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 KIF1B 23095 broad.mit.edu 37 1 10342413 10342413 + Missense_Mutation SNP A A G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:10342413A>G ENST00000377086.1 + 15 1458 c.1256A>G c.(1255-1257)tAc>tGc p.Y419C KIF1B_ENST00000377083.1_Intron|KIF1B_ENST00000377093.4_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Missense_Mutation_p.Y419C O60333 KIF1B_HUMAN kinesin family member 1B 419 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AAGCATAGATACTTGCTAGCC 0.453 13 37 --- --- --- --- JUN 3725 broad.mit.edu 37 1 59248569 59248569 + Silent SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:59248569C>A ENST00000371222.2 - 1 1216 c.174G>T c.(172-174)tcG>tcT p.S58S NM_002228.3 NP_002219.1 P05412 JUN_HUMAN jun proto-oncogene 58 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|kidney(2)|lung(5)|skin(1) 10 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) TGAGGAGGTCCGAGTTCTTGG 0.632 A sarcoma 12 183 --- --- --- --- USP33 23032 broad.mit.edu 37 1 78195548 78195548 + Missense_Mutation SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:78195548C>A ENST00000370793.1 - 10 1153 c.807G>T c.(805-807)caG>caT p.Q269H USP33_ENST00000370792.3_Missense_Mutation_p.Q269H|USP33_ENST00000370794.3_Missense_Mutation_p.Q238H|USP33_ENST00000357428.1_Missense_Mutation_p.Q269H NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 269 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 AACTAACCTGCTGAGAATACC 0.333 4 90 --- --- --- --- KIRREL 55243 broad.mit.edu 37 1 158064794 158064794 + Missense_Mutation SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:158064794C>A ENST00000368172.1 + 11 1612 c.1600C>A c.(1600-1602)Cca>Aca p.P534T KIRREL_ENST00000368173.3_Missense_Mutation_p.P736T|KIRREL_ENST00000392272.2_Missense_Mutation_p.P617T|KIRREL_ENST00000359209.6_Missense_Mutation_p.P720T|KIRREL_ENST00000360089.4_Missense_Mutation_p.P556T|KIRREL_ENST00000416935.2_Missense_Mutation_p.P620T Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 720 integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GGAGCGGACCCCATATGAGGC 0.622 4 41 --- --- --- --- KLHL20 27252 broad.mit.edu 37 1 173744960 173744960 + Silent SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:173744960C>A ENST00000209884.4 + 10 1753 c.1617C>A c.(1615-1617)gcC>gcA p.A539A KLHL20_ENST00000546011.1_Silent_p.A350A NM_014458.3 NP_055273.2 Q9Y2M5 KLH20_HUMAN kelch-like family member 20 539 cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 CAGTGGTGGCCATGACATCAC 0.473 4 87 --- --- --- --- KIF21B 23046 broad.mit.edu 37 1 200972744 200972744 + Silent SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:200972744C>T ENST00000332129.2 - 8 1498 c.1182G>A c.(1180-1182)cgG>cgA p.R394R KIF21B_ENST00000422435.2_Silent_p.R394R|KIF21B_ENST00000360529.5_Silent_p.R394R|KIF21B_ENST00000461742.2_Silent_p.R394R NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 394 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.R394R(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CCATCTGCAGCCGAGCAATCT 0.562 18 69 --- --- --- --- C1orf95 375057 broad.mit.edu 37 1 226784502 226784502 + Splice_Site SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:226784502G>T ENST00000366788.3 + 2 307 c.e2-1 C1orf95_ENST00000366789.4_Splice_Site NM_001003665.3 NP_001003665.1 Q69YW2 CA095_HUMAN chromosome 1 open reading frame 95 integral to membrane large_intestine(1)|lung(4)|ovary(3) 8 Breast(184;0.133) Prostate(94;0.0885) GBM - Glioblastoma multiforme(131;0.113) GCCTCTCACAGGGACATTCGT 0.632 6 129 --- --- --- --- OBSCN 84033 broad.mit.edu 37 1 228433202 228433202 + Silent SNP G G C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:228433202G>C ENST00000570156.2 + 13 3920 c.3846G>C c.