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 WHAMMP3 339005 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 3 28 0 0 0.004672 0 0 ITPR1 3708 broad.mit.edu 37 3 4725969 4725969 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr3:4725969G>A ENST00000302640.8 + 28 3808 c.3458G>A c.(3457-3459)gGa>gAa p.G1153E ITPR1_ENST00000456211.2_Missense_Mutation_p.G1144E|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1159E|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1153E|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1159E|ITPR1_ENST00000354582.6_Missense_Mutation_p.G1168E|ITPR1_ENST00000544951.1_Intron NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1168 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TTCTAGGAGGGAAATAACAAG 0.433000 3 14 0 0 0.001168 0 0 TMEM74B 55321 broad.mit.edu 37 20 1161909 1161909 + Silent SNP C C T rs139413230 TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr20:1161909C>T ENST00000381894.3 - 2 1025 c.354G>A c.(352-354)ccG>ccA p.P118P NM_018354.1 NP_060824.1 Q9NUR3 CT046_HUMAN transmembrane protein 74B 118 integral to membrane protein binding CATAATCCACCGGGCGGCTCA 0.627000 22 94 0 0 0.010504 0 0 ANKRD30BL 554226 broad.mit.edu 37 2 132905790 132905790 + Missense_Mutation SNP C C G TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr2:132905790C>G ENST00000409867.1 - 6 940 c.691G>C c.(691-693)Gaa>Caa p.E231Q ANKRD30BL_ENST00000470729.1_5'UTR ankyrin repeat domain 30B-like endometrium(1)|kidney(3) 4 GGTGTTCCTTCAGATGTTCCT 0.443000 6 24 0 0 0.001984 0 0 PER3 8863 broad.mit.edu 37 1 7902814 7902814 + Nonstop_Mutation SNP G G C TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr1:7902814G>C ENST00000377532.3 + 21 3856 c.3632G>C c.(3631-3633)tGa>tCa p.*1211S PER3_ENST00000361923.2_Nonstop_Mutation_p.*1202S P56645 PER3_HUMAN period circadian clock 3 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GACAGCTGTTGAGTGACTGTG 0.438000 24 77 0 0 0.021523 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205098 23205098 + RNA SNP G G A rs146035894 by1000genomes TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr15:23205098G>A ENST00000400153.2 - 0 756 NR_003521.1 CTGGAAGAACGTGGTTGCCAC 0.373000 4 30 0 0 0.009096 0 0 CACNA1F 778 broad.mit.edu 37 X 49089767 49089767 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chrX:49089767G>A ENST00000376265.2 - 1 66 c.5C>T c.(4-6)tCg>tTg p.S2L CACNA1F_ENST00000376251.1_Missense_Mutation_p.S2L|CACNA1F_ENST00000323022.5_Missense_Mutation_p.S2L NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 2 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) TTCAGATTCCGACATCTTTCT 0.577000 23 13 0 0 0.006320 0 0 ASIC1 41 broad.mit.edu 37 12 50475373 50475373 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr12:50475373G>A ENST00000228468.4 + 12 2051 c.1666G>A c.(1666-1668)Gct>Act p.A556T ASIC1_ENST00000552438.1_Missense_Mutation_p.A544T|ASIC1_ENST00000447966.2_Missense_Mutation_p.A510T NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 510 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GATGACATACGCTGCCAACAT 0.642000 5 48 0 0 0.001984 0 0 CSMD3 114788 broad.mit.edu 37 8 113241072 113241072 + Missense_Mutation SNP G G T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr8:113241072G>T ENST00000297405.5 - 70 11121 c.10877C>A c.(10876-10878)aCa>aAa p.T3626K CSMD3_ENST00000343508.3_Missense_Mutation_p.T3586K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3457K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3556K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3626 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACTACTATTTGTACCATGAGG 0.279000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 75 3.73194e-20 4.15956e-20 0.010504 1 0 CAP1 10487 broad.mit.edu 37 1 40530008 40530008 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr1:40530008G>A ENST00000372797.3 + 5 965 c.404G>A c.(403-405)aGc>aAc p.S135N CAP1_ENST00000340450.3_Missense_Mutation_p.S134N|CAP1_ENST00000372798.1_Missense_Mutation_p.S134N|CAP1_ENST00000372792.2_Missense_Mutation_p.S135N|CAP1_ENST00000372805.3_Missense_Mutation_p.S135N|CAP1_ENST00000372802.1_Missense_Mutation_p.S134N NM_001105530.1|NM_006367.3 NP_001099000.1|NP_006358.1 Q01518 CAP1_HUMAN CAP, adenylate cyclase-associated protein 1 (yeast) 135 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding p.S135N(1) endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCAGCTGTCAGCGAAAGTATC 0.512000 4 116 0 0 0.009096 0 0 TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr17:7578271T>A ENST00000420246.2 - 6 710 c.578A>T c.(577-579)cAt>cTt p.H193L TP53_ENST00000455263.2_Missense_Mutation_p.H193L|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCGGATAAGATGCTGAGGAGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 13 29 0 0 0.003163 0 0 SORCS3 22986 broad.mit.edu 37 10 106907398 106907398 + Silent SNP C C T rs147429425 by1000genomes TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr10:106907398C>T ENST00000369701.3 + 9 1553 c.1326C>T c.(1324-1326)gaC>gaT p.D442D NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 442 integral to membrane neuropeptide receptor activity p.D442D(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCAGTACAGACGAGAACCAAG 0.473000 19 58 0 0 0.008871 0 0 CASP8 841 broad.mit.edu 37 2 202131411 202131411 + Nonsense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr2:202131411C>T ENST00000358485.4 + 2 575 c.379C>T c.(379-381)Cga>Tga p.R127* CASP8_ENST00000264274.9_Nonsense_Mutation_p.R68*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R68*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R68*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.R68*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.R68* NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 68 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.R127*(1)|p.R68*(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 GCTGCTCTTCCGAATTAATAG 0.453000 HNSCC(4;0.00038) 16 49 0 0 0.003163 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13941278 13941278 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr19:13941278C>T ENST00000254323.2 + 13 2573 c.2384C>T c.