HUMAN kinesin family member 26A 1227 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GGGCTGTGCTCGCCTGGGCCA 0.701000 8 2 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67686428 67686428 + Silent SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67686428C>A ENST00000334583.6 + 28 3199 c.2871C>A c.(2869-2871)gtC>gtA p.V957V RLTPR_ENST00000545661.1_Silent_p.V921V NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 957 Pro-rich. breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) TTCACCTGGTCCCCTTCATTC 0.587000 17 13 4.26978e-12 4.77514e-12 1 1 0 SH3D21 79729 broad.mit.edu 37 1 36785787 36785787 + Missense_Mutation SNP C C T rs150094016 byFrequency TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:36785787C>T ENST00000453908.2 + 14 1551 c.1523C>T c.(1522-1524)tCg>tTg p.S508L SH3D21_ENST00000312808.4_Missense_Mutation_p.S154L|SH3D21_ENST00000426732.2_Missense_Mutation_p.S392L|SH3D21_ENST00000505871.1_Missense_Mutation_p.S397L|SH3D21_ENST00000474766.1_3'UTR NM_001162530.1 NP_001156002.1 A4FU49 SH321_HUMAN SH3 domain containing 21 392 endometrium(1)|large_intestine(6)|lung(4)|pancreas(1) 12 CACTTCTCTTCGGAGGAAGCC 0.557000 27 1 0 0 1 0 0 RGS8 85397 broad.mit.edu 37 1 182617314 182617314 + Silent SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:182617314A>G ENST00000483095.2 - 6 575 c.318T>C c.(316-318)caT>caC p.H106H RGS8_ENST00000258302.4_Silent_p.H124H|RGS8_ENST00000367556.1_Silent_p.H106H|RGS8_ENST00000367557.4_Silent_p.H106H P57771 RGS8_HUMAN regulator of G-protein signaling 8 106 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 CAAAGATCCTATGGGCCTTAG 0.522000 49 161 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31846311 31846311 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr22:31846311C>G ENST00000397525.1 - 11 1771 c.1548G>C c.(1546-1548)gaG>gaC p.E516D EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.E341D|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.E516D|EIF4ENIF1_ENST00000382180.2_Intron|EIF4ENIF1_ENST00000397523.1_Intron NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 516 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GGCCTGGAATCTCAGCAGGGG 0.423000 54 75 0 0 1 0 0 IGLV5-45 28781 broad.mit.edu 37 22 22730729 22730729 + RNA SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr22:22730729C>A ENST00000390296.2 + 0 252 AAATCAGACTCAGATAAGCAG 0.532000 30 183 4.22769e-11 4.67165e-11 1 1 0 DDX19B 11269 broad.mit.edu 37 16 70359531 70359531 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:70359531G>C ENST00000288071.6 + 7 792 c.547G>C c.(547-549)Gaa>Caa p.E183Q DDX19B_ENST00000568625.1_Missense_Mutation_p.E74Q|DDX19B_ENST00000393657.2_Missense_Mutation_p.E74Q|DDX19B_ENST00000563392.1_Missense_Mutation_p.E74Q|DDX19B_ENST00000563206.1_Missense_Mutation_p.E188Q|DDX19B_ENST00000355992.3_Missense_Mutation_p.E152Q|DDX19B_ENST00000451014.3_Missense_Mutation_p.E157Q|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.E183Q NM_007242.5 NP_009173.1 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 183 Helicase ATP-binding. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) AAAAGTGATTGAACAAATGGG 0.413000 177 99 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304884 102304884 + RNA SNP G G A rs143982735 by1000genomes TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:102304884G>A ENST00000561463.1 + 0 12930 GCGTGGGAACGAGAAGACACT 0.562000 3 24 0 0 1 0 0 PARP9 83666 broad.mit.edu 37 3 122269628 122269628 + Nonsense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:122269628C>A ENST00000462315.1 - 6 1422 c.1129G>T c.(1129-1131)Gag>Tag p.E377* PARP9_ENST00000360356.2_Nonsense_Mutation_p.E412*|PARP9_ENST00000477522.2_Nonsense_Mutation_p.E377*|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Nonsense_Mutation_p.E377* NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 412 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) TCCAAACACTCCTTCATTGCA 0.383000 7 24 0.000157383 0.000164489 1 1 0 MDN1 23195 broad.mit.edu 37 6 90422415 90422415 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr6:90422415C>G ENST00000369393.3 - 48 7424 c.7309G>C c.(7309-7311)Gat>Cat p.D2437H MDN1_ENST00000428876.1_Missense_Mutation_p.D2437H Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2437 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GGCACAGAATCTGGCCACAGT 0.473000 26 10 0 0 1 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92981717 92981717 + Missense_Mutation SNP T T C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:92981717T>C ENST00000268164.3 + 4 662 c.425T>C c.(424-426)cTc>cCc p.L142P ST8SIA2_ENST00000539113.1_Missense_Mutation_p.L121P NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 142 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) CTCTACGAGCTCCTCCCCAGG 0.517000 41 42 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134125752 134125752 + Missense_Mutation SNP T T A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:134125752T>A ENST00000220616.4 + 44 7699 c.7659T>A c.(7657-7659)gaT>gaA p.D2553E TG_ENST00000542445.1_Missense_Mutation_p.D923E|TG_ENST00000519543.1_Missense_Mutation_p.D686E|TG_ENST00000377869.1_Missense_Mutation_p.D2496E NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2553 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGACTCAGATGCCCGCGTCG 0.532000 14 33 0 0 1 0 0 FICD 11153 broad.mit.edu 37 12 108912308 108912308 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:108912308G>A ENST00000552695.1 + 3 668 c.433G>A c.(433-435)Gag>Aag p.E145K FICD_ENST00000361549.2_3'UTR NM_007076.2 NP_009007.2 Q9BVA6 FICD_HUMAN FIC domain containing 145 negative regulation of Rho GTPase activity integral to membrane binding|protein adenylyltransferase activity NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2) 15 CGCGCTCACCGAGTTTGGCAT 0.557000 22 3 0 0 1 0 0 ACD 65057 broad.mit.edu 37 16 67693322 67693322 + Splice_Site SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67693322G>A ENST00000219251.8 - 5 994 c.663C>T c.(661-663)tgC>tgT p.C221C ACD_ENST00000393919.4_Splice_Site_p.C224C NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 224 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) AGTCTTGGTTGCTAAGAAAAA 0.572000 9 16 0 0 1 0 0 DUS4L 11062 broad.mit.edu 37 7 107215699 107215699 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:107215699G>A ENST00000265720.3 + 6 785 c.423G>A c.(421-423)gtG>gtA p.V141V DUS4L_ENST00000402620.1_Silent_p.V20V NM_001270419.1|NM_181581.2 NP_001257348.1|NP_853559.1 O95620 DUS4L_HUMAN dihydrouridine synthase 4-like (S. cerevisiae) 141 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 AAGACATGGTGAAACAAGTAA 0.348000 55 51 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107646764 107646764 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:107646764G>A ENST00000374736.3 - 4 640 c.246C>T c.(244-246)ttC>ttT p.F82F ABCA1_ENST00000423487.2_Silent_p.F82F|ABCA1_ENST00000374733.1_Silent_p.F22F NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 82 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCGGGTAACGGAAACAGGGGT 0.458000 33 4 0 0 1 0 0 TGS1 96764 broad.mit.edu 37 8 56698280 56698280 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:56698280G>A ENST00000260129.5 + 3 646 c.169G>A c.(169-171)Gac>Aac p.D57N NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 57 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) GTCTATAGGAGACCAGGCGAC 0.423000 7 15 0 0 1 0 0 MITD1 129531 broad.mit.edu 37 2 99787986 99787986 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:99787986C>G ENST00000289359.2 - 3 453 c.377G>C c.(376-378)aGa>aCa p.R126T MITD1_ENST00000466880.1_5'UTR|MRPL30_ENST00000410042.1_Intron NM_138798.1 NP_620153.1 Q8WV92 MITD1_HUMAN MIT, microtubule interacting and transport, domain containing 1 126 protein transport late endosome membrane large_intestine(3)|lung(2)|ovary(1) 6 ATGAGTATGTCTAATATAAGG 0.289000 23 64 0 0 1 0 0 ASL 435 broad.mit.edu 37 7 65552352 65552352 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:65552352G>C ENST00000304874.9 + 9 736 c.634G>C c.(634-636)Gac>Cac p.D212H ASL_ENST00000395332.3_Missense_Mutation_p.D212H|ASL_ENST00000395331.3_Missense_Mutation_p.D212H|ASL_ENST00000380839.4_Missense_Mutation_p.D186H NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 212 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) CCTGGGTGTGGACCGAGAGCT 0.627000 12 21 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67683513 67683513 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67683513C>G ENST00000334583.6 + 20 2238 c.1910C>G c.(1909-1911)tCg>tGg p.S637W RLTPR_ENST00000545661.1_Missense_Mutation_p.S601W NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 637 Tropomodulin-like. breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CGGGTCAACTCGAGGCTCCGG 0.701000 14 6 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20423011 20423011 + Splice_Site SNP G G A rs145221195 by1000genomes TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:20423011G>A ENST00000331849.4 + 2 351 c.e2+1 ACSM5_ENST00000575584.1_Splice_Site NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GCTGGAAGAGGTGAAGCCTGT 0.552000 5 19 0 0 1 0 0 FAM151A 338094 broad.mit.edu 37 1 55074960 55074960 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:55074960G>A ENST00000302250.2 - 8 1899 c.1739C>T c.(1738-1740)gCt>gTt p.A580V ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.A393V|ACOT11_ENST00000371316.3_Intron NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 580 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 ACCAACATGAGCCAGCAAGTC 0.592000 13 6 0 0 1 0 0 SMURF2 64750 broad.mit.edu 37 17 62547774 62547774 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:62547774C>A ENST00000262435.9 - 16 1984 c.1797G>T c.(1795-1797)ttG>ttT p.L599F NM_022739.3 NP_073576.1 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 599 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity p.L591fs*5(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) TCTGCAGAGCCAAGAATTGAG 0.378000 35 202 9.8876e-21 1.15898e-20 1 1 0 THEMIS2 9473 broad.mit.edu 37 1 28211907 28211907 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:28211907G>T ENST00000373921.3 + 5 1825 c.1821G>T c.(1819-1821)aaG>aaT p.K607N THEMIS2_ENST00000373925.1_Missense_Mutation_p.D250Y|THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000373927.3_Missense_Mutation_p.D113Y|THEMIS2_ENST00000328928.7_Missense_Mutation_p.K478N NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 CGTACAGCAAGATTCCTGCCC 0.582000 21 3 1.96292e-10 2.16389e-10 1 1 0 ROCK2 9475 broad.mit.edu 37 2 11332607 11332607 + Missense_Mutation SNP T T C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:11332607T>C ENST00000315872.6 - 31 4367 c.3919A>G c.(3919-3921)Aaa>Gaa p.K1307E ROCK2_ENST00000401753.1_Missense_Mutation_p.K1064E NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 1307 PH. 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) TCCTCCTTTTTGTCCATATGA 0.393000 15 50 0 0 1 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99968657 99968657 + Translation_Start_Site SNP A A T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:99968657A>T ENST00000314594.5 + 0 1089 R3HCC1L_ENST00000370584.3_Silent_p.G262G|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000298999.3_Silent_p.G262G NM_001256619.1 NP_001243548.1 R3H domain and coiled-coil containing 1-like CCAGCAGCGGAGGCATCACCA 0.398000 29 10 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802159 185802159 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:185802159C>T ENST00000302277.6 + 4 2630 c.2036C>T c.(2035-2037)aCt>aTt p.T679I NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 679 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 ACATGGAATACTGAATACAAC 0.323000 27 80 0 0 1 0 0 SMO 6608 broad.mit.edu 37 7 128846180 128846180 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:128846180C>T ENST00000249373.3 + 5 1390 c.1110C>T c.