(3844-3846)gtG>gtC p.V1282V OBSCN_ENST00000284548.11_Silent_p.V1190V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.V1190V|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 261 Ig-like 13. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTGTGAGGTGGCCCAGCCCC 0.607 11 71 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237711848 237711848 + Silent SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:237711848G>A ENST00000366574.2 + 26 3341 c.3024G>A c.(3022-3024)gcG>gcA p.A1008A RYR2_ENST00000360064.6_Silent_p.A1006A|RYR2_ENST00000542537.1_Silent_p.A992A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1008 4 X approximate repeats. 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) ATGTGTGGGCGCGGGATCGAA 0.473 12 41 --- --- --- --- APOB 338 broad.mit.edu 37 2 21231069 21231069 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr2:21231069G>T ENST00000233242.1 - 26 8798 c.8671C>A c.(8671-8673)Cac>Aac p.H2891N NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 2891 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCAATTTGTGGAAGTATTTA 0.428 5 209 --- --- --- --- SRD5A2 6716 broad.mit.edu 37 2 31806024 31806024 + RNA SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr2:31806024C>A ENST00000405650.1 - 0 112 P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) GCGCGGCCCCCGCAACCCCTT 0.726 3 23 --- --- --- --- VPS54 51542 broad.mit.edu 37 2 64208816 64208816 + Missense_Mutation SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr2:64208816C>A ENST00000409558.4 - 3 460 c.306G>T c.(304-306)aaG>aaT p.K102N VPS54_ENST00000272322.4_Missense_Mutation_p.K114N NM_001005739.1|NM_016516.2 NP_001005739.1|NP_057600.2 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 TAAAATGTTCCTTGCTGATCT 0.358 5 92 --- --- --- --- GPR155 151556 broad.mit.edu 37 2 175301023 175301023 + Missense_Mutation SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr2:175301023C>A ENST00000392552.2 - 16 2672 c.2434G>T c.(2434-2436)Ggg>Tgg p.G812W GPR155_ENST00000295500.4_Missense_Mutation_p.G812W|GPR155_ENST00000392551.2_Missense_Mutation_p.G812W NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 812 DEP. intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 ATGACTCCCCCTTGTACCAGC 0.483 5 190 --- --- --- --- INPP5D 3635 broad.mit.edu 37 2 233925310 233925310 + Missense_Mutation SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr2:233925310C>T ENST00000359570.5 + 1 122 c.122C>T c.(121-123)gCg>gTg p.A41V INPP5D_ENST00000538935.1_Missense_Mutation_p.A41V Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 41 SH2. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CGGGCATACGCGCTCTGCGTG 0.612 12 51 --- --- --- --- MME 4311 broad.mit.edu 37 3 154861330 154861330 + Silent SNP A A G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr3:154861330A>G ENST00000460393.1 + 13 1407 c.1287A>G c.(1285-1287)gaA>gaG p.E429E MME_ENST00000492661.1_Silent_p.E429E|MME_ENST00000462745.1_Silent_p.E429E|MME_ENST00000360490.2_Silent_p.E429E|MME_ENST00000493237.1_Silent_p.E429E NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 429 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTTATGTGGAAGCAGCATTTG 0.413 20 91 --- --- --- --- TMPRSS11A 339967 broad.mit.edu 37 4 68784775 68784775 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr4:68784775G>T ENST00000508048.1 - 8 900 c.865C>A c.(865-867)Cag>Aag p.Q289K TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.Q293K|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.Q290K Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 293 Peptidase S1. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 AAACAAATCTGGCGTATGTCA 0.458 4 122 --- --- --- --- CCSER1 401145 broad.mit.edu 37 4 91229733 91229733 + Missense_Mutation SNP A A C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr4:91229733A>C ENST00000509176.1 + 2 586 c.298A>C c.