(2383-2385)gCg>gTg p.A795V ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A629V NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 795 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GTGCTGGACGCGGCGGCCGGC 0.697000 64 81 0 0 0.014410 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736856 12736856 + Missense_Mutation SNP T T G TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chrX:12736856T>G ENST00000380682.1 + 16 4417 c.3911T>G c.(3910-3912)tTt>tGt p.F1304C NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1304 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 GAACCCCTGTTTGGCACATTG 0.507000 72 67 0 0 0.014410 0 0 GPR155 151556 broad.mit.edu 37 2 175301127 175301127 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr2:175301127G>A ENST00000392552.2 - 16 2568 c.2330C>T c.(2329-2331)tCt>tTt p.S777F GPR155_ENST00000392551.2_Missense_Mutation_p.S777F|GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Missense_Mutation_p.S777F NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 777 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 AGTTCCAGCAGAAGTCTTTGC 0.473000 33 62 0 0 0.012213 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 3 67 0 0 0.004672 0 0 OASL 8638 broad.mit.edu 37 12 121465598 121465598 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr12:121465598C>T ENST00000257570.5 - 4 950 c.680G>A c.(679-681)aGa>aAa p.R227K OASL_ENST00000339275.5_Intron NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 227 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAGATTGGCTCTGGGGGACCT 0.488000 25 39 0 0 0.006320 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702779 27702779 + Missense_Mutation SNP A A C TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr10:27702779A>C ENST00000438700.3 - 1 518 c.401T>G c.(400-402)gTg>gGg p.V134G NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 134 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GTGCGCGCCCACCTGCCACCC 0.672000 5 32 0 0 0.004482 0 0 COL6A1 1291 broad.mit.edu 37 21 47409674 47409674 + Silent SNP A A G TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr21:47409674A>G ENST00000361866.3 + 11 1026 c.912A>G c.(910-912)aaA>aaG p.K304K NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 304 Triple-helical region. 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) AGGGAGAAAAAGGGAGCCGTG 0.637000 3 115 0 0 0.014758 0 0 CEP72 55722 broad.mit.edu 37 5 637680 637680 + Nonsense_Mutation SNP C C G TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr5:637680C>G ENST00000264935.5 + 7 1043 c.953C>G c.(952-954)tCa>tGa p.S318* CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 318 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) TTGGATTTGTCAGGAGAAATG 0.552000 15 108 0 0 0.004007 0 0 WDR18 57418 broad.mit.edu 37 19 989771 989771 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr19:989771G>A ENST00000251289.5 + 3 354 c.331G>A c.(331-333)Ggg>Agg p.G111R WDR18_ENST00000587001.2_Missense_Mutation_p.G111R|WDR18_ENST00000591997.1_3'UTR NM_024100.3 NP_077005.2 Q9BV38 WDR18_HUMAN WD repeat domain 18 111 p.G111W(1) endometrium(1)|kidney(2)|lung(2)|skin(2) 7 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCTCCACCGGGAACCTTCT 0.632000 18 79 0 0 0.008871 0 0 BEST3 144453 broad.mit.edu 37 12 70049468 70049468 + Missense_Mutation SNP C C G TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr12:70049468C>G ENST00000330891.5 - 10 1452 c.1226G>C c.(1225-1227)aGa>aCa p.R409T BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R303T|BEST3_ENST00000488961.1_Missense_Mutation_p.R196T NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 409 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GCTTCTTCTTCTGGGGCTGGA 0.552000 65 102 0 0 0.014410 0 0 CSMD1 64478 broad.mit.edu 37 8 3565950 3565950 + Missense_Mutation SNP T T C TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr8:3565950T>C ENST00000520002.1 - 7 1550 c.995A>G c.(994-996)cAt>cGt p.H332R CSMD1_ENST00000602723.1_Missense_Mutation_p.H332R|CSMD1_ENST00000400186.3_Missense_Mutation_p.H332R|CSMD1_ENST00000602557.1_Missense_Mutation_p.H332R|CSMD1_ENST00000542608.1_Missense_Mutation_p.H332R|CSMD1_ENST00000539096.1_Missense_Mutation_p.H332R|CSMD1_ENST00000537824.1_Missense_Mutation_p.H332R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 332 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGAGTTTTTATGGCTTCCATC 0.463000 18 32 0 0 0.008871 0 0 BTNL8 79908 broad.mit.edu 37 5 180335650 180335650 + Missense_Mutation SNP C C A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr5:180335650C>A ENST00000231229.4 + 2 348 c.114C>A c.(112-114)ttC>ttA p.F38L BTNL8_ENST00000340184.4_Missense_Mutation_p.F38L|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.F38L|BTNL8_ENST00000400707.3_Intron NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 38 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACGCAGCATTCTCCTGTTTCC 0.552000 37 70 2.47872e-24 2.82153e-24 0.010771 1 0 TNRC6B 23112 broad.mit.edu 37 22 40669448 40669448 + Silent SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr22:40669448C>T ENST00000454349.2 + 7 3196 c.2985C>T c.(2983-2985)gaC>gaT p.D995D TNRC6B_ENST00000335727.8_Silent_p.D942D|TNRC6B_ENST00000301923.9_Silent_p.D248D|TNRC6B_ENST00000402203.1_Silent_p.D248D NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 995 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CTATGCAAGACGGCTGGGGGG 0.483000 5 6 0 0 0.014758 0 0 LRRFIP2 9209 broad.mit.edu 37 3 37095356 37095356 + Missense_Mutation SNP G G C TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr3:37095356G>C ENST00000421307.1 - 29 2574 c.2152C>G c.