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 DACH1 1602 broad.mit.edu 37 13 72440289 72440289 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr13:72440289C>A ENST00000305425.4 - 1 1041 c.619G>T c.(619-621)Ggc>Tgc p.G207C DACH1_ENST00000313174.7_Missense_Mutation_p.G207C|DACH1_ENST00000359684.2_Missense_Mutation_p.G207C|DACH1_ENST00000354591.4_Missense_Mutation_p.G207C NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 205 DACHbox-N.|Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AGCTCGCAGCCCTCCACCGTG 0.577000 10 43 4.3838e-07 5.28012e-07 0.435327 1 0 WT1 7490 broad.mit.edu 37 11 32413520 32413520 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:32413520G>T ENST00000332351.3 - 9 1714 c.1430C>A c.(1429-1431)aCa>aAa p.T477K WT1_ENST00000379079.2_Intron|WT1_ENST00000448076.3_Intron|WT1_ENST00000530998.1_Missense_Mutation_p.T248K NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 409 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V380_S410del(1) EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) TTACGCACTTGTTTTACCTGT 0.383000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 56 153 3.28615e-30 6.37553e-30 0.870114 1 0 NEBL 10529 broad.mit.edu 37 10 21461395 21461395 + Missense_Mutation SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr10:21461395T>A ENST00000417816.2 - 2 434 c.81A>T c.(79-81)aaA>aaT p.K27N NEBL_ENST00000464278.1_5'UTR NM_001173484.1|NM_213569.2 NP_001166955.1|NP_998734.1 O76041 NEBL_HUMAN nebulette 0 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GGAAACATCCTTTATGCCAAT 0.383000 9 31 0 0 0.411799 0 0 WDR36 134430 broad.mit.edu 37 5 110446893 110446893 + Missense_Mutation SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:110446893T>A ENST00000506538.2 + 15 2373 c.1800T>A c.(1798-1800)gaT>gaA p.D600E WDR36_ENST00000505303.1_Missense_Mutation_p.D544E|WDR36_ENST00000513710.2_Missense_Mutation_p.D600E NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 600 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) TCGCCTTGGATGACTTCTCCA 0.378000 60 194 0 0 0.870114 0 0 ZNF286B 729288 broad.mit.edu 37 17 18565820 18565820 + Silent SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr17:18565820C>A ENST00000545289.1 - 5 1249 c.999G>T c.(997-999)ggG>ggT p.G333G NM_001145045.1 NP_001138517.1 P0CG31 Z286B_HUMAN zinc finger protein 286B 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 TAAAACCTTTCCCACATTCAT 0.383000 12 39 8.28177e-16 1.24227e-15 0.557998 1 0 NBAS 51594 broad.mit.edu 37 2 15378592 15378592 + Splice_Site SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:15378592C>G ENST00000281513.5 - 45 5968 c.5943_splice c.e45+1 p.Q1981_splice NBAS_ENST00000441750.1_Splice_Site_p.Q1861_splice NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1981 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ATTTCTTTACCTGCTCACTAT 0.393000 11 23 0 0 0.387290 0 0 DICER1 23405 broad.mit.edu 37 14 95570155 95570155 + Missense_Mutation SNP T T C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr14:95570155T>C ENST00000526495.1 - 23 3869 c.3578A>G c.(3577-3579)aAc>aGc p.N1193S DICER1_ENST00000527414.1_Missense_Mutation_p.N1193S|DICER1_ENST00000541352.1_Missense_Mutation_p.N1193S|DICER1_ENST00000393063.1_Missense_Mutation_p.N1193S|DICER1_ENST00000556045.1_Missense_Mutation_p.N91S|DICER1_ENST00000343455.3_Missense_Mutation_p.N1193S Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1193 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AAAGTCTCTGTTAGCTAAATC 0.393000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 63 72 0 0 0.870114 0 0 PARD3B 117583 broad.mit.edu 37 2 206166215 206166215 + Missense_Mutation SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:206166215C>G ENST00000406610.2 + 18 2627 c.2420C>G c.(2419-2421)tCt>tGt p.S807C PARD3B_ENST00000358768.2_Missense_Mutation_p.S745C|PARD3B_ENST00000462231.1_Missense_Mutation_p.S807C|PARD3B_ENST00000351153.1_Missense_Mutation_p.S738C|PARD3B_ENST00000349953.3_Missense_Mutation_p.S807C NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 807 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) AGCTCTCACTCTGGCCAAGGA 0.448000 29 71 0 0 0.796494 0 0 SULF1 23213 broad.mit.edu 37 8 70512970 70512970 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr8:70512970G>T ENST00000260128.4 + 9 1584 c.867G>T c.(865-867)gtG>gtT p.V289V SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Silent_p.V289V|SULF1_ENST00000458141.2_Silent_p.V289V|SULF1_ENST00000419716.3_Silent_p.V289V NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 289 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TGATGTCAGTGGATGATTCTG 0.438000 80 92 1.82171e-49 3.80797e-49 0.870114 1 0 ACSM2B 348158 broad.mit.edu 37 16 20566619 20566619 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr16:20566619C>A ENST00000329697.6 - 4 736 c.568G>T c.(568-570)Ggg>Tgg p.G190W ACSM2B_ENST00000414188.2_Missense_Mutation_p.G190W|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G190W|ACSM2B_ENST00000565232.1_Missense_Mutation_p.G190W|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G111W NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 190 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TTCAGCCACCCATCGCAGCTT 0.443000 70 198 3.82636e-28 7.16613e-28 0.870114 1 0 KCNMB1 3779 broad.mit.edu 37 5 169812331 169812331 + Missense_Mutation SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:169812331G>A ENST00000274629.4 - 2 563 c.121C>T c.(121-123)Ctc>Ttc p.L41F KCNMB1_ENST00000521859.1_Missense_Mutation_p.L41F|KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 41 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) TTCTGGTAGAGGGGCAGCACA 0.602000 53 51 0 0 0.870114 0 0 DNPEP 23549 broad.mit.edu 37 2 220251451 220251451 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:220251451C>A ENST00000273075.4 - 4 489 c.269G>T c.(268-270)gGc>gTc p.G90V DNPEP_ENST00000523282.1_Missense_Mutation_p.G98V|DNPEP_ENST00000373972.1_Missense_Mutation_p.G15V NM_012100.2 NP_036232.2 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 80 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) AACGTACTGGCCCCCTACAGC 0.582000 8 10 7.48243e-07 8.88025e-07 0.335167 1 0 ZNF622 90441 broad.mit.edu 37 5 16465729 16465729 + Missense_Mutation SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:16465729C>G ENST00000308683.2 - 1 172 c.46G>C c.(46-48)Gcg>Ccg p.A16P NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 16 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 TGCATGTCCGCGTCGCGGAAC 0.632000 14 66 0 0 0.500413 0 0 CCDC89 220388 broad.mit.edu 37 11 85396673 85396673 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:85396673C>A ENST00000316398.3 - 1 647 c.501G>T c.(499-501)caG>caT p.Q167H NM_152723.1 NP_689936.1 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 167 cytoplasm|nucleus NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CCTTCAGAGCCTGGCTGAAGA 0.527000 51 56 4.6707e-30 8.95448e-30 0.870114 1 0 MICAL2 9645 broad.mit.edu 37 11 12183740 12183740 + Missense_Mutation SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:12183740G>A ENST00000256194.4 + 3 326 c.38G>A c.(37-39)gGg>gAg p.G13E MICAL2_ENST00000527546.1_Missense_Mutation_p.G13E|MICAL2_ENST00000379612.3_Missense_Mutation_p.G13E|MICAL2_ENST00000537344.1_Missense_Mutation_p.G13E|MICAL2_ENST00000342902.5_Missense_Mutation_p.G13E NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 13 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding p.G13V(1) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) GCCCAGGCGGGGCAGGTTTTT 0.572000 11 43 0 0 0.435327 0 0 ZNF519 162655 broad.mit.edu 37 18 14105256 14105256 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr18:14105256C>A ENST00000590202.1 - 3 1435 c.1283G>T c.(1282-1284)gGa>gTa p.G428V ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 GTGTTTCTCTCCAGTATGGAT 0.408000 33 48 1.57351e-24 2.81668e-24 0.788014 1 0 ADCY10 55811 broad.mit.edu 37 1 167825589 167825589 + Missense_Mutation SNP C C A rs148745290 TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:167825589C>A ENST00000367848.1 - 17 2206 c.1709G>T c.(1708-1710)cGg>cTg p.R570L ADCY10_ENST00000545172.1_Missense_Mutation_p.R509L|ADCY10_ENST00000367851.4_Missense_Mutation_p.R662L Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 662 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AGGAAGAGTCCGGATAAGCTT 0.443000 84 132 6.42612e-47 1.33466e-46 0.870114 1 0 ZNF286B 729288 broad.mit.edu 37 17 18565821 18565821 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr17:18565821C>A ENST00000545289.1 - 5 1248 c.998G>T c.(997-999)gGg>gTg p.G333V NM_001145045.1 NP_001138517.1 P0CG31 Z286B_HUMAN zinc finger protein 286B 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 AAAACCTTTCCCACATTCATT 0.388000 12 40 8.28177e-16 1.24227e-15 0.557998 1 0 AFF4 27125 broad.mit.edu 37 5 132234013 132234013 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:132234013C>T ENST00000265343.5 - 10 1677 c.1298G>A c.(1297-1299)gGa>gAa p.G433E AFF4_ENST00000378595.3_Missense_Mutation_p.G433E NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 433 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCTTTCAGATCCACTGTGGCT 0.453000 31 50 0 0 0.769981 0 0 ERG 2078 broad.mit.edu 37 21 39775583 39775583 + Missense_Mutation SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr21:39775583G>A ENST00000442448.1 - 6 729 c.458C>T c.(457-459)gCg>gTg p.A153V ERG_ENST00000398910.1_Missense_Mutation_p.A153V|ERG_ENST00000398919.2_Missense_Mutation_p.A153V|ERG_ENST00000417133.2_Missense_Mutation_p.A153V|ERG_ENST00000398897.1_Missense_Mutation_p.A54V|ERG_ENST00000453032.2_Missense_Mutation_p.A54V|ERG_ENST00000288319.7_Missense_Mutation_p.A146V|ERG_ENST00000398907.1_Missense_Mutation_p.A146V|ERG_ENST00000398905.1_Missense_Mutation_p.A146V|ERG_ENST00000429727.2_Intron|ERG_ENST00000398911.1_Missense_Mutation_p.A153V NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 153 PNT. 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) TTCTTTCACCGCCCACTCCAG 0.507000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 19 52 0 0 0.624587 0 0 ANK2 287 broad.mit.edu 37 4 114276041 114276041 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr4:114276041C>A ENST00000357077.4 + 38 6320 c.6267C>A c.(6265-6267)agC>agA p.S2089R ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2056R|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2056 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAGTTCTCAGCCACAAAATAC 0.488000 10 27 4.68919e-08 5.7768e-08 0.361761 1 0 SLAMF9 89886 broad.mit.edu 37 1 159921514 159921514 + Silent SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:159921514C>T ENST00000368093.3 - 4 923 c.807G>A c.(805-807)aaG>aaA p.K269K SLAMF9_ENST00000368092.3_Silent_p.K178K|SLAMF9_ENST00000466773.1_5'UTR NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 269 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCATGAGTTTCTTCATCCTTG 0.507000 56 75 0 0 0.870114 0 0 VSX1 30813 broad.mit.edu 37 20 25056959 25056959 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr20:25056959G>T ENST00000376709.4 - 5 1299 c.1036C>A c.(1036-1038)Caa>Aaa p.Q346K VSX1_ENST00000429762.3_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000424574.1_Intron NM_014588.5 NP_055403.2 Q9NZR4 VSX1_HUMAN visual system homeobox 1 346 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2) 6 GAGCCTCCTTGAGCACCAGCC 0.587000 13 29 0.00185496 0.00193873 0.435327 1 0 ZNF99 7652 broad.mit.edu 37 19 22939928 22939928 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:22939928G>T ENST00000397104.3 - 6 2402 c.2403C>A c.(2401-2403)ccC>ccA p.P801P zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CACATTTGTAGGGCTTCTCCC 0.378000 24 53 1.33986e-20 2.28482e-20 0.681144 1 0 TMEM169 92691 broad.mit.edu 37 2 216964791 216964791 + Missense_Mutation SNP G G C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:216964791G>C ENST00000454545.1 + 4 746 c.420G>C c.(418-420)agG>agC p.R140S TMEM169_ENST00000437356.2_Missense_Mutation_p.R140S|TMEM169_ENST00000295658.4_Missense_Mutation_p.R140S|TMEM169_ENST00000406027.2_Missense_Mutation_p.R140S NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 140 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGTCATCAAGGGAAACGACGC 0.537000 10 20 0 0 0.361761 0 0 OR5B2 390190 broad.mit.edu 37 11 58189955 58189955 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:58189955G>T ENST00000302581.2 - 1 831 c.780C>A c.(778-780)ccC>ccA p.P260P NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) GGCTGGAGCTGGGCTGCAAGT 0.498000 14 40 9.16793e-09 1.14688e-08 0.520397 1 0 BBC3 27113 broad.mit.edu 37 19 47725050 47725050 + Missense_Mutation SNP T T C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:47725050T>C ENST00000449228.1 - 4 857 c.694A>G c.(694-696)Acc>Gcc p.T232A BBC3_ENST00000300880.7_Missense_Mutation_p.T72A|BBC3_ENST00000439096.2_3'UTR|BBC3_ENST00000341983.4_3'UTR NM_001127240.2 NP_001120712.1 Q9BXH1 BBC3_HUMAN BCL2 binding component 3 0 activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol cytosol|mitochondrial outer membrane protein binding endometrium(1)|lung(2)|skin(1) 4 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234) ACCGGGCGGGTGCAGGCACCT 0.662000 9 10 0 0 0.335167 0 0 SPEN 23013 broad.mit.edu 37 1 16256929 16256929 + Missense_Mutation SNP A A C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:16256929A>C ENST00000375759.3 + 11 4398 c.4194A>C c.(4192-4194)ttA>ttC p.L1398F NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1398 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CCTCTGCATTATATGAAAGTT 0.423000 10 30 0 0 0.387290 0 0 PRPF40A 55660 broad.mit.edu 37 2 153519186 153519186 + Silent SNP T T C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:153519186T>C ENST00000410080.1 - 21 2794 c.2253A>G c.(2251-2253)ccA>ccG p.P751P NM_017892.3 NP_060362.3 O75400 PR40A_HUMAN PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 778 FF 5. mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1) 21 CCTCAAATGCTGGCTCTTTTA 0.269000 7 11 0 0 0.361761 0 0 TRIM51 84767 broad.mit.edu 37 11 55655703 55655703 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:55655703C>A ENST00000449290.2 + 4 795 c.703C>A c.(703-705)Caa>Aaa p.Q235K TRIM51_ENST00000244891.3_Missense_Mutation_p.Q92K NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 235 intracellular zinc ion binding GGATCTGAAGCAAATGTGCCA 0.448000 6 58 0.000157383 0.000169409 0.278610 1 0 ERBB4 2066 broad.mit.edu 37 2 212589909 212589909 + Silent SNP C C T rs142765774 by1000genomes TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:212589909C>T ENST00000342788.4 - 6 943 c.633G>A c.(631-633)acG>acA p.T211T ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Silent_p.T211T|ERBB4_ENST00000436443.1_Silent_p.T211T NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 211 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.T211T(1) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CTGCACACACCGTCCTTGTCA 0.512000 TSP Lung(8;0.080) 27 86 0 0 0.769981 0 0 REG1P 5969 broad.mit.edu 37 2 79364190 79364190 + RNA SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:79364190T>A ENST00000444841.1 - 0 285 CCAGCATCTCTGTGCTGAATG 0.463000 4 5 0 0 0.150653 0 0 NCAM1 4684 broad.mit.edu 37 11 113075033 113075033 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:113075033C>A ENST00000316851.7 + 2 123 c.123C>A c.(121-123)gaC>gaA p.D41E NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.D50E|NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 51 Ig-like C2-type 1. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AAGATAAAGACATCTCCTGGT 0.468000 5 12 0.184627 0.186353 0.184627 1 0 REG1P 5969 broad.mit.edu 37 2 79364189 79364189 + RNA SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:79364189C>A ENST00000444841.1 - 0 285 ACCAGCATCTCTGTGCTGAAT 0.468000 4 5 0.00909568 0.00935556 0.150653 1 0 GALNT2 2590 broad.mit.edu 37 1 230371838 230371838 + Silent SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:230371838C>G ENST00000366672.4 + 4 525 c.453C>G c.(451-453)gcC>gcG p.A151A GALNT2_ENST00000543760.1_Silent_p.A113A|GALNT2_ENST00000541865.1_Silent_p.A61A NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 151 Catalytic subdomain A. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) CCAGGTCGGCCCTACTCAGGA 0.582000 11 39 0 0 0.457914 0 0 CCDC136 64753 broad.mit.edu 37 7 128446765 128446765 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr7:128446765G>T ENST00000297788.4 + 9 1639 c.1272G>T c.(1270-1272)aaG>aaT p.K424N CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Missense_Mutation_p.K371N NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 424 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 GGCTGCAGAAGCTGCACCTCC 0.572000 7 9 1.12685e-05 1.26771e-05 0.307466 1 0 COL6A2 1292 broad.mit.edu 37 21 47546150 47546150 + Splice_Site SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr21:47546150G>A ENST00000300527.4 + 26 2525 c.2422_splice c.e26+1 p.P807_splice COL6A2_ENST00000397763.1_Splice_Site_p.P807_splice|COL6A2_ENST00000310645.5_Splice_Site_p.P807_splice|COL6A2_ENST00000357838.4_Splice_Site_p.P807_splice|COL6A2_ENST00000409416.1_Splice_Site_p.P807_splice NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 807 Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) TCCTCTGCCCGGGTGAGCGTG 0.652000 59 82 0 0 0.870114 0 0 COL22A1 169044 broad.mit.edu 37 8 139890388 139890388 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr8:139890388G>T ENST00000303045.6 - 3 709 c.263C>A c.