(298-300)Atg>Ctg p.M100L CCSER1_ENST00000432775.2_Missense_Mutation_p.M100L|CCSER1_ENST00000333691.8_Missense_Mutation_p.M100L NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 TCACAGCAATATGCAGAAACT 0.408 5 85 --- --- --- --- ADCY2 108 broad.mit.edu 37 5 7626342 7626342 + Silent SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr5:7626342C>A ENST00000338316.4 + 4 722 c.633C>A c.(631-633)ctC>ctA p.L211L NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 211 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 ATAAGCACCTCATGGAACTCG 0.448 5 158 --- --- --- --- TRIO 7204 broad.mit.edu 37 5 14363859 14363859 + Missense_Mutation SNP T T G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr5:14363859T>G ENST00000344204.4 + 14 2434 c.2410T>G c.(2410-2412)Tct>Gct p.S804A TRIO_ENST00000509967.2_Missense_Mutation_p.S755A|TRIO_ENST00000537187.1_Missense_Mutation_p.S804A NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 804 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AGACCTCGAGTCTTGGAATGA 0.438 6 85 --- --- --- --- MAST4 375449 broad.mit.edu 37 5 66458987 66458987 + Missense_Mutation SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr5:66458987C>T ENST00000404260.3 + 29 4297 c.3989C>T c.(3988-3990)tCc>tTc p.S1330F MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F|MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F|MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F|MAST4_ENST00000403625.2_Missense_Mutation_p.S1327F O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1330 Ser-rich. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) ACTAATTCCTCCCAGAGCAGC 0.552 12 222 --- --- --- --- PCDHA4 56144 broad.mit.edu 37 5 140187047 140187047 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr5:140187047G>T ENST00000530339.1 + 1 275 c.275G>T c.(274-276)cGg>cTg p.R92L PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R92L|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R92L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGATCGACCGGGAGGAGCTG 0.622 6 262 --- --- --- --- HAVCR2 84868 broad.mit.edu 37 5 156533896 156533896 + Missense_Mutation SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr5:156533896C>A ENST00000307851.4 - 2 866 c.136G>T c.(136-138)Ggg>Tgg p.G46W HAVCR2_ENST00000522593.1_Missense_Mutation_p.G46W|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 46 Ig-like V-type. integral to membrane cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACGAGGTTCCCTGGGGCGGCT 0.562 5 210 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13228134 13228134 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr6:13228134G>A ENST00000379350.1 + 8 1202 c.1073G>A c.(1072-1074)gGc>gAc p.G358D PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358D|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213D|PHACTR1_ENST00000379345.2_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 358 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GGACCTATGGGCCTTCCAGAA 0.483 18 160 --- --- --- --- TRIM39-RPP21 202658 broad.mit.edu 37 6 30314525 30314525 + Missense_Mutation SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr6:30314525C>A ENST00000513556.1 + 10 1186 c.1186C>A c.(1186-1188)Cac>Aac p.H396N RPP21_ENST00000442966.2_Missense_Mutation_p.H135N|RPP21_ENST00000433076.2_Missense_Mutation_p.H143N|RPP21_ENST00000436442.2_Missense_Mutation_p.P137Q|RPP21_ENST00000428040.2_Missense_Mutation_p.H158N NM_001199119.1 NP_001186048.1 A6ZJ12 A6ZJ12_HUMAN 396 intracellular zinc ion binding AAACACAGCCCACTCCATTTC 0.438 5 204 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97823753 97823753 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr7:97823753G>T ENST00000297293.5 + 11 4269 c.3976G>T c.(3976-3978)Gac>Tac p.D1326Y NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1326 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CAGCAACGAGGACGGAAGGCA 0.622 29 89 --- --- --- --- SLC13A4 26266 broad.mit.edu 37 7 135366383 135366383 + Missense_Mutation SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr7:135366383C>A ENST00000354042.4 - 16 2498 c.1809G>T c.