(2152-2154)Ctg>Gtg p.L718V LRRFIP2_ENST00000421276.2_Missense_Mutation_p.L421V|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.L397V|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.L500V|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.L718V|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.L421V NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 718 Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 TGCTGGGCCAGAAGTGCTGTC 0.532000 36 77 0 0 0.019004 0 0 SPATA2 9825 broad.mit.edu 37 20 48524766 48524766 + Missense_Mutation SNP C C A rs150565930 TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr20:48524766C>A ENST00000422556.1 - 2 611 c.262G>T c.(262-264)Gcc>Tcc p.A88S SPATA2_ENST00000543716.1_Intron|SPATA2_ENST00000289431.5_Missense_Mutation_p.A88S NM_001135773.1 NP_001129245.1 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 88 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) ATGCTGAAGGCGCCGTGCAGA 0.577000 46 98 3.21987e-24 3.62659e-24 0.014410 1 0 FAM24A 118670 broad.mit.edu 37 10 124671218 124671218 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr10:124671218C>T ENST00000368894.1 + 2 189 c.68C>T c.(67-69)gCg>gTg p.A23V NM_001029888.1 NP_001025059.1 A6NFZ4 FA24A_HUMAN family with sequence similarity 24, member A 23 extracellular region large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 9 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) CTGGTTGCCGCGATGGTGCTC 0.473000 6 427 0 0 0.004482 0 0 LOC645752 645752 broad.mit.edu 37 15 78211241 78211241 + RNA SNP T T A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr15:78211241T>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TCCCACAGCCTCTTTTCCTGC 0.572000 101 260 0 0 0.014410 0 0 WBSCR17 64409 broad.mit.edu 37 7 70885987 70885987 + Missense_Mutation SNP G G T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr7:70885987G>T ENST00000333538.5 + 5 1492 c.858G>T c.(856-858)caG>caT p.Q286H WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 286 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TTGAGGTGCAGCGGTACGAGA 0.582000 37 133 1.90571e-15 2.08072e-15 0.019004 1 0 SHB 6461 broad.mit.edu 37 9 37919970 37919970 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr9:37919970C>T ENST00000377707.3 - 6 1943 c.1378G>A c.(1378-1380)Gcc>Acc p.A460T RP11-613M10.9_ENST00000540557.1_Intron NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 460 SH2. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TTGGTTTTGGCCAGTTTCATG 0.502000 4 92 0 0 0.009096 0 0 MED12L 116931 broad.mit.edu 37 3 151082800 151082800 + Silent SNP T T C TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr3:151082800T>C ENST00000474524.1 + 20 2924 c.2886T>C c.(2884-2886)taT>taC p.Y962Y P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.Y822Y NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 962 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AAACCATATATAATAACGTGA 0.353000 68 246 0 0 0.014410 0 0 KIF4B 285643 broad.mit.edu 37 5 154394891 154394891 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr5:154394891C>T ENST00000435029.4 + 1 1632 c.1472C>T c.(1471-1473)gCg>gTg p.A491V NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 491 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATTGATACTGCGGTAGAAGAA 0.443000 16 114 0 0 0.006122 0 0 TAAR2 9287 broad.mit.edu 37 6 132938773 132938773 + Missense_Mutation SNP T T G TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr6:132938773T>G ENST00000275191.2 - 1 544 c.437A>C c.(436-438)tAt>tCt p.Y146S TAAR2_ENST00000537809.1_Missense_Mutation_p.Y146S|TAAR2_ENST00000367931.1_Missense_Mutation_p.Y191S NM_014626.3 NP_055441.2 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 191 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) CAAGATGTCATAGCCCTCTAT 0.493000 8 80 0 0 0.004482 0 0 TFCP2L1 29842 broad.mit.edu 37 2 121981961 121981961 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr2:121981961C>T ENST00000263707.5 - 15 1493 c.1396G>A c.(1396-1398)Gag>Aag p.E466K NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 466 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.E466Q(1) cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) TCATTGCTCTCAGCTGCAAGA 0.517000 17 32 0 0 0.006122 0 0 OR2M4 26245 broad.mit.edu 37 1 248402849 248402849 + Silent SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr1:248402849C>T ENST00000306687.1 + 1 619 c.619C>T c.(619-621)Cta>Tta p.L207L NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGTGGTAATGCTAATCTTTCC 0.433000 12 78 0 0 0.013537 0 0 DHX29 54505 broad.mit.edu 37 5 54603304 54603304 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr5:54603304G>A ENST00000251636.5 - 1 246 c.98C>T c.(97-99)gCc>gTc p.A33V NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 33 Ala-rich. ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) GGCCTCCCCGGCAATTCCAGC 0.662000 41 157 0 0 0.010771 0 0 ATXN2 6311 broad.mit.edu 37 12 111895024 111895024 + Silent SNP A A G TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr12:111895024A>G ENST00000377617.3 - 22 3671 c.3510T>C c.(3508-3510)ccT>ccC p.P1170P ATXN2_ENST00000542287.2_Silent_p.P905P|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Silent_p.P863P|ATXN2_ENST00000389153.4_Silent_p.P907P NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 1170 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 TTACCTGAACAGGACTGGGTG 0.537000 3 40 0 0 0.004672 0 0 EPHA2 1969 broad.mit.edu 37 1 16462185 16462185 + Nonsense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr1:16462185G>A ENST00000358432.5 - 6 1547 c.1393C>T c.(1393-1395)Cga>Tga p.R465* NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 465 Fibronectin type-III 2. