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 SLC28A1 9154 broad.mit.edu 37 15 85461836 85461836 + Splice_Site SNP G G T TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr15:85461836G>T ENST00000394573.1 + 10 1078 c.e10+1 SLC28A1_ENST00000537624.1_Splice_Site|SLC28A1_ENST00000537216.1_Splice_Site|SLC28A1_ENST00000538177.1_Splice_Site|SLC28A1_ENST00000537703.1_Splice_Site|SLC28A1_ENST00000286749.3_Splice_Site NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) GATCCTGAAGGTAAGTTCCCA 0.562000 26 34 2.61193e-14 3.08683e-14 1 1 0 UHRF1BP1 54887 broad.mit.edu 37 6 34835110 34835110 + Missense_Mutation SNP C C T TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr6:34835110C>T ENST00000192788.5 + 16 3692 c.3521C>T c.(3520-3522)gCc>gTc p.A1174V UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A1174V NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 1174 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TCACCAGCAGCCAACAGTTCA 0.507000 8 65 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678493 100678493 + Missense_Mutation SNP A A T TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr7:100678493A>T ENST00000306151.4 + 3 3860 c.3796A>T c.(3796-3798)Acc>Tcc p.T1266S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1266 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CGCTGAAGGTACCAGCTTGCC 0.507000 112 311 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C T rs121912656 TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr17:7577547C>T ENST00000420246.2 - 7 866 c.734G>A c.(733-735)gGc>gAc p.G245D TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CCGGTTCATGCCGCCCATGCA 0.582000 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) 3 29 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56422072 56422072 + Silent SNP G G A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr19:56422072G>A ENST00000588751.1 - 6 2163 c.2139C>T c.(2137-2139)caC>caT p.H713H NLRP13_ENST00000342929.3_Silent_p.H713H Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 713 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TGTTCCATGCGTGCATCCTGG 0.463000 29 78 0 0 1 0 0 C9orf85 138241 broad.mit.edu 37 9 74587611 74587611 + Missense_Mutation SNP G G T TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr9:74587611G>T ENST00000334731.2 + 4 517 c.327G>T c.(325-327)ttG>ttT p.L109F C9orf85_ENST00000486911.2_Intron|C9orf85_ENST00000377031.3_Intron NM_182505.3 NP_872311.2 Q96MD7 CI085_HUMAN chromosome 9 open reading frame 85 0 kidney(2)|large_intestine(1)|lung(4) 7 TCTTTAGGTTGAATAAAGAAA 0.284000 3 52 1 1 1 1 0 AKT1 207 broad.mit.edu 37 14 105246551 105246551 + Missense_Mutation SNP C C T rs34409589 TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr14:105246551C>T ENST00000554581.1 - 2 1529 c.49G>A c.(49-51)Gag>Aag p.E17K AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 17 PH. E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane). activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity p.E17K(102) NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TTGATGTACTCCCCTACAGAC 0.612000 E17K(KU1919_URINARY_TRACT) 1 Mis """breast, colorectal, ovarian, NSCLC""" 20 10 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43038000 43038000 + Missense_Mutation SNP C C T TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr15:43038000C>T ENST00000267890.6 - 15 3836 c.3728G>A c.(3727-3729)aGc>aAc p.S1243N NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1243 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CTCCTATCTGCTGAGTTTACT 0.493000 29 56 0 0 1 0 0 PXDC1 221749 broad.mit.edu 37 6 3727804 3727804 + Missense_Mutation SNP C C T TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr6:3727804C>T ENST00000380283.4 - 4 1053 c.559G>A c.(559-561)Gtg>Atg p.V187M PXDC1_ENST00000477592.2_5'UTR NM_183373.3 NP_899229.2 Q5TGL8 CF145_HUMAN PX domain containing 1 187 cell communication phosphatidylinositol binding GTTGGGTCCACGCCCAGCTGC 0.428000 10 34 0 0 1 0 0 TYMS 7298 broad.mit.edu 37 18 670815 670815 + Missense_Mutation SNP T T A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr18:670815T>A ENST00000323274.10 + 5 819 c.680T>A c.