(262-264)aCg>aAg p.T88K COL22A1_ENST00000435777.1_Missense_Mutation_p.T88K NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 88 VWFA. cell adhesion collagen|cytoplasm structural molecule activity p.T88M(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTCGAAGGCCGTGGTGGGCCG 0.697000 HNSCC(7;0.00092) 7 5 2.17888e-05 2.41766e-05 0.335167 1 0 GSG1L 146395 broad.mit.edu 37 16 27840252 27840252 + Missense_Mutation SNP A A G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr16:27840252A>G ENST00000380898.2 - 5 772 c.223T>C c.(223-225)Tgc>Cgc p.C75R GSG1L_ENST00000447459.2_Missense_Mutation_p.C230R|GSG1L_ENST00000569166.1_Missense_Mutation_p.C75R|GSG1L_ENST00000380897.3_Missense_Mutation_p.C75R|GSG1L_ENST00000395724.3_Missense_Mutation_p.C179R Q6UXU4 GSG1L_HUMAN GSG1-like 230 Ala-rich. integral to membrane endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4) 17 GCTGCCATGCAGCAGGTAAAG 0.582000 14 30 0 0 0.539581 0 0 FTHL17 53940 broad.mit.edu 37 X 31090017 31090017 + Missense_Mutation SNP G G T rs145075121 TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:31090017G>T ENST00000359202.3 - 1 153 c.54C>A c.(52-54)gaC>gaA p.D18E NM_031894.2 NP_114100.1 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 18 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 23 TGATGGCGGCGTCGCAGTTGG 0.642000 28 42 3.73148e-12 5.2112e-12 0.717897 1 0 OVCH1 341350 broad.mit.edu 37 12 29608325 29608325 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr12:29608325C>A ENST00000318184.5 - 20 2293 c.2294G>T c.(2293-2295)gGg>gTg p.G765V OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 765 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TACTAGTGGCCCACCAGAGTC 0.453000 18 41 4.35082e-09 5.5065e-09 0.592651 1 0 SLIT2 9353 broad.mit.edu 37 4 20618585 20618585 + Missense_Mutation SNP C C G rs141395818 TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr4:20618585C>G ENST00000504154.1 + 35 4152 c.3900C>G c.(3898-3900)aaC>aaG p.N1300K SLIT2_ENST00000503837.1_Missense_Mutation_p.N1296K|SLIT2_ENST00000273739.5_Missense_Mutation_p.N1313K|SLIT2_ENST00000503823.1_Missense_Mutation_p.N1292K NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1300 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CTGGGCAGAACGGAACCAGCT 0.582000 6 32 0 0 0.278610 0 0 DHX37 57647 broad.mit.edu 37 12 125449541 125449541 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr12:125449541C>T ENST00000308736.2 - 14 1845 c.1747G>A c.(1747-1749)Gat>Aat p.D583N DHX37_ENST00000544745.1_Missense_Mutation_p.D370N NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 583 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) AGGGAGGCATCCGGCTGCTCA 0.682000 6 8 0 0 0.278610 0 0 ITPR3 3710 broad.mit.edu 37 6 33634974 33634974 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr6:33634974G>T ENST00000374316.5 + 16 2680 c.1620G>T c.(1618-1620)gaG>gaT p.E540D ITPR3_ENST00000605930.1_Missense_Mutation_p.E540D Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 540 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GGCTGGAGGAGCTGTCAGACC 0.617000 31 52 4.66903e-05 5.11069e-05 0.750413 1 0 SORCS1 114815 broad.mit.edu 37 10 108437095 108437095 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr10:108437095G>T ENST00000263054.6 - 13 1815 c.1808C>A c.(1807-1809)aCa>aAa p.T603K SORCS1_ENST00000369698.1_Missense_Mutation_p.T138K|SORCS1_ENST00000344440.6_Missense_Mutation_p.T603K NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 603 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGGGAGAGATGTGTGTTTCAT 0.458000 10 60 9.31168e-06 1.05489e-05 0.435327 1 0 CRB1 23418 broad.mit.edu 37 1 197298112 197298112 + Missense_Mutation SNP A A G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:197298112A>G ENST00000367400.3 + 2 766 c.631A>G c.(631-633)Atc>Gtc p.I211V CRB1_ENST00000538660.1_Missense_Mutation_p.I211V|CRB1_ENST00000535699.1_Missense_Mutation_p.I142V|CRB1_ENST00000367399.2_Missense_Mutation_p.I211V NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 211 EGF-like 5; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ATATACTTGTATCTGTCCCCA 0.413000 3 56 0 0 0.150653 0 0 RCN3 57333 broad.mit.edu 37 19 50040445 50040445 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:50040445C>T ENST00000270645.3 + 4 1048 c.601C>T c.(601-603)Cgg>Tgg p.R201W NM_020650.2 NP_065701.2 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 201 EF-hand 4. endoplasmic reticulum lumen calcium ion binding|protein binding p.R201W(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 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;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) CCCTCACATGCGGGACATCGT 0.662000 64 124 0 0 0.870114 0 0 KCNJ4 3761 broad.mit.edu 37 22 38824099 38824099 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr22:38824099G>T ENST00000303592.3 - 2 297 c.39C>A c.(37-39)ccC>ccA p.P13P NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 13 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) GCTTCCGCCGGGGCACGTGGG 0.647000 113 144 4.13896e-67 8.76485e-67 0.870114 1 0 GOT1 2805 broad.mit.edu 37 10 101163362 101163362 + Nonsense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr10:101163362C>A ENST00000370508.5 - 7 850 c.823G>T c.(823-825)Gga>Tga p.G275* GOT1_ENST00000543866.1_Nonsense_Mutation_p.G254* NM_002079.2 NP_002070.1 P17174 AATC_HUMAN glutamic-oxaloacetic transaminase 1, soluble 275 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GGTTCTTTTCCAACCACAGTC 0.547000 51 85 6.81593e-30 1.29904e-29 0.870114 1 0 OR5M3 219482 broad.mit.edu 37 11 56237922 56237922 + Missense_Mutation SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:56237922G>A ENST00000312240.2 - 1 92 c.52C>T c.(52-54)Cgt>Tgt p.R18C NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) CATTCTCGACGGCTCGTTAGC 0.398000 6 74 0 0 0.248553 0 0 NCK2 8440 broad.mit.edu 37 2 106497870 106497870 + Missense_Mutation SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:106497870G>A ENST00000233154.4 + 4 755 c.313G>A c.(313-315)Ggc>Agc p.G105S NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.G105S|NCK2_ENST00000451463.2_Intron NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 105 axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 CAATGGCAGCGGCGCCGACCG 0.677000 20 33 0 0 0.592651 0 0 EMILIN3 90187 broad.mit.edu 37 20 39989942 39989942 + Missense_Mutation SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr20:39989942A>T ENST00000332312.3 - 4 2459 c.2267T>A c.(2266-2268)cTg>cAg p.L756Q NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 756 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) CTGCTCAGCCAGCTGGGCCTG 0.657000 9 33 0 0 0.361761 0 0 AMER2 219287 broad.mit.edu 37 13 25744312 25744312 + Silent SNP G G T rs139238510 TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr13:25744312G>T ENST00000357816.2 - 3 1564 c.1089C>A c.(1087-1089)gcC>gcA p.A363A AMER2_ENST00000381853.3_Silent_p.A363A|AMER2_ENST00000515384.1_Silent_p.A482A APC membrane recruitment protein 2 ACGCGTCCTTGGCCGCTTCCA 0.657000 8 18 0.000157383 0.000169409 0.278610 1 0 GRHL2 79977 broad.mit.edu 37 8 102656358 102656358 + Splice_Site SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr8:102656358G>T ENST00000251808.3 + 13 1855 c.e13-1 GRHL2_ENST00000517674.1_Splice_Site|GRHL2_ENST00000395927.1_Splice_Site NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) ATCTTTTCTAGTGGCAGTGTC 0.453000 4 30 1.23904e-05 1.3891e-05 0.184627 1 0 CAMTA1 23261 broad.mit.edu 37 1 7724662 7724662 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:7724662G>T ENST00000303635.7 + 9 2262 c.2055G>T c.(2053-2055)acG>acT p.T685T CAMTA1_ENST00000439411.2_Silent_p.T685T NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 685 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) AGGCCATGACGGCAGAAGGGG 0.637000 T WWTR1 epitheliod hemangioendothelioma 8 60 0.0477658 0.0485144 0.307466 1 0 ITGA4 3676 broad.mit.edu 37 2 182344947 182344947 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:182344947G>T ENST00000397033.2 + 6 1138 c.708G>T c.(706-708)aaG>aaT p.K236N NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 236 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATAAATACAAGGCTTTTTTAG 0.303000 13 35 5.50884e-06 6.26268e-06 0.411799 1 0 SUCLG2 8801 broad.mit.edu 37 3 67578634 67578634 + Silent SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr3:67578634C>A ENST00000307227.5 - 4 366 c.339G>T c.(337-339)gtG>gtT p.V113V SUCLG2_ENST00000493112.1_Silent_p.V113V|SUCLG2_ENST00000492795.1_Silent_p.V113V NM_003848.3 NP_003839.2 Q96I99 SUCB2_HUMAN succinate-CoA ligase, GDP-forming, beta subunit 113 ATP-grasp. succinyl-CoA metabolic process|tricarboxylic acid cycle mitochondrial matrix ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 10 Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121) BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153) Succinic acid(DB00139) CCAGCTGTCCCACAACATTAG 0.378000 9 26 9.70103e-10 1.27252e-09 0.361761 1 0 CHL1 10752 broad.mit.edu 37 3 391201 391201 + Silent SNP T T G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr3:391201T>G ENST00000256509.2 + 10 1650 c.1008T>G c.(1006-1008)acT>acG p.T336T CHL1_ENST00000397491.2_Silent_p.T320T NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 320 Ig-like C2-type 4. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GAACAGCCACTCACGATTTTC 0.393000 24 85 0 0 0.769981 0 0 FLT1 2321 broad.mit.edu 37 13 28893609 28893609 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr13:28893609C>A ENST00000282397.4 - 24 3488 c.3237G>T c.(3235-3237)aaG>aaT p.K1079N FLT1_ENST00000540678.1_Missense_Mutation_p.K297N|FLT1_ENST00000543394.1_Missense_Mutation_p.K102N NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 1079 Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ACACGTCGCTCTTGGTGCTGT 0.463000 7 19 5.18039e-06 5.91002e-06 0.278610 1 0 AMER3 205147 broad.mit.edu 37 2 131519752 131519752 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:131519752C>A ENST00000423981.1 + 2 217 c.107C>A c.(106-108)cCc>cAc p.P36H AMER3_ENST00000321420.4_Missense_Mutation_p.P36H NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 GGGACAGGCCCCTGGTCAGTC 0.622000 7 7 0.00198382 0.002047 0.248553 1 0 GAL3ST4 79690 broad.mit.edu 37 7 99764351 99764351 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr7:99764351C>A ENST00000360039.4 - 3 595 c.203G>T c.(202-204)cGa>cTa p.R68L GAL3ST4_ENST00000411994.1_Intron|GAL3ST4_ENST00000423751.1_Intron|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R68L|GAL3ST4_ENST00000426974.2_Intron|GAL3ST4_ENST00000482469.1_5'UTR NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 68 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAACACCAGTCGCTGCCGGGG 0.657000 5 19 0.00116845 0.00122517 0.217242 1 0 FAT1 2195 broad.mit.edu 37 4 187540236 187540236 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr4:187540236C>T ENST00000441802.2 - 10 7713 c.7504G>A c.(7504-7506)Gct>Act p.A2502T NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2502 Cadherin 23. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GCGTTTTCAGCTAGTTCCACT 0.423000 HNSCC(5;0.00058) 52 151 0 0 0.870114 0 0 COL4A5 1287 broad.mit.edu 37 X 107920744 107920744 + Nonsense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:107920744G>T ENST00000328300.6 + 44 4067 c.3823G>T c.(3823-3825)Gaa>Taa p.E1275* COL4A5_ENST00000361603.2_Nonsense_Mutation_p.E1269* NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1269 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 ACCAGGTCCAGAAGGTCCTCC 0.443000 Alport syndrome with Diffuse Leiomyomatosis 34 28 3.38236e-24 5.98844e-24 0.827153 1 0 ZEB1 6935 broad.mit.edu 37 10 31799619 31799619 + Nonsense_Mutation SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr10:31799619C>G ENST00000446923.2 + 5 843 c.452C>G c.(451-453)tCa>tGa p.S151* ZEB1_ENST00000542815.3_Nonsense_Mutation_p.S100*|ZEB1_ENST00000320985.10_Nonsense_Mutation_p.S167*|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.S168*|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.S147* NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 167 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) GATGCATTTTCACAATTACTC 0.313000 38 36 0 0 0.859065 0 0 EFCAB6 64800 broad.mit.edu 37 22 44161271 44161271 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr22:44161271G>T ENST00000262726.7 - 5 607 c.354C>A c.(352-354)atC>atA p.I118I EFCAB6_ENST00000356087.4_Silent_p.I12I|EFCAB6_ENST00000358439.4_Silent_p.I12I|EFCAB6_ENST00000396231.2_5'UTR NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TGCTAAGGGGGATCTACAGTC 0.408000 16 102 2.4624e-09 3.14101e-09 0.575678 1 0 ABCB5 340273 broad.mit.edu 37 7 20689721 20689721 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr7:20689721G>T ENST00000404938.2 + 12 1935 c.1283G>T c.(1282-1284)aGt>aTt p.S428I ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000406935.1_5'UTR NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 612 ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 AGTGGGAAGAGTACGGTAGTC 0.458000 22 28 1.5548e-18 2.48155e-18 0.693898 1 0 SLC15A1 6564 broad.mit.edu 37 13 99356551 99356551 + Missense_Mutation SNP A A G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr13:99356551A>G ENST00000376503.5 - 17 1463 c.1408T>C c.(1408-1410)Tac>Cac p.Y470H NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 470 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) ACCACCTGGTAGTGATTGGGG 0.458000 15 78 0 0 0.539581 0 0 PAGE5 90737 broad.mit.edu 37 X 55247075 55247075 + Missense_Mutation SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:55247075A>T ENST00000289619.5 + 1 288 c.43A>T c.(43-45)Agg>Tgg p.R15W PAGE5_ENST00000374952.1_Intron|PAGE5_ENST00000374955.3_Intron NM_130467.3 NP_569734.2 Q96GU1 GGEE1_HUMAN P antigen family, member 5 (prostate associated) 15 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 GGCTGGAACGAGGGAGGAAGG 0.642000 6 13 0 0 0.248553 0 0 DOC2A 8448 broad.mit.edu 37 16 30017977 30017977 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr16:30017977G>T ENST00000350119.4 - 9 1090 c.900C>A c.(898-900)gaC>gaA p.D300E DOC2A_ENST00000564979.1_Missense_Mutation_p.D300E|DOC2A_ENST00000564944.1_Missense_Mutation_p.D300E NM_003586.2 NP_003577.2 Q14183 DOC2A_HUMAN double C2-like domains, alpha 300 C2 2.|Interaction with UNC13D. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2) 9 TGGATTTCTTGTCCACATCGG 0.607000 34 61 9.9191e-30 1.87941e-29 0.840704 1 0 XIRP2 129446 broad.mit.edu 37 2 168104682 168104682 + Silent SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:168104682C>A ENST00000409195.1 + 9 6869 c.6780C>A c.(6778-6780)tcC>tcA p.S2260S XIRP2_ENST00000295237.9_Silent_p.S2260S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.S2038S NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2085 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CAAATACTTCCACAGGCTTAA 0.393000 32 46 2.42023e-17 3.73407e-17 0.779181 1 0 OR14C36 127066 broad.mit.edu 37 1 248512625 248512625 + Silent SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:248512625G>A ENST00000317861.1 + 1 549 c.549G>A c.(547-549)ctG>ctA p.L183L NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CCTCTCTGCTGAAGCTCTCTT 0.498000 44 57 0 0 0.870114 0 0 FAM9B 171483 broad.mit.edu 37 X 9000187 9000187 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:9000187C>A ENST00000362066.3 - 3 488 c.300G>T c.(298-300)aaG>aaT p.K100N FAM9B_ENST00000327220.5_Missense_Mutation_p.K55N|FAM9B_ENST00000428477.1_Missense_Mutation_p.K55N Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 55 nucleus breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 Hepatocellular(5;0.219) TATCTTCTGGCTTCTTGGTAT 0.318000 14 26 4.7546e-09 5.9709e-09 0.500413 1 0 CHD5 26038 broad.mit.edu 37 1 6173025 6173025 + Missense_Mutation SNP T T C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:6173025T>C ENST00000262450.3 - 34 5045 c.4946A>G c.(4945-4947)gAc>gGc p.D1649G CHD5_ENST00000378021.1_Missense_Mutation_p.D506G NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1649 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CTCCAGCTTGTCCAGGATCTT 0.577000 19 39 0 0 0.667858 0 0 TMC3 342125 broad.mit.edu 37 15 81627114 81627114 + Silent SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr15:81627114A>T ENST00000558726.1 - 21 2544 c.2409T>A c.(2407-2409)ccT>ccA p.P803P RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Silent_p.P802P Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 802 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 GAGGTGAGCTAGGAGCCCTGT 0.567000 6 20 0 0 0.217242 0 0 PALM 5064 broad.mit.edu 37 19 726187 726187 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:726187G>T ENST00000264560.7 + 2 249 c.55G>T c.(55-57)Gca>Tca p.A19S PALM_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.A19S NM_001040134.1 NP_001035224.1 O75781 PALM_HUMAN paralemmin 19 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201) GCAGGCCATCGCAGTGAGTTT 0.677000 25 23 6.07407e-21 1.04127e-20 0.717897 1 0 ZNF605 100289635 broad.mit.edu 37 12 133502051 133502051 + Missense_Mutation SNP T T C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr12:133502051T>C ENST00000360187.4 - 5 2182 c.1834A>G c.