(1108-1110)gtC>gtT p.V370V NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 370 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TCCCCTTTGTCCTCACTGTGG 0.587000 Mis skin basal cell 48 36 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108133218 108133218 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:108133218G>C ENST00000273353.3 - 31 4122 c.4066C>G c.(4066-4068)Cga>Gga p.R1356G NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1356 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TACTGCTCTCGTAGAAGGTCA 0.498000 3 52 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35042939 35042939 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:35042939G>C ENST00000312292.5 + 2 360 c.313G>C c.(313-315)Gag>Cag p.E105Q C9orf131_ENST00000354479.5_Missense_Mutation_p.E32Q|C9orf131_ENST00000421362.2_Missense_Mutation_p.E57Q NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 105 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) aggggaagaagaggaagaggg 0.527000 35 27 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46325293 46325293 + Missense_Mutation SNP A A C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:46325293A>C ENST00000369367.3 - 10 1070 c.837T>G c.(835-837)caT>caG p.H279Q SCAF11_ENST00000419565.2_Missense_Mutation_p.H279Q|SCAF11_ENST00000549162.1_Missense_Mutation_p.H87Q NM_004719.2 NP_004710.2 Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 279 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 CTTTACCAAAATGTTCGAAAG 0.299000 4 16 0 0 1 0 0 RAB22A 57403 broad.mit.edu 37 20 56918777 56918777 + Silent SNP A A T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr20:56918777A>T ENST00000244040.3 + 3 401 c.120A>T c.(118-120)gcA>gcT p.A40A RAB22A_ENST00000488949.1_3'UTR NM_020673.2 NP_065724.1 Q9UL26 RB22A_HUMAN RAB22A, member RAS oncogene family 40 endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction early endosome|endosome membrane|plasma membrane GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1) 6 all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07) TTTATAGGGCATCTTTTATGA 0.398000 47 37 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179612805 179612805 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:179612805C>T ENST00000360870.5 - 46 14544 c.14322G>A c.(14320-14322)aaG>aaA p.K4774K TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 886 Ig-like 28. 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) CCCCTAAAGGCTTTTCCTCAC 0.423000 12 39 0 0 1 0 0 KRBA2 124751 broad.mit.edu 37 17 8273648 8273648 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:8273648C>T ENST00000396267.1 - 2 868 c.37G>A c.(37-39)Gtt>Att p.V13I RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.V95I Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 95 DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1) 18 GCATTTGAAACCCCAGGTGGA 0.373000 14 33 0 0 1 0 0 IL6R 3570 broad.mit.edu 37 1 154408493 154408493 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:154408493C>A ENST00000368485.3 + 6 1293 c.856C>A c.(856-858)Ctg>Atg p.L286M IL6R_ENST00000507256.1_Intron|IL6R_ENST00000344086.4_Missense_Mutation_p.L286M NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor 286 Fibronectin type-III. acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTGGAGCGGCCTGAGGCACGT 0.667000 3 4 0.115264 0.116522 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25451445 25451445 + RNA SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:25451445A>G ENST00000424208.1 + 0 2384 SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-20_ENST00000365099.1_RNA NR_003305.1 TCCTGAAGAGAGGTGATGACT 0.498000 5 284 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138823238 138823238 + Nonsense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chrX:138823238G>A ENST00000370557.1 - 27 4064 c.3037C>T c.(3037-3039)Cga>Tga p.R1013* ATP11C_ENST00000327569.3_Nonsense_Mutation_p.R1019*|ATP11C_ENST00000359686.2_Nonsense_Mutation_p.R1019*|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.R1019*|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.R1019* Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 1019 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) GTCCAGAATCGGGTATCCAAG 0.388000 17 22 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115791981 115791981 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr4:115791981C>T ENST00000264363.2 - 7 2340 c.1662G>A c.(1660-1662)gtG>gtA p.V554V NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 554 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GGGCCAGTTGCACTGGAGGCA 0.458000 12 6 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140285017 140285017 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:140285017G>A ENST00000458420.3 + 17 2980 c.2790G>A c.(2788-2790)ggG>ggA p.G930G NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 930 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 AGGAGGAAGGGATGGGCAGAG 0.607000 HNSCC(16;0.037) 3 14 0 0 1 0 0 SUSD5 26032 broad.mit.edu 37 3 33194469 33194469 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:33194469C>A ENST00000309558.3 - 5 2072 c.1655G>T c.(1654-1656)aGt>aTt p.S552I NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 552 cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 AAGCTCCTCACTTGCACCTGG 0.582000 7 22 0.0293803 0.0298969 1 1 0 KIAA0556 23247 broad.mit.edu 37 16 27781290 27781290 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:27781290C>T ENST00000261588.4 + 21 4103 c.4084C>T c.(4084-4086)Ctc>Ttc p.L1362F NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1362 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 TCAAGAAATCCTCTTCGTGGA 0.647000 31 80 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4935421 4935421 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:4935421G>A ENST00000345988.2 - 22 3324 c.3235C>T c.(3235-3237)Cgc>Tgc p.R1079C PPL_ENST00000590782.2_Missense_Mutation_p.R1077C NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 1079 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TGGTCCTGGCGCTGGTGGTCC 0.617000 20 31 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71054178 71054178 + Missense_Mutation SNP T T C rs117718337 TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:71054178T>C ENST00000393567.2 - 22 3379 c.3229A>G c.(3229-3231)Ata>Gta p.I1077V HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1077 I -> V (in dbSNP:rs6416709). p.I1077V(3)|p.I1029V(3) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATGTTCTTTATGGCCAAGGGC 0.418000 4 41 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10863033 10863033 + RNA SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr21:10863033C>T ENST00000559480.1 + 0 329 p.T110K(1) breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 TCTGAGGACACGGCCATGTAT 0.502000 60 659 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14839133 14839133 + Silent SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:14839133G>C ENST00000261170.3 - 3 493 c.357C>G c.(355-357)ctC>ctG p.L119L RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 119 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AGGGCCCTATGAGGACACAGC 0.413000 10 6 0 0 1 0 0 ZNF558 148156 broad.mit.edu 37 19 8932723 8932723 + Nonsense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:8932723G>A ENST00000601372.1 - 6 787 c.76C>T c.(76-78)Cag>Tag p.Q26* CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000301475.1_Nonsense_Mutation_p.Q26* Q96NG5 ZN558_HUMAN zinc finger protein 558 26 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 TCTCCGCCCTGTGTGTGTCCT 0.517000 121 13 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35800054 35800054 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:35800054C>G ENST00000342694.2 + 4 1278 c.1023C>G c.(1021-1023)atC>atG p.I341M NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 341 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) ATGATGGGATCCTGCTATATG 0.527000 53 83 0 0 1 0 0 THAP9 79725 broad.mit.edu 37 4 83839948 83839948 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr4:83839948G>A ENST00000302236.5 + 5 2634 c.2583G>A c.(2581-2583)gaG>gaA p.E861E LIN54_ENST00000505905.1_Intron NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 861 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) ATCATTCAGAGAGAACTGATA 0.318000 17 40 0 0 1 0 0 KIAA0930 23313 broad.mit.edu 37 22 45601141 45601141 + Missense_Mutation SNP A A T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr22:45601141A>T ENST00000336156.5 - 5 538 c.473T>A c.(472-474)aTc>aAc p.I158N KIAA0930_ENST00000251993.7_Missense_Mutation_p.I163N|KIAA0930_ENST00000391627.2_Missense_Mutation_p.I124N|KIAA0930_ENST00000443310.3_Missense_Mutation_p.I140N NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 GGGGTAGCTGATCTTGGACTC 0.552000 44 36 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42335371 42335371 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:42335371G>T ENST00000262418.6 - 11 1420 c.1265C>A c.(1264-1266)aCc>aAc p.T422N AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 422 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GCCGCCGAAGGTGATGGCGGG 0.572000 14 17 1.36491e-13 1.53015e-13 1 1 0 BRCA1 672 broad.mit.edu 37 17 41223190 41223190 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:41223190C>T ENST00000309486.4 - 14 4880 c.3853G>A c.(3853-3855)Gaa>Aaa p.E1285K BRCA1_ENST00000491747.2_Missense_Mutation_p.E477K|BRCA1_ENST00000468300.1_Missense_Mutation_p.E477K|BRCA1_ENST00000357654.3_Missense_Mutation_p.E1581K|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.E398K|BRCA1_ENST00000493795.1_Missense_Mutation_p.E1534K|BRCA1_ENST00000591534.1_Missense_Mutation_p.E72K|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E1602K|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.E439K NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1581 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GCTCTGTCTTCAGAAGGATCA 0.473000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 81 6 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179545002 179545002 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:179545002C>G ENST00000589042.1 - 139 33621 c.33397G>C c.(33397-33399)Gaa>Caa p.E11133Q TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10816Q|TTN_ENST00000342992.6_Missense_Mutation_p.E9889Q|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10816 Glu-rich.|Pro-rich. 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) GGTGCTACTTCTTTTCTAGGG 0.393000 61 50 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78369213 78369213 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr11:78369213C>A ENST00000278550.7 - 34 8662 c.8200G>T c.(8200-8202)Gtg>Ttg p.V2734L NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TAGCCTTGCACCCGCCCTGTG 0.622000 69 100 7.75977e-34 9.23592e-34 1 1 0 CACUL1 143384 broad.mit.edu 37 10 120514104 120514104 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:120514104C>T ENST00000369151.3 - 1 654 c.171G>A c.(169-171)ctG>ctA p.L57L CACUL1_ENST00000340214.4_Silent_p.L57L NM_153810.4 NP_722517.3 CDK2-associated, cullin domain 1 GCACCGCCAGCAGCTGCCCCC 0.736000 3 11 0 0 1 0 0 CYP21A1P 1590 broad.mit.edu 37 6 31975151 31975151 + RNA SNP T T A rs115914286 by1000genomes TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr6:31975151T>A ENST00000342991.6 + 0 1274 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GGAAGGGCACTTGCACATGGC 0.607000 23 37 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94655486 94655486 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:94655486C>G ENST00000260526.6 - 13 1617 c.1435G>C c.(1435-1437)Gat>Cat p.D479H ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 479 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TCTCACCCATCAACTTTTTCT 0.348000 15 44 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140082285 140082285 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:140082285C>T ENST00000323927.2 - 2 392 c.388G>A c.