(1807-1809)tgG>tgT p.W603C SLC13A4_ENST00000491630.1_5'UTR|C7orf73_ENST00000422968.1_Intron NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 603 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 GGCTAACTCCCCAGGTGTTGA 0.537 4 49 --- --- --- --- OR2A2 442361 broad.mit.edu 37 7 143806792 143806792 + Silent SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr7:143806792G>T ENST00000408979.2 + 1 186 c.117G>T c.(115-117)ctG>ctT p.L39L NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) TCACCCTGCTGGGGAATGGGG 0.512 5 182 --- --- --- --- ESYT2 57488 broad.mit.edu 37 7 158534551 158534551 + Missense_Mutation SNP G G C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr7:158534551G>C ENST00000251527.5 - 17 1977 c.1912C>G c.(1912-1914)Cac>Gac p.H638D ESYT2_ENST00000435514.2_Missense_Mutation_p.H73D NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 666 S -> G (in dbSNP:rs2305473). integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GAGTGTTGGTGGTCTGGAGGC 0.478 26 98 --- --- --- --- ARFGEF1 10565 broad.mit.edu 37 8 68178397 68178397 + Missense_Mutation SNP G G C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr8:68178397G>C ENST00000262215.3 - 14 2356 c.1967C>G c.(1966-1968)cCt>cGt p.P656R ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110R NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 656 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding p.P656H(1) breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TATTGTCTCAGGGTGTTTGAT 0.373 9 42 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70541903 70541903 + Missense_Mutation SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr8:70541903C>A ENST00000260128.4 + 19 2990 c.2273C>A c.(2272-2274)cCg>cAg p.P758Q SULF1_ENST00000458141.2_Missense_Mutation_p.P758Q|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.P758Q|SULF1_ENST00000419716.3_Missense_Mutation_p.P758Q NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 758 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) CAGACAGCCCCGTTCTGGAAC 0.522 4 158 --- --- --- --- FAM135B 51059 broad.mit.edu 37 8 139180230 139180230 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr8:139180230G>A ENST00000395297.1 - 12 1336 c.1166C>T c.(1165-1167)cCc>cTc p.P389L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 389 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGGCAGCGGGGGCATGCTAGT 0.602 HNSCC(54;0.14) 27 111 --- --- --- --- CNTLN 54875 broad.mit.edu 37 9 17273768 17273768 + Missense_Mutation SNP T T C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr9:17273768T>C ENST00000380647.3 + 6 971 c.887T>C c.(886-888)gTt>gCt p.V296A CNTLN_ENST00000380641.4_Missense_Mutation_p.V296A|CNTLN_ENST00000262360.5_Missense_Mutation_p.V296A|CNTLN_ENST00000425824.1_Missense_Mutation_p.V296A Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 296 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AGGAAAGAAGTTGAAGTATCA 0.308 14 83 --- --- --- --- GBGT1 26301 broad.mit.edu 37 9 136029061 136029061 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr9:136029061G>T ENST00000372040.3 - 7 1258 c.947C>A c.(946-948)cCc>cAc p.P316H GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Missense_Mutation_p.P299H|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000372043.3_3'UTR NM_001282629.1 NP_001269558.1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05) GAGGTACTCGGGGGACAGCAC 0.587 6 184 --- --- --- --- PAPSS2 9060 broad.mit.edu 37 10 89505689 89505689 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr10:89505689G>A ENST00000361175.4 + 12 2176 c.1807G>A c.