(1834-1836)Aca>Gca p.T612A ZNF605_ENST00000392321.3_Missense_Mutation_p.T643A NM_183238.3 NP_899061.1 Q86T29 ZN605_HUMAN zinc finger protein 605 612 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00227)|all_epithelial(31;0.142) OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06) TTATCTCCTGTATGAATCCTC 0.378000 28 68 0 0 0.779181 0 0 NUPL1 9818 broad.mit.edu 37 13 25895081 25895081 + Missense_Mutation SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr13:25895081A>T ENST00000463407.1 + 9 944 c.801A>T c.(799-801)caA>caT p.Q267H NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.Q255H|NUPL1_ENST00000381736.3_Missense_Mutation_p.Q267H Q9BVL2 NUPL1_HUMAN nucleoporin like 1 267 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1) 16 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) AGCAGAAACAAGTTCAAGAAG 0.303000 12 10 0 0 0.411799 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33637732 33637732 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:33637732G>T ENST00000504830.1 - 12 2173 c.1838C>A c.(1837-1839)aCt>aAt p.T613N ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T613N NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 613 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GTAGGGAACAGTGTCAAATTC 0.468000 HNSCC(64;0.19) 45 87 1.48341e-19 2.45217e-19 0.870114 1 0 HIRIP3 8479 broad.mit.edu 37 16 30005266 30005266 + Silent SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr16:30005266A>T ENST00000279392.3 - 4 2030 c.1200T>A c.(1198-1200)tcT>tcA p.S400S HIRIP3_ENST00000564026.1_Intron NM_003609.4 NP_003600.2 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 400 Poly-Ser. chromatin assembly or disassembly nucleus protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9) 17 CTGAGGAGGAAGAGGAGCTTC 0.622000 18 27 0 0 0.624587 0 0 TNXB 7148 broad.mit.edu 37 6 32011571 32011571 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr6:32011571G>T ENST00000375244.3 - 35 11686 c.11485C>A c.(11485-11487)Cga>Aga p.R3829R TNXB_ENST00000451343.1_Silent_p.R258R|TNXB_ENST00000375247.2_Silent_p.R3827R P22105 TENX_HUMAN tenascin XB 3874 Fibronectin type-III 30. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCAAAGCCTCGGACCGAGACC 0.637000 43 74 1.8453e-21 3.1972e-21 0.853193 1 0 ZFP69B 65243 broad.mit.edu 37 1 40923036 40923036 + Missense_Mutation SNP G G C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:40923036G>C ENST00000411995.2 + 5 736 c.361G>C c.(361-363)Ggc>Cgc p.G121R ZFP69B_ENST00000361584.3_Missense_Mutation_p.G19R|ZFP69B_ENST00000484445.1_Missense_Mutation_p.W92S NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B TTCCAAACCTGGCGTGATTTC 0.458000 17 30 0 0 0.608945 0 0 XKR7 343702 broad.mit.edu 37 20 30584749 30584749 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr20:30584749C>A ENST00000217299.3 + 3 1403 c.1229C>A c.(1228-1230)aCc>aAc p.T410N NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 410 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AACTTCTCAACCGACTTCTAC 0.602000 8 43 0.000274275 0.000291361 0.307466 1 0 POU4F1 5457 broad.mit.edu 37 13 79176020 79176020 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr13:79176020C>A ENST00000377208.5 - 2 1001 c.790G>T c.(790-792)Gac>Tac p.D264Y RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 264 POU-specific. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) TCGCGCGGGTCCGTGTCCGAG 0.766000 3 3 0.000602214 0.000635562 0.184627 1 0 YLPM1 56252 broad.mit.edu 37 14 75230646 75230646 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr14:75230646G>T ENST00000325680.7 + 1 578 c.454G>T c.(454-456)Gtg>Ttg p.V152L YLPM1_ENST00000552421.1_Missense_Mutation_p.V152L|YLPM1_ENST00000238571.3_Missense_Mutation_p.V152L NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 152 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) ATCTCCCCCTGTGCCGCCTGG 0.607000 17 38 3.52763e-06 4.08197e-06 0.520397 1 0 DCDC1 341019 broad.mit.edu 37 11 30938525 30938525 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:30938525G>T ENST00000597505.1 - 24 3343 c.3344C>A c.(3343-3345)cCc>cAc p.P1115H DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.P194H P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GGCATACCTGGGAAGTGTGTG 0.423000 31 75 6.5261e-18 1.02644e-17 0.840704 1 0 PTPRN 5798 broad.mit.edu 37 2 220156202 220156202 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:220156202C>A ENST00000295718.2 - 20 2959 c.2719G>T c.(2719-2721)Gtg>Ttg p.V907L PTPRN_ENST00000423636.2_Missense_Mutation_p.V817L|PTPRN_ENST00000409251.3_Missense_Mutation_p.V878L|PTPRN_ENST00000497977.1_5'UTR NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 907 Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CTGCAGTGCACGATGATGGGG 0.592000 20 55 7.01153e-11 9.46557e-11 0.717897 1 0 FAM3D 131177 broad.mit.edu 37 3 58620041 58620041 + Missense_Mutation SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr3:58620041C>G ENST00000358781.2 - 10 950 c.640G>C c.(640-642)Gag>Cag p.E214Q RP11-475O23.3_ENST00000464125.1_RNA NM_138805.2 NP_620160.1 Q96BQ1 FAM3D_HUMAN family with sequence similarity 3, member D 214 negative regulation of insulin secretion extracellular region cytokine activity large_intestine(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) CCCTCCATCTCCAGCAGCTCT 0.537000 20 60 0 0 0.654019 0 0 ZNF808 388558 broad.mit.edu 37 19 53050786 53050786 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:53050786G>T ENST00000359798.4 + 4 265 c.85G>T c.(85-87)Gtg>Ttg p.V29L NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) TTTCAGGGATGTGGCTATAGA 0.428000 45 83 6.34439e-16 9.60553e-16 0.870114 1 0 MUC16 94025 broad.mit.edu 37 19 9067164 9067164 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:9067164C>A ENST00000397910.4 - 3 20485 c.20282G>T c.(20281-20283)aGg>aTg p.R6761M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6763 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 TGTTCCTGCCCTGGAGGATGT 0.478000 87 87 4.98208e-43 1.01522e-42 0.870114 1 0 CDH12 1010 broad.mit.edu 37 5 21802310 21802310 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:21802310C>A ENST00000382254.1 - 10 2308 c.1222G>T c.(1222-1224)Gct>Tct p.A408S CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.A408S|CDH12_ENST00000522262.1_Missense_Mutation_p.A368S NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 408 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AGGTCTTGAGCAGTGACAGCG 0.458000 HNSCC(59;0.17) 19 27 1.37657e-19 2.28722e-19 0.608945 1 0 ITIH6 347365 broad.mit.edu 37 X 54785081 54785081 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:54785081C>A ENST00000218436.6 - 8 1455 c.1426G>T c.(1426-1428)Gat>Tat p.D476Y NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 476 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity AGACGCACATCTGCCAGCAGA 0.592000 16 23 1.33834e-09 1.72757e-09 0.557998 1 0 PIK3R5 23533 broad.mit.edu 37 17 8790490 8790490 + Missense_Mutation SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr17:8790490A>T ENST00000447110.1 - 12 1952 c.1828T>A c.(1828-1830)Tac>Aac p.Y610N PIK3R5_ENST00000581552.1_Missense_Mutation_p.Y610N|PIK3R5_ENST00000584803.1_Missense_Mutation_p.Y610N NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 610 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 ATGCCGAGGTAGTGGGAGATG 0.612000 11 57 0 0 0.411799 0 0 MYT1L 23040 broad.mit.edu 37 2 1906868 1906868 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:1906868G>T ENST00000399161.2 - 14 2763 c.2016C>A c.(2014-2016)ccC>ccA p.P672P MYT1L_ENST00000428368.2_Silent_p.P670P NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 672 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CATATCCTTTGGGGGATATAT 0.418000 24 59 4.15321e-07 5.0588e-07 0.740014 1 0 COL26A1 136227 broad.mit.edu 37 7 101183182 101183182 + RNA SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr7:101183182G>T ENST00000313669.7 + 0 648 COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 AGGTCCTCCTGCTAGAAGCAG 0.622000 8 30 1.58986e-06 1.85962e-06 0.361761 1 0 CDK8 1024 broad.mit.edu 37 13 26975642 26975642 + Nonsense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr13:26975642G>T ENST00000381527.3 + 12 1653 c.1150G>T c.(1150-1152)Gga>Tga p.G384* CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) CCACACTAATGGAACTGGCCA 0.478000 15 20 1.3612e-06 1.60374e-06 0.479597 1 0 TTLL4 9654 broad.mit.edu 37 2 219614034 219614034 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:219614034C>T ENST00000392102.1 + 14 2999 c.2659C>T c.(2659-2661)Cat>Tat p.H887Y TTLL4_ENST00000258398.4_Missense_Mutation_p.H887Y|TTLL4_ENST00000457313.1_Missense_Mutation_p.H722Y|TTLL4_ENST00000442769.1_Missense_Mutation_p.H823Y NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 887 TTL. protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CTATAGCTGCCATGAACTCTT 0.517000 29 39 0 0 0.750413 0 0 PSTPIP1 9051 broad.mit.edu 37 15 77325276 77325276 + Silent SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr15:77325276C>A ENST00000558012.1 + 12 1401 c.912C>A c.(910-912)tcC>tcA p.S304S PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Silent_p.S304S|PSTPIP1_ENST00000267939.5_Intron|PSTPIP1_ENST00000559295.1_Intron NM_003978.3 NP_003969.2 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting protein 1 304 cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 TACAGCCGTCCTGCGGCATGA 0.652000 6 7 3.09899e-07 3.78895e-07 0.307466 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553781 140553781 + Silent SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:140553781C>T ENST00000231137.3 + 1 1539 c.1365C>T c.(1363-1365)tcC>tcT p.S455S NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 455 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCAAACCTCCTACACCCTGT 0.602000 52 93 0 0 0.870114 0 0 DYRK4 8798 broad.mit.edu 37 12 4708299 4708299 + Silent SNP G G A rs138577409 byFrequency TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr12:4708299G>A ENST00000540757.2 + 7 826 c.666G>A c.(664-666)tcG>tcA p.S222S DYRK4_ENST00000010132.5_Silent_p.S222S|DYRK4_ENST00000543431.1_Silent_p.S222S NM_003845.1 NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 222 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) AGATGCTTTCGGTAGAGAAAA 0.463000 16 90 0 0 0.575678 0 0 POTEH 23784 broad.mit.edu 37 22 16287673 16287673 + Missense_Mutation SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr22:16287673C>G ENST00000343518.6 - 1 264 c.213G>C c.(211-213)tgG>tgC p.W71C NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 71 p.W71C(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TCCCCCTGCACCAGGGGAAGC 0.582000 5 222 0 0 0.435327 0 0 CLPTM1 1209 broad.mit.edu 37 19 45477801 45477801 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:45477801G>T ENST00000541297.2 + 4 838 c.373G>T c.(373-375)Ggc>Tgc p.G125C CLPTM1_ENST00000546079.1_Missense_Mutation_p.G37C|CLPTM1_ENST00000337392.5_Missense_Mutation_p.G139C O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 139 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) CTGGACTAGCGGCGAGAACTC 0.572000 22 42 2.79863e-10 3.76248e-10 0.681144 1 0 OR4K1 79544 broad.mit.edu 37 14 20404272 20404272 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr14:20404272G>T ENST00000285600.4 + 1 506 c.447G>T c.(445-447)tgG>tgT p.W149C NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) CTATTTCCTGGGCGGTGGGCG 0.458000 32 57 2.85442e-18 4.51137e-18 0.750413 1 0 ULK4 54986 broad.mit.edu 37 3 41949337 41949337 + Splice_Site SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr3:41949337C>A ENST00000301831.4 - 12 1644 c.1182_splice c.e12+1 p.K394_splice ULK4_ENST00000420927.1_Splice_Site_p.K394_splice NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 394 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) GTCTGCTCACCTTGGTCAGAG 0.388000 6 40 5.18039e-06 5.91002e-06 0.278610 1 0 TBX5 6910 broad.mit.edu 37 12 114793838 114793838 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr12:114793838G>T ENST00000310346.4 - 9 1722 c.1056C>A c.(1054-1056)tcC>tcA p.S352S TBX5_ENST00000349716.5_Silent_p.S302S|TBX5_ENST00000405440.2_Silent_p.S352S NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 352 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) AGCGGTAGAAGGAATCTTCTT 0.552000 43 96 2.74695e-27 5.05689e-27 0.870114 1 0 ANKRD36BP1 84832 broad.mit.edu 37 1 168215939 168215939 + RNA SNP A A G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:168215939A>G ENST00000358576.4 - 0 642 NR_026844.1 lung(1) 1 CTACGATGGTATGATTCCATT 0.423000 9 12 0 0 0.307466 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814044 106814044 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr8:106814044G>T ENST00000407775.2 + 8 1984 c.1734G>T c.(1732-1734)atG>atT p.M578I ZFPM2_ENST00000378472.4_Missense_Mutation_p.M309I|ZFPM2_ENST00000517361.1_Missense_Mutation_p.M446I|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.M446I NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 578 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GGCAGCAGATGGCTAAGTCCC 0.453000 83 97 1.26289e-39 2.54147e-39 0.870114 1 0 RBM19 9904 broad.mit.edu 37 12 114380154 114380154 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr12:114380154C>A ENST00000545145.2 - 14 1790 c.1712G>T c.(1711-1713)gGg>gTg p.G571V RBM19_ENST00000261741.5_Missense_Mutation_p.G571V|RBM19_ENST00000392561.3_Missense_Mutation_p.G571V NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 571 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) CAGGCTGACCCCGTTGTCTAT 0.622000 9 31 3.86212e-05 4.24179e-05 0.361761 1 0 SACS 26278 broad.mit.edu 37 13 23909311 23909311 + Nonsense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr13:23909311C>A ENST00000382298.3 - 10 9292 c.8704G>T c.(8704-8706)Gga>Tga p.G2902* SACS_ENST00000402364.1_Nonsense_Mutation_p.G2152*|SACS_ENST00000382292.3_Nonsense_Mutation_p.G2902* NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2902 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ACACCAACTCCATTATCATCA 0.418000 15 50 6.72482e-11 9.1165e-11 0.479597 1 0 SLC7A14 57709 broad.mit.edu 37 3 170198557 170198557 + Missense_Mutation SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr3:170198557T>A ENST00000231706.4 - 7 1829 c.1514A>T c.(1513-1515)aAc>aTc p.N505I CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 505 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GTGGTTGACGTTGTAGGTTGA 0.468000 113 78 0 0 0.870114 0 0 SASH1 23328 broad.mit.edu 37 6 148865380 148865380 + Missense_Mutation SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr6:148865380C>G ENST00000367467.3 + 18 3249 c.2774C>G c.(2773-2775)cCt>cGt p.P925R NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 925 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CTGTCACCCCCTCAGTGTTTG 0.512000 15 29 0 0 0.479597 0 0 PKD1L2 114780 broad.mit.edu 37 16 81253874 81253874 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr16:81253874G>T ENST00000599697.1 - 1 101 c.102C>A c.(100-102)gcC>gcA p.A34A PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 34 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CATCTCTGAAGGCCACCTGGC 0.562000 17 58 6.94344e-10 9.18235e-10 0.539581 1 0 TTC29 83894 broad.mit.edu 37 4 147724697 147724697 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr4:147724697G>T ENST00000513335.1 - 12 1519 c.1320C>A c.(1318-1320)aaC>aaA p.N440K TTC29_ENST00000506019.1_5'UTR|TTC29_ENST00000398886.4_Missense_Mutation_p.N440K|TTC29_ENST00000325106.4_Missense_Mutation_p.N414K Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 414 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) ACTCTATATAGTTGTTCACTG 0.438000 4 6 0.00198382 0.002047 0.248553 1 0 CUBN 8029 broad.mit.edu 37 10 16962128 16962128 + Missense_Mutation SNP C C A rs146703141 TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr10:16962128C>A ENST00000377833.4 - 44 6720 c.6655G>T c.(6655-6657)Ggc>Tgc p.G2219C NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2219 CUB 16. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TAGACGTTGCCCCCACAGGCT 0.478000 8 38 0.000274275 0.000291361 0.307466 1 0 YJEFN3 374887 broad.mit.edu 37 19 19645898 19645898 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:19645898G>T ENST00000555938.1 + 5 383 c.371G>T c.(370-372)gGc>gTc p.G124V YJEFN3_ENST00000436027.4_Missense_Mutation_p.G75V|YJEFN3_ENST00000514277.3_Missense_Mutation_p.G125V GTCGTGTGTGGCCCGGAGCAG 0.647000 92 156 5.11573e-52 1.0763e-51 0.870114 1 0 PCDH9 5101 broad.mit.edu 37 13 67205545 67205545 + Splice_Site SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr13:67205545T>A ENST00000544246.1 - 4 3830 c.e4-2 PCDH9_ENST00000456367.1_Splice_Site|PCDH9_ENST00000377865.2_Splice_Site|PCDH9_ENST00000328454.5_Splice_Site NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GCGCTGCGACTACAAAGAAGA 0.478000 6 12 0 0 0.217242 0 0 CDH23 64072 broad.mit.edu 37 10 73567647 73567647 + Silent SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr10:73567647C>T ENST00000224721.6 + 59 8625 c.8620C>T c.(8620-8622)Ctg>Ttg p.L2874L CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.L629L NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2869 Cadherin 27. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GATCCAGGTGCTGGCCCTGGA 0.607000 3 6 0 0 0.150653 0 0 CD34 947 broad.mit.edu 37 1 208061141 208061141 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:208061141G>T ENST00000310833.7 - 8 1421 c.1100C>A c.