(388-390)Gag>Aag p.E130K NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 130 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) TCCAGCAGCTCTAGGCTACGC 0.582000 55 30 0 0 1 0 0 SH2D5 400745 broad.mit.edu 37 1 21050658 21050658 + Silent SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:21050658G>T ENST00000375031.1 - 6 1089 c.465C>A c.(463-465)gcC>gcA p.A155A SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Silent_p.A239A NM_001103160.1 NP_001096630.1 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 155 lung(4)|prostate(1)|upper_aerodigestive_tract(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGCTGCGAATGGCCTTCTTGC 0.657000 17 70 9.16793e-09 9.96421e-09 1 1 0 MCM4 4173 broad.mit.edu 37 8 48883197 48883197 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:48883197C>G ENST00000262105.2 + 11 1770 c.1561C>G c.(1561-1563)Cag>Gag p.Q521E MCM4_ENST00000523944.1_Missense_Mutation_p.Q521E|MCM4_ENST00000518680.1_3'UTR NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 521 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CCAGCTGCTGCAGTACGTGTA 0.552000 15 41 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023272 18023272 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:18023272C>T ENST00000205890.5 + 2 1496 c.1158C>T c.(1156-1158)ggC>ggT p.G386G NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 386 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GCGTCTATGGCGGTGGGGACG 0.607000 26 63 0 0 1 0 0 NKX2-2 4821 broad.mit.edu 37 20 21494213 21494213 + Missense_Mutation SNP G G A rs115780948 byFrequency TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr20:21494213G>A ENST00000377142.4 - 1 451 c.95C>T c.(94-96)cCg>cTg p.P32L NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 32 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 CTCTTCCTCCGGACCTTCGGC 0.652000 14 48 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12149955 12149955 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:12149955C>G ENST00000263035.4 + 12 2157 c.2095C>G c.(2095-2097)Cat>Gat p.H699D NM_018706.5 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 699 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) CCTCCTTCCACATGGCTACGA 0.542000 16 18 0 0 1 0 0 ZG16B 124220 broad.mit.edu 37 16 2882135 2882135 + Nonsense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:2882135C>A ENST00000382280.3 + 4 681 c.602C>A c.(601-603)tCa>tAa p.S201* ZG16B_ENST00000572863.1_Nonsense_Mutation_p.S171* NM_145252.2 NP_660295.2 Q96DA0 ZG16B_HUMAN zymogen granule protein 16B 201 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 CTCACATACTCAGCAAACTCA 0.542000 20 32 4.35082e-09 4.75101e-09 1 1 0 MUC4 4585 broad.mit.edu 37 3 195516194 195516194 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:195516194C>T ENST00000463781.3 - 2 2716 c.2257G>A c.(2257-2259)Gga>Aga p.G753R MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G753R NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 758 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTCCATTGTCCTTCTGGGCCC 0.587000 17 62 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33474568 33474568 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:33474568C>G ENST00000265371.4 - 16 2944 c.2419G>C c.(2419-2421)Gaa>Caa p.E807Q NRP1_ENST00000395995.1_Missense_Mutation_p.E807Q|NRP1_ENST00000374875.1_Missense_Mutation_p.E619Q|NRP1_ENST00000374867.2_Missense_Mutation_p.E807Q O14786 NRP1_HUMAN neuropilin 1 807 MAM. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) GCACAATCTTCTTGTGAAATG 0.408000 8 18 0 0 1 0 0 LGI3 203190 broad.mit.edu 37 8 22011489 22011489 + Silent SNP C C G rs143382116 TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:22011489C>G ENST00000306317.2 - 5 775 c.486G>C c.(484-486)ctG>ctC p.L162L LGI3_ENST00000424267.2_Silent_p.L138L NM_139278.2 NP_644807.1 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 162 exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) ACAAGTCATTCAGGATGTCCA 0.557000 10 37 0 0 1 0 0 SLC23A2 9962 broad.mit.edu 37 20 4839995 4839995 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr20:4839995G>C ENST00000379333.1 - 16 2052 c.1660C>G c.(1660-1662)Ctc>Gtc p.L554V SLC23A2_ENST00000338244.1_Missense_Mutation_p.L554V|SLC23A2_ENST00000424750.2_Missense_Mutation_p.L440V NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 554 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GCAGTTGTGAGAAGGACGTTC 0.443000 34 53 0 0 1 0 0 IFIT5 24138 broad.mit.edu 37 10 91178053 91178053 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:91178053G>A ENST00000371795.4 + 2 1310 c.1097G>A c.(1096-1098)cGt>cAt p.R366H IFIT5_ENST00000416601.1_Missense_Mutation_p.R318H NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 366 binding endometrium(1)|large_intestine(4)|lung(4) 9 AAAGCTCTTCGTCTGGAGAAC 0.453000 10 4 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304883 102304883 + RNA SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:102304883C>G ENST00000561463.1 + 0 12929 CGCGTGGGAACGAGAAGACAC 0.562000 3 24 0 0 1 0 0 DDX54 79039 broad.mit.edu 37 12 113603828 113603828 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:113603828C>T ENST00000314045.7 - 13 1451 c.1424G>A c.(1423-1425)gGt>gAt p.G475D DDX54_ENST00000306014.5_Missense_Mutation_p.G475D NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 475 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCCATCCACACCGGCCACACC 0.667000 3 7 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9007506 9007506 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:9007506G>A ENST00000397910.4 - 43 39665 c.39462C>T c.(39460-39462)tcC>tcT p.S13154S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13156 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGGGACGGGGGATGGAGTCC 0.473000 7 26 0 0 1 0 0 DNM1 1759 broad.mit.edu 37 9 130982561 130982561 + Missense_Mutation SNP T T C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:130982561T>C ENST00000341179.7 + 6 882 c.790T>C c.(790-792)Tct>Cct p.S264P DNM1_ENST00000486160.1_Missense_Mutation_p.S264P|DNM1_ENST00000372923.3_Missense_Mutation_p.S264P|DNM1_ENST00000393594.3_Missense_Mutation_p.S264P|DNM1_ENST00000475805.1_Missense_Mutation_p.S264P NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 264 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 CTCCCATCCATCTTATCGCCA 0.557000 49 8 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104121046 104121046 + Splice_Site SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:104121046A>G ENST00000388887.2 + 47 5057 c.4853A>G c.(4852-4854)gAg>gGg p.E1618G NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1618 FAS1 5. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TTCCCACAGGAGCATTTCGTG 0.507000 66 84 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73929847 73929847 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:73929847C>T ENST00000476977.1 + 4 2033 c.342C>T c.(340-342)ctC>ctT p.L114L GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Silent_p.L114L|GTF2IRD1_ENST00000455841.2_Silent_p.L146L|GTF2IRD1_ENST00000424337.2_Silent_p.L114L Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 114 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GCCGTAGCCTCCCTCGGTCCT 0.592000 34 2 0 0 1 0 0 MBOAT1 154141 broad.mit.edu 37 6 20126786 20126786 + Nonsense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr6:20126786G>A ENST00000541730.1 - 6 824 c.229C>T c.(229-231)Cga>Tga p.R77* MBOAT1_ENST00000536798.1_Nonsense_Mutation_p.R226*|MBOAT1_ENST00000324607.7_Nonsense_Mutation_p.R226* Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 226 phospholipid biosynthetic process integral to membrane acyltransferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) AAACCTTTTCGCTTCCAGTTC 0.443000 75 20 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39947622 39947622 + Translation_Start_Site SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr21:39947622C>T ENST00000442448.1 - 3 274 c.3G>A c.(1-3)atG>atA p.M1I ERG_ENST00000398897.1_5'UTR|ERG_ENST00000417133.2_Start_Codon_SNP_p.M1I|ERG_ENST00000398911.1_Start_Codon_SNP_p.M1I|ERG_ENST00000398919.2_Start_Codon_SNP_p.M1I|ERG_ENST00000398910.1_Start_Codon_SNP_p.M1I|ERG_ENST00000485493.1_5'UTR NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) CAGTCTGAATCATGTCCTTCA 0.478000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 21 18 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141799460 141799460 + Silent SNP T T C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:141799460T>C ENST00000475668.2 + 67 7851 c.7797T>C c.(7795-7797)ccT>ccC p.P2599P MGAM_ENST00000549489.2_Silent_p.P1703P O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1703 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGCCAGCCCCTCTTGACCACA 0.527000 25 40 0 0 1 0 0 TRGV4 6977 broad.mit.edu 37 7 38393325 38393325 + RNA SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:38393325G>T ENST00000390345.2 - 0 678 GCCCATCCCAGGTGGCACAGT 0.488000 4 47 0.150653 0.151636 1 1 0 BRCA1 672 broad.mit.edu 37 17 41223131 41223131 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:41223131C>T ENST00000309486.4 - 14 4939 c.3912G>A c.(3910-3912)ttG>ttA p.L1304L BRCA1_ENST00000491747.2_Silent_p.L496L|BRCA1_ENST00000468300.1_Silent_p.L496L|BRCA1_ENST00000357654.3_Silent_p.L1600L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Silent_p.L417L|BRCA1_ENST00000493795.1_Silent_p.L1553L|BRCA1_ENST00000591534.1_Silent_p.L91L|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000471181.2_Silent_p.L1621L|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Silent_p.L458L NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1600 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GGGGAACTTTCAATGCAGAGG 0.473000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 92 9 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94089138 94089138 + Silent SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr14:94089138C>G ENST00000553484.1 + 31 5779 c.5625C>G c.(5623-5625)ctC>ctG p.L1875L UNC79_ENST00000393151.2_Silent_p.L1853L|UNC79_ENST00000256339.4_Silent_p.L1676L|UNC79_ENST00000555664.1_Silent_p.L1853L Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1853 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GAGAGTACCTCGACATCTCCT 0.458000 16 2 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50964862 50964862 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:50964862G>T ENST00000357701.5 + 25 3046 c.2995G>T c.(2995-2997)Ggc>Tgc p.G999C NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 999 Fibronectin type-III 3. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CCTTATCGTGGGCAATGAATA 0.547000 OREG0025636 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 19 8.12818e-05 8.51437e-05 1 1 0 TTBK2 146057 broad.mit.edu 37 15 43045158 43045158 + Silent SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:43045158A>G ENST00000267890.6 - 14 2394 c.2286T>C c.(2284-2286)caT>caC p.H762H NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 762 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CCAGTCTATTATGATCAGGAA 0.383000 117 60 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107403776 107403776 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chrX:107403776C>T ENST00000334504.7 - 43 4675 c.4442G>A c.(4441-4443)tGt>tAt p.C1481Y COL4A6_ENST00000538570.1_Missense_Mutation_p.C1424Y|COL4A6_ENST00000545689.1_Missense_Mutation_p.C1457Y|COL4A6_ENST00000394872.2_Missense_Mutation_p.C1482Y|COL4A6_ENST00000372216.4_Missense_Mutation_p.C1482Y NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1482 Collagen IV NC1. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CCCGATGGGACACGGGGGCAC 0.607000 Alport syndrome with Diffuse Leiomyomatosis 76 49 0 0 1 0 0 NFIX 4784 broad.mit.edu 37 19 13184720 13184720 + Splice_Site SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:13184720C>G ENST00000358552.3 + 4 695 c.695C>G c.