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) TTCCACACTCGGCTCTGCTGC 0.662000 35 36 0 0 0.014410 0 0 DCT 1638 broad.mit.edu 37 13 95112446 95112446 + Missense_Mutation SNP T T C TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr13:95112446T>C ENST00000377028.5 - 6 1491 c.1078A>G c.(1078-1080)Act>Gct p.T360A DCT_ENST00000446125.1_Missense_Mutation_p.T360A NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 360 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) GAATCCAGAGTCCCATCTGCT 0.408000 8 26 0 0 0.006214 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395333 89395333 + RNA SNP A A G TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr11:89395333A>G ENST00000532352.1 + 0 731 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GCTTATAGGCATGGAATTGCA 0.348000 5 73 0 0 0.010729 0 0 PCLO 27445 broad.mit.edu 37 7 82785646 82785646 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr7:82785646C>T ENST00000423517.2 - 2 648 c.311G>A c.(310-312)cGt>cAt p.R104H PCLO_ENST00000333891.8_Missense_Mutation_p.R104H NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 104 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGAGCTGGACGCCCAGGGTC 0.428000 9 43 0 0 0.006214 0 0 PTPRM 5797 broad.mit.edu 37 18 7926657 7926657 + Silent SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr18:7926657G>A ENST00000332175.8 + 5 1676 c.639G>A c.(637-639)gtG>gtA p.V213V PTPRM_ENST00000400053.4_Silent_p.V151V|PTPRM_ENST00000400060.4_Silent_p.V213V|PTPRM_ENST00000580170.1_Silent_p.V213V NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 213 Ig-like C2-type. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GCAGGACCGTGGCAGGAGACA 0.522000 9 97 0 0 0.004482 0 0 PLSCR4 57088 broad.mit.edu 37 3 145912935 145912935 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr3:145912935C>T ENST00000354952.2 - 8 1161 c.921G>A c.(919-921)atG>atA p.M307I PLSCR4_ENST00000433593.2_Missense_Mutation_p.M202I|PLSCR4_ENST00000493382.1_Missense_Mutation_p.M307I|PLSCR4_ENST00000446574.2_Missense_Mutation_p.M307I|PLSCR4_ENST00000383083.2_Missense_Mutation_p.M217I NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 307 blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 CTCCAAAAATCATGGCTTTCA 0.398000 6 49 0 0 0.001168 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879889 39879889 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr1:39879889G>A ENST00000530275.1 + 1 3739 c.3544G>A c.(3544-3546)Gtg>Atg p.V1182M MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 1182 Ala-rich. central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) 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) CACCCCAGAGGTGCCTGCCAT 0.627000 6 37 0 0 0.001984 0 0 RREB1 6239 broad.mit.edu 37 6 7230732 7230732 + Silent SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr6:7230732G>A ENST00000379938.2 + 10 2937 c.2400G>A c.(2398-2400)gcG>gcA p.A800A RREB1_ENST00000349384.6_Silent_p.A800A|RREB1_ENST00000334984.6_Silent_p.A800A|RREB1_ENST00000379933.3_Silent_p.A800A NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 800 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCGCGTTCGCGGCCAAGCGCA 0.711000 4 19 0 0 0.014758 0 0 HOXD13 3239 broad.mit.edu 37 2 176958165 176958165 + Missense_Mutation SNP G G T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr2:176958165G>T ENST00000392539.3 + 1 547 c.547G>T c.(547-549)Gtg>Ttg p.V183L NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 183 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) GGCCAACGAGGTGCCAGCGCG 0.627000 T NUP98 AML* 12 53 0.00010058 0.00010551 0.013537 1 0 SON 6651 broad.mit.edu 37 21 34922496 34922496 + Missense_Mutation SNP C C G TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr21:34922496C>G ENST00000356577.4 + 3 1434 c.959C>G c.(958-960)cCa>cGa p.P320R SON_ENST00000381679.4_Missense_Mutation_p.P320R|SON_ENST00000300278.4_Missense_Mutation_p.P320R|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.P320R NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 320 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TACCCTGAGCCAAGCACATCA 0.468000 OREG0003564 type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 13 104 0 0 0.013537 0 0 SGIP1 84251 broad.mit.edu 37 1 67105475 67105475 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr1:67105475G>A ENST00000371037.4 + 5 264 c.187G>A c.(187-189)Gca>Aca p.A63T SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Missense_Mutation_p.A38T|SGIP1_ENST00000371039.1_Missense_Mutation_p.A39T|SGIP1_ENST00000237247.6_Missense_Mutation_p.A67T NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 63 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 AAGCAATGGGGCACCAAATGG 0.289000 14 53 0 0 0.020292 0 0 VN1R2 317701 broad.mit.edu 37 19 53762720 53762720 + Silent SNP T T C TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr19:53762720T>C ENST00000341702.3 + 1 1176 c.1092T>C c.(1090-1092)ccT>ccC p.P364P VN1R2_ENST00000598458.1_Intron NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 364 response to pheromone integral to membrane|plasma membrane pheromone receptor activity p.P364P(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) CTATTAGCCCTTTTGTTCTCA 0.433000 4 171 0 0 0.009096 0 0 ZNF197 10168 broad.mit.edu 37 3 44673621 44673621 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr3:44673621C>T ENST00000396058.1 + 3 742 c.575C>T c.(574-576)gCc>gTc p.A192V ZNF197_ENST00000383744.4_Missense_Mutation_p.A192V|ZNF197_ENST00000344387.4_Missense_Mutation_p.A192V|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Missense_Mutation_p.A192V O14709 ZN197_HUMAN zinc finger protein 197 192 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) GAAGCTTCTGCCCTTTCCCAG 0.498000 5 424 0 0 0.001984 0 0 NPAS3 64067 broad.mit.edu 37 14 34269100 34269100 + Silent SNP C C T rs148867285 TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr14:34269100C>T ENST00000346562.2 + 11 1565 c.1491C>T c.