(1099-1101)gCc>gAc p.A367D CD34_ENST00000485761.1_Intron|CD34_ENST00000537704.1_Missense_Mutation_p.A232D|CD34_ENST00000356522.4_3'UTR|CD34_ENST00000367036.3_Missense_Mutation_p.A209D NM_001025109.1 NP_001020280.1 P28906 CD34_HUMAN CD34 molecule 367 A -> S (in dbSNP:rs28362497). cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 TCTGGAGGTGGCCTGGCCGGT 0.622000 34 110 3.21399e-22 5.59857e-22 0.804634 1 0 ITGAX 3687 broad.mit.edu 37 16 31383064 31383064 + Missense_Mutation SNP G G C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr16:31383064G>C ENST00000268296.4 + 17 2240 c.2119G>C c.(2119-2121)Ggg>Cgg p.G707R ITGAX_ENST00000562522.1_Missense_Mutation_p.G707R NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 707 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CCGAGTCCTCGGGCTGAAGGC 0.652000 17 43 0 0 0.557998 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719188 140719188 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:140719188G>T ENST00000394576.2 + 1 650 c.650G>T c.(649-651)gGg>gTg p.G217V PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTTCTGATGGGGGTGACCCA 0.587000 11 67 0.0692343 0.0700997 0.361761 1 0 GRM3 2913 broad.mit.edu 37 7 86415619 86415619 + Missense_Mutation SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr7:86415619T>A ENST00000361669.2 + 3 1610 c.511T>A c.(511-513)Tac>Aac p.Y171N AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.Y43N|GRM3_ENST00000439827.1_Missense_Mutation_p.Y171N|GRM3_ENST00000394720.2_Missense_Mutation_p.Y169N NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 171 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TCAGATCAGCTACGCATCCAC 0.552000 61 91 0 0 0.870114 0 0 GDF2 2658 broad.mit.edu 37 10 48416617 48416617 + Missense_Mutation SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr10:48416617T>A ENST00000249598.1 - 1 236 c.77A>T c.(76-78)cAg>cTg p.Q26L NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 26 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 TCCCCAGCTCTGCAGTGGCTT 0.652000 8 13 0 0 0.361761 0 0 PAGE1 8712 broad.mit.edu 37 X 49458770 49458770 + Missense_Mutation SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:49458770G>A ENST00000376150.3 - 3 230 c.98C>T c.(97-99)tCa>tTa p.S33L NM_003785.3 NP_003776.2 O75459 GAGB1_HUMAN P antigen family, member 1 (prostate associated) 33 cellular defense response endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 7 Ovarian(276;0.236) TTGAGTTGGTGATTCCACTTC 0.448000 4 14 0 0 0.184627 0 0 IGKV1-16 28938 broad.mit.edu 37 2 89399501 89399501 + RNA SNP A A G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:89399501A>G ENST00000479981.1 - 0 228 TAGATCAGGGACTTAGGGGCT 0.512000 23 106 0 0 0.760397 0 0 NLRP5 126206 broad.mit.edu 37 19 56539106 56539106 + Missense_Mutation SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:56539106G>A ENST00000390649.3 + 7 1507 c.1507G>A c.(1507-1509)Gcc>Acc p.A503T NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 503 NACHT. mitochondrion|nucleolus ATP binding p.A503T(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AGGCCTGCACGCCGCTTTTGT 0.632000 15 19 0 0 0.457914 0 0 PDE10A 10846 broad.mit.edu 37 6 165957053 165957053 + Nonsense_Mutation SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr6:165957053A>T ENST00000366882.1 - 3 195 c.41T>A c.(40-42)tTg>tAg p.L14* PDE10A_ENST00000354448.4_Nonsense_Mutation_p.L14*|PDE10A_ENST00000539869.2_Nonsense_Mutation_p.L24* Q9Y233 PDE10_HUMAN phosphodiesterase 10A 14 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TTCATCTGTCAAACCTGTAAA 0.358000 3 11 0 0 0.115264 0 0 TRIM35 23087 broad.mit.edu 37 8 27151801 27151801 + Silent SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr8:27151801C>A ENST00000305364.4 - 3 641 c.558G>T c.(556-558)cgG>cgT p.R186R TRIM35_ENST00000521253.1_Silent_p.R154R NM_171982.3 NP_741983.2 Q9UPQ4 TRI35_HUMAN tripartite motif containing 35 186 apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) CCTGCCGGATCCGGCCTTCCA 0.562000 19 44 7.87624e-14 1.14951e-13 0.639603 1 0 DNAH9 1770 broad.mit.edu 37 17 11651071 11651071 + Nonsense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr17:11651071G>T ENST00000262442.3 + 32 6666 c.6598G>T c.(6598-6600)Gaa>Taa p.E2200* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E2200* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2200 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGCCACAGGAGAATGGAAGGA 0.522000 21 52 3.83957e-06 4.42712e-06 0.639603 1 0 STON2 85439 broad.mit.edu 37 14 81743579 81743579 + Silent SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr14:81743579C>T ENST00000555447.1 - 6 2488 c.2076G>A c.(2074-2076)acG>acA p.T692T STON2_ENST00000267540.2_Silent_p.T692T NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 692 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CACTTGTGGCCGTCCTGAGTG 0.562000 71 108 0 0 0.870114 0 0 SLC4A11 83959 broad.mit.edu 37 20 3208951 3208951 + Missense_Mutation SNP T T C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr20:3208951T>C ENST00000380059.3 - 19 2742 c.2641A>G c.(2641-2643)Atg>Gtg p.M881V SLC4A11_ENST00000380056.3_Missense_Mutation_p.M854V|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.M838V NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 854 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 ATCATCTTCATGTAGGGCAGG 0.607000 16 60 0 0 0.557998 0 0 ITPR2 3709 broad.mit.edu 37 12 26750046 26750046 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr12:26750046C>A ENST00000381340.3 - 31 4440 c.4024G>T c.(4024-4026)Gtg>Ttg p.V1342L NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1342 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AATATCAGCACGTCTTCACCC 0.418000 53 128 1.84395e-34 3.6879e-34 0.870114 1 0 DPY19L3 147991 broad.mit.edu 37 19 32902151 32902151 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:32902151C>T ENST00000342179.5 + 3 325 c.110C>T c.(109-111)aCc>aTc p.T37I DPY19L3_ENST00000587077.1_Missense_Mutation_p.T37I|DPY19L3_ENST00000586987.1_Missense_Mutation_p.T37I|DPY19L3_ENST00000392250.2_Missense_Mutation_p.T37I NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 37 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) AAAGGTTGTACCAGTAGAAGA 0.348000 18 37 0 0 0.539581 0 0 POTEA 340441 broad.mit.edu 37 8 43172496 43172496 + RNA SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr8:43172496G>A ENST00000522175.2 + 0 839 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGCATCTGCAGAAAGTGACTC 0.299000 35 61 0 0 0.827153 0 0 CREB3L2 64764 broad.mit.edu 37 7 137569837 137569837 + Missense_Mutation SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr7:137569837C>G ENST00000330387.6 - 10 1525 c.1174G>C c.(1174-1176)Ggc>Cgc p.G392R CREB3L2_ENST00000456390.1_Missense_Mutation_p.G392R NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 392 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 AAGAAGCTGCCGAATGCAACG 0.582000 T FUS fibromyxoid sarcoma 12 29 0 0 0.435327 0 0 BOD1L1 259282 broad.mit.edu 37 4 13601827 13601827 + Missense_Mutation SNP C C A rs144300104 TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr4:13601827C>A ENST00000040738.5 - 10 6832 c.6697G>T c.(6697-6699)Ggt>Tgt p.G2233C NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2233 DNA binding ACAACTACACCGGAAACAGAA 0.488000 5 20 0.0215528 0.0219594 0.217242 1 0 FCGR3B 2215 broad.mit.edu 37 1 161600164 161600164 + Missense_Mutation SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:161600164G>A ENST00000294800.3 - 2 328 c.55C>T c.(55-57)Cgg>Tgg p.R19W FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Missense_Mutation_p.R19W|FCGR3B_ENST00000367964.2_Missense_Mutation_p.R19W|FCGR3B_ENST00000531221.1_Missense_Mutation_p.R55W NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 19 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCACCAGTCCGCATGCCAGCT 0.438000 14 96 0 0 0.592651 0 0 CDT1 81620 broad.mit.edu 37 16 88872177 88872177 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr16:88872177G>T ENST00000301019.4 + 5 1351 c.732G>T c.(730-732)ccG>ccT p.P244P NM_030928.3 NP_112190.2 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 1 244 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(80;0.0476) CCGTGTACCCGGCCTCCTACC 0.632000 5 34 0.00116845 0.00122517 0.217242 1 0 PORCN 64840 broad.mit.edu 37 X 48372650 48372650 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:48372650G>T ENST00000367574.4 + 7 1001 c.496G>T c.(496-498)Gct>Tct p.A166S PORCN_ENST00000361988.3_Missense_Mutation_p.A237S|PORCN_ENST00000537758.1_Missense_Mutation_p.A248S|PORCN_ENST00000326194.6_Missense_Mutation_p.A248S|PORCN_ENST00000359882.4_Missense_Mutation_p.A242S|PORCN_ENST00000355961.4_Missense_Mutation_p.A243S|PORCN_ENST00000355092.3_Missense_Mutation_p.A242S Q9H237 PORCN_HUMAN porcupine homolog (Drosophila) 248 Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTACGAGAGTGCTGTCTCCTT 0.587000 43 90 8.44121e-28 1.56283e-27 0.870114 1 0 TEKT4P2 100132288 broad.mit.edu 37 21 9907382 9907382 + RNA SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr21:9907382G>T ENST00000416067.1 - 0 1410 NR_037872.1|NR_038327.1 CCTTGAGGTTGCGCAGGGACT 0.582000 7 5 0.00198382 0.002047 0.248553 1 0 CES5A 221223 broad.mit.edu 37 16 55905674 55905674 + Splice_Site SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr16:55905674A>T ENST00000521992.1 - 4 512 c.365_splice c.e4-1 p.C123_splice CES5A_ENST00000520435.1_Splice_Site_p.C94_splice|CES5A_ENST00000518005.1_5'UTR|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000319165.9_Splice_Site_p.C94_splice|CES5A_ENST00000290567.9_Splice_Site_p.C94_splice NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 94 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TTCTGGAGGCACCTTGGAGAA 0.512000 10 23 0 0 0.387290 0 0 PEX5L 51555 broad.mit.edu 37 3 179537734 179537734 + Missense_Mutation SNP C C T rs149066916 TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr3:179537734C>T ENST00000467460.1 - 9 1183 c.853G>A c.(853-855)Gca>Aca p.A285T PEX5L_ENST00000392649.3_Missense_Mutation_p.A177T|PEX5L_ENST00000476138.1_Missense_Mutation_p.A242T|PEX5L_ENST00000485199.1_Missense_Mutation_p.A250T|PEX5L_ENST00000472994.1_Missense_Mutation_p.A226T|PEX5L_ENST00000464614.1_Missense_Mutation_p.A177T|PEX5L_ENST00000263962.8_Missense_Mutation_p.A283T|PEX5L_ENST00000465751.1_Missense_Mutation_p.A261T|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A93T NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 285 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TCCCATTCTGCTTGCATCTTA 0.443000 42 26 0 0 0.864702 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44506050 44506050 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr20:44506050G>T ENST00000255152.2 + 2 1062 c.853G>T c.(853-855)Gac>Tac p.D285Y ZSWIM3_ENST00000454862.2_Missense_Mutation_p.D279Y NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 285 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) GGTCTTTGTGGACCCTTCATT 0.532000 11 45 3.07112e-06 3.56646e-06 0.387290 1 0 HDAC6 10013 broad.mit.edu 37 X 48681414 48681414 + Missense_Mutation SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:48681414A>T ENST00000334136.5 + 25 2783 c.2605A>T c.(2605-2607)Aca>Tca p.T869S HDAC6_ENST00000444343.2_Missense_Mutation_p.T883S|HDAC6_ENST00000376619.2_Missense_Mutation_p.T869S Q9UBN7 HDAC6_HUMAN histone deacetylase 6 869 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) GCGGATGACCACACGAGAAAA 0.532000 20 27 0 0 0.639603 0 0 NOS1 4842 broad.mit.edu 37 12 117660627 117660627 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr12:117660627G>T ENST00000317775.6 - 26 4553 c.3868C>A c.(3868-3870)Caa>Aaa p.Q1290K NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.Q1324K NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1290 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) ATCTTGGATTGCCGGCACCCG 0.572000 33 61 6.53348e-20 1.09681e-19 0.788014 1 0 STK36 27148 broad.mit.edu 37 2 219538381 219538381 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:219538381C>T ENST00000295709.3 + 3 397 c.118C>T c.(118-120)Cgc>Tgc p.R40C STK36_ENST00000392106.2_Missense_Mutation_p.R40C|STK36_ENST00000440309.1_Missense_Mutation_p.R40C|STK36_ENST00000392105.3_Missense_Mutation_p.R40C NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 40 Protein kinase. cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) AAAATTGGGGCGCTCAGAGAA 0.458000 8 26 0 0 0.335167 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788613 140788613 + Silent SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:140788613C>A ENST00000520790.1 + 1 844 c.844C>A c.(844-846)Cga>Aga p.R282R PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTACTACTTCCGAAGCACTGC 0.428000 30 47 1.99505e-19 3.26463e-19 0.760397 1 0 ARHGAP6 395 broad.mit.edu 37 X 11187775 11187775 + Missense_Mutation SNP G G C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:11187775G>C ENST00000337414.4 - 9 2531 c.1659C>G c.(1657-1659)aaC>aaG p.N553K ARHGAP6_ENST00000303025.6_Missense_Mutation_p.N350K|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.N553K|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.N362K|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.N585K|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.N378K|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.N350K NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 553 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 TGGTGGCTAAGTTTAGAGATG 0.443000 41 74 0 0 0.870114 0 0 DFNB59 494513 broad.mit.edu 37 2 179320756 179320756 + Missense_Mutation SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:179320756A>T ENST00000409117.3 + 4 783 c.427A>T c.(427-429)Agc>Tgc p.S143C DFNB59_ENST00000375129.4_Missense_Mutation_p.S143C|DFNB59_ENST00000605419.1_3'UTR NM_001042702.3 NP_001036167.1 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 143 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) CTTTGACCACAGCTTGATACG 0.388000 10 40 0 0 0.387290 0 0 LRP1B 53353 broad.mit.edu 37 2 141457845 141457845 + Nonsense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:141457845C>T ENST00000389484.3 - 41 7744 c.6773G>A c.(6772-6774)tGg>tAg p.W2258* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2258 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCTGTCTTCCCAGTTGTCTTT 0.313000 TSP Lung(27;0.18) 13 30 0 0 0.435327 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617914 77617914 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr8:77617914G>T ENST00000521891.2 + 2 2039 c.1591G>T c.(1591-1593)Gat>Tat p.D531Y ZFHX4_ENST00000455469.2_Missense_Mutation_p.D531Y|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D531Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D531Y NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 531 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GACTGTTTCTGATGACACAGA 0.448000 HNSCC(33;0.089) 20 27 7.87624e-14 1.14951e-13 0.639603 1 0 KCNC2 3747 broad.mit.edu 37 12 75444384 75444384 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr12:75444384C>T ENST00000549446.1 - 3 2081 c.1401G>A c.(1399-1401)atG>atA p.M467I KCNC2_ENST00000548513.1_Missense_Mutation_p.M467I|KCNC2_ENST00000341669.3_Missense_Mutation_p.M467I|KCNC2_ENST00000393288.2_Missense_Mutation_p.M467I|KCNC2_ENST00000550433.1_Missense_Mutation_p.M467I|KCNC2_ENST00000350228.2_Missense_Mutation_p.M467I|KCNC2_ENST00000298972.1_Missense_Mutation_p.M467I|KCNC2_ENST00000540018.1_Missense_Mutation_p.M467I|KCNC2_ENST00000548243.1_5'UTR NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 467 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 CAGGCACTGGCATGGCTATTG 0.502000 14 32 0 0 0.500413 0 0 ABCB5 340273 broad.mit.edu 37 7 20721179 20721179 + Missense_Mutation SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr7:20721179C>G ENST00000404938.2 + 15 2411 c.1759C>G c.(1759-1761)Cga>Gga p.R587G ABCB5_ENST00000258738.6_Missense_Mutation_p.R142G NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 142 ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TTCTACTATTCGAAGTGCAGA 0.398000 26 35 0 0 0.706142 0 0 SPATA18 132671 broad.mit.edu 37 4 52945979 52945979 + Missense_Mutation SNP A A G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr4:52945979A>G ENST00000295213.4 + 9 1623 c.1249A>G c.(1249-1251)Agt>Ggt p.S417G SPATA18_ENST00000419395.2_Missense_Mutation_p.S385G NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 417 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) TTGCCTTCTCAGTGACTTCAT 0.423000 10 148 0 0 0.361761 0 0 C1orf173 127254 broad.mit.edu 37 1 75078419 75078419 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:75078419C>T ENST00000326665.5 - 9 1293 c.1075G>A c.(1075-1077)Gtg>Atg p.V359M RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.V162M NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 359 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AACCTGTTCACCTGCATCCCA 0.428000 10 19 0 0 0.361761 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119945465 119945465 + Silent SNP G G C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr8:119945465G>C ENST00000297350.4 - 2 483 c.105C>G c.