(694-696)aCt>aGt p.T232S NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000587260.1_Splice_Site_p.T232S|NFIX_ENST00000592199.1_Splice_Site_p.T233S|NFIX_ENST00000397661.2_Splice_Site_p.T233S|NFIX_ENST00000585575.1_Splice_Site_p.T225S|NFIX_ENST00000588228.1_Splice_Site_p.T186S|NFIX_ENST00000587760.1_Splice_Site_p.T225S|NFIX_ENST00000360105.4_Splice_Site_p.T236S Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 233 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) TTCTTCCCAGCTCCTGTTGCA 0.587000 17 25 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74824840 74824840 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr14:74824840C>T ENST00000256362.4 + 2 1595 c.1354C>T c.(1354-1356)Ccg>Tcg p.P452S NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 452 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CAGCTTCAAGCCGGCACCAGC 0.592000 3 27 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140187477 140187477 + Silent SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr5:140187477C>A ENST00000530339.1 + 1 705 c.705C>A c.(703-705)gcC>gcA p.A235A PCDHA4_ENST00000512229.2_Silent_p.A235A|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.A235A NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACTGGATGCCAATGACAATG 0.428000 29 35 7.26314e-15 8.24224e-15 1 1 0 ZNF737 100129842 broad.mit.edu 37 19 20728550 20728550 + Silent SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:20728550G>C ENST00000427401.4 - 4 553 c.459C>G c.(457-459)gtC>gtG p.V153V NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 153 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 ATTTATGAATGACTTTCACAT 0.299000 17 27 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53544108 53544108 + Missense_Mutation SNP G G A rs78516010 byFrequency TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:53544108G>A ENST00000371500.3 + 10 1354 c.1013G>A c.(1012-1014)cGc>cAc p.R338H RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.R357H|PODN_ENST00000395871.2_Missense_Mutation_p.R215H NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 309 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGGCTGCCGCGCAGCCTGGTG 0.637000 3 37 0 0 1 0 0 STRADB 55437 broad.mit.edu 37 2 202342854 202342854 + Silent SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:202342854G>T ENST00000194530.3 + 9 1130 c.765G>T c.(763-765)ggG>ggT p.G255G STRADB_ENST00000392249.2_Silent_p.G255G NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 255 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 ACAGTGTTGGGATTACAGCAT 0.388000 22 41 1.42536e-11 1.58259e-11 1 1 0 ZIK1 284307 broad.mit.edu 37 19 58099952 58099952 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:58099952G>A ENST00000597850.1 + 3 333 c.118G>A c.(118-120)Gag>Aag p.E40K ZIK1_ENST00000536878.2_Missense_Mutation_p.E27K|ZIK1_ENST00000598726.1_3'UTR|ZIK1_ENST00000599456.1_5'UTR|ZIK1_ENST00000307468.4_Intron NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 40 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CTCACAGGACGAGTGGGGACT 0.517000 20 59 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98764523 98764523 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:98764523C>T ENST00000266058.4 - 33 3882 c.3637G>A c.(3637-3639)Gca>Aca p.A1213T ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.A1213T NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1213 Laminin G-like. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) AGCTCAACTGCAATGTGGTCG 0.597000 9 4 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54755921 54755921 + Missense_Mutation SNP G G T rs34889610 TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:54755921G>T ENST00000450632.1 - 12 1675 c.1598C>A c.(1597-1599)gCt>gAt p.A533D LILRB5_ENST00000449561.2_Missense_Mutation_p.A542D|LILRB5_ENST00000345866.6_Missense_Mutation_p.A442D|LILRB5_ENST00000316219.5_Missense_Mutation_p.A541D O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 541 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCTCACCCGAGCATCCATCTC 0.627000 32 93 3.67414e-24 4.32857e-24 1 1 0 HHATL 57467 broad.mit.edu 37 3 42740330 42740330 + Missense_Mutation SNP T T A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:42740330T>A ENST00000441594.1 - 5 614 c.353A>T c.(352-354)tAc>tTc p.Y118F HHATL_ENST00000310417.5_Missense_Mutation_p.Y118F NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 118 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) CAGCAGCAGGTACCAAGGGCC 0.612000 16 80 0 0 1 0 0 DPRX 503834 broad.mit.edu 37 19 54140182 54140182 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:54140182C>T ENST00000376650.1 + 3 567 c.516C>T c.(514-516)tgC>tgT p.C172C NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 172 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) CCCAAGTTTGCGCTCCAAGCT 0.443000 4 96 0 0 1 0 0 ESPN 83715 broad.mit.edu 37 1 6511676 6511676 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:6511676C>T ENST00000377828.1 + 9 2097 c.1929C>T c.(1927-1929)ttC>ttT p.F643F ESPN_ENST00000461727.1_Silent_p.F77F|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Silent_p.F77F NM_031475.2 NP_113663.2 B1AK53 ESPN_HUMAN espin 643 Pro-rich. sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) CCAAGTCTTTCAACATGATGT 0.637000 21 2 0 0 1 0 0 PMP22 5376 broad.mit.edu 37 17 15162449 15162449 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:15162449G>A ENST00000395938.2 - 3 334 c.140C>T c.(139-141)tCa>tTa p.S47L PMP22_ENST00000426385.3_Missense_Mutation_p.S47L|PMP22_ENST00000494511.1_Intron|PMP22_ENST00000395936.1_Missense_Mutation_p.S47L|PMP22_ENST00000312280.3_Missense_Mutation_p.S47L NM_001281455.1|NM_153321.1 NP_001268384.1|NP_696996.1 Q01453 PMP22_HUMAN peripheral myelin protein 22 47 peripheral nervous system development|synaptic transmission integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06) GACATTTCCTGAGGAAGAGGT 0.507000 13 29 0 0 1 0 0 DERL2 51009 broad.mit.edu 37 17 5383885 5383885 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:5383885C>T ENST00000158771.4 - 5 400 c.345G>A c.(343-345)gtG>gtA p.V115V DERL2_ENST00000572834.1_Intron|DERL2_ENST00000570848.1_Intron NM_016041.3 NP_057125.2 Q9GZP9 DERL2_HUMAN derlin 2 115 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane protein binding large_intestine(3) 3 AAACTAAGCTCACAAACAGAC 0.413000 50 5 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75406786 75406786 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:75406786G>A ENST00000394810.2 - 4 2773 c.2624C>T c.(2623-2625)gCc>gTc p.A875V SYNPO2L_ENST00000372873.4_Missense_Mutation_p.A651V NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 875 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) GGACCCTGAGGCGATAGGGCC 0.577000 31 48 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30740697 30740697 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:30740697C>T ENST00000262518.4 + 27 6316 c.5931C>T c.(5929-5931)atC>atT p.I1977I SRCAP_ENST00000344771.4_Silent_p.I1819I|SRCAP_ENST00000395059.2_Silent_p.I1915I NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1977 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) ACAGGTTCATCTTTGTCATGC 0.557000 19 9 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14471541 14471541 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr5:14471541G>C ENST00000344204.4 + 38 5902 c.5878G>C c.(5878-5880)Gaa>Caa p.E1960Q TRIO_ENST00000537187.1_Missense_Mutation_p.E1960Q NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1960 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) TGATGAGATGGAAGAAAGGAA 0.453000 45 26 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79073861 79073861 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:79073861C>G ENST00000321300.6 + 7 716 c.623C>G c.(622-624)tCc>tGc p.S208C BAIAP2_ENST00000416299.2_Missense_Mutation_p.S71C|BAIAP2_ENST00000321280.7_Missense_Mutation_p.S208C|BAIAP2_ENST00000575712.1_Missense_Mutation_p.S208C|BAIAP2_ENST00000428708.2_Missense_Mutation_p.S208C|BAIAP2_ENST00000392411.3_Missense_Mutation_p.S130C|BAIAP2_ENST00000575245.1_Missense_Mutation_p.S241C|BAIAP2_ENST00000435091.3_Missense_Mutation_p.S208C NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 208 IMD. axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GCCAAGAACTCCGCGGCCTAC 0.672000 45 38 0 0 1 0 0 PNPLA8 50640 broad.mit.edu 37 7 108112949 108112949 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:108112949C>T ENST00000426128.2 - 10 2184 c.2059G>A c.(2059-2061)Gca>Aca p.A687T PNPLA8_ENST00000436062.1_Missense_Mutation_p.A749T|PNPLA8_ENST00000453144.1_Missense_Mutation_p.A649T|PNPLA8_ENST00000257694.8_Missense_Mutation_p.A749T|PNPLA8_ENST00000422087.1_Missense_Mutation_p.A749T|PNPLA8_ENST00000388728.5_Missense_Mutation_p.A687T NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 749 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 AATATTTTTGCAACTTTTTTC 0.289000 9 41 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12304312 12304312 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:12304312G>A ENST00000358136.3 + 4 315 c.185G>A c.(184-186)gGg>gAg p.G62E VPS13D_ENST00000356315.4_Missense_Mutation_p.G62E NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 62 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGCTTCATTGGGAAAGTAACC 0.413000 50 7 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:37868208C>T ENST00000406381.2 + 10 1349 c.839C>T c.(838-840)tCc>tTc p.S280F ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 310 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(6)|p.S310Y(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 83 18 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61834866 61834866 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:61834866C>G ENST00000280772.2 - 37 5964 c.5773G>C c.(5773-5775)Gag>Cag p.E1925Q ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGCTTCTCCTCAGGCACATCT 0.408000 16 20 0 0 1 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44506687 44506687 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr20:44506687C>G ENST00000255152.2 + 2 1699 c.1490C>G c.(1489-1491)aCc>aGc p.T497S ZSWIM3_ENST00000454862.2_Missense_Mutation_p.T491S NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 497 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) ATGCTGGACACCTTGCACCAG 0.582000 6 25 0 0 1 0 0 DPRX 503834 broad.mit.edu 37 19 54139998 54139998 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:54139998C>T ENST00000376650.1 + 3 383 c.332C>T c.(331-333)cCc>cTc p.P111L NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 111 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) CCCAGATTGCCCAACGCTGCT 0.542000 39 20 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67688278 67688278 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:67688278C>G ENST00000334583.6 + 31 3593 c.3265C>G c.(3265-3267)Cct>Gct p.P1089A RLTPR_ENST00000545661.1_Missense_Mutation_p.P1053A NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 1089 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GGGCGCCACTCCTGTCCCCCG 0.652000 7 2 0 0 1 0 0 FAM196A 642938 broad.mit.edu 37 10 128974213 128974213 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:128974213C>G ENST00000522781.1 - 4 1002 c.447G>C c.(445-447)gaG>gaC p.E149D DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.E149D NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 149 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 CCTCGTTCTTCTCTTTCGCAT 0.542000 24 42 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94881113 94881113 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:94881113G>C ENST00000289495.5 + 9 2586 c.2370G>C c.(2368-2370)aaG>aaC p.K790N PPP1R9A_ENST00000433360.1_Missense_Mutation_p.K812N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.K790N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.K790N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.K790N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.K790N NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 790 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CAGAAAGAAAGAAAATAGAAG 0.338000 HNSCC(28;0.073) 12 39 0 0 1 0 0 EGR4 1961 broad.mit.edu 37 2 73519828 73519828 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:73519828G>A ENST00000436467.2 - 2 605 c.218C>T c.