(1489-1491)gaC>gaT p.D497D NPAS3_ENST00000356141.4_Silent_p.D529D|NPAS3_ENST00000548645.1_Silent_p.D499D|NPAS3_ENST00000551492.1_Silent_p.D534D|NPAS3_ENST00000357798.5_Silent_p.D516D NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 529 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GCGACAGCGACGACAGCTTCG 0.637000 27 43 0 0 0.009535 0 0 SFI1 9814 broad.mit.edu 37 22 31979944 31979944 + Silent SNP C C G TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr22:31979944C>G ENST00000432498.1 + 12 1632 c.1239C>G c.(1237-1239)gcC>gcG p.A413A SFI1_ENST00000540643.1_Silent_p.A389A|SFI1_ENST00000414585.1_Silent_p.A291A|SFI1_ENST00000400288.2_Silent_p.A444A|SFI1_ENST00000400289.1_Silent_p.A362A|SFI1_ENST00000443011.1_Silent_p.A291A|SFI1_ENST00000443326.1_Silent_p.A362A NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 444 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 TGCATGCTGCCTGGGACCACT 0.517000 62 123 0 0 0.014410 0 0 YARS 8565 broad.mit.edu 37 1 33276553 33276553 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr1:33276553G>A ENST00000373477.4 - 2 1071 c.163C>T c.(163-165)Ccc>Tcc p.P55S NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 55 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity p.P55S(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) TTTGACATGGGCACAAAGTAA 0.488000 5 424 0 0 0.001168 0 0 HNRNPKP3 399881 broad.mit.edu 37 11 43284502 43284502 + RNA SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr11:43284502C>T ENST00000511537.1 - 0 433 NR_033868.1 ATGAGGACAGCATTCCCGGAA 0.408000 12 12 0 0 0.020292 0 0 HHIPL2 79802 broad.mit.edu 37 1 222696022 222696022 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr1:222696022C>T ENST00000343410.6 - 9 2154 c.2096G>A c.(2095-2097)aGg>aAg p.R699K HHIPL2_ENST00000473144.1_5'UTR NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 699 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GCTCTTCCTCCTCTTGCCCTG 0.567000 103 269 0 0 0.014410 0 0 FAM3B 54097 broad.mit.edu 37 21 42710379 42710379 + Missense_Mutation SNP A A G TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr21:42710379A>G ENST00000398652.3 + 4 421 c.355A>G c.(355-357)Agc>Ggc p.S119G FAM3B_ENST00000398647.3_Missense_Mutation_p.S32G|FAM3B_ENST00000398646.3_Missense_Mutation_p.S103G|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000357985.2_Missense_Mutation_p.S80G P58499 FAM3B_HUMAN family with sequence similarity 3, member B 80 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) CAGGTTACTCAGCGGAGGTGG 0.458000 4 123 0 0 0.009096 0 0 GPR162 27239 broad.mit.edu 37 12 6935885 6935885 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr12:6935885C>T ENST00000311268.3 + 5 2070 c.1283C>T c.(1282-1284)tCc>tTc p.S428F GPR162_ENST00000428545.2_Missense_Mutation_p.S144F|GPR162_ENST00000382315.3_Missense_Mutation_p.S124F NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 428 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 GAACCAGGCTCCTTCCTGCAC 0.612000 86 143 0 0 0.014410 0 0 KIAA1524 57650 broad.mit.edu 37 3 108288376 108288376 + Missense_Mutation SNP G G T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr3:108288376G>T ENST00000295746.8 - 9 1049 c.973C>A c.(973-975)Cca>Aca p.P325T KIAA1524_ENST00000491772.1_Missense_Mutation_p.P166T|KIAA1524_ENST00000487834.1_5'UTR NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 325 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CTGCCAGGTGGAGACTGTTCA 0.458000 6 25 1.06961e-07 1.14449e-07 0.003080 1 0 IGHG3 3502 broad.mit.edu 37 14 106237563 106237563 + RNA SNP C C G TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr14:106237563C>G ENST00000390551.2 - 0 179 GAGTAGAGTCCTGAGGACTGT 0.617000 13 99 0 0 0.016723 0 0 BCKDHA 593 broad.mit.edu 37 19 41920002 41920002 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr19:41920002G>A ENST00000269980.2 + 4 792 c.424G>A c.(424-426)Gtg>Atg p.V142M BCKDHA_ENST00000457836.2_Missense_Mutation_p.V120M|BCKDHA_ENST00000595085.1_Missense_Mutation_p.V176M|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.V176M NM_000709.3|NM_001164783.1 NP_000700.1|NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide 142 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 GGGCACGCACGTGGGGAGTGC 0.617000 16 83 0 0 0.008871 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395322 89395322 + RNA SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr11:89395322C>T ENST00000532352.1 + 0 720 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTCAGAATACGCTTATAGGC 0.343000 5 56 0 0 0.013537 0 0 NTRK1 4914 broad.mit.edu 37 1 156845368 156845368 + Silent SNP T T C TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr1:156845368T>C ENST00000368196.3 + 11 1513 c.1393T>C c.(1393-1395)Ttg>Ctg p.L465L NTRK1_ENST00000524377.1_Silent_p.L471L|NTRK1_ENST00000392302.2_Silent_p.L435L|NTRK1_ENST00000358660.3_Silent_p.L465L NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 471 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) TTTCATGACATTGGGTGGCAG 0.607000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 15 78 0 0 0.004007 0 0 ZNF507 22847 broad.mit.edu 37 19 32844652 32844652 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr19:32844652G>A ENST00000311921.3 + 2 1108 c.916G>A c.(916-918)Gtc>Atc p.V306I ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.V306I|ZNF507_ENST00000544431.1_Missense_Mutation_p.V306I NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) CGATGCAGTCGTCATTGCTAT 0.478000 19 177 0 0 0.016522 0 0 ENPEP 2028 broad.mit.edu 37 4 111441470 111441470 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr4:111441470C>T ENST00000265162.5 + 10 2017 c.1675C>T c.