(1807-1809)Gtc>Atc p.V603I PAPSS2_ENST00000427144.2_Missense_Mutation_p.V607I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V608I NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 603 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) AGCATGGAAGGTCCTGACAGA 0.463 7 100 --- --- --- --- CYP2C9 1559 broad.mit.edu 37 10 96741067 96741067 + Silent SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr10:96741067C>A ENST00000260682.6 + 7 1101 c.1089C>A c.(1087-1089)ccC>ccA p.P363P NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 363 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) ACCTTCTCCCCACCAGCCTGC 0.502 6 144 --- --- --- --- NT5C2 22978 broad.mit.edu 37 10 104866420 104866420 + Silent SNP A A C rs146517994 TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr10:104866420A>C ENST00000343289.5 - 4 306 c.219T>G c.(217-219)acT>acG p.T73T NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000423468.2_Silent_p.T44T|NT5C2_ENST00000404739.3_Silent_p.T73T NM_001134373.2|NM_012229.4 NP_001127845.1|NP_036361.1 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 73 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1) 16 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) ATCTCTCCACAGTAAGCTCAA 0.388 5 164 --- --- --- --- FADS2 9415 broad.mit.edu 37 11 61607856 61607856 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr11:61607856G>T ENST00000278840.4 + 3 999 c.369G>T c.(367-369)atG>atT p.M123I FADS2_ENST00000257261.6_Missense_Mutation_p.M101I|FADS2_ENST00000521849.1_Missense_Mutation_p.M123I|FADS2_ENST00000522056.1_Missense_Mutation_p.M92I NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 123 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) CTGAGGACATGAACCTGTTCA 0.542 5 155 --- --- --- --- P2RX2 22953 broad.mit.edu 37 12 133197878 133197878 + Missense_Mutation SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr12:133197878C>A ENST00000389110.3 + 9 980 c.943C>A c.(943-945)Cgc>Agc p.R315S P2RX2_ENST00000352418.4_Missense_Mutation_p.R243S|P2RX2_ENST00000348800.5_Missense_Mutation_p.R315S|P2RX2_ENST00000351222.4_Missense_Mutation_p.R223S|P2RX2_ENST00000343948.4_Missense_Mutation_p.R315S|P2RX2_ENST00000350048.5_Missense_Mutation_p.R291S|P2RX2_ENST00000449132.2_Missense_Mutation_p.R281S NM_170682.2|NM_170683.2|NM_174873.1 NP_733782.1|NP_733783.1|NP_777362.1 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X, ligand-gated ion channel, 2 315 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3) 20 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) CACCACCACCCGCACGCTCAT 0.612 5 207 --- --- --- --- SAV1 60485 broad.mit.edu 37 14 51132078 51132078 + Silent SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr14:51132078C>A ENST00000324679.4 - 2 717 c.354G>T c.(352-354)acG>acT p.T118T NM_021818.3 NP_068590.1 Q9H4B6 SAV1_HUMAN salvador homolog 1 (Drosophila) 118 hippo signaling cascade cytoplasm|nucleus identical protein binding breast(1)|kidney(2)|lung(2)|prostate(1) 6 all_epithelial(31;0.000611)|Breast(41;0.0333) AACTAACTTCCGTTACAAATG 0.403 3 19 --- --- --- --- MAGEL2 54551 broad.mit.edu 37 15 23890498 23890498 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr15:23890498G>A ENST00000532292.1 - 1 677 c.583C>T c.(583-585)Cct>Tct p.P195S NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) AGAGAGGCAGGCTGAAACTGG 0.582 8 89 --- --- --- --- FAM214A 56204 broad.mit.edu 37 15 52901525 52901525 + Missense_Mutation SNP T T G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr15:52901525T>G ENST00000261844.7 - 6 1738 c.1586A>C c.(1585-1587)aAt>aCt p.N529T FAM214A_ENST00000546305.2_Missense_Mutation_p.N536T NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 529 CTTCAACAAATTTTTGTCTTC 0.383 31 85 --- --- --- --- ACAN 176 broad.mit.edu 37 15 89400579 89400579 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr15:89400579G>T ENST00000439576.2 + 12 5137 c.4763G>T c.