(217-219)gCg>gTg p.A73V EGR4_ENST00000545030.1_Missense_Mutation_p.A176V B7ZKU3 B7ZKU3_HUMAN early growth response 4 72 intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GGGTGTGGGCGCAGGCCCCTC 0.632000 6 2 0 0 1 0 0 OCRL 4952 broad.mit.edu 37 X 128721031 128721031 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chrX:128721031C>T ENST00000371113.4 + 20 2357 c.2192C>T c.(2191-2193)cCc>cTc p.P731L OCRL_ENST00000357121.5_Missense_Mutation_p.P723L NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 731 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 AGTGAGAGACCCCTTCAGGTT 0.448000 4 256 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73933956 73933956 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:73933956C>G ENST00000476977.1 + 6 2514 c.823C>G c.(823-825)Cct>Gct p.P275A GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.P275A|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.P307A|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.P275A Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 275 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GCAGGAAGCACCTTCCTGCCC 0.657000 16 3 0 0 1 0 0 AGFG2 3268 broad.mit.edu 37 7 100151733 100151733 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:100151733C>T ENST00000300176.4 + 5 725 c.603C>T c.(601-603)caC>caT p.H201H AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 201 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTCAGTCTCACGCTCGGACAT 0.602000 7 23 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17696605 17696605 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:17696605G>A ENST00000353383.1 + 3 812 c.343G>A c.(343-345)Gag>Aag p.E115K RAI1_ENST00000261641.6_Missense_Mutation_p.E115K NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 115 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CTATGCTGGTGAGGAGAGCCT 0.647000 9 8 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37368843 37368843 + Missense_Mutation SNP A A C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:37368843A>C ENST00000361924.2 + 14 5840 c.5466A>C c.(5464-5466)aaA>aaC p.K1822N GOLGA4_ENST00000356847.4_Missense_Mutation_p.K1844N|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1822 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AAGGAGGTAAAAATAACATAC 0.383000 34 67 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3632546 3632546 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:3632546G>C ENST00000294008.3 - 15 5942 c.5302C>G c.(5302-5304)Cag>Gag p.Q1768E RP11-461A8.1_ENST00000573982.1_lincRNA NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1768 Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 AGCACCTTCTGGTACAGGGCC 0.672000 Direct reversal of damage 14 32 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120650703 120650703 + Missense_Mutation SNP A A T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:120650703A>T ENST00000427067.2 - 2 266 c.86T>A c.(85-87)aTt>aAt p.I29N ENPP2_ENST00000075322.6_Missense_Mutation_p.I33N|ENPP2_ENST00000522826.1_Missense_Mutation_p.I33N|ENPP2_ENST00000259486.6_Missense_Mutation_p.I33N Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 33 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGCTCTCTTAATTCGATGTGC 0.368000 21 84 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220503588 220503588 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:220503588C>G ENST00000358055.3 + 19 3532 c.3020C>G c.(3019-3021)aCg>aGg p.T1007R SLC4A3_ENST00000273063.6_Missense_Mutation_p.T1034R|SLC4A3_ENST00000373762.3_Missense_Mutation_p.T1034R|SLC4A3_ENST00000373760.2_Missense_Mutation_p.T1007R|SLC4A3_ENST00000317151.3_Missense_Mutation_p.T1007R P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 1007 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACACAGATCACGGCGTGAGAG 0.597000 3 6 0 0 1 0 0 EGR4 1961 broad.mit.edu 37 2 73518705 73518705 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:73518705G>T ENST00000436467.2 - 2 1728 c.1341C>A c.(1339-1341)ttC>ttA p.F447L EGR4_ENST00000545030.1_Missense_Mutation_p.F550L B7ZKU3 B7ZKU3_HUMAN early growth response 4 446 intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CGCTGCGCGCGAAGCGGCGGC 0.667000 20 13 1.2644e-06 1.3427e-06 1 1 0 PALB2 79728 broad.mit.edu 37 16 23647174 23647174 + Missense_Mutation SNP T T A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:23647174T>A ENST00000261584.4 - 4 845 c.693A>T c.(691-693)aaA>aaT p.K231N NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 231 Interaction with BRCA1. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TATCAACACCTTTTTCTGGTT 0.398000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 58 132 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56484601 56484601 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr6:56484601C>G ENST00000370765.6 - 23 4338 c.4231G>C c.(4231-4233)Gat>Cat p.D1411H DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 5072 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTTGTTTCATCTAGTTTATCT 0.428000 28 93 0 0 1 0 0 COA5 493753 broad.mit.edu 37 2 99224806 99224806 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:99224806C>T ENST00000328709.3 - 1 149 c.63G>A c.(61-63)ctG>ctA p.L21L COA5_ENST00000409997.1_Silent_p.L21L|COA5_ENST00000483527.1_5'UTR NM_001008215.2 NP_001008216.1 Q86WW8 COA5_HUMAN cytochrome c oxidase assembly factor 5 21 GACACGCGCCCAGGTCCTCCT 0.697000 6 5 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125107171 125107171 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:125107171C>T ENST00000522917.1 + 35 4793 c.4587C>T c.(4585-4587)ctC>ctT p.L1529L FER1L6_ENST00000399018.1_Silent_p.L1529L|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1529 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ACCTGGCCCTCAAGGTTTTAC 0.502000 36 80 0 0 1 0 0 TSPAN14 81619 broad.mit.edu 37 10 82276014 82276014 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:82276014G>C ENST00000429989.3 + 8 899 c.676G>C c.(676-678)Gaa>Caa p.E226Q TSPAN14_ENST00000341863.6_Missense_Mutation_p.E169Q|TSPAN14_ENST00000372156.1_Missense_Mutation_p.E226Q|TSPAN14_ENST00000265450.5_3'UTR|TSPAN14_ENST00000372164.3_Missense_Mutation_p.E209Q|TSPAN14_ENST00000372158.1_Missense_Mutation_p.E226Q|TSPAN14_ENST00000481124.1_Missense_Mutation_p.E103Q NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) CCAGGCGCTGGAAAGCTGGCT 0.567000 19 32 0 0 1 0 0 TPRN 286262 broad.mit.edu 37 9 140086970 140086970 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:140086970G>A ENST00000409012.4 - 2 1985 c.1899C>T c.(1897-1899)ttC>ttT p.F633F TPRN_ENST00000321773.2_Silent_p.F572F NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 633 sensory perception of sound stereocilium breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 CCCGGGGCAGGAAGAGTGCAA 0.642000 8 3 0 0 1 0 0 LENG8 114823 broad.mit.edu 37 19 54965839 54965839 + Silent SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:54965839A>G ENST00000326764.5 + 6 1136 c.657A>G c.(655-657)caA>caG p.Q219Q LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 182 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) AGAAGGGCCAACAGCTGTGGA 0.652000 3 6 0 0 1 0 0 C11orf63 79864 broad.mit.edu 37 11 122817458 122817458 + Silent SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr11:122817458A>G ENST00000227349.2 + 6 2184 c.1887A>G c.(1885-1887)caA>caG p.Q629Q C11orf63_ENST00000531316.1_Silent_p.Q629Q NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 629 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) ATCTGTTTCAACTGGAAAAGG 0.388000 32 95 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73680906 73680906 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:73680906G>A ENST00000264448.6 + 8 7360 c.7249G>A c.(7249-7251)Gat>Aat p.D2417N ALMS1_ENST00000377715.1_Missense_Mutation_p.D2417N|ALMS1_ENST00000409009.1_Missense_Mutation_p.D2375N NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2417 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TTCAAGTAGTGATGCCAGTGA 0.383000 32 74 0 0 1 0 0 ASPHD1 253982 broad.mit.edu 37 16 29912852 29912852 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr16:29912852C>A ENST00000308748.5 + 1 812 c.560C>A c.(559-561)cCa>cAa p.P187Q ASPHD1_ENST00000483405.1_Intron NM_181718.3 NP_859069.2 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 187 Gly-rich. peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 ATTCAGCGCCCAGGCCTGCTT 0.672000 28 75 1.5548e-18 1.78628e-18 1 1 0 ASXL2 55252 broad.mit.edu 37 2 25966085 25966085 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:25966085C>A ENST00000435504.4 - 13 3414 c.3121G>T c.(3121-3123)Gct>Tct p.A1041S ASXL2_ENST00000336112.4_Missense_Mutation_p.A1013S|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 1041 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCTCCTTAGCTGAAAAGAGC 0.512000 28 15 2.44723e-14 2.75686e-14 1 1 0 ANAPC4 29945 broad.mit.edu 37 4 25415982 25415982 + Missense_Mutation SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr4:25415982A>G ENST00000315368.3 + 23 1802 c.1660A>G c.(1660-1662)Att>Gtt p.I554V ANAPC4_ENST00000510092.1_Missense_Mutation_p.I555V NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 554 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) AGCAATCTGTATTCCATTGTA 0.294000 35 5 0 0 1 0 0 SUGP1 57794 broad.mit.edu 37 19 19387801 19387801 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:19387801G>A ENST00000247001.5 - 13 2213 c.1866C>T c.(1864-1866)ttC>ttT p.F622F NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 622 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 TCCTCTTGCGGAACGCCTCAT 0.642000 15 13 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9086905 9086905 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:9086905C>A ENST00000397910.4 - 1 5113 c.4910G>T c.(4909-4911)gGg>gTg p.G1637V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1637 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTACTGCTCCCTGTTGTTGT 0.498000 33 106 9.78485e-24 1.14984e-23 1 1 0 SKIV2L2 23517 broad.mit.edu 37 5 54624598 54624598 + Silent SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr5:54624598A>G ENST00000230640.5 + 5 728 c.474A>G c.(472-474)ctA>ctG p.L158L SKIV2L2_ENST00000545714.1_Silent_p.L57L NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 158 Helicase ATP-binding. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) AGTCTGTTCTAGTATCTGCAC 0.358000 30 70 0 0 1 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123477480 123477480 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr11:123477480G>A ENST00000529750.1 + 10 1385 c.1058G>A c.(1057-1059)aGt>aAt p.S353N GRAMD1B_ENST00000322282.7_Missense_Mutation_p.S353N|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.S360N NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 353 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) ACTGAGCTCAGTGACTCTTCC 0.498000 34 10 0 0 1 0 0 RNMTL1 55178 broad.mit.edu 37 17 691331 691331 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:691331C>A ENST00000304478.4 + 3 792 c.686C>A c.(685-687)tCt>tAt p.S229Y NM_018146.2 NP_060616.1 Q9HC36 RMTL1_HUMAN RNA methyltransferase like 1 229 RNA processing protein binding|RNA binding|RNA methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0219) ATTCTGAGATCTGCAGCTGGG 0.493000 31 38 3.80469e-20 4.44842e-20 1 1 0 SLC22A7 10864 broad.mit.edu 37 6 43270081 43270081 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr6:43270081G>A ENST00000372585.5 + 8 1300 c.1205G>A c.