(103-105)acC>acG p.T35T NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 35 apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) GCTGATGAGAGGTTTCTTCGT 0.483000 60 172 0 0 0.870114 0 0 WDR27 253769 broad.mit.edu 37 6 170065582 170065582 + Splice_Site SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr6:170065582C>A ENST00000333572.6 - 7 1302 c.783_splice c.e7+1 p.Q261_splice WDR27_ENST00000420344.2_Splice_Site_p.S176_splice|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Splice_Site_p.Q134_splice|WDR27_ENST00000448612.1_Splice_Site_p.Q261_splice A2RRH5 WDR27_HUMAN WD repeat domain 27 231 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) GCTGTCTCACCTGGCCGTCAG 0.473000 12 26 4.14922e-12 5.76973e-12 0.500413 1 0 SLC6A5 9152 broad.mit.edu 37 11 20622867 20622867 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:20622867G>T ENST00000525748.1 + 2 469 c.196G>T c.(196-198)Gac>Tac p.D66Y NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 66 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) CCAGTCAGCGGACGCGCGAGC 0.716000 6 9 0.00198382 0.002047 0.248553 1 0 GSDMD 79792 broad.mit.edu 37 8 144641958 144641958 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr8:144641958G>T ENST00000526406.1 + 6 1112 c.229G>T c.(229-231)Ggc>Tgc p.G77C GSDMD_ENST00000262580.4_Missense_Mutation_p.G77C|GSDMD_ENST00000533063.1_Missense_Mutation_p.G125C NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D 77 breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 CGTGCAGCGTGGCAGGAGCTT 0.687000 24 24 1.17739e-12 1.65141e-12 0.693898 1 0 EIF4E1B 253314 broad.mit.edu 37 5 176070154 176070154 + Silent SNP G G A rs143370383 by1000genomes TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:176070154G>A ENST00000318682.6 + 4 671 c.87G>A c.(85-87)acG>acA p.T29T EIF4E1B_ENST00000504597.1_Silent_p.T29T NM_001099408.1 NP_001092878.1 A6NMX2 I4E1B_HUMAN eukaryotic translation initiation factor 4E family member 1B 29 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity breast(1)|large_intestine(1)|lung(2)|pancreas(1) 5 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGAGAGGACGCCCACAGGAG 0.592000 7 42 0 0 0.307466 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162389 33162389 + RNA SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:33162389C>G ENST00000510327.1 - 0 346 CAGCTGCCAACACCAAGATTG 0.597000 14 14 0 0 0.435327 0 0 HNRNPA1L2 144983 broad.mit.edu 37 13 53217012 53217012 + Nonsense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr13:53217012G>T ENST00000342657.3 + 7 1458 c.385G>T c.(385-387)Gga>Tga p.G129* HNRNPA1L2_ENST00000357495.2_Nonsense_Mutation_p.G129*|HNRNPA1L2_ENST00000398039.1_Nonsense_Mutation_p.G129* NM_001011724.1 NP_001011724.1 Q32P51 RA1L2_HUMAN heterogeneous nuclear ribonucleoprotein A1-like 2 129 Globular B domain.|RRM 2. mRNA processing|mRNA transport|RNA splicing cytoplasm|spliceosomal complex nucleotide binding|RNA binding cervix(1)|large_intestine(1)|lung(5) 7 TGAACAGTATGGAAAAATTGA 0.398000 20 24 5.49717e-05 5.99691e-05 0.654019 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 12 26 1.5842e-08 1.96659e-08 0.435327 1 0 SCGB1A1 7356 broad.mit.edu 37 11 62189816 62189816 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:62189816C>A ENST00000534397.1 + 3 265 c.74C>A c.(73-75)gCt>gAt p.A25D SCGB1A1_ENST00000278282.2_Missense_Mutation_p.A60D|CTD-2531D15.4_ENST00000528983.1_RNA P11684 UTER_HUMAN secretoglobin, family 1A, member 1 (uteroglobin) 60 embryo implantation|signal transduction extracellular region binding|phospholipase A2 inhibitor activity lung(1) 1 GAGGCAGGGGCTCAGCTGAAG 0.522000 27 49 1.38854e-25 2.49937e-25 0.729181 1 0 TTC8 123016 broad.mit.edu 37 14 89337895 89337895 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr14:89337895G>T ENST00000338104.6 + 12 1152 c.1100G>T c.(1099-1101)cGg>cTg p.R367L TTC8_ENST00000380656.2_Missense_Mutation_p.R351L|TTC8_ENST00000346301.4_Missense_Mutation_p.R311L|TTC8_ENST00000354441.6_Missense_Mutation_p.R86L|TTC8_ENST00000358622.5_Missense_Mutation_p.R153L|TTC8_ENST00000536576.1_Missense_Mutation_p.R112L|TTC8_ENST00000345383.5_Missense_Mutation_p.R341L Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 377 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding p.R351Q(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TTGAAAAGGCGGCTGCTGCAG 0.363000 7 34 0.000157383 0.000169409 0.278610 1 0 ABCB5 340273 broad.mit.edu 37 7 20682890 20682890 + Missense_Mutation SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr7:20682890C>G ENST00000404938.2 + 6 1050 c.398C>G c.(397-399)gCa>gGa p.A133G NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 317 ABC transporter 1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 ATAACTGCAGCACGACAGACC 0.413000 12 16 0 0 0.435327 0 0 HFM1 164045 broad.mit.edu 37 1 91844039 91844039 + Splice_Site SNP T T C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:91844039T>C ENST00000370425.3 - 10 1257 c.e10-2 HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000294696.5_Splice_Site NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CCATTTTTCCTAGAGAGAAAA 0.308000 12 43 0 0 0.435327 0 0 USH1C 10083 broad.mit.edu 37 11 17531110 17531110 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:17531110G>T ENST00000005226.7 - 18 1805 c.1806C>A c.(1804-1806)ccC>ccA p.P602P USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 GGATGGGAATGGGGGGTGGAG 0.662000 5 14 2.17888e-05 2.41766e-05 0.335167 1 0 NALCN 259232 broad.mit.edu 37 13 101944371 101944371 + Missense_Mutation SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr13:101944371T>A ENST00000251127.6 - 9 1098 c.1017A>T c.(1015-1017)agA>agT p.R339S NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R339S NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 339 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TAGTGCTGCTTCTCGATCCCC 0.428000 8 30 0 0 0.361761 0 0 GRIK2 2898 broad.mit.edu 37 6 102134228 102134228 + Splice_Site SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr6:102134228G>A ENST00000369138.1 + 6 1441 c.951_splice c.e6+1 p.T317_splice GRIK2_ENST00000413795.1_Splice_Site_p.T317_splice|GRIK2_ENST00000369137.3_Splice_Site_p.T317_splice|GRIK2_ENST00000369134.4_Splice_Site_p.T268_splice|GRIK2_ENST00000358361.3_Splice_Site_p.T317_splice|GRIK2_ENST00000421544.1_Splice_Site_p.T317_splice|GRIK2_ENST00000318991.6_Splice_Site_p.T317_splice NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 317 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GATTTATGACGGTATGAATAC 0.383000 15 51 0 0 0.592651 0 0 GAB4 128954 broad.mit.edu 37 22 17450873 17450873 + Silent SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr22:17450873G>A ENST00000400588.1 - 4 1004 c.897C>T c.(895-897)caC>caT p.H299H GAB4_ENST00000523144.1_Intron NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 299 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) TGCCTCTGGTGTGGCCATGGG 0.597000 27 72 0 0 0.706142 0 0 OR10H5 284433 broad.mit.edu 37 19 15905792 15905792 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:15905792C>A ENST00000308940.8 + 1 1032 c.934C>A c.(934-936)Cca>Aca p.P312T NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 CAAACTCTTTCCACAGAACTG 0.488000 10 22 7.48243e-07 8.88025e-07 0.335167 1 0 KIF26A 26153 broad.mit.edu 37 14 104641579 104641579 + Silent SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr14:104641579C>T ENST00000315264.7 + 11 2415 c.2037C>T c.(2035-2037)atC>atT p.I679I KIF26A_ENST00000423312.2_Silent_p.I818I Q9ULI4 KI26A_HUMAN kinesin family member 26A 818 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) TGCCCATCATCCCTGCCCTGA 0.677000 16 24 0 0 0.639603 0 0 PKP2 5318 broad.mit.edu 37 12 33049529 33049529 + Missense_Mutation SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr12:33049529C>G ENST00000340811.4 - 1 245 c.137G>C c.(136-138)cGc>cCc p.R46P PKP2_ENST00000546741.1_5'UTR|PKP2_ENST00000070846.6_Missense_Mutation_p.R46P NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 46 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CTGGCCGCCGCGGCCGCTGCT 0.706000 2 4 0 0 0.150653 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220736 118220736 + Nonsense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:118220736G>T ENST00000402510.2 - 11 4456 c.4457C>A c.(4456-4458)tCg>tAg p.S1486* NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1486 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 ATACTTCTGCGAGGGAGGGGC 0.453000 8 9 5.18039e-06 5.91002e-06 0.278610 1 0 AKAP4 8852 broad.mit.edu 37 X 49957416 49957416 + Nonsense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:49957416C>A ENST00000376056.2 - 5 2071 c.1921G>T c.(1921-1923)Gaa>Taa p.E641* AKAP4_ENST00000376058.2_Nonsense_Mutation_p.E267*|AKAP4_ENST00000376064.3_Nonsense_Mutation_p.E641*|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Nonsense_Mutation_p.E650* Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 650 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) TTCTCACCTTCGCATGGATCC 0.463000 51 92 2.0833e-19 3.39191e-19 0.870114 1 0 ZBBX 79740 broad.mit.edu 37 3 167023682 167023682 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr3:167023682C>T ENST00000392766.2 - 17 1814 c.1474G>A c.(1474-1476)Gac>Aac p.D492N ZBBX_ENST00000392764.1_Missense_Mutation_p.D463N|ZBBX_ENST00000307529.5_Missense_Mutation_p.D492N|ZBBX_ENST00000392767.2_Missense_Mutation_p.D492N|ZBBX_ENST00000455345.2_Missense_Mutation_p.D492N NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 492 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTTTCAATGTCAGAAGAATAC 0.308000 12 9 0 0 0.457914 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166718 19166718 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:19166718C>A ENST00000375371.3 - 6 1916 c.1895G>T c.(1894-1896)tGc>tTc p.C632F NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 632 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGCCTGGCGGCAGAGGCAGGT 0.622000 22 41 9.04412e-07 1.06945e-06 0.681144 1 0 COL20A1 57642 broad.mit.edu 37 20 61959724 61959724 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr20:61959724C>A ENST00000422202.1 + 33 3762 c.3694C>A c.(3694-3696)Ccc>Acc p.P1232T COL20A1_ENST00000326996.6_Missense_Mutation_p.P1251T|COL20A1_ENST00000358894.6_Missense_Mutation_p.P1219T|COL20A1_ENST00000435874.1_Missense_Mutation_p.P1232T Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 1219 cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GAACACCAGGCCCCCCATGCC 0.667000 12 23 0.0167234 0.0170927 0.435327 1 0 ZNF275 10838 broad.mit.edu 37 X 152612488 152612488 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:152612488G>T ENST00000421401.3 + 4 522 c.345G>T c.(343-345)ctG>ctT p.L115L ZNF275_ENST00000370251.2_Silent_p.L115L|ZNF275_ENST00000370249.2_Silent_p.L62L|ZNF275_ENST00000440091.1_Silent_p.L145L NM_001080485.3 NP_001073954.3 A6NFS0 A6NFS0_HUMAN zinc finger protein 275 115 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTAAAGTCCTGCTTGTCCAGC 0.547000 22 13 4.59853e-10 6.13137e-10 0.693898 1 0 NOL4 8715 broad.mit.edu 37 18 31432876 31432876 + Missense_Mutation SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr18:31432876T>A ENST00000261592.5 - 11 2144 c.1847A>T c.(1846-1848)tAt>tTt p.Y616F NOL4_ENST00000535475.1_Missense_Mutation_p.Y397F|NOL4_ENST00000589544.1_Missense_Mutation_p.Y514F|NOL4_ENST00000269185.4_Missense_Mutation_p.Y400F|NOL4_ENST00000535384.1_Missense_Mutation_p.Y331F|NOL4_ENST00000538587.1_Missense_Mutation_p.Y542F NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 616 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TGATTCTCGATATCCTGCAAC 0.463000 31 53 0 0 0.796494 0 0 LCE3A 353142 broad.mit.edu 37 1 152595470 152595470 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:152595470C>A ENST00000335674.1 - 1 109 c.110G>T c.(109-111)gGg>gTg p.G37V NM_178431.1 NP_848518.1 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 37 keratinization endometrium(1)|lung(5) 6 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCCACAGCCCCCAGAGCTTGG 0.652000 32 34 1.06647e-15 1.59234e-15 0.788014 1 0 ZNF770 54989 broad.mit.edu 37 15 35274007 35274007 + Silent SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr15:35274007G>A ENST00000356321.4 - 3 1973 c.1629C>T c.(1627-1629)aaC>aaT p.N543N NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 543 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) TAGAAAGATTGTTGAAGTTTC 0.353000 17 50 0 0 0.520397 0 0 PAPSS1 9061 broad.mit.edu 37 4 108575897 108575897 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr4:108575897C>A ENST00000265174.4 - 8 1327 c.1055G>T c.(1054-1056)tGt>tTt p.C352F PAPSS1_ENST00000511304.1_5'UTR NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 352 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) CTGTCTGGCACAGCGCTCCTC 0.493000 28 94 1.74807e-11 2.39989e-11 0.750413 1 0 INSC 387755 broad.mit.edu 37 11 15199873 15199873 + Nonsense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:15199873C>A ENST00000379554.3 + 5 646 c.600C>A c.(598-600)tgC>tgA p.C200* INSC_ENST00000528567.1_Nonsense_Mutation_p.C153*|INSC_ENST00000530161.1_Nonsense_Mutation_p.C153*|INSC_ENST00000525218.1_Nonsense_Mutation_p.C153*|INSC_ENST00000424273.1_Nonsense_Mutation_p.C153*|INSC_ENST00000379556.3_Nonsense_Mutation_p.C153* NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 200 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 TCTTCAGGTGCCTTCAGGTTG 0.567000 26 62 2.2171e-23 3.90403e-23 0.740014 1 0 PTPRF 5792 broad.mit.edu 37 1 44010767 44010767 + Silent SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:44010767A>T ENST00000359947.4 + 3 361 c.21A>T c.(19-21)ccA>ccT p.P7P PTPRF_ENST00000438120.1_Silent_p.P7P|PTPRF_ENST00000372413.3_Silent_p.P7P|PTPRF_ENST00000372414.3_Silent_p.P7P NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 7 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGCCAGCCCCAGGGAGGACGA 0.602000 3 6 0 0 0.217242 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105885853 105885853 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:105885853C>A ENST00000393359.2 - 11 2708 c.2282G>T c.(2281-2283)tGg>tTg p.W761L TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.W761L Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 761 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CTGCACTGACCAGGTGTCAGG 0.652000 13 34 2.61681e-11 3.56239e-11 0.457914 1 0 KIAA1210 57481 broad.mit.edu 37 X 118221403 118221403 + Missense_Mutation SNP A A G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:118221403A>G ENST00000402510.2 - 11 3789 c.3790T>C c.(3790-3792)Tcc>Ccc p.S1264P NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1264 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CTCCCCAAGGACTGTAAAGGG 0.478000 9 4 0 0 0.307466 0 0 PCYT1B 9468 broad.mit.edu 37 X 24690741 24690741 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:24690741G>T ENST00000379145.1 - 1 53 c.9C>A c.(7-9)ggC>ggA p.G3G NM_001163264.1 NP_001156736.1 Q9Y5K3 PCY1B_HUMAN phosphate cytidylyltransferase 1, choline, beta 0 endoplasmic reticulum choline-phosphate cytidylyltransferase activity breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) ACTCCTGATGGCCTACCATGC 0.428000 36 80 4.21674e-32 8.28014e-32 0.870114 1 0 ITGAX 3687 broad.mit.edu 37 16 31383063 31383063 + Silent SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr16:31383063C>T ENST00000268296.4 + 17 2239 c.2118C>T c.(2116-2118)ctC>ctT p.L706L ITGAX_ENST00000562522.1_Silent_p.L706L NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 706 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TCCGAGTCCTCGGGCTGAAGG 0.652000 17 46 0 0 0.557998 0 0 WDPCP 51057 broad.mit.edu 37 2 63631450 63631450 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:63631450C>A ENST00000409120.1 - 4 4142 c.592G>T c.(592-594)Gcc>Tcc p.A198S WDPCP_ENST00000409199.1_Missense_Mutation_p.A198S|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000272321.7_Missense_Mutation_p.A390S|WDPCP_ENST00000398544.3_Missense_Mutation_p.A231S|WDPCP_ENST00000409562.3_Missense_Mutation_p.A390S O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector 390 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 AGCAGAATGGCACCACTTGGG 0.443000 19 49 2.39187e-15 3.54412e-15 0.575678 1 0 PIK3C2B 5287 broad.mit.edu 37 1 204416610 204416610 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:204416610C>A ENST00000367187.3 - 16 2999 c.2443G>T c.(2443-2445)Gac>Tac p.D815Y PIK3C2B_ENST00000424712.2_Missense_Mutation_p.D815Y NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 815 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TTGCGCTGGTCTTCTTCCCGG 0.552000 24 80 2.49675e-24 4.44476e-24 0.717897 1 0 RYR2 6262 broad.mit.edu 37 1 237608793 237608793 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:237608793C>A ENST00000366574.2 + 14 1580 c.1263C>A c.(1261-1263)agC>agA p.S421R RYR2_ENST00000360064.6_Missense_Mutation_p.S419R|RYR2_ENST00000542537.1_Missense_Mutation_p.S405R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 421 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTATCCGGAGCACAGTCTTCC 0.388000 37 33 2.87052e-16 4.38702e-16 0.812448 1 0 SCARF2 91179 broad.mit.edu 37 22 20780272 20780272 + Missense_Mutation SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr22:20780272T>A ENST00000405555.3 - 11 2061 c.1991A>T c.(1990-1992)aAg>aTg p.K664M SCARF2_ENST00000266214.5_Missense_Mutation_p.K669M NM_182895.2 NP_878315.1 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 664 Pro-rich. cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CCAGGACACCTTAGGCTTGGT 0.756000 4 29 0 0 0.307466 0 0 PRRX1 5396 broad.mit.edu 37 1 170695375 170695375 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:170695375C>A ENST00000239461.6 + 3 745 c.432C>A c.