(4762-4764)gGg>gTg p.G1588V ACAN_ENST00000561243.1_Missense_Mutation_p.G1588V|ACAN_ENST00000559004.1_Missense_Mutation_p.G1588V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1588V NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1588 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GACCTCAGTGGGTTGCCTTCT 0.537 5 165 --- --- --- --- MCTP2 55784 broad.mit.edu 37 15 95013613 95013613 + Silent SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr15:95013613G>A ENST00000357742.4 + 20 2412 c.2412G>A c.(2410-2412)ctG>ctA p.L804L MCTP2_ENST00000451018.3_Silent_p.L749L NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 804 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GTTTGATTCTGGCAGCAGCCA 0.418 4 171 --- --- --- --- LUC7L 55692 broad.mit.edu 37 16 242931 242931 + Missense_Mutation SNP G G C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr16:242931G>C ENST00000337351.4 - 7 894 c.771C>G c.(769-771)agC>agG p.S257R LUC7L_ENST00000397780.1_Missense_Mutation_p.S204R|LUC7L_ENST00000397783.1_Missense_Mutation_p.S257R|LUC7L_ENST00000293872.8_Missense_Mutation_p.S257R NM_018032.3 NP_060502.1 Q9NQ29 LUC7L_HUMAN LUC7-like (S. cerevisiae) 257 Arg/Ser-rich. metal ion binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CTCACCTCCTGCTCAGACGCT 0.552 16 229 --- --- --- --- C16orf89 146556 broad.mit.edu 37 16 5094359 5094359 + Missense_Mutation SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr16:5094359C>T ENST00000422873.1 - 8 1277 c.1190G>A c.(1189-1191)aGc>aAc p.S397N C16orf89_ENST00000315997.5_3'UTR|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|C16orf89_ENST00000350219.4_3'UTR|C16orf89_ENST00000474471.3_3'UTR|ALG1_ENST00000588623.1_Intron NM_001098514.2 NP_001091984.2 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 0 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 TCAGCGGCTGCTTGGTGGTGG 0.602 9 111 --- --- --- --- GDPD3 79153 broad.mit.edu 37 16 30122799 30122799 + Missense_Mutation SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr16:30122799C>A ENST00000406256.3 - 7 994 c.617G>T c.(616-618)tGg>tTg p.W206L NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 206 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 AAGCAGCACCCAGAATCCTCG 0.557 5 176 --- --- --- --- SLC38A8 146167 broad.mit.edu 37 16 84050752 84050752 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr16:84050752G>T ENST00000299709.3 - 7 945 c.946C>A c.(946-948)Ctg>Atg p.L316M NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 316 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CACCTCCCCAGGAAGAGCACG 0.567 4 53 --- --- --- --- ZNF594 84622 broad.mit.edu 37 17 5085657 5085657 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr17:5085657G>A ENST00000399604.4 - 1 2035 c.1895C>T c.(1894-1896)tCt>tTt p.S632F ZNF594_ENST00000575779.1_Missense_Mutation_p.S632F Q96JF6 ZN594_HUMAN zinc finger protein 594 632 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 ACCCCTAAAAGATTTCCCACA 0.398 11 174 --- --- --- --- JUP 3728 broad.mit.edu 37 17 39919332 39919332 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr17:39919332G>T ENST00000393931.3 - 8 1518 c.1400C>A c.(1399-1401)cCt>cAt p.P467H JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.P467H|JUP_ENST00000310706.5_Missense_Mutation_p.P467H NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 467 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CTCGGCCTCAGGGTGGCGGCT 0.617 4 69 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696424 47696424 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr17:47696424G>T ENST00000393331.3 - 7 869 c.399C>A c.