(1675-1677)Cgc>Tgc p.R559C NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 559 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CACACAGAAACGCTTTTTGTT 0.448000 34 30 0 0 0.019004 0 0 OR13C8 138802 broad.mit.edu 37 9 107332319 107332319 + Missense_Mutation SNP C C A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr9:107332319C>A ENST00000335040.1 + 1 871 c.871C>A c.(871-873)Ctt>Att p.L291I NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 GACTCCCATGCTTAATCCTCT 0.408000 20 68 8.04996e-18 8.87985e-18 0.012319 1 0 WHAMMP3 339005 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 4 32 0 0 0.009096 0 0 ABCA13 154664 broad.mit.edu 37 7 48314202 48314202 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr7:48314202C>T ENST00000435803.1 + 17 4963 c.4939C>T c.(4939-4941)Cat>Tat p.H1647Y NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1647 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GCCTGTAGTTCATCACACTAG 0.373000 60 137 0 0 0.014410 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 76 0 0 0.003080 0 0 VAX1 11023 broad.mit.edu 37 10 118896029 118896029 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr10:118896029C>T ENST00000277905.2 - 2 627 c.383G>A c.(382-384)cGc>cAc p.R128H VAX1_ENST00000369206.5_Missense_Mutation_p.R128H NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 128 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) GGTCCTCTCGCGGCCCACCAC 0.667000 15 40 0 0 0.007413 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588458 20588458 + RNA SNP G G C rs2291971 by1000genomes TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr15:20588458G>C ENST00000428453.1 - 0 4292 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TGCTGGCCATGACTGCAGTGC 0.458000 6 16 0 0 0.001168 0 0 ZNF426 79088 broad.mit.edu 37 19 9643595 9643595 + Missense_Mutation SNP T T A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr19:9643595T>A ENST00000593003.1 - 4 614 c.137A>T c.(136-138)cAg>cTg p.Q46L ZNF426_ENST00000589289.1_Missense_Mutation_p.Q84L|ZNF426_ENST00000535489.1_Missense_Mutation_p.Q84L|ZNF426_ENST00000253115.2_Missense_Mutation_p.Q84L Q9BUY5 ZN426_HUMAN zinc finger protein 426 84 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 TTTGATGATCTGACCTCCTGA 0.413000 24 119 0 0 0.021523 0 0 ZNF454 285676 broad.mit.edu 37 5 178369801 178369801 + Silent SNP C C A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr5:178369801C>A ENST00000320129.3 + 2 312 c.9C>A c.(7-9)gtC>gtA p.V3V ZNF454_ENST00000519564.1_Silent_p.V3V NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) GAATGGCTGTCAGCCACCTGC 0.537000 7 65 5.18039e-06 5.48814e-06 0.003080 1 0 PSME4 23198 broad.mit.edu 37 2 54120868 54120868 + Silent SNP T T C TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr2:54120868T>C ENST00000404125.1 - 35 4036 c.3981A>G c.(3979-3981)tcA>tcG p.S1327S PSME4_ENST00000421748.2_Silent_p.S471S NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1327 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TGTCTTCTAATGATAGAAAAG 0.289000 8 30 0 0 0.003080 0 0 ATP2A3 489 broad.mit.edu 37 17 3851149 3851149 + Splice_Site SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr17:3851149C>T ENST00000309890.7 - 8 781 c.630_splice c.e8-1 p.G211_splice ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Splice_Site_p.G211_splice|ATP2A3_ENST00000352011.3_Splice_Site_p.G211_splice|ATP2A3_ENST00000397043.3_Splice_Site_p.G211_splice|ATP2A3_ENST00000397041.3_Splice_Site_p.G211_splice|ATP2A3_ENST00000397035.3_Splice_Site_p.G211_splice NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 211 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) ATATTGGTGCCCTGGCCAGGG 0.637000 6 36 0 0 0.003080 0 0 HELLS 3070 broad.mit.edu 37 10 96336456 96336456 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr10:96336456G>A ENST00000348459.5 + 10 1031 c.926G>A c.(925-927)cGt>cAt p.R309H HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.R309H|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394044.1_Missense_Mutation_p.R309H|HELLS_ENST00000371332.4_Missense_Mutation_p.R309H NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 309 Helicase ATP-binding. cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) CAGGAGGAACGTCAAAAATTG 0.333000 5 38 0 0 0.001168 0 0 IDH1 3417 broad.mit.edu 37 2 209108281 209108281 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr2:209108281C>T ENST00000415913.1 - 6 949 c.568G>A c.(568-570)Gaa>Aaa p.E190K IDH1_ENST00000446179.1_Missense_Mutation_p.E190K|IDH1_ENST00000345146.2_Missense_Mutation_p.E190K O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 190 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) GCAAAATCTTCAATTGACTTA 0.408000 Mis gliobastoma 28 40 0 0 0.007291 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 24 8 0 0 0.007291 0 0 TRAF3 7187 broad.mit.edu 37 14 103357700 103357700 + Silent SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr14:103357700C>T ENST00000560371.1 + 8 982 c.765C>T c.(763-765)tcC>tcT p.S255S TRAF3_ENST00000347662.4_Silent_p.S230S|TRAF3_ENST00000392745.2_Silent_p.S255S|TRAF3_ENST00000539721.1_Intron|TRAF3_ENST00000351691.5_Silent_p.S230S NM_003300.3|NM_145725.2 NP_003291.2|NP_663777.1 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 255 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) AGGCCAGCTCCGCCGTGCAGC 0.557000 7 35 0 0 0.001984 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 2 2 0 0 0.004672 0 0 CCAR1 55749 broad.mit.edu 37 10 70525798 70525798 + Missense_Mutation SNP G G C TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr10:70525798G>C ENST00000265872.6 + 17 2379 c.2260G>C c.