(430-432)aaC>aaA p.N144K PRRX1_ENST00000497230.2_Missense_Mutation_p.N144K|PRRX1_ENST00000367760.3_Missense_Mutation_p.N144K|PRRX1_ENST00000476867.2_3'UTR NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 144 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGTTTCAGAACCGAAGAGCCA 0.473000 12 31 4.36969e-10 5.85033e-10 0.435327 1 0 WNT3A 89780 broad.mit.edu 37 1 228238375 228238375 + Missense_Mutation SNP T T G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:228238375T>G ENST00000284523.1 + 3 410 c.332T>G c.(331-333)tTt>tGt p.F111C WNT3A_ENST00000366753.2_Missense_Mutation_p.F111C NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 111 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) GAGTCGGCCTTTGTCCACGCC 0.617000 20 51 0 0 0.608945 0 0 FRG1 2483 broad.mit.edu 37 4 190884267 190884267 + Missense_Mutation SNP G G A rs114973918 by1000genomes TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr4:190884267G>A ENST00000226798.4 + 9 982 c.760G>A c.(760-762)Gac>Aac p.D254N NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 254 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) ATTGAAAGCCGACAGATACTG 0.299000 10 21 0 0 0.435327 0 0 NID2 22795 broad.mit.edu 37 14 52520643 52520643 + Silent SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr14:52520643C>T ENST00000216286.5 - 5 1082 c.1083G>A c.(1081-1083)ttG>ttA p.L361L NID2_ENST00000541773.1_Silent_p.L308L NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 361 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TGTGAGGATCCAAGGTGGAAG 0.512000 17 58 0 0 0.639603 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58596565 58596565 + Silent SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:58596565G>A ENST00000240727.6 - 7 1419 c.1020C>T c.(1018-1020)gaC>gaT p.D340D ZSCAN18_ENST00000600404.1_Silent_p.D396D|ZSCAN18_ENST00000421612.2_Silent_p.D204D|ZSCAN18_ENST00000601144.1_Silent_p.D340D NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 340 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CGGACTCCGCGTCCTGGGGGT 0.716000 6 36 0 0 0.278610 0 0 SPINK7 84651 broad.mit.edu 37 5 147693707 147693707 + Silent SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:147693707C>A ENST00000274565.4 + 3 193 c.132C>A c.(130-132)ccC>ccA p.P44P SPINK7_ENST00000523535.1_Silent_p.P18P|SPINK7_ENST00000514394.1_3'UTR|RP11-373N22.3_ENST00000501695.3_RNA NM_032566.2 NP_115955.1 P58062 ISK7_HUMAN serine peptidase inhibitor, Kazal type 7 (putative) 44 Kazal-like. extracellular region protein binding|serine-type endopeptidase inhibitor activity large_intestine(2)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCCATCCCCTGCCCCATCA 0.478000 70 87 9.42754e-34 1.86251e-33 0.870114 1 0 POPDC3 64208 broad.mit.edu 37 6 105609350 105609350 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr6:105609350G>T ENST00000254765.3 - 2 713 c.435C>A c.(433-435)gcC>gcA p.A145A BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369122.3_RNA NM_022361.4 NP_071756.2 Q9HBV1 POPD3_HUMAN popeye domain containing 3 145 integral to membrane NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) TCCCCTGCATGGCATAACAGT 0.443000 16 65 1.00905e-13 1.46606e-13 0.575678 1 0 MACF1 23499 broad.mit.edu 37 1 39801556 39801556 + Missense_Mutation SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:39801556G>A ENST00000564288.1 + 37 10073 c.9296G>A c.(9295-9297)aGt>aAt p.S3099N MACF1_ENST00000567887.1_Missense_Mutation_p.S3136N|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S1539N|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S3104N Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3104 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGGGCCCAGAGTGAACCATTC 0.433000 6 30 0 0 0.248553 0 0 AQP8 343 broad.mit.edu 37 16 25228604 25228604 + Missense_Mutation SNP G G T rs147031036 byFrequency TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr16:25228604G>T ENST00000219660.5 + 2 223 c.98G>T c.(97-99)cGg>cTg p.R33L AQP8_ENST00000566125.1_Missense_Mutation_p.R27L NM_001169.2 NP_001160.2 O94778 AQP8_HUMAN aquaporin 8 33 cellular response to cAMP integral to plasma membrane water channel activity NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GBM - Glioblastoma multiforme(48;0.044) TGGTACGAACGGTTTGTGCAG 0.577000 103 221 1.84609e-46 3.80977e-46 0.870114 1 0 NBPF1 55672 broad.mit.edu 37 1 16902825 16902825 + Missense_Mutation SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:16902825G>A ENST00000430580.2 - 19 2943 c.2056C>T c.(2056-2058)Ctc>Ttc p.L686F NBPF1_ENST00000432949.1_Missense_Mutation_p.L144F|NBPF1_ENST00000287968.8_Missense_Mutation_p.L51F NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 686 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGTTCTTGGAGGTCCTGCCCC 0.582000 40 889 0 0 0.804634 0 0 PTPN5 84867 broad.mit.edu 37 11 18754225 18754225 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:18754225C>T ENST00000396170.1 - 12 2411 c.1147G>A c.(1147-1149)Gag>Aag p.E383K PTPN5_ENST00000477854.1_Missense_Mutation_p.E219K|PTPN5_ENST00000396168.1_Missense_Mutation_p.E391K|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000358540.2_Missense_Mutation_p.E415K|PTPN5_ENST00000396171.4_Missense_Mutation_p.E415K|PTPN5_ENST00000396167.2_Missense_Mutation_p.E383K NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 415 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 GCCACCTGCTCCTCCGGCCAA 0.577000 OREG0020824 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 109 0 0 0.870114 0 0 LCE2B 26239 broad.mit.edu 37 1 152659408 152659408 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:152659408C>A ENST00000368780.3 + 2 143 c.89C>A c.(88-90)cCt>cAt p.P30H LCE2B_ENST00000417924.2_Missense_Mutation_p.P30H NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 30 Cys-rich.|Pro-rich. keratinization endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AAGTGTCCCCCTAAATGCCTG 0.602000 59 187 4.37588e-27 8.01008e-27 0.870114 1 0 BCAP29 55973 broad.mit.edu 37 7 107254165 107254165 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr7:107254165G>T ENST00000379119.2 + 7 771 c.757G>T c.(757-759)Ggt>Tgt p.G253C BCAP29_ENST00000005259.4_Intron|BCAP29_ENST00000379117.2_Intron|BCAP29_ENST00000379121.2_Intron|BCAP29_ENST00000465919.1_Intron|BCAP29_ENST00000445771.2_Missense_Mutation_p.G253C|BCAP29_ENST00000494086.1_Intron NM_001008405.2 NP_001008405.1 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 176 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 AAAACAGACTGGTTCTAGAAA 0.378000 17 28 1.9806e-07 2.43073e-07 0.624587 1 0 ZNF275 10838 broad.mit.edu 37 X 152612494 152612494 + Silent SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:152612494C>G ENST00000421401.3 + 4 528 c.351C>G c.(349-351)gtC>gtG p.V117V ZNF275_ENST00000370251.2_Silent_p.V117V|ZNF275_ENST00000370249.2_Silent_p.V64V|ZNF275_ENST00000440091.1_Silent_p.V147V NM_001080485.3 NP_001073954.3 A6NFS0 A6NFS0_HUMAN zinc finger protein 275 117 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCTGCTTGTCCAGCACCAGA 0.537000 22 13 0 0 0.681144 0 0 TGM6 343641 broad.mit.edu 37 20 2397989 2397989 + Missense_Mutation SNP G G C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr20:2397989G>C ENST00000202625.2 + 10 1509 c.1448G>C c.(1447-1449)cGt>cCt p.R483P TGM6_ENST00000381423.1_Missense_Mutation_p.R483P NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 483 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) TGTCTCTGGCGTGACGACCTC 0.637000 14 33 0 0 0.457914 0 0 KLK15 55554 broad.mit.edu 37 19 51330362 51330362 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:51330362G>T ENST00000326856.4 - 4 379 c.250C>A c.(250-252)Caa>Aaa p.Q84K KLK15_ENST00000596931.1_Missense_Mutation_p.Q84K|KLK15_ENST00000416184.1_Missense_Mutation_p.Q85K|KLK15_ENST00000598239.1_Missense_Mutation_p.Q85K|KLK15_ENST00000301421.2_Missense_Mutation_p.Q85K NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 85 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) GTCCGTAGTTGCTCTGGGCCA 0.652000 25 139 7.26314e-15 1.06966e-14 0.717897 1 0 METTL13 51603 broad.mit.edu 37 1 171759642 171759642 + Nonsense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:171759642G>T ENST00000361735.3 + 5 1626 c.1360G>T c.(1360-1362)Gag>Tag p.E454* METTL13_ENST00000466643.1_Intron|METTL13_ENST00000362019.3_Nonsense_Mutation_p.E368*|METTL13_ENST00000367737.5_Nonsense_Mutation_p.E298*|METTL13_ENST00000458517.1_Nonsense_Mutation_p.E453* NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 454 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 TGCTGATGCGGAGGACCTCCC 0.537000 26 78 5.60225e-13 7.92633e-13 0.740014 1 0 POMT2 29954 broad.mit.edu 37 14 77767441 77767441 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr14:77767441G>T ENST00000261534.4 - 6 1010 c.808C>A c.(808-810)Ctt>Att p.L270I NM_013382.5 NP_037514.2 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 270 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) ACCAATGAAAGACTGAGGTCT 0.507000 OREG0022837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 204 3.28513e-13 4.66834e-13 0.667858 1 0 OR2A5 393046 broad.mit.edu 37 7 143748001 143748001 + Nonsense_Mutation SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr7:143748001T>A ENST00000408906.2 + 1 541 c.507T>A c.(505-507)tgT>tgA p.C169* NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TGCCCTTCTGTGGGCCCCATG 0.547000 65 100 0 0 0.870114 0 0 DHX34 9704 broad.mit.edu 37 19 47865873 47865873 + Nonsense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:47865873G>T ENST00000328771.4 + 6 1865 c.1516G>T c.(1516-1518)Gaa>Taa p.E506* DHX34_ENST00000471451.1_Intron NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 506 Helicase C-terminal. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CCTCTATGCCGAATCGGACTA 0.657000 13 28 1.5842e-08 1.96659e-08 0.435327 1 0 DOCK2 1794 broad.mit.edu 37 5 169454899 169454899 + Missense_Mutation SNP C C A rs148138145 byFrequency TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:169454899C>A ENST00000256935.8 + 34 3494 c.3414C>A c.(3412-3414)caC>caA p.H1138Q DOCK2_ENST00000540750.1_Missense_Mutation_p.H199Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.H630Q NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1138 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCTGGACCACGAGGTAGAAG 0.478000 37 49 4.14194e-30 7.98802e-30 0.859065 1 0 FUBP1 8880 broad.mit.edu 37 1 78433325 78433325 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:78433325C>T ENST00000370767.1 - 4 363 c.276G>A c.(274-276)atG>atA p.M92I FUBP1_ENST00000370768.2_Missense_Mutation_p.M92I|FUBP1_ENST00000436586.2_Missense_Mutation_p.M113I Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 92 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 GCTGCTGATGCATCGGTGGTA 0.284000 """F, N""" oligodendroglioma 17 38 0 0 0.592651 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634699 70634699 + Silent SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr14:70634699C>T ENST00000381269.2 - 2 1194 c.441G>A c.(439-441)gaG>gaA p.E147E SLC8A3_ENST00000356921.2_Silent_p.E147E|SLC8A3_ENST00000528359.1_Silent_p.E147E|SLC8A3_ENST00000357887.3_Silent_p.E147E|SLC8A3_ENST00000534137.1_Silent_p.E147E NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 147 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGAGGAGTATCTCAGGAGCAG 0.483000 13 60 0 0 0.457914 0 0 ENPP1 5167 broad.mit.edu 37 6 132190591 132190591 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr6:132190591G>T ENST00000360971.2 + 13 1387 c.1367G>T c.(1366-1368)cGa>cTa p.R456L NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 456 Phosphodiesterase. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CCTGCAGCTCGATTGAGACCC 0.353000 11 42 2.80697e-09 3.56651e-09 0.387290 1 0 SMYD4 114826 broad.mit.edu 37 17 1684657 1684657 + Missense_Mutation SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr17:1684657C>G ENST00000305513.7 - 11 2505 c.2338G>C c.(2338-2340)Gat>Cat p.D780H NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 780 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 TGGATTTCATCGTCCCATGGG 0.537000 11 46 0 0 0.411799 0 0 IGKV1-16 28938 broad.mit.edu 37 2 89399500 89399500 + RNA SNP G G C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:89399500G>C ENST00000479981.1 - 0 229 ATAGATCAGGGACTTAGGGGC 0.517000 21 106 0 0 0.740014 0 0 ITGA8 8516 broad.mit.edu 37 10 15559194 15559194 + Missense_Mutation SNP C C G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr10:15559194C>G ENST00000378076.3 - 30 3508 c.3155G>C c.(3154-3156)aGg>aCg p.R1052T NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 1052 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CAGCTGTTCCCTGTCGGTCAT 0.443000 15 35 0 0 0.557998 0 0 NPTX1 4884 broad.mit.edu 37 17 78445555 78445555 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr17:78445555C>T ENST00000306773.4 - 4 1211 c.1054G>A c.(1054-1056)Gtg>Atg p.V352M NM_002522.3 NP_002513.2 Q15818 NPTX1_HUMAN neuronal pentraxin I 352 Pentaxin. central nervous system development|synaptic transmission|transport transport vesicle metal ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1) 11 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) AGCACCAGCACGCCCTGGGGC 0.657000 11 42 0 0 0.411799 0 0 NPAS4 266743 broad.mit.edu 37 11 66191385 66191385 + Missense_Mutation SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:66191385A>T ENST00000311034.2 + 7 1200 c.1024A>T c.(1024-1026)Atg>Ttg p.M342L NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 342 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CACTCCGACCATGCTGCCCTC 0.572000 61 136 0 0 0.870114 0 0 MACF1 23499 broad.mit.edu 37 1 39853267 39853267 + Missense_Mutation SNP G G C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:39853267G>C ENST00000564288.1 + 58 15530 c.14753G>C c.(14752-14754)tGg>tCg p.W4918S MACF1_ENST00000567887.1_Missense_Mutation_p.W4955S|MACF1_ENST00000545844.1_Missense_Mutation_p.W2856S|MACF1_ENST00000317713.7_Missense_Mutation_p.W2856S|MACF1_ENST00000289893.4_Missense_Mutation_p.W3358S|MACF1_ENST00000539005.1_Missense_Mutation_p.W2835S|MACF1_ENST00000361689.2_Missense_Mutation_p.W2856S|MACF1_ENST00000372915.3_Missense_Mutation_p.W4923S Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 4923 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTTGTGCCATGGATAGAAGAT 0.443000 10 30 0 0 0.387290 0 0 ARID3C 138715 broad.mit.edu 37 9 34621488 34621488 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr9:34621488G>T ENST00000378909.2 - 7 1298 c.1206C>A c.(1204-1206)ccC>ccA p.P402P NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 402 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) GCCCTGTGGAGGGTGGGGGTG 0.622000 18 49 1.96895e-08 2.43488e-08 0.639603 1 0 ATM 472 broad.mit.edu 37 11 108200963 108200963 + Missense_Mutation SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:108200963G>A ENST00000278616.4 + 50 7715 c.7330G>A c.(7330-7332)Gag>Aag p.E2444K C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.E2444K NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2444 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GGTTCAGCGAGAGCTGGAGTT 0.363000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 10 19 0 0 0.387290 0 0 GJD2 57369 broad.mit.edu 37 15 35045156 35045156 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr15:35045156C>A ENST00000290374.4 - 2 965 c.489G>T c.(487-489)gaG>gaT p.E163D NM_020660.2 NP_065711.1 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 163 synaptic transmission connexon complex|integral to membrane gap junction channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) CTGGCTCTGTCTCCTTACTGG 0.517000 41 131 1.91693e-13 2.76038e-13 0.870114 1 0 ZSCAN1 284312 broad.mit.edu 37 19 58563979 58563979 + Missense_Mutation SNP G G A rs148775293 TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:58563979G>A ENST00000282326.1 + 5 834 c.587G>A c.(586-588)cGc>cAc p.R196H NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 196 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GAAGCGCCCCGCGCCCCTGGC 0.602000 9 42 0 0 0.411799 0 0 PDE2A 5138 broad.mit.edu 37 11 72295353 72295353 + Silent SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:72295353G>A ENST00000334456.5 - 19 1787 c.1542C>T c.(1540-1542)gtC>gtT p.V514V PDE2A_ENST00000444035.2_Silent_p.V505V|PDE2A_ENST00000418754.2_Silent_p.V399V|PDE2A_ENST00000376450.3_Silent_p.V258V|PDE2A_ENST00000544570.1_Silent_p.V507V|PDE2A_ENST00000540345.1_Silent_p.V505V NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 514 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CCACACCGATGACCTCTGGGG 0.632000 19 30 0 0 0.592651 0 0 INADL 10207 broad.mit.edu 37 1 62262980 62262980 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:62262980G>T ENST00000371158.2 + 11 1396 c.1282G>T c.(1282-1284)Ggt>Tgt p.G428C INADL_ENST00000316485.6_Missense_Mutation_p.G428C NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 428 PDZ 3. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GAACATTCAGGGTTTTGCCAA 0.403000 24 91 1.22384e-17 1.89724e-17 0.769981 1 0 ACSL1 2180 broad.mit.edu 37 4 185681610 185681610 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr4:185681610C>A ENST00000515030.1 - 18 2008 c.1683G>T c.