(1204-1206)cGc>cAc p.R402H SLC22A7_ENST00000372589.3_Missense_Mutation_p.R400H|SLC22A7_ENST00000372574.3_Missense_Mutation_p.R400H NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 402 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) TACGCAGGACGCCGCCTCACG 0.642000 17 4 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115805027 115805027 + Nonsense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:115805027G>C ENST00000374227.3 - 4 1898 c.1871C>G c.(1870-1872)tCa>tGa p.S624* ZFP37_ENST00000553380.1_Nonsense_Mutation_p.S639*|ZFP37_ENST00000555206.1_Nonsense_Mutation_p.S625* NM_001282515.1|NM_001282518.1 NP_001269444.1|NP_001269447.1 Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 624 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 TTTATCTTCTGAATGAGTTTT 0.338000 35 8 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117728213 117728213 + Nonsense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:117728213G>A ENST00000317775.6 - 4 1556 c.871C>T c.(871-873)Cag>Tag p.Q291* NOS1_ENST00000338101.4_Nonsense_Mutation_p.Q291*|NOS1_ENST00000344089.3_Silent_p.N309N NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 291 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GTGGGGGACTGTTTTCCTGAG 0.557000 15 38 0 0 1 0 0 TNFSF10 8743 broad.mit.edu 37 3 172224383 172224383 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:172224383C>T ENST00000241261.2 - 5 867 c.745G>A c.(745-747)Gag>Aag p.E249K TNFSF10_ENST00000420541.2_3'UTR NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 249 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TCCTTAAGCTCAAATATTCCC 0.363000 26 99 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43242385 43242385 + Silent SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr21:43242385C>A ENST00000422911.1 - 16 2042 c.1941G>T c.(1939-1941)gcG>gcT p.A647A PRDM15_ENST00000269844.3_Silent_p.A956A|PRDM15_ENST00000538201.1_Silent_p.A610A|PRDM15_ENST00000447207.2_Silent_p.A590A|PRDM15_ENST00000398548.1_Silent_p.A627A NM_001282934.1 NP_001269863.1 P57071 PRD15_HUMAN PR domain containing 15 956 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 CATCCATCAACGCGATGTCCT 0.532000 18 61 8.00594e-06 8.4629e-06 1 1 0 NPL 80896 broad.mit.edu 37 1 182787771 182787771 + Missense_Mutation SNP T T G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:182787771T>G ENST00000367554.3 + 7 814 c.496T>G c.(496-498)Tgt>Ggt p.C166G NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367552.2_Missense_Mutation_p.C185G|NPL_ENST00000367553.1_Missense_Mutation_p.C185G|NPL_ENST00000258317.2_Missense_Mutation_p.C185G|NPL_ENST00000367555.1_Missense_Mutation_p.C185G NM_001200050.1 NP_001186979.1 Q9BXD5 NPL_HUMAN N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) 185 carbohydrate metabolic process cytoplasm N-acetylneuraminate lyase activity breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1) 15 CTTCGGGCAATGTGTTGATCA 0.488000 16 51 0 0 1 0 0 DYRK1A 1859 broad.mit.edu 37 21 38877827 38877827 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr21:38877827C>G ENST00000339659.4 + 9 2924 c.1454C>G c.(1453-1455)tCt>tGt p.S485C DYRK1A_ENST00000451934.1_Missense_Mutation_p.S494C|DYRK1A_ENST00000321219.8_Missense_Mutation_p.S494C|DYRK1A_ENST00000338785.3_Missense_Mutation_p.S494C|DYRK1A_ENST00000398956.2_Missense_Mutation_p.S494C|DYRK1A_ENST00000455387.2_Missense_Mutation_p.S266C|DYRK1A_ENST00000398960.2_Missense_Mutation_p.S494C NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AATAGTGTATCTACAAGCCCC 0.463000 22 74 0 0 1 0 0 TMEM203 94107 broad.mit.edu 37 9 140099778 140099778 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:140099778G>A ENST00000343666.5 - 1 312 c.89C>T c.(88-90)tCt>tTt p.S30F TMEM203_ENST00000537254.1_Missense_Mutation_p.S30F NM_053045.1 NP_444273.1 Q969S6 TM203_HUMAN transmembrane protein 203 30 integral to membrane central_nervous_system(1)|kidney(1) 2 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CAGCAGCACAGAGAACACCAA 0.632000 8 5 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37634915 37634915 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr20:37634915G>A ENST00000252011.3 + 12 1171 c.1138G>A c.(1138-1140)Gtg>Atg p.V380M DHX35_ENST00000373325.2_Missense_Mutation_p.V380M|DHX35_ENST00000373323.4_Missense_Mutation_p.V349M NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 380 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) CTTGGTGGTGGTGCCAGTCTC 0.507000 58 142 0 0 1 0 0 ATP1A1 476 broad.mit.edu 37 1 116927435 116927435 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:116927435C>A ENST00000537345.1 + 3 517 c.154C>A c.(154-156)Cat>Aat p.H52N ATP1A1_ENST00000369496.4_Missense_Mutation_p.H21N|ATP1A1_ENST00000295598.5_Missense_Mutation_p.H52N NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 52 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) TGATGAACTTCATCGTAAATA 0.318000 39 66 2.52991e-16 2.89937e-16 1 1 0 SOWAHB 345079 broad.mit.edu 37 4 77817777 77817777 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr4:77817777C>G ENST00000334306.2 - 1 1225 c.1226G>C c.(1225-1227)aGc>aCc p.S409T NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 409 GGGCCCACTGCTGCTCTCCTC 0.572000 16 25 0 0 1 0 0 TRBV7-1 28597 broad.mit.edu 37 7 142032448 142032448 + RNA SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:142032448G>A ENST00000547918.2 + 0 301 ACAGAGGTCTGAGGGATCCAT 0.577000 13 20 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44922688 44922688 + Nonsense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chrX:44922688C>T ENST00000377967.4 + 16 1590 c.1549C>T c.(1549-1551)Cag>Tag p.Q517* KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q524*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q472*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q438* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 517 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 AGGAGTTGCACAGGTACGATC 0.448000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 55 72 0 0 1 0 0 TEAD4 7004 broad.mit.edu 37 12 3104097 3104097 + Silent SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:3104097C>A ENST00000359864.2 + 3 355 c.165C>A c.(163-165)ctC>ctA p.L55L TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Silent_p.L55L NM_003213.3 NP_003204 Q15561 TEAD4_HUMAN TEA domain family member 4 55 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) AGGAGGCCCTCGCCATCTACC 0.622000 22 131 1.96895e-08 2.12499e-08 1 1 0 APOB 338 broad.mit.edu 37 2 21229014 21229014 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:21229014G>T ENST00000233242.1 - 26 10853 c.10726C>A c.(10726-10728)Ctc>Atc p.L3576I NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 3576 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTGAAAAAGAGGCCCTCTAGC 0.473000 58 10 3.37043e-27 3.98089e-27 1 1 0 LOC101927958 101927958 broad.mit.edu 37 2 239141693 239141693 + RNA SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:239141693A>G ENST00000456601.1 + 0 906 ATACATATGTACTAAGAATTT 0.313000 10 1 0 0 1 0 0 ALKBH5 54890 broad.mit.edu 37 17 18111582 18111582 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:18111582C>G ENST00000399138.4 + 4 1062 c.1057C>G c.(1057-1059)Ctg>Gtg p.L353V ALKBH5_ENST00000541285.1_Missense_Mutation_p.L12V NM_017758.3 NP_060228.3 Q6P6C2 ALKB5_HUMAN alkB, alkylation repair homolog 5 (E. coli) 353 integral to membrane metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1) 10 all_neural(463;0.228) CTCGGTGCTGCTGCCCACACA 0.622000 16 57 0 0 1 0 0 CPLX3 594855 broad.mit.edu 37 15 75119126 75119126 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:75119126G>A ENST00000395018.4 + 1 239 c.82G>A c.(82-84)Gat>Aat p.D28N RP11-414J4.2_ENST00000564823.1_RNA NM_001030005.2 NP_001025176.1 Q8WVH0 CPLX3_HUMAN complexin 3 28 cell junction|synapse syntaxin binding large_intestine(2)|lung(2) 4 GGATAAGGGAGATGGGGACAA 0.622000 13 7 0 0 1 0 0 CSTF3 1479 broad.mit.edu 37 11 33127546 33127546 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr11:33127546G>T ENST00000323959.4 - 6 560 c.421C>A c.(421-423)Cag>Aag p.Q141K CSTF3_ENST00000524827.1_Missense_Mutation_p.Q173K NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 141 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 AACTCTACCTGATAGGACATA 0.289000 12 4 5.50884e-06 5.83659e-06 1 1 0 C2orf78 388960 broad.mit.edu 37 2 74043982 74043982 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:74043982G>A ENST00000409561.1 + 3 2753 c.2632G>A c.(2632-2634)Gag>Aag p.E878K NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 878 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 GCAGAGGCCAGAGCGTGAGGC 0.493000 17 18 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058288 11058288 + RNA SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr21:11058288G>A ENST00000470054.1 - 0 359 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CACAGCATTTGATAGTGGCTC 0.403000 7 230 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740460 37740460 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:37740460G>A ENST00000539465.1 + 15 2528 c.1935G>A c.(1933-1935)gaG>gaA p.E645E FRMPD1_ENST00000377765.3_Silent_p.E645E|FRMPD1_ENST00000541302.1_Silent_p.E514E|FRMPD1_ENST00000536622.1_Silent_p.E467E|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 645 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) ACAGCCAGGAGGAGAGAAGCG 0.577000 8 45 0 0 1 0 0 FXYD6 53826 broad.mit.edu 37 11 117710495 117710495 + Splice_Site SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr11:117710495C>A ENST00000526014.1 - 7 905 c.e7+1 FXYD6_ENST00000540359.1_Splice_Site|FXYD6_ENST00000260282.4_Splice_Site|FXYD6_ENST00000527429.1_3'UTR|FXYD6_ENST00000530956.1_3'UTR|FXYD6-FXYD2_ENST00000532984.1_Splice_Site|FXYD6_ENST00000584394.1_Splice_Site|FXYD6_ENST00000583233.1_Splice_Site|FXYD6_ENST00000529335.2_Splice_Site|FXYD6_ENST00000527717.1_Splice_Site|FXYD6_ENST00000524656.1_Splice_Site|FXYD6_ENST00000539526.1_Splice_Site NM_022003.3 NP_071286.1 FXYD domain containing ion transport regulator 6 central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1) 8 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122) GAGCATCTCACCTTCCACCTG 0.547000 25 73 1.68575e-08 1.82361e-08 1 1 0 NOS1 4842 broad.mit.edu 37 12 117662863 117662863 + Nonsense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:117662863G>A ENST00000317775.6 - 25 4469 c.3784C>T c.(3784-3786)Cga>Tga p.R1262* NOS1_ENST00000338101.4_Nonsense_Mutation_p.R1296*|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1262 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.R1262*(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CAGAAGCTTCGGAAAGGGGCA 0.617000 30 89 0 0 1 0 0 SART3 9733 broad.mit.edu 37 12 108917337 108917337 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:108917337G>C ENST00000228284.3 - 19 3023 c.2789C>G c.(2788-2790)gCt>gGt p.A930G SART3_ENST00000431469.2_Missense_Mutation_p.A894G NM_014706.3 NP_055521.1 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T cells 3 930 RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 GCCGTTCTCAGCCTGAGGAGC 0.607000 Porokeratosis 52 10 0 0 1 0 0 FLVCR2 55640 broad.mit.edu 37 14 76045641 76045641 + Missense_Mutation SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr14:76045641A>G ENST00000238667.4 + 1 682 c.326A>G c.(325-327)aAt>aGt p.N109S AC007182.6_ENST00000455232.1_RNA NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 109 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) GGCTCCATCAATAACATCTTC 0.537000 20 14 0 0 1 0 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 98989613 98989613 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:98989613G>T ENST00000453547.2 - 10 1302 c.1303C>A c.(1303-1305)Cag>Aag p.Q435K ARHGAP19_ENST00000358531.4_Missense_Mutation_p.Q435K|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.Q426K|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.Q435K|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.Q426K|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.Q406K|ARHGAP19_ENST00000487035.1_5'UTR GACATCATCTGATTTCCCAGG 0.383000 21 14 1.50039e-11 1.66192e-11 1 1 0 ZBTB17 7709 broad.mit.edu 37 1 16270340 16270340 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:16270340G>A ENST00000375733.2 - 10 1660 c.1422C>T c.