(2260-2262)Gac>Cac p.D754H CCAR1_ENST00000543719.1_Missense_Mutation_p.D739H|CCAR1_ENST00000535016.1_Missense_Mutation_p.D739H NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 754 Glu-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TGTCCTATTGGACTACAGATT 0.338000 19 53 0 0 0.010504 0 0 HHIPL2 79802 broad.mit.edu 37 1 222721186 222721186 + Silent SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr1:222721186G>A ENST00000343410.6 - 1 259 c.201C>T c.(199-201)ttC>ttT p.F67F NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 67 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CACAGCAGCCGAAGGACTCAT 0.567000 23 40 0 0 0.021523 0 0 NLRP2 55655 broad.mit.edu 37 19 55489152 55489152 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr19:55489152G>A ENST00000543010.1 + 4 501 c.358G>A c.(358-360)Gtg>Atg p.V120M NLRP2_ENST00000339757.7_Missense_Mutation_p.V120M|NLRP2_ENST00000263437.6_Missense_Mutation_p.V120M|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000427260.2_Missense_Mutation_p.V97M|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000537859.1_Missense_Mutation_p.V120M|NLRP2_ENST00000448584.2_Missense_Mutation_p.V120M NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 120 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding p.V120M(1) large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) ACCTCTAGACGTGGACGAAAT 0.542000 31 62 0 0 0.017118 0 0 PAPLN 89932 broad.mit.edu 37 14 73721248 73721248 + Missense_Mutation SNP C C T rs143213374 TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr14:73721248C>T ENST00000427855.1 + 13 1432 c.1330C>T c.(1330-1332)Cgg>Tgg p.R444W PAPLN_ENST00000555445.1_Missense_Mutation_p.R444W|PAPLN_ENST00000554301.1_Missense_Mutation_p.R444W|PAPLN_ENST00000381166.3_Missense_Mutation_p.R444W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R417W O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 444 TSP type-1 4. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CGTTGGCGTCCGGAAGCGGAG 0.622000 58 211 0 0 0.014410 0 0 CTBP2 1488 broad.mit.edu 37 10 126678151 126678151 + Missense_Mutation SNP T T C TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr10:126678151T>C ENST00000309035.6 - 9 3024 c.2894A>G c.(2893-2895)cAa>cGa p.Q965R CTBP2_ENST00000337195.5_Missense_Mutation_p.Q425R|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q425R|CTBP2_ENST00000531469.1_Missense_Mutation_p.Q425R|CTBP2_ENST00000494626.2_Missense_Mutation_p.Q425R|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q493R NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 425 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) AGAGGGCGCTTGGGAAGGATG 0.567000 4 116 0 0 0.014758 0 0 PSRC1 84722 broad.mit.edu 37 1 109824422 109824422 + Missense_Mutation SNP C C T rs114022452 byFrequency TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr1:109824422C>T ENST00000438534.2 - 4 476 c.338G>A c.(337-339)cGg>cAg p.R113Q PSRC1_ENST00000409267.1_Missense_Mutation_p.R113Q|PSRC1_ENST00000409138.2_Missense_Mutation_p.R113Q|PSRC1_ENST00000369903.2_Missense_Mutation_p.R113Q|PSRC1_ENST00000369904.3_Missense_Mutation_p.R113Q|PSRC1_ENST00000369907.3_Missense_Mutation_p.R113Q|PSRC1_ENST00000369909.2_Missense_Mutation_p.R113Q NM_001005290.3 NP_001005290.1 Q6PGN9 PSRC1_HUMAN proline/serine-rich coiled-coil 1 113 4 X 4 AA repeats of P-X-X-P. cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization cytosol|midbody|spindle pole microtubule binding endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 7 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213) GGTCTCCCGCCGAGGACTGGG 0.672000 32 53 0 0 0.010818 0 0 ERF 2077 broad.mit.edu 37 19 42754040 42754040 + Silent SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr19:42754040G>A ENST00000222329.4 - 3 469 c.312C>T c.(310-312)taC>taT p.Y104Y AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Silent_p.Y29Y NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 104 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) AATTGAACTTGTAGGTGAACC 0.488000 30 134 0 0 0.008361 0 0 PTPRF 5792 broad.mit.edu 37 1 44069439 44069439 + Silent SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr1:44069439G>A ENST00000359947.4 + 16 2956 c.2616G>A c.(2614-2616)aaG>aaA p.K872K PTPRF_ENST00000422171.2_Silent_p.K220K|PTPRF_ENST00000438120.1_Silent_p.K863K|PTPRF_ENST00000372413.3_Silent_p.K863K|PTPRF_ENST00000372414.3_Silent_p.K872K|PTPRF_ENST00000496447.1_3'UTR NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 872 Fibronectin type-III 6. 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) ATTTCGGCAAGGATGACCAGC 0.632000 18 89 0 0 0.010504 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 95 0 0 0.009096 0 0 PANX2 56666 broad.mit.edu 37 22 50615649 50615649 + Missense_Mutation SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr22:50615649G>A ENST00000395842.2 + 2 508 c.508G>A c.(508-510)Gag>Aag p.E170K PANX2_ENST00000159647.5_Missense_Mutation_p.E170K NM_052839.3 NP_443071.2 Q96RD6 PANX2_HUMAN pannexin 2 170 protein hexamerization|synaptic transmission gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1) 7 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) CCGGGCGGCCGAGGGCCGCGC 0.662000 4 10 0 0 0.009096 0 0 TAL1 6886 broad.mit.edu 37 1 47691450 47691450 + Silent SNP G G A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr1:47691450G>A ENST00000371883.3 - 2 687 c.111C>T c.(109-111)gtC>gtT p.V37V TAL1_ENST00000371884.2_Silent_p.V37V|TAL1_ENST00000294339.3_Silent_p.V37V P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 37 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 TCTCCTTGGCGACGCCGTTCA 0.796000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 11 27 0 0 0.013537 0 0 MAST2 23139 broad.mit.edu 37 1 46494559 46494559 + Frame_Shift_Del DEL T T - TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr1:46494559delT ENST00000361297.2 + 18 2455 c.2172delT c.