(1681-1683)aaG>aaT p.K561N ACSL1_ENST00000507295.1_Missense_Mutation_p.K527N|ACSL1_ENST00000454703.2_Missense_Mutation_p.K390N|ACSL1_ENST00000437665.3_Missense_Mutation_p.K390N|ACSL1_ENST00000281455.2_Missense_Mutation_p.K561N|ACSL1_ENST00000513317.1_Missense_Mutation_p.K561N|ACSL1_ENST00000504342.1_Missense_Mutation_p.K561N P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 561 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CTTGTGCCAGCTTAAATATGT 0.473000 68 239 1.10181e-30 2.15052e-30 0.870114 1 0 HMCN1 83872 broad.mit.edu 37 1 186099673 186099673 + Silent SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:186099673C>T ENST00000271588.4 + 85 13303 c.13074C>T c.(13072-13074)aaC>aaT p.N4358N HMCN1_ENST00000367492.2_Silent_p.N4358N NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4358 Ig-like C2-type 43. N -> H (in Ref. 4). response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATCCTTCTAACTGGATTGAAC 0.413000 45 66 0 0 0.870114 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110454380 110454380 + Missense_Mutation SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr8:110454380A>T ENST00000378402.5 + 35 4453 c.4349A>T c.(4348-4350)tAt>tTt p.Y1450F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1450 IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGTGTAATTTATGATGGCAAA 0.393000 HNSCC(38;0.096) 12 33 0 0 0.411799 0 0 GAPDHS 26330 broad.mit.edu 37 19 36029297 36029297 + Nonsense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:36029297G>T ENST00000222286.4 + 3 450 c.334G>T c.(334-336)Gaa>Taa p.E112* NM_014364.4 NP_055179.1 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, spermatogenic 112 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8) 11 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) CATTGACCCGGAATACATGGT 0.577000 12 34 4.3838e-07 5.28012e-07 0.435327 1 0 ZFHX4 79776 broad.mit.edu 37 8 77745609 77745609 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr8:77745609G>T ENST00000521891.2 + 5 3809 c.3361G>T c.(3361-3363)Gat>Tat p.D1121Y ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1095Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1095Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1095Y NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1095 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTGTGATGATGATCTTACAGA 0.428000 HNSCC(33;0.089) 19 21 7.38237e-10 9.72312e-10 0.706142 1 0 RP1L1 94137 broad.mit.edu 37 8 10469183 10469183 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr8:10469183G>T ENST00000382483.3 - 4 2648 c.2425C>A c.(2425-2427)Cag>Aag p.Q809K NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 809 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CGTCCAACCTGCAGAACCAAG 0.682000 23 57 1.10513e-12 1.5568e-12 0.624587 1 0 CGN 57530 broad.mit.edu 37 1 151502571 151502571 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:151502571G>T ENST00000271636.7 + 12 2426 c.2293G>T c.(2293-2295)Gac>Tac p.D765Y NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 759 Glu-rich. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) ACGACTACGGGACAAGCTGCA 0.582000 38 93 1.67305e-13 2.41994e-13 0.819951 1 0 COLEC11 78989 broad.mit.edu 37 2 3691323 3691323 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:3691323C>T ENST00000403096.3 + 6 844 c.353C>T c.(352-354)gCc>gTc p.A118V COLEC11_ENST00000418971.2_Missense_Mutation_p.A158V|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Missense_Mutation_p.A70V|COLEC11_ENST00000402794.1_Missense_Mutation_p.A94V|COLEC11_ENST00000402922.1_Missense_Mutation_p.A94V|COLEC11_ENST00000236693.7_Missense_Mutation_p.A141V|COLEC11_ENST00000382062.2_Missense_Mutation_p.A120V|COLEC11_ENST00000349077.4_Missense_Mutation_p.A144V NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 144 collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) ACAGCTGTCGCCGGTGTGCGC 0.637000 39 79 0 0 0.870114 0 0 LPPR4 9890 broad.mit.edu 37 1 99771279 99771279 + Missense_Mutation SNP G G C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:99771279G>C ENST00000370185.3 + 7 1502 c.1005G>C c.(1003-1005)gaG>gaC p.E335D LPPR4_ENST00000370184.1_Missense_Mutation_p.E177D|LPPR4_ENST00000457765.1_Missense_Mutation_p.E277D NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 335 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) CCAGTGATGAGAGTATGTTTC 0.448000 21 53 0 0 0.639603 0 0 FCRLA 84824 broad.mit.edu 37 1 161681891 161681891 + Missense_Mutation SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:161681891T>A ENST00000367959.2 + 5 978 c.736T>A c.(736-738)Tca>Aca p.S246T FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.S229T|FCRLA_ENST00000367957.2_Missense_Mutation_p.S100T|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.S134T|FCRLA_ENST00000294796.4_Missense_Mutation_p.S89T|FCRLA_ENST00000540926.1_Missense_Mutation_p.S229T|FCRLA_ENST00000236938.6_Missense_Mutation_p.S240T|FCRLA_ENST00000540521.1_Missense_Mutation_p.S106T|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000546024.1_Missense_Mutation_p.S151T NM_001184866.1 NP_001171795.1 Q7L513 FCRLA_HUMAN Fc receptor-like A 223 Ig-like C2-type 2. cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GGGGCTCTCCTCAGAATTCCA 0.552000 31 73 0 0 0.769981 0 0 MISP 126353 broad.mit.edu 37 19 758716 758716 + Silent SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:758716C>A ENST00000215582.6 + 2 1873 c.1770C>A c.(1768-1770)tcC>tcA p.S590S NM_173481.2 NP_775752.1 mitotic spindle positioning GGAGCTCCTCCCAGGCATCCG 0.612000 9 21 1.58986e-06 1.85962e-06 0.361761 1 0 C6orf136 221545 broad.mit.edu 37 6 30619113 30619113 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr6:30619113C>T ENST00000293604.6 + 4 1370 c.1177C>T c.(1177-1179)Cgt>Tgt p.R393C C6orf136_ENST00000376471.4_Missense_Mutation_p.R78C|C6orf136_ENST00000376473.5_Missense_Mutation_p.R212C|C6orf136_ENST00000528347.2_Missense_Mutation_p.R69C NM_001161376.1 NP_001154848.1 Q5SQH8 CF136_HUMAN chromosome 6 open reading frame 136 212 endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TGCACACCTTCGTTTGGAGGT 0.552000 139 178 0 0 0.870114 0 0 ZAP70 7535 broad.mit.edu 37 2 98354034 98354034 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:98354034C>T ENST00000264972.5 + 11 1603 c.1388C>T c.(1387-1389)gCg>gTg p.A463V ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.A337V|ZAP70_ENST00000451498.2_Missense_Mutation_p.A156V NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 463 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 CGTGACCTGGCGGCCCGCAAC 0.587000 20 33 0 0 0.624587 0 0 PDP1 54704 broad.mit.edu 37 8 94934845 94934845 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr8:94934845G>T ENST00000396200.3 + 3 909 c.633G>T c.(631-633)ctG>ctT p.L211L PDP1_ENST00000520728.1_Silent_p.L186L|PDP1_ENST00000297598.4_Silent_p.L186L|PDP1_ENST00000517764.1_Silent_p.L186L NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 186 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 GCCGGGCACTGCTACCCATTC 0.448000 13 56 4.7546e-09 5.9709e-09 0.500413 1 0 NBAS 51594 broad.mit.edu 37 2 15427201 15427201 + Missense_Mutation SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:15427201T>A ENST00000281513.5 - 42 5159 c.5134A>T c.(5134-5136)Agt>Tgt p.S1712C NBAS_ENST00000441750.1_Missense_Mutation_p.S1592C NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1712 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GCTTACCCACTGTCCGTGAAG 0.403000 33 57 0 0 0.779181 0 0 GAL3ST2 64090 broad.mit.edu 37 2 242741262 242741262 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:242741262G>T ENST00000192314.6 + 3 317 c.186G>T c.(184-186)acG>acT p.T62T AC114730.5_ENST00000437438.1_RNA NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 62 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) CGCACAAGACGGCCAGCAGCA 0.662000 21 46 6.12954e-19 9.88044e-19 0.681144 1 0 PYROXD1 79912 broad.mit.edu 37 12 21602606 21602606 + Missense_Mutation SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr12:21602606G>A ENST00000538582.1 + 4 935 c.182G>A c.(181-183)cGt>cAt p.R61H PYROXD1_ENST00000545178.1_Missense_Mutation_p.R132H|PYROXD1_ENST00000240651.9_Missense_Mutation_p.R132H Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 1 132 oxidoreductase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1) 18 TTAGGAATCCGTGATACAGAC 0.363000 17 29 0 0 0.624587 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553780 140553780 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:140553780C>A ENST00000231137.3 + 1 1538 c.1364C>A c.(1363-1365)tCc>tAc p.S455Y NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 455 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCAAACCTCCTACACCCTG 0.602000 53 93 5.45122e-27 9.92245e-27 0.870114 1 0 MAP3K15 389840 broad.mit.edu 37 X 19410151 19410151 + Silent SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:19410151C>A ENST00000338883.4 - 18 2399 c.2400G>T c.(2398-2400)gcG>gcT p.A800A MAP3K15_ENST00000469203.2_Silent_p.A632A|MAP3K15_ENST00000359173.3_Silent_p.A235A|MAP3K15_ENST00000518578.1_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 800 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GGTTCACACCCGCAAGACGTT 0.502000 28 37 1.22384e-17 1.89724e-17 0.769981 1 0 NR5A2 2494 broad.mit.edu 37 1 200017678 200017678 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:200017678C>A ENST00000367362.3 + 5 1088 c.842C>A c.(841-843)cCc>cAc p.P281H NR5A2_ENST00000544748.1_Missense_Mutation_p.P209H|NR5A2_ENST00000236914.3_Missense_Mutation_p.P235H NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 281 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) ACCAGCTCACCCGAGTCCATA 0.507000 35 42 2.05212e-20 3.48108e-20 0.812448 1 0 RRAGB 10325 broad.mit.edu 37 X 55779873 55779873 + Nonsense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:55779873G>T ENST00000374941.4 + 7 1250 c.661G>T c.(661-663)Gaa>Taa p.E221* RRAGB_ENST00000262850.7_Nonsense_Mutation_p.E249* NM_006064.4 NP_006055.3 Q5VZM2 RRAGB_HUMAN Ras-related GTP binding B 249 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction Golgi apparatus|lysosome|nucleus GTP binding|protein binding breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1) 14 TCAGCAGCTGGAAATGAACCT 0.393000 21 30 3.8784e-16 5.89954e-16 0.608945 1 0 ABCG2 9429 broad.mit.edu 37 4 89013464 89013464 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr4:89013464G>T ENST00000237612.3 - 16 2435 c.1890C>A c.(1888-1890)caC>caA p.H630Q ABCG2_ENST00000515655.1_3'UTR NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 630 ABC transmembrane type-2. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) CCAAGGCCACGTGATTCTTCC 0.358000 16 48 1.64113e-05 1.83354e-05 0.592651 1 0 TMC2 117532 broad.mit.edu 37 20 2597952 2597952 + Silent SNP G G T rs141182747 TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr20:2597952G>T ENST00000358864.1 + 16 2190 c.2175G>T c.(2173-2175)ccG>ccT p.P725P TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 725 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 ACTGCGGGCCGTTCAGGTGCA 0.622000 14 38 2.4624e-09 3.14101e-09 0.575678 1 0 PTPRF 5792 broad.mit.edu 37 1 44079301 44079301 + Missense_Mutation SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:44079301A>T ENST00000359947.4 + 23 4326 c.3986A>T c.(3985-3987)cAc>cTc p.H1329L PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.H688L|PTPRF_ENST00000438120.1_Missense_Mutation_p.H1320L|PTPRF_ENST00000372413.3_Missense_Mutation_p.H1320L|PTPRF_ENST00000372414.3_Missense_Mutation_p.H1329L NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1329 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATGCGAGACCACCCACCCATC 0.572000 17 85 0 0 0.654019 0 0 FOXR2 139628 broad.mit.edu 37 X 55650676 55650676 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:55650676C>A ENST00000339140.3 + 1 844 c.532C>A c.(532-534)Cag>Aag p.Q178K NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 178 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 TTACCAGAGCCAGAAACTATG 0.502000 14 26 1.05317e-09 1.37039e-09 0.457914 1 0 C2orf78 388960 broad.mit.edu 37 2 74040677 74040677 + Silent SNP A A T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:74040677A>T ENST00000409561.1 + 2 292 c.171A>T c.(169-171)gcA>gcT p.A57A NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 57 Ser-rich. cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TGAGCAATGCAGCTTTCTTAA 0.483000 15 29 0 0 0.539581 0 0 ZNF586 54807 broad.mit.edu 37 19 58290976 58290976 + Nonsense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:58290976G>T ENST00000391702.3 + 4 1259 c.892G>T c.(892-894)Gga>Tga p.G298* ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396154.2_Nonsense_Mutation_p.G341* NM_001204814.1 NP_001191743.1 Q9NXT0 ZN586_HUMAN zinc finger protein 586 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1) 15 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGTTCACACTGGAGAAAGGCC 0.453000 33 75 1.99505e-19 3.26463e-19 0.760397 1 0 ISOC1 51015 broad.mit.edu 37 5 128430651 128430651 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:128430651G>T ENST00000173527.5 + 1 208 c.192G>T c.(190-192)atG>atT p.M64I NM_016048.2 NP_057132.2 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 64 peroxisome catalytic activity kidney(2)|lung(7) 9 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) AGATCGACATGCACCGCAAAT 0.642000 17 8 6.94344e-10 9.18235e-10 0.539581 1 0 LANCL3 347404 broad.mit.edu 37 X 37518838 37518838 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:37518838G>T ENST00000378621.3 + 3 1123 c.821G>T c.(820-822)tGc>tTc p.C274F LANCL3_ENST00000378619.3_Missense_Mutation_p.C274F|TM4SF2_ENST00000465127.1_Intron NM_198511.2 NP_940913.1 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 (bacterial) 274 catalytic activity lung(4)|pancreas(1) 5 GAACAAAACTGCAACTGGCCA 0.507000 26 45 3.28513e-13 4.66834e-13 0.667858 1 0 ANKFN1 162282 broad.mit.edu 37 17 54431215 54431215 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr17:54431215G>T ENST00000566473.2 + 5 418 c.418G>T c.(418-420)Gcc>Tcc p.A140S ANKFN1_ENST00000318698.2_Missense_Mutation_p.A140S Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 140 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 GGGCAATGAAGCCATGTTTGA 0.438000 28 55 2.04263e-09 2.62624e-09 0.796494 1 0 SLC35G5 83650 broad.mit.edu 37 8 11189033 11189033 + Missense_Mutation SNP G G T rs145196437 byFrequency TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr8:11189033G>T ENST00000382435.4 + 1 637 c.418G>T c.(418-420)Gta>Tta p.V140L NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 140 DUF6 1. integral to membrane TTCTTCCACCGTATGCTCCGC 0.577000 78 132 1.07466e-44 2.20373e-44 0.870114 1 0 ITPRIP 85450 broad.mit.edu 37 10 106074291 106074291 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr10:106074291C>T ENST00000278071.2 - 3 1971 c.1519G>A c.(1519-1521)Gtc>Atc p.V507I ITPRIP_ENST00000337478.1_Missense_Mutation_p.V507I|ITPRIP_ENST00000358187.2_Missense_Mutation_p.V507I NM_033397.2 NP_203755.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein 507 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 CGCTGCAGGACGAAGGGCCGG 0.592000 4 51 0 0 0.150653 0 0 ESPNL 339768 broad.mit.edu 37 2 239039222 239039222 + Silent SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:239039222C>A ENST00000343063.3 + 9 2130 c.1867C>A c.(1867-1869)Cgg>Agg p.R623R ESPNL_ENST00000409169.1_Silent_p.R579R|ESPNL_ENST00000409506.1_Silent_p.R255R|ESPNL_ENST00000477241.1_3'UTR NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 623 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GCCATCCACCCGGCCCCTGCA 0.697000 3 2 0.00024832 0.00026553 0.150653 1 0 NUP98 4928 broad.mit.edu 37 11 3716680 3716680 + Splice_Site SNP G G A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:3716680G>A ENST00000324932.7 - 26 4586 c.4167_splice c.e26+1 p.P1389_splice NUP98_ENST00000355260.3_Splice_Site_p.P1389_splice|NUP98_ENST00000359171.4_Splice_Site_p.P1389_splice NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1406 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AGAAGATACCGGTTTTCCAGC 0.448000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 39 268 0 0 0.870114 0 0 GAPDHS 26330 broad.mit.edu 37 19 36029295 36029295 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:36029295C>A ENST00000222286.4 + 3 448 c.332C>A c.(331-333)cCg>cAg p.P111Q NM_014364.4 NP_055179.1 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, spermatogenic 111 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding p.P111Q(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(8) 11 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) TTCATTGACCCGGAATACATG 0.577000 12 34 4.3838e-07 5.28012e-07 0.435327 1 0 FBL 2091 broad.mit.edu 37 19 40331126 40331126 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:40331126C>A ENST00000221801.3 - 3 324 c.211G>T c.(211-213)Ggt>Tgt p.G71C NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 71 DMA/Gly-rich. rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) CGACCACGACCCCGGTTGCCA 0.587000 70 193 9.04243e-43 1.83109e-42 0.870114 1 0 OR1L3 26735 broad.mit.edu 37 9 125437929 125437929 + Missense_Mutation SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr9:125437929T>A ENST00000304820.2 + 1 615 c.521T>A c.(520-522)aTc>aAc p.I174N NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 TCAAATGTTATCCATCATTTT 0.458000 106 84 0 0 0.870114 0 0 TMTC4 84899 broad.mit.edu 37 13 101278089 101278089 + Silent SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr13:101278089C>T ENST00000342624.5 - 14 1902 c.1644G>A c.