(397-399)ttC>ttA p.F133L SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133L(7) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TGAATTTCTTGAATCCCCAGT 0.448 Prostate(2;0.17) 27 117 --- --- --- --- USP36 57602 broad.mit.edu 37 17 76803039 76803039 + Splice_Site SNP A A C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr17:76803039A>C ENST00000542802.3 - 14 2529 c.e14+1 USP36_ENST00000449938.2_Splice_Site|USP36_ENST00000312010.6_Splice_Site Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CCACACACCCACCTTCTTGGC 0.567 8 90 --- --- --- --- SS18 6760 broad.mit.edu 37 18 23612376 23612376 + Missense_Mutation SNP T T G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr18:23612376T>G ENST00000415083.2 - 10 1272 c.1217A>C c.(1216-1218)tAt>tCt p.Y406S SS18_ENST00000545952.1_Missense_Mutation_p.Y323S|SS18_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S|SS18_ENST00000539849.1_Missense_Mutation_p.Y324S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S NM_001007559.1|NM_005637.2 NP_001007560.1|NP_005628.2 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 406 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) GTCATATCCATAAGGCCTCTG 0.453 T """SSX1, SSX2""" synovial sarcoma 6 196 --- --- --- --- AQP4 361 broad.mit.edu 37 18 24436180 24436180 + Missense_Mutation SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr18:24436180C>A ENST00000383168.4 - 5 1095 c.967G>T c.(967-969)Gta>Tta p.V323L AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.V301L|AQP4_ENST00000440832.3_Missense_Mutation_p.V301L|AQP4-AS1_ENST00000582605.1_RNA NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 323 cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) TCTAGTCATACTGAAGACAAT 0.433 4 239 --- --- --- --- ZNF845 91664 broad.mit.edu 37 19 53855875 53855875 + Missense_Mutation SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr19:53855875C>A ENST00000458035.1 + 4 2064 c.1947C>A c.(1945-1947)aaC>aaA p.N649K ZNF845_ENST00000595091.1_Missense_Mutation_p.N649K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 649 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TCAAATCAAACCTTCAAAGAC 0.398 3 36 --- --- --- --- ZFP28 140612 broad.mit.edu 37 19 57065372 57065372 + Silent SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr19:57065372G>T ENST00000301318.3 + 8 1289 c.1218G>T c.(1216-1218)gtG>gtT p.V406V AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) AAAGTTCAGTGGTAATAAAAC 0.318 5 126 --- --- --- --- ZSCAN1 284312 broad.mit.edu 37 19 58549488 58549488 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr19:58549488G>T ENST00000282326.1 + 3 531 c.284G>T c.(283-285)cGg>cTg p.R95L ZSCAN1_ENST00000391700.1_Missense_Mutation_p.R95L|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.R95L NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 95 SCAN box. 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) AGCAAGATGCGGACCTGGGTG 0.687 5 20 --- --- --- --- COL6A1 1291 broad.mit.edu 37 21 47423618 47423618 + Silent SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr21:47423618C>T ENST00000361866.3 + 35 2892 c.2778C>T c.(2776-2778)ttC>ttT p.F926F COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 926 C-terminal globular domain.|VWFA 3. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) TGACCCGCTTCTACCGCGAGG 0.642 7 27 --- --- --- --- RNF215 200312 broad.mit.edu 37 22 30776081 30776081 + Silent SNP C C A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr22:30776081C>A ENST00000382363.3 - 7 1052 c.978G>T c.(976-978)gcG>gcT p.A326A NM_001017981.1 NP_001017981.1 Q9Y6U7 RN215_HUMAN ring finger protein 215 326 integral to membrane zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 CCAGGCACACCGCACAGGTCT 0.647 4 147 --- --- --- --- ACR 49 broad.mit.edu 37 22 51178322 51178322 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr22:51178322G>A ENST00000216139.5 + 3 522 c.482G>A c.(481-483)gGc>gAc p.G161D ACR_ENST00000529621.1_Missense_Mutation_p.G161D NM_001097.2 NP_001088.2 P10323 ACRO_HUMAN acrosin 161 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) ATTGGGCCGGGCTGCCTGCCC 0.567 18 104 --- --- --- ---