(679-681)aTc>aAc p.I227N TYMS_ENST00000323250.5_Missense_Mutation_p.I144N|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Missense_Mutation_p.I193N NM_001071.2 NP_001062.1 P04818 TYSY_HUMAN thymidylate synthetase 227 DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus cytosol thymidylate synthase activity endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2) 8 Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432) CCTTTCAACATCGCCAGCTAC 0.592000 38 31 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95423537 95423537 + Missense_Mutation SNP G G A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr8:95423537G>A ENST00000336148.5 - 4 435 c.311C>T c.(310-312)tCg>tTg p.S104L NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) TTTAGGAGCCGAATGAACTAC 0.308000 Direct reversal of damage;Homologous recombination 3 36 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 3 51 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233655742 233655742 + Nonsense_Mutation SNP G G T TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr2:233655742G>T ENST00000373566.3 + 12 1218 c.1021G>T c.(1021-1023)Gaa>Taa p.E341* GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.E313*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.E150*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.E319*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.E319* Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 319 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GCCTATTCCAGAAGAGCAGGA 0.448000 11 20 6.40141e-05 6.65747e-05 1 1 0 STRC 161497 broad.mit.edu 37 15 43901532 43901532 + Splice_Site SNP C C A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr15:43901532C>A ENST00000450892.2 - 16 3576 c.3498_splice c.e16-1 p.A1167_splice STRC_ENST00000541030.1_Splice_Site_p.A394_splice NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1167 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) AGAAACTGTGCCTACAAGAGA 0.522000 4 68 1 1 1 1 0 ZNF286A 57335 broad.mit.edu 37 17 15619875 15619875 + Silent SNP T T G TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr17:15619875T>G ENST00000464847.2 + 5 1390 c.837T>G c.(835-837)tcT>tcG p.S279S ZNF286A_ENST00000413242.2_Silent_p.S279S|ZNF286A_ENST00000593105.1_Silent_p.S269S|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Silent_p.S279S|ZNF286A_ENST00000421016.1_Silent_p.S279S|ZNF286A_ENST00000395894.2_3'UTR Q9HBT8 Z286A_HUMAN zinc finger protein 286A 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) GTGGGAAATCTTTTAGCCACA 0.408000 21 36 0 0 1 0 0 SLC23A2 9962 broad.mit.edu 37 20 4880337 4880337 + Missense_Mutation SNP C C T TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr20:4880337C>T ENST00000379333.1 - 6 738 c.346G>A c.(346-348)Ggc>Agc p.G116S SLC23A2_ENST00000338244.1_Missense_Mutation_p.G116S|SLC23A2_ENST00000424750.2_Missense_Mutation_p.G116S|SLC23A2_ENST00000468355.1_5'UTR NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 116 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GCGATCGTGCCGCTGAAGCAT 0.522000 35 39 0 0 1 0 0 MAN2B1 4125 broad.mit.edu 37 19 12769127 12769127 + Missense_Mutation SNP C C T TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr19:12769127C>T ENST00000456935.2 - 9 1181 c.1141G>A c.(1141-1143)Gcg>Acg p.A381T MAN2B1_ENST00000495617.1_Intron|MAN2B1_ENST00000221363.4_Missense_Mutation_p.A380T NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 381 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGGCCATCCGCGTAAGGGAAG 0.617000 21 45 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14589075 14589075 + Missense_Mutation SNP G G A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr12:14589075G>A ENST00000544627.1 + 4 2025 c.1705G>A c.(1705-1707)Gac>Aac p.D569N ATF7IP_ENST00000536444.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D561N|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D561N|ATF7IP_ENST00000541654.1_3'UTR Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 561 Glu-rich.|Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TAAATCAGAAGACATGGACAA 0.353000 71 31 0 0 1 0 0 ZNF609 23060 broad.mit.edu 37 15 64966530 64966530 + Missense_Mutation SNP G G A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr15:64966530G>A ENST00000326648.3 + 4 1605 c.1477G>A c.(1477-1479)Gtc>Atc p.V493I ZNF609_ENST00000559364.1_3'UTR NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 493 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCCCTCCCCCGTCCTAATTGA 0.522000 17 20 0 0 1 0 0 FANCB 2187 broad.mit.edu 37 X 14863074 14863074 + Missense_Mutation SNP T T C TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chrX:14863074T>C ENST00000398334.1 - 8 2098 c.1831A>G c.