(1420-1422)ctC>ctT p.L474L ZBTB17_ENST00000375743.4_Silent_p.L474L|ZBTB17_ENST00000537142.1_Silent_p.L392L|ZBTB17_ENST00000448462.2_3'UTR Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 474 negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2) 15 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) CTCGGCACTTGAGGGGCCCGT 0.692000 5 15 0 0 1 0 0 NKX2-3 159296 broad.mit.edu 37 10 101294755 101294755 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:101294755G>A ENST00000344586.7 + 2 571 c.372G>A c.(370-372)ctG>ctA p.L124L NM_145285.2 NP_660328.2 Q8TAU0 NKX23_HUMAN NK2 homeobox 3 124 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 5 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.45e-08) GCTGCCAGCTGAAGAAGTCTC 0.642000 5 0 0 0 1 0 0 C3AR1 719 broad.mit.edu 37 12 8211912 8211912 + Silent SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:8211912G>C ENST00000307637.4 - 2 1073 c.870C>G c.(868-870)ctC>ctG p.L290L NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 290 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) AATGAGTAGAGAGAAAAGCAT 0.423000 47 7 0 0 1 0 0 TIPARP 25976 broad.mit.edu 37 3 156396354 156396354 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:156396354G>A ENST00000461166.1 + 2 1456 c.868G>A c.(868-870)Gaa>Aaa p.E290K TIPARP_ENST00000295924.7_Missense_Mutation_p.E290K|TIPARP_ENST00000486483.1_Missense_Mutation_p.E290K|TIPARP_ENST00000542783.1_Missense_Mutation_p.E290K NM_001184717.1 NP_001171646.1 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 290 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding p.E290K(1) NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GGAGCACTTGGAAAGATTTTA 0.363000 40 22 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 996418 996418 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:996418G>C ENST00000537687.1 + 20 6735 c.6092G>C c.(6091-6093)gGt>gCt p.G2031A WNK1_ENST00000535572.1_Missense_Mutation_p.G1524A|WNK1_ENST00000340908.4_Missense_Mutation_p.G1364A|WNK1_ENST00000315939.6_Missense_Mutation_p.G1771A|WNK1_ENST00000530271.2_Missense_Mutation_p.G2269A NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1771 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CTTCCAGCAGGTACTCTACCC 0.483000 46 12 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105361888 105361888 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:105361888C>T ENST00000369774.4 - 15 3363 c.3087G>A c.(3085-3087)aaG>aaA p.K1029K SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.K864K|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.K1001K|SH3PXD2A_ENST00000540321.1_Silent_p.K896K Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 1029 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) CCAGGCGGCCCTTGGCCTCGG 0.687000 17 37 0 0 1 0 0 NUDT13 25961 broad.mit.edu 37 10 74886448 74886448 + Missense_Mutation SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:74886448A>G ENST00000357321.4 + 8 839 c.721A>G c.(721-723)Acc>Gcc p.T241A NUDT13_ENST00000372997.3_Silent_p.R203R|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000349051.5_Intron|NUDT13_ENST00000544879.1_Missense_Mutation_p.T115A|NUDT13_ENST00000537969.1_Missense_Mutation_p.T44A NM_001283016.1|NM_015901.4 NP_001269945.1|NP_056985.3 Q86X67 NUD13_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 13 241 Nudix hydrolase. hydrolase activity|metal ion binding large_intestine(2)|lung(5) 7 Prostate(51;0.0119) TGTGGAAGAGACCATCCGCCG 0.507000 26 33 0 0 1 0 0 GNB2 2783 broad.mit.edu 37 7 100276080 100276080 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:100276080C>T ENST00000303210.4 + 9 1241 c.759C>T c.(757-759)ttC>ttT p.F253F GNB2_ENST00000427895.1_Silent_p.F153F|GNB2_ENST00000436220.1_Silent_p.F209F|GNB2_ENST00000419828.1_Silent_p.F153F|GNB2_ENST00000424361.1_Silent_p.F209F|GNB2_ENST00000393926.1_Silent_p.F253F|GNB2_ENST00000393924.1_Silent_p.F253F NM_005273.3 NP_005264.2 P62879 GBB2_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2 253 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission perinuclear region of cytoplasm|plasma membrane GTPase activity|GTPase binding|signal transducer activity endometrium(1)|lung(3)|ovary(2)|prostate(1) 7 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) Ovarian(593;0.238) GCCGCCTCTTCGACCTGCGGG 0.632000 14 21 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 67976690 67976690 + Silent SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:67976690A>G ENST00000262210.5 + 1 88 c.57A>G c.(55-57)ctA>ctG p.L19L COPS5_ENST00000519963.1_Intron|CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000517736.1_5'UTR NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 19 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) ACGATCCTCTAGAGCACTGTG 0.692000 OREG0018811 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 15 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88726689 88726689 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr15:88726689G>C ENST00000394480.2 - 5 676 c.355C>G c.(355-357)Cag>Gag p.Q119E NTRK3_ENST00000317501.3_Missense_Mutation_p.Q119E|NTRK3_ENST00000540489.2_Missense_Mutation_p.Q119E|NTRK3_ENST00000557856.1_Missense_Mutation_p.Q119E|NTRK3_ENST00000360948.2_Missense_Mutation_p.Q119E|NTRK3_ENST00000542733.2_Missense_Mutation_p.Q21E|NTRK3_ENST00000357724.2_Missense_Mutation_p.Q119E|NTRK3_ENST00000355254.2_Missense_Mutation_p.Q119E|NTRK3_ENST00000558676.1_Missense_Mutation_p.Q119E NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GCTCTGGGCTGAATGCTCCGA 0.537000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 66 12 0 0 1 0 0 TOM1L2 146691 broad.mit.edu 37 17 17786071 17786071 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:17786071G>A ENST00000581396.1 - 5 554 c.458C>T c.(457-459)cCg>cTg p.P153L TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000318094.10_Missense_Mutation_p.P158L|TOM1L2_ENST00000379504.3_Missense_Mutation_p.P203L|TOM1L2_ENST00000395739.4_Missense_Mutation_p.P158L|TOM1L2_ENST00000535933.1_Intron NM_001033551.2 NP_001028723.1 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 (chicken) 203 intracellular protein transport intracellular endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2) 10 all_neural(463;0.228) TGGGGCCTGCGGTGCGGAGTA 0.582000 18 49 0 0 1 0 0 UBE2L6 9246 broad.mit.edu 37 11 57322055 57322055 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr11:57322055G>A ENST00000287156.4 - 3 360 c.165C>T c.(163-165)atC>atT p.I55I UBE2L6_ENST00000340573.4_5'UTR NM_004223.4 NP_004214.1 O14933 UB2L6_HUMAN ubiquitin-conjugating enzyme E2L 6 55 negative regulation of type I interferon production cytosol protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(3)|ovary(1) 5 GCGGGAAGCTGATGCGCAGGT 0.547000 45 8 0 0 1 0 0 DRAM2 128338 broad.mit.edu 37 1 111663143 111663143 + Missense_Mutation SNP A A T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:111663143A>T ENST00000286692.4 - 6 1129 c.512T>A c.(511-513)cTt>cAt p.L171H DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Missense_Mutation_p.L171H Q6UX65 DRAM2_HUMAN DNA-damage regulated autophagy modulator 2 171 apoptosis|induction of apoptosis Golgi apparatus|integral to membrane|lysosomal membrane endometrium(1)|large_intestine(5)|lung(3) 9 GATACTGCTAAGTGCACTTAC 0.408000 11 17 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140076208 140076208 + Missense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:140076208C>G ENST00000323927.2 - 7 1397 c.1393G>C c.(1393-1395)Gag>Cag p.E465Q NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 465 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) TGGCCTGTCTCCAGGCTCGCC 0.652000 17 14 0 0 1 0 0 TYK2 7297 broad.mit.edu 37 19 10476224 10476224 + Nonsense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:10476224C>T ENST00000525621.1 - 7 1461 c.980G>A c.(979-981)tGg>tAg p.W327* TYK2_ENST00000264818.6_Nonsense_Mutation_p.W327*|TYK2_ENST00000529370.1_Nonsense_Mutation_p.W327*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.W142* NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 327 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CTCTACTGGCCACCACTGGAT 0.652000 13 60 0 0 1 0 0 IFI44 10561 broad.mit.edu 37 1 79128500 79128500 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:79128500G>A ENST00000370747.4 + 8 1310 c.1225G>A c.(1225-1227)Gct>Act p.A409T IFI44_ENST00000495254.1_3'UTR NM_006417.4 NP_006408.3 Q8TCB0 IFI44_HUMAN interferon-induced protein 44 409 response to virus cytoplasm central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 AATTCTTTCTGCTCTGAGACG 0.453000 42 39 0 0 1 0 0 LMO2 4005 broad.mit.edu 37 11 33886238 33886238 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr11:33886238C>A ENST00000257818.2 - 5 1203 c.374G>T c.(373-375)aGc>aTc p.S125I LMO2_ENST00000395833.3_Missense_Mutation_p.S56I NM_005574.3 NP_005565.2 P25791 RBTN2_HUMAN LIM domain only 2 (rhombotin-like 1) 56 LIM zinc-binding 2. multicellular organismal development nucleus protein binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1) 14 GAGGTCGCAGCTCAGGCAGTC 0.642000 T TRD@ T-ALL 13 5 2.27111e-07 2.43408e-07 1 1 0 SNX2 6643 broad.mit.edu 37 5 122163324 122163324 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr5:122163324G>A ENST00000379516.2 + 14 1600 c.1492G>A c.(1492-1494)Gtt>Att p.V498I SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.V381I NM_003100.2 NP_003091.2 O60749 SNX2_HUMAN sorting nexin 2 498 cell communication|endocytosis|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1) 19 all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109) AGAATCACTAGTTCAAACACA 0.279000 16 42 0 0 1 0 0 LSM14B 149986 broad.mit.edu 37 20 60697761 60697761 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr20:60697761G>C ENST00000253001.4 + 1 245 c.39G>C c.(37-39)aaG>aaC p.K13N LSM14B_ENST00000370915.1_Missense_Mutation_p.K13N|LSM14B_ENST00000279068.6_Missense_Mutation_p.K13N Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 13 multicellular organismal development|regulation of translation ribonucleoprotein complex endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) TGGGCAGCAAGATCAGCCTCA 0.706000 21 31 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186760729 186760729 + Missense_Mutation SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:186760729A>G ENST00000169298.3 + 4 912 c.238A>G c.(238-240)Agt>Ggt p.S80G ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.S80G NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 80 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) GACCCTCGGCAGTCTCAGAGG 0.567000 15 48 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179437888 179437888 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:179437888G>T ENST00000589042.1 - 326 73195 c.72971C>A c.(72970-72972)cCt>cAt p.P24324H TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15259H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15384H|TTN_ENST00000591111.1_Missense_Mutation_p.P22683H|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21756H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15451H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22683 Fibronectin type-III 76. 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) TGGTGGTCCAGGTTTAAACAC 0.433000 22 45 4.35082e-09 4.75101e-09 1 1 0 PSMA6 5687 broad.mit.edu 37 14 35782199 35782199 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr14:35782199G>C ENST00000261479.4 + 5 642 c.522G>C c.(520-522)gaG>gaC p.E174D PSMA6_ENST00000555764.1_Missense_Mutation_p.E95D|PSMA6_ENST00000540871.1_Missense_Mutation_p.E155D|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.E180D|PSMA6_ENST00000556506.1_Missense_Mutation_p.E174D NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 174 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) AACAAACTGAGTCAACCAGCT 0.403000 36 264 0 0 1 0 0 ELOVL5 60481 broad.mit.edu 37 6 53139904 53139904 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr6:53139904C>A ENST00000542638.1 - 5 927 c.480G>T c.