(2170-2172)ccfs p.P724fs MAST2_ENST00000372008.1_Frame_Shift_Del_p.P609fs|MAST2_ENST00000372009.2_Frame_Shift_Del_p.P654fs NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 724 Protein kinase. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GCTGCGTCCCTTTTTTTGGAG 0.552 9 387 --- --- --- --- PARP14 54625 broad.mit.edu 37 3 122418601 122418602 + Frame_Shift_Ins INS - - A TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr3:122418601_122418602insA ENST00000474629.2 + 6 1466_1467 c.1200_1201insA c.(1198-1203)gtacccfs p.P401fs NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) AATATAAAGTCAACCCAATTAA 0.406 55 123 --- --- --- --- LOC440173 440173 broad.mit.edu 37 9 89627054 89627054 + RNA DEL G G - TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr9:89627054delG ENST00000602579.1 - 0 256 NR_027471.1 GGCTCCAGCCGGAAGACCTAC 0.512 42 111 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139412704 139412704 + Frame_Shift_Del DEL G G - TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr9:139412704delG ENST00000277541.6 - 7 1215 c.1140delC c.(1138-1140)ccfs p.P380fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 380 EGF-like 10. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCTCGTTACAGGGGTTGCTGA 0.677 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 10 23 --- --- --- --- ADRBK1 156 broad.mit.edu 37 11 67044804 67044804 + Frame_Shift_Del DEL T T - TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr11:67044804delT ENST00000308595.5 + 2 465 c.175delT c.(175-177)ttfs p.F59fs ADRBK1_ENST00000526285.1_Frame_Shift_Del_p.F59fs NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 59 N-terminal.|RGS. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) TGAGAAGATCTTTTCCCAGAA 0.607 57 149 --- --- --- --- LCAT 3931 broad.mit.edu 37 16 67974104 67974112 + In_Frame_Del DEL GCCCACGCC GCCCACGCC - rs112299487 TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr16:67974104_67974112delGCCCACGCC ENST00000264005.5 - 6 1047_1055 c.1018_1026delGGCGTGGGC c.(1018-1026)del p.GVG340del NM_000229.1 NP_000220.1 P04180 LCAT_HUMAN lecithin-cholesterol acyltransferase 340 cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12) GCGTGGGCAGGCCCACGCCGTAAAGACAG 0.608 33 153 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69727514 69727515 + Frame_Shift_Del DEL CT CT - rs148486602 TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr16:69727514_69727515delCT ENST00000349945.1 + 14 5056_5057 c.3504_3505delCT c.(3502-3507)aactfs p.NS1168fs NFAT5_ENST00000567239.1_Frame_Shift_Del_p.NS1261fs|NFAT5_ENST00000354436.2_Frame_Shift_Del_p.NS1244fs|NFAT5_ENST00000432919.1_Frame_Shift_Del_p.NS1262fs|NFAT5_ENST00000393742.2_Frame_Shift_Del_p.NS1168fs|NFAT5_ENST00000566899.1_Frame_Shift_Del_p.NS1168fs NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1244 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TGCAGAGTAACTCTCCATCCCA 0.505 23 69 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578384 7578401 + In_Frame_Del DEL GCAGCGCTCATGGTGGGG GCAGCGCTCATGGTGGGG - rs68130327 by1000genomes TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG ENST00000420246.2 - 5 661_678 c.529_546delCCCCACCATGAGCGCTGC c.(529-546)del p.PHHERC177del TP53_ENST00000269305.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000359597.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000455263.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000413465.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000445888.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 177 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(108)|p.H179Y(98)|p.H179L(43)|p.H179Q(23)|p.R181H(21)|p.R181C(19)|p.P177R(18)|p.P177L(17)|p.H178fs*69(16)|p.H179N(16)|p.E180*(14)|p.R181P(14)|p.H179D(13)|p.P177P(10)|p.P177_C182delPHHERC(8)|p.C182S(8)|p.P177S(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.E180D(6)|p.H47Y(6)|p.H178P(6)|p.H86Y(6)|p.E180K(5)|p.H178fs*3(5)|p.H178Q(5)|p.C182*(5)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.P177H(3)|p.H178N(3)|p.R175_E180delRCPHHE(3)|p.R181L(3)|p.R174fs*24(3)|p.H179fs*68(2)|p.H179H(2)|p.H47Q(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.P177fs*3(2)|p.C182R(2)|p.C182Y(2)|p.C182C(2)|p.R49C(2)|p.R88C(2)|p.H86R(2)|p.H86Q(2)|p.H85fs*69(2)|p.R181R(2)|p.H46fs*>45(2)|p.V173fs*59(2)|p.V173fs*69(1)|p.E180G(1)|p.E180fs*67(1)|p.E180Q(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.H178fs*6(1)|p.H47D(1)|p.R174fs*3(1)|p.H47N(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H178L(1)|p.E171fs*1(1)|p.H179del(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.E180>DGRCPHQ(1)|p.H178del(1)|p.E48D(1)|p.E180_S183del(1)|p.P177T(1)|p.R49P(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.C176_P177delCP(1)|p.P177fs*69(1)|p.R42fs*24(1)|p.R88P(1)|p.C182fs*4(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.C182fs*65(1)|p.E87D(1)|p.H85_S90delHHERCS(1)|p.H86D(1)|p.H86N(1)|p.C176fs*65(1)|p.R181G(1)|p.C176fs*68(1)|p.R174_H178>S(1)|p.H46D(1)|p.R181>XXXXXXX(1)|p.H178_H179>QY(1)|p.H85D(1)|p.?(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.P84R(1)|p.P177_H179delPHH(1)|p.E180fs*6(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTC 0.638 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 65 --- --- --- --- CCDC144A 9720 broad.mit.edu 37 17 16631037 16631038 + Frame_Shift_Del DEL AG AG - TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65b842c-257e-4ac7-a155-23d3ac12d41c f976fe92-00c7-45c7-8acd-32cf2ae2e9e4 g.chr17:16631037_16631038delAG ENST00000443444.2 + 9 2228_2229 c.2088_2089delAG c.(2086-2091)aaagfs p.KE696fs CCDC144A_ENST00000456009.1_Frame_Shift_Del_p.KE416fs|CCDC144A_ENST00000399273.1_Frame_Shift_Del_p.KE696fs|CCDC144A_ENST00000360524.8_Frame_Shift_Del_p.KE696fs|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Del_p.KE696fs A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 696 AATGGGAGAAAGAGCTGTACGA 0.302 7 48 --- --- --- ---