(1642-1644)agG>agA p.R548R TMTC4_ENST00000376234.3_Silent_p.R529R|TMTC4_ENST00000328767.5_Silent_p.R418R|TMTC4_ENST00000462211.1_5'UTR NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 529 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GTAGCTCATTCCTTTCTTTTA 0.363000 14 30 0 0 0.500413 0 0 ACSM1 116285 broad.mit.edu 37 16 20648082 20648082 + Silent SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr16:20648082C>T ENST00000219151.4 - 10 1441 c.231G>A c.(229-231)gtG>gtA p.V77V ACSM1_ENST00000307493.4_Silent_p.V426V|ACSM1_ENST00000520010.1_Silent_p.V426V Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 426 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TGAAGAGGCTCACAGGCCTGA 0.537000 21 75 0 0 0.654019 0 0 CLEC9A 283420 broad.mit.edu 37 12 10217401 10217401 + Missense_Mutation SNP G G C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr12:10217401G>C ENST00000355819.1 + 8 1155 c.542G>C c.(541-543)gGa>gCa p.G181A NM_207345.2 NP_997228.1 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 181 C-type lectin. positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 22 TCTCAGGATGGACACAGCGGA 0.448000 27 73 0 0 0.740014 0 0 WWC3 55841 broad.mit.edu 37 X 10094301 10094301 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:10094301G>T ENST00000380861.4 + 15 2452 c.2061G>T c.(2059-2061)caG>caT p.Q687H WWC3_ENST00000454666.1_Missense_Mutation_p.Q687H NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 687 C2. NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 AGTCACTTCAGTTATACGTGT 0.557000 50 107 3.53049e-34 7.01765e-34 0.870114 1 0 SERPINB3 6317 broad.mit.edu 37 18 61326666 61326666 + Silent SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr18:61326666C>T ENST00000283752.5 - 4 461 c.318G>A c.(316-318)aaG>aaA p.K106K SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.K106K NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 106 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CTCCGAAGAGCTTGTTGGCGA 0.413000 39 56 0 0 0.870114 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321405 79321405 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr9:79321405C>A ENST00000428286.1 - 8 5908 c.4708G>T c.(4708-4710)Gac>Tac p.D1570Y PRUNE2_ENST00000376718.3_Missense_Mutation_p.D1929Y Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1929 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TTAATTTGGTCTAATTTTACA 0.473000 5 11 0.000602214 0.000635562 0.184627 1 0 ZNF519 162655 broad.mit.edu 37 18 14105257 14105257 + Nonsense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr18:14105257C>A ENST00000590202.1 - 3 1434 c.1282G>T c.(1282-1284)Gga>Tga p.G428* ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 TGTTTCTCTCCAGTATGGATT 0.408000 33 48 9.80977e-26 1.77562e-25 0.796494 1 0 TGFBRAP1 9392 broad.mit.edu 37 2 105885852 105885852 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr2:105885852C>A ENST00000393359.2 - 11 2709 c.2283G>T c.(2281-2283)tgG>tgT p.W761C TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.W761C Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 761 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GCTGCACTGACCAGGTGTCAG 0.647000 13 34 2.61681e-11 3.56239e-11 0.457914 1 0 NPAS4 266743 broad.mit.edu 37 11 66191384 66191384 + Silent SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:66191384C>A ENST00000311034.2 + 7 1199 c.1023C>A c.(1021-1023)acC>acA p.T341T NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 341 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GCACTCCGACCATGCTGCCCT 0.577000 59 134 2.40041e-21 4.13688e-21 0.870114 1 0 UBQLN3 50613 broad.mit.edu 37 11 5529501 5529501 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:5529501C>A ENST00000311659.4 - 2 1435 c.1288G>T c.(1288-1290)Gca>Tca p.A430S HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 430 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTTTCCCTGCACCATCTTGG 0.522000 40 91 1.41504e-22 2.47822e-22 0.859065 1 0 MSN 4478 broad.mit.edu 37 X 64958955 64958955 + Missense_Mutation SNP G G C TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:64958955G>C ENST00000360270.5 + 12 1640 c.1468G>C c.(1468-1470)Gct>Cct p.A490P MSN_ENST00000486030.1_3'UTR NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin 490 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 TGGGGCAGAGGCTAGTGCTGA 0.562000 T ALK ALCL 15 17 0 0 0.457914 0 0 DZIP1 22873 broad.mit.edu 37 13 96242177 96242177 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr13:96242177C>A ENST00000347108.3 - 16 2285 c.1853G>T c.(1852-1854)aGt>aTt p.S618I DZIP1_ENST00000376829.2_Missense_Mutation_p.S618I|DZIP1_ENST00000361396.2_Missense_Mutation_p.S599I|DZIP1_ENST00000361156.3_Missense_Mutation_p.S599I Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 618 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TTGAGAAACACTGCACTGATC 0.378000 8 42 7.48243e-07 8.88025e-07 0.335167 1 0 LIX1 167410 broad.mit.edu 37 5 96430716 96430716 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr5:96430716C>A ENST00000274382.4 - 6 880 c.585G>T c.(583-585)caG>caT p.Q195H CTD-2215E18.1_ENST00000509481.1_Intron NM_153234.4 NP_694966.3 Q8N485 LIX1_HUMAN Lix1 homolog (chicken) 195 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1) 10 all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.0733) CTAGAGAATACTGAGAATAGT 0.517000 8 36 1.12685e-05 1.26771e-05 0.307466 1 0 TENM4 26011 broad.mit.edu 37 11 78380773 78380773 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:78380773G>T ENST00000278550.7 - 32 7079 c.6617C>A c.(6616-6618)tCc>tAc p.S2206Y NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GTCATTGATGGAGACTGTCTG 0.547000 35 52 3.03874e-20 5.12787e-20 0.779181 1 0 DDX43 55510 broad.mit.edu 37 6 74121953 74121953 + Missense_Mutation SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr6:74121953C>A ENST00000370336.4 + 11 1464 c.1306C>A c.(1306-1308)Cgc>Agc p.R436S DDX43_ENST00000479773.1_3'UTR NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 436 Helicase ATP-binding. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TTCAGTTCATCGCCTCGCACA 0.323000 20 70 8.58068e-18 1.34306e-17 0.717897 1 0 MICALL2 79778 broad.mit.edu 37 7 1498916 1498916 + Missense_Mutation SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr7:1498916T>A ENST00000297508.7 - 1 222 c.47A>T c.(46-48)gAg>gTg p.E16V MICALL2_ENST00000405088.4_Missense_Mutation_p.E16V NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 16 CH. cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GCGGTAGCCCTCGCACTGCTG 0.701000 6 10 0 0 0.217242 0 0 PAPPA 5069 broad.mit.edu 37 9 119115071 119115071 + Missense_Mutation SNP C C A rs55679739 byFrequency TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr9:119115071C>A ENST00000328252.3 + 16 4420 c.4051C>A c.(4051-4053)Cct>Act p.P1351T PAPPA_ENST00000534838.1_Missense_Mutation_p.P389T NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1351 Sushi 3. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CGCTCCACCCCCTGTGCCCAA 0.587000 24 37 4.14947e-28 7.7266e-28 0.750413 1 0 OR10H5 284433 broad.mit.edu 37 19 15905793 15905793 + Missense_Mutation SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:15905793C>T ENST00000308940.8 + 1 1033 c.935C>T c.(934-936)cCa>cTa p.P312L NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 AAACTCTTTCCACAGAACTGC 0.483000 10 22 0 0 0.335167 0 0 OR10S1 219873 broad.mit.edu 37 11 123847682 123847682 + Silent SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:123847682C>T ENST00000531945.1 - 1 806 c.717G>A c.(715-717)gtG>gtA p.V239V NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGATGCGCAACACAGCTGCCA 0.587000 22 53 0 0 0.693898 0 0 IGHV4-61 28391 broad.mit.edu 37 14 107095460 107095460 + RNA SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr14:107095460C>A ENST00000390630.2 - 0 147 CCACAGTGAGCCCTGGGATCA 0.612000 26 47 1.08052e-11 1.48974e-11 0.796494 1 0 ATP12A 479 broad.mit.edu 37 13 25284950 25284950 + Missense_Mutation SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr13:25284950G>T ENST00000218548.6 + 21 3269 c.2936G>T c.(2935-2937)gGg>gTg p.G979V ATP12A_ENST00000381946.3_Missense_Mutation_p.G973V NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 973 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) ATCTGGGTGGGGATCACCTCA 0.488000 23 24 3.70037e-05 4.07796e-05 0.740014 1 0 DPPA2 151871 broad.mit.edu 37 3 109023336 109023336 + Silent SNP G G T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr3:109023336G>T ENST00000478945.1 - 7 1086 c.840C>A c.(838-840)ccC>ccA p.P280P NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 280 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TAGCACAGTCGGGGCATAACA 0.428000 28 44 9.04072e-19 1.4501e-18 0.779181 1 0 HFM1 164045 broad.mit.edu 37 1 91784849 91784849 + Splice_Site SNP C C A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:91784849C>A ENST00000370425.3 - 24 2779 c.e24+1 HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000294696.5_Splice_Site|HFM1_ENST00000462405.1_Splice_Site NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CTGTAACATACATCTTGTAAT 0.328000 11 43 1.05317e-09 1.37039e-09 0.457914 1 0 P2RY10 27334 broad.mit.edu 37 X 78216192 78216192 + Silent SNP C C T TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:78216192C>T ENST00000171757.2 + 4 455 c.175C>T c.(175-177)Ctg>Ttg p.L59L P2RY10_ENST00000544091.1_Silent_p.L59L|P2RY10_ENST00000475374.1_3'UTR NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 59 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CTTGTGGGTTCTGTGCCGCTT 0.418000 4 82 0 0 0.150653 0 0 AGO3 192669 broad.mit.edu 37 1 36505477 36505477 + Frame_Shift_Del DEL G G - TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:36505477delG ENST00000373191.4 + 15 2278 c.1929delG c.(1927-1929)ttfs p.L643fs AGO3_ENST00000246314.6_Frame_Shift_Del_p.L409fs NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 TCCAGGACTTGGCCTCCATGG 0.463 17 49 --- --- --- --- CNTN2 6900 broad.mit.edu 37 1 205033506 205033507 + Frame_Shift_Del DEL GG GG - TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr1:205033506_205033507delGG ENST00000331830.4 + 11 1581_1582 c.1297_1298delGG c.(1297-1299)gfs p.G434fs NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 434 Ig-like C2-type 5. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CGCGGCCCGCGGGGGAGAGATC 0.614 56 221 --- --- --- --- SLC6A20 54716 broad.mit.edu 37 3 45823661 45823661 + Frame_Shift_Del DEL A A - TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr3:45823661delA ENST00000358525.4 - 2 291 c.176delT c.(175-177)tgfs p.L59fs SLC6A20_ENST00000456124.2_Frame_Shift_Del_p.L59fs|SLC6A20_ENST00000353278.4_Frame_Shift_Del_p.L59fs NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 59 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) TTCCAGGTACAAGAGCGGCAT 0.612 14 43 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85676452 85676453 + Frame_Shift_Ins INS - - A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr4:85676452_85676453insA ENST00000322366.6 - 34 5932_5933 c.5525_5526insT c.(5524-5526)tttfs p.F1842fs WDFY3_ENST00000295888.4_Frame_Shift_Ins_p.F1842fs Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1842 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTCCCAATAATAAAAAAACAGC 0.421 10 53 --- --- --- --- TLN1 7094 broad.mit.edu 37 9 35705818 35705820 + In_Frame_Del DEL CTT CTT - TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr9:35705818_35705820delCTT ENST00000314888.9 - 42 5893_5895 c.5540_5542delAAG c.(5539-5544)ggt>g p.EG1847del TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_In_Frame_Del_p.EG1781del NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1847 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACGAAGGAACCTTCTGGTTCACC 0.557 43 145 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 8 128 --- --- --- --- ATM 472 broad.mit.edu 37 11 108139250 108139251 + Frame_Shift_Ins INS - - TTAGGGCAGCTGA TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:108139250_108139251insTTAGGGCAGCTGA ENST00000278616.4 + 18 3137_3138 c.2752_2753insTTAGGGCAGCTGA c.(2752-2754)tagfs p.*918fs ATM_ENST00000452508.2_Frame_Shift_Ins_p.*918fs NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 918 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TACTGTGTCCTTTAGGGCAGCT 0.391 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 12 169 --- --- --- --- ZBTB16 7704 broad.mit.edu 37 11 113935185 113935186 + Frame_Shift_Ins INS - - G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr11:113935185_113935186insG ENST00000335953.4 + 2 1543_1544 c.1163_1164insG c.(1162-1164)cggfs p.R388fs ZBTB16_ENST00000392996.2_Frame_Shift_Ins_p.R388fs NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 388 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) TTCAGCAAGCTGGGGGAGCTGG 0.639 31 120 --- --- --- --- MON2 23041 broad.mit.edu 37 12 62931032 62931032 + Frame_Shift_Del DEL G G - TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr12:62931032delG ENST00000393630.3 + 15 2393 c.2002delG c.(2002-2004)ggfs p.G668fs MON2_ENST00000552738.1_Frame_Shift_Del_p.G645fs|MON2_ENST00000393632.2_Frame_Shift_Del_p.G668fs|MON2_ENST00000393629.2_Frame_Shift_Del_p.G668fs|MON2_ENST00000552115.1_Frame_Shift_Del_p.G668fs|MON2_ENST00000546600.1_Frame_Shift_Del_p.G668fs|MON2_ENST00000280379.6_Frame_Shift_Del_p.G668fs NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 668 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CCAGCCTCAAGGGACAGTAAT 0.393 22 49 --- --- --- --- BCL11B 64919 broad.mit.edu 37 14 99641544 99641546 + In_Frame_Del DEL CTC CTC - TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr14:99641544_99641546delCTC ENST00000345514.2 - 3 1680_1682 c.1414_1416delGAG c.(1414-1416)del p.E472del BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 543 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CCAGTAGCAGctcctcctcctcc 0.700 T TLX3 T-ALL 2 4 --- --- --- --- CHEK2P2 646096 broad.mit.edu 37 15 20490739 20490739 + RNA DEL G G - rs143465906 TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr15:20490739delG ENST00000555186.1 + 0 568 NR_038836.1 GTTACAACCTGtttttttttt 0.423 2 4 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 5 6 --- --- --- --- IL9RP3 729486 broad.mit.edu 37 16 81771 81772 + RNA INS - - A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr16:81771_81772insA ENST00000568710.1 - 0 434 CCCTGCCCCCCATGTCCTGCTG 0.569 53 90 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 46 216 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684390 26684391 + Frame_Shift_Ins INS - - C rs148075904 by1000genomes TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr17:26684390_26684391insC ENST00000540200.1 - 2 80_81 c.81_82insG c.(79-84)aacgctfs p.NA27fs POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 28 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCACAGAGCGGCTTTGCCACCG 0.762 4 2 --- --- --- --- LAMA3 3909 broad.mit.edu 37 18 21294017 21294017 + Frame_Shift_Del DEL T T - TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr18:21294017delT ENST00000313654.9 + 2 669 c.428delT c.(427-429)ccfs p.L143fs LAMA3_ENST00000399516.3_Frame_Shift_Del_p.L143fs NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 143 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAGTCAACCTCACCTTGGAT 0.473 25 54 --- --- --- --- C19orf44 84167 broad.mit.edu 37 19 16612157 16612157 + Frame_Shift_Del DEL C C - TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:16612157delC ENST00000221671.3 + 2 710 c.554delC c.(553-555)tcfs p.S185fs CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Frame_Shift_Del_p.S185fs NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 185 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 GAAAACATATCCCCTGAAGCA 0.448 27 18 --- --- --- --- PTOV1 53635 broad.mit.edu 37 19 50363317 50363323 + Frame_Shift_Del DEL GAAAATC GAAAATC - TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chr19:50363317_50363323delGAAAATC ENST00000391842.1 + 11 1286_1292 c.1116_1122delGAAAATC c.(1114-1122)aafs p.KKI372fs PTOV1_ENST00000221557.9_Frame_Shift_Del_p.RKS317fs|PTOV1_ENST00000600603.1_Frame_Shift_Del_p.RKS317fs|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601675.1_Frame_Shift_Del_p.KKI372fs|PTOV1_ENST00000599732.1_Frame_Shift_Del_p.KKI372fs|PTOV1_ENST00000601638.1_Frame_Shift_Del_p.KKI340fs|AC018766.4_ENST00000596624.1_RNA NM_017432.3 NP_059128.2 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 372 Interaction with FLOT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1) 16 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) CTTCAGAGAAGAAAATCTTCATTGGCC 0.575 12 67 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50213063 50213063 + RNA DEL G G - TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:50213063delG ENST00000376025.2 - 0 674 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TTGGCGTTCTGggcgatggcg 0.557 23 37 --- --- --- --- HUWE1 10075 broad.mit.edu 37 X 53565946 53565946 + Frame_Shift_Del DEL G G - TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08f9cf60-1bd5-4180-9c94-bc828ece9445 b268e88d-a6ec-4824-a6d1-0e770cdc63b0 g.chrX:53565946delG ENST00000342160.3 - 75 12185 c.11728delC c.(11728-11730)acfs p.H3910fs HUWE1_ENST00000262854.6_Frame_Shift_Del_p.H3910fs Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3910 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TCCTTGATGTGTGCCAGCTGG 0.617 15 16 --- --- --- ---