(478-480)tgG>tgT p.W160C ELOVL5_ENST00000304434.6_Missense_Mutation_p.W160C|ELOVL5_ENST00000370918.4_Missense_Mutation_p.W150C|ELOVL5_ENST00000541407.1_Missense_Mutation_p.W187C Q9NYP7 ELOV5_HUMAN ELOVL fatty acid elongase 5 160 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Lung NSC(77;0.116) CGCAGGGGACCCAGTTCATCA 0.517000 5 34 0.217242 0.217712 1 1 0 TMEM203 94107 broad.mit.edu 37 9 140099690 140099690 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr9:140099690G>A ENST00000343666.5 - 1 400 c.177C>T c.(175-177)ctC>ctT p.L59L TMEM203_ENST00000537254.1_Silent_p.L59L NM_053045.1 NP_444273.1 Q969S6 TM203_HUMAN transmembrane protein 203 59 integral to membrane central_nervous_system(1)|kidney(1) 2 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) AGTAGGTGCTGAGCCCGTCAG 0.617000 29 12 0 0 1 0 0 ADD3 120 broad.mit.edu 37 10 111883853 111883853 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr10:111883853G>A ENST00000277900.8 + 10 1587 c.1222G>A c.(1222-1224)Gca>Aca p.A408T ADD3_ENST00000360162.3_Missense_Mutation_p.A408T|ADD3_ENST00000356080.4_Missense_Mutation_p.A408T NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 408 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GGAAATCCCAGCAACTGTGAC 0.473000 38 29 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183673081 183673081 + Missense_Mutation SNP A A T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr4:183673081A>T ENST00000511685.1 + 20 3881 c.3758A>T c.(3757-3759)aAt>aTt p.N1253I TENM3_ENST00000406950.2_Missense_Mutation_p.N1253I|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 TTGACTAAAAATGCAGAAGTC 0.542000 14 10 0 0 1 0 0 CCL7 6354 broad.mit.edu 37 17 32598719 32598719 + Nonsense_Mutation SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:32598719C>G ENST00000394630.3 + 2 147 c.80C>G c.(79-81)tCa>tGa p.S27* CCL7_ENST00000394627.1_3'UTR|CCL7_ENST00000200307.4_Missense_Mutation_p.F76L|CCL7_ENST00000378569.2_Missense_Mutation_p.F66L P80098 CCL7_HUMAN chemokine (C-C motif) ligand 7 0 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) TCCACAGCTTCAAGACCAAAC 0.502000 31 9 0 0 1 0 0 GSS 2937 broad.mit.edu 37 20 33523396 33523396 + Missense_Mutation SNP G G A rs144955088 TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr20:33523396G>A ENST00000216951.2 - 9 915 c.817C>T c.(817-819)Cgt>Tgt p.R273C GSS_ENST00000451957.2_Missense_Mutation_p.R162C|GSS_ENST00000541098.1_Missense_Mutation_p.R145C NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 273 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) CTGTACTGACGAGGCATGTAG 0.473000 27 39 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179505354 179505354 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:179505354G>A ENST00000589042.1 - 221 40861 c.40637C>T c.(40636-40638)cCa>cTa p.P13546L TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P4481L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4606L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11905L|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10978L|TTN_ENST00000342175.6_Missense_Mutation_p.P4673L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11905 Ig-like 91. 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) TGGTGGTTCTGGTACTTTAAG 0.333000 20 55 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37826491 37826491 + Missense_Mutation SNP C C A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:37826491C>A ENST00000264741.5 + 26 3067 c.2811C>A c.(2809-2811)ttC>ttA p.F937L AC093415.2_ENST00000438136.1_RNA NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 937 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TCATCCAGTTCATGTCCCGCG 0.522000 24 26 3.6726e-16 4.19856e-16 1 1 0 AVPR1A 552 broad.mit.edu 37 12 63544067 63544067 + Missense_Mutation SNP G G T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:63544067G>T ENST00000299178.2 - 1 655 c.550C>A c.(550-552)Ccg>Acg p.P184T NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 184 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) AAGTACTGCGGCGTGCTCAGC 0.647000 12 74 1.5842e-08 1.71776e-08 1 1 0 CHPF2 54480 broad.mit.edu 37 7 150934492 150934492 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:150934492C>T ENST00000035307.2 + 4 2557 c.1044C>T c.(1042-1044)ccC>ccT p.P348P CHPF2_ENST00000495645.1_Silent_p.P340P NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 348 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 TGCTGACCCCCGAAGGGGAGG 0.627000 15 46 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112150 248112161 + Translation_Start_Site DEL GGAATGCTCCAT GGAATGCTCCAT - TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr1:248112150_248112161delGGAATGCTCCAT ENST00000357191.3 + 0 0_2 OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATGGATTGTAGGAATGCTCCATGGAAAATTAC 0.406 16 50 --- --- --- --- CPSF3 51692 broad.mit.edu 37 2 9574077 9574094 + Splice_Site DEL TATTCTTATCATTGTAAG TATTCTTATCATTGTAAG - TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:9574077_9574094delTATTCTTATCATTGTAAG ENST00000460593.1 + 6 1624_1636 c.486_498delTATTCTTATCATTGTAAG c.(484-498)gatattcttatcatt>ga p.DILII162del CPSF3_ENST00000238112.3_Splice_Site_p.DILII199del Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 199 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding p.L201F(1) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) TTAAGCCTGATATTCTTATCATTGTAAGTATTAATATA 0.275 21 89 --- --- --- --- REL 5966 broad.mit.edu 37 2 61145592 61145628 + Frame_Shift_Del DEL ATGTACACCGTCAAGTAGCCATTGTTTTCAAAACTCC ATGTACACCGTCAAGTAGCCATTGTTTTCAAAACTCC - TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:61145592_61145628delATGTACACCGTCAAGTAGCCATTGTTTTCAAAACTCC ENST00000295025.8 + 7 1024_1060 c.704_740delATGTACACCGTCAAGTAGCCATTGTTTTCAAAACTCC c.(703-741)gatgtacaccgtcaagtagccattgttttcaaaactccafs p.DVHRQVAIVFKTP235fs REL_ENST00000394479.3_Frame_Shift_Del_p.DVHRQVAIVFKTP235fs NM_002908.2 NP_002899.1 Q04864 REL_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog RHD. positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) TCACAAGCTGATGTACACCGTCAAGTAGCCATTGTTTTCAAAACTCCACCATATTGC 0.376 A Hodgkin Lymphoma 9 125 --- --- --- --- NEUROD1 4760 broad.mit.edu 37 2 182542570 182542570 + Frame_Shift_Del DEL A A - TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr2:182542570delA ENST00000295108.3 - 2 1475 c.1018delT c.(1018-1020)tcafs p.S340fs CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 340 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) TCATGATGTGAATGGCTATCG 0.522 52 52 --- --- --- --- SEC61A1 29927 broad.mit.edu 37 3 127775579 127775580 + Frame_Shift_Ins INS - - TA TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr3:127775579_127775580insTA ENST00000243253.3 + 5 432_433 c.248_249insTA c.(247-252)cctattfs p.PI83fs SEC61A1_ENST00000424880.2_Intron|SEC61A1_ENST00000464451.1_Frame_Shift_Ins_p.PI89fs NM_013336.3 NP_037468.1 P61619 S61A1_HUMAN Sec61 alpha 1 subunit (S. cerevisiae) 83 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 GGGATCTCTCCTATTGTCACGT 0.450 21 85 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150814 65150815 + RNA INS - - C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:65150814_65150815insC ENST00000430126.2 + 0 757 TCTTCATCCCTCACCCCCCCCC 0.460 2 4 --- --- --- --- TRBV29-1 28558 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 5 10 --- --- --- --- SLC26A7 115111 broad.mit.edu 37 8 92346658 92346658 + Frame_Shift_Del DEL C C - TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr8:92346658delC ENST00000276609.3 + 6 1017 c.778delC c.(778-780)cctfs p.P260fs SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.P260fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.P260fs NM_001282356.1|NM_052832.2 NP_001269285.1|NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 260 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) AGTTGTTCTTCCTGTAGATTT 0.363 15 15 --- --- --- --- MEN1 4221 broad.mit.edu 37 11 64572092 64572093 + Frame_Shift_Ins INS - - G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr11:64572092_64572093insG ENST00000337652.1 - 10 2064_2065 c.1561_1562insC c.(1561-1563)cggfs p.R521fs MEN1_ENST00000394376.1_Frame_Shift_Ins_p.R521fs|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000394374.2_Frame_Shift_Ins_p.R521fs|MEN1_ENST00000377321.1_Frame_Shift_Ins_p.R481fs|MEN1_ENST00000312049.6_Frame_Shift_Ins_p.R516fs|MEN1_ENST00000315422.4_Frame_Shift_Ins_p.R516fs|MEN1_ENST00000377326.3_Frame_Shift_Ins_p.R516fs|MEN1_ENST00000377313.1_Frame_Shift_Ins_p.R521fs|MEN1_ENST00000443283.1_Frame_Shift_Ins_p.R521fs|MEN1_ENST00000377316.2_Frame_Shift_Ins_p.R461fs NM_130803.2 NP_570715 O00255 MEN1_HUMAN multiple endocrine neoplasia I 521 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.R516fs*15(3) NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 AGGAGGCTTCCGGGGGGGTCCT 0.713 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 8 7 --- --- --- --- KNTC1 9735 broad.mit.edu 37 12 123035910 123035913 + Splice_Site DEL GTAG GTAG - TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr12:123035910_123035913delGTAG ENST00000333479.7 + 14 1307 c.e14+1 KNTC1_ENST00000450485.2_Splice_Site NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) ATGATCCAAAGTAGGTCATGTTTT 0.260 16 27 --- --- --- --- AOC3 8639 broad.mit.edu 37 17 41007535 41007535 + Frame_Shift_Del DEL G G - TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr17:41007535delG ENST00000308423.2 + 3 2121 c.1961delG c.(1960-1962)tggfs p.W654fs AOC3_ENST00000591562.1_Frame_Shift_Del_p.W111fs NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 654 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) AATGACCCTTGGGCCCCCACT 0.567 5 8 --- --- --- --- SMARCA4 6597 broad.mit.edu 37 19 11100050 11100056 + Frame_Shift_Del DEL GGCCGGG GGCCGGG - TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chr19:11100050_11100056delGGCCGGG ENST00000358026.2 + 7 1460_1466 c.1176_1182delGGCCGGG c.(1174-1182)ctggccgggfs p.LAG392fs SMARCA4_ENST00000444061.3_Frame_Shift_Del_p.LAG392fs|SMARCA4_ENST00000413806.3_Frame_Shift_Del_p.LAG392fs|SMARCA4_ENST00000344626.4_Frame_Shift_Del_p.LAG392fs|SMARCA4_ENST00000589677.1_Frame_Shift_Del_p.LAG392fs|SMARCA4_ENST00000429416.3_Frame_Shift_Del_p.LAG392fs|SMARCA4_ENST00000590574.1_Frame_Shift_Del_p.LAG392fs|SMARCA4_ENST00000450717.3_Frame_Shift_Del_p.LAG392fs|SMARCA4_ENST00000541122.2_Frame_Shift_Del_p.LAG392fs NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 392 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CCGGGTCCCTGGCCGGGGATTTGCGAA 0.604 """F, N, Mis""" NSCLC 38 10 --- --- --- --- PCSK1N 27344 broad.mit.edu 37 X 48690568 48690568 + Frame_Shift_Del DEL C C - TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chrX:48690568delC ENST00000218230.5 - 2 398 c.298delG c.(298-300)gatfs p.D100fs NM_013271.2 NP_037403.1 Q9UHG2 PCSK1_HUMAN proprotein convertase subtilisin/kexin type 1 inhibitor 100 ProSAAS(1-180) (By similarity). neuropeptide signaling pathway extracellular space|soluble fraction receptor binding GCCTGCTGATCCTCAGCCTCC 0.766 2 4 --- --- --- --- FGF13 2258 broad.mit.edu 37 X 137717690 137717692 + In_Frame_Del DEL CTT CTT - TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4324b185-dc6d-450d-a4ef-875af7f1fcf2 b42dcdeb-8df4-47e5-854e-9c19a30b9b36 g.chrX:137717690_137717692delCTT ENST00000315930.6 - 4 1188_1190 c.527_529delAAG c.(526-531)gaagga>gga p.E176del FGF13_ENST00000305414.4_In_Frame_Del_p.E123del|FGF13_ENST00000370603.3_In_Frame_Del_p.E186del|FGF13_ENST00000441825.2_In_Frame_Del_p.E157del|FGF13_ENST00000541469.1_In_Frame_Del_p.E130del NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 176 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) ATGATCTCTCCTTCTTTGTTCAG 0.409 33 97 --- --- --- ---