(1831-1833)Aaa>Gaa p.K611E FANCB_ENST00000324138.3_Missense_Mutation_p.K611E NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 611 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) TAACGATCTTTAGGACAGTTA 0.353000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 74 12 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53217008 53217008 + Nonsense_Mutation SNP G G A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr12:53217008G>A ENST00000330553.5 - 7 1193 c.1159C>T c.(1159-1161)Cag>Tag p.Q387* NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 387 Coil 2.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATGGCCGTCTGCAGCTGCTGA 0.597000 6 12 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30724642 30724642 + Silent SNP G G A rs138153762 TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr16:30724642G>A ENST00000262518.4 + 15 2629 c.2244G>A c.(2242-2244)gcG>gcA p.A748A SRCAP_ENST00000344771.4_Silent_p.A748A|SRCAP_ENST00000395059.2_Silent_p.A748A NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 748 Helicase ATP-binding. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.A748A(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TGGATGAGGCGCAGAACATCA 0.522000 3 73 0 0 1 0 0 SLC27A4 10999 broad.mit.edu 37 9 131112789 131112789 + Missense_Mutation SNP A A G TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr9:131112789A>G ENST00000300456.3 + 6 929 c.812A>G c.(811-813)tAc>tGc p.Y271C SLC27A4_ENST00000372870.1_Intron NM_005094.3 NP_005085.2 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid transporter), member 4 271 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 GCCCTGGTGTACTATGGATTC 0.617000 10 16 0 0 1 0 0 RGS11 8786 broad.mit.edu 37 16 321439 321439 + Silent SNP C C A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr16:321439C>A ENST00000397770.3 - 11 725 c.708G>T c.(706-708)gcG>gcT p.A236A ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.A225A|RGS11_ENST00000316163.5_Silent_p.A215A O94810 RGS11_HUMAN regulator of G-protein signaling 11 236 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1) 8 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) TCCTGCCCAGCGCTTTCCTGA 0.647000 12 16 4.3838e-07 4.9556e-07 1 1 0 OR5AN1 390195 broad.mit.edu 37 11 59132469 59132469 + Missense_Mutation SNP T T G TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr11:59132469T>G ENST00000313940.2 + 1 585 c.538T>G c.(538-540)Tgt>Ggt p.C180G NM_001004729.1 NP_001004729.1 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, member 1 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 21 ACATTTCTTCTGTGACATGCC 0.438000 4 180 0 0 1 0 0 SMIM21 284274 broad.mit.edu 37 18 73122856 73122856 + Missense_Mutation SNP C C T rs148196575 TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr18:73122856C>T ENST00000579022.1 - 3 408 c.269G>A c.(268-270)cGt>cAt p.R90H RP11-321M21.3_ENST00000578340.1_Intron|RP11-321M21.3_ENST00000579386.1_Intron|SMIM21_ENST00000382638.3_Silent_p.T46T NM_001037331.2 NP_001032408.1 small integral membrane protein 21 TGACTTCAAACGTAGAAAGCT 0.343000 3 21 0 0 1 0 0 SPINK4 27290 broad.mit.edu 37 9 33221060 33221060 + Silent SNP G G C TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr9:33221060G>C ENST00000379725.1 + 2 206 c.84G>C c.(82-84)tcG>tcC p.S28S SPINK4_ENST00000379723.1_Silent_p.S28S O60575 ISK4_HUMAN serine peptidase inhibitor, Kazal type 4 0 extracellular region serine-type endopeptidase inhibitor activity lung(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) GGGATGCTTCGCACACAGACC 0.517000 4 18 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52211329 52211329 + Missense_Mutation SNP A A T TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr5:52211329A>T ENST00000282588.6 + 15 2351 c.1893A>T c.(1891-1893)aaA>aaT p.K631N NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 631 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) AGACACTGAAATTTTTTGGCC 0.423000 9 91 0 0 1 0 0 ITGAL 0 broad.mit.edu 37 16 30500700 30500700 + Silent SNP C C A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr16:30500700C>A ENST00000356798.6 + 11 1386 c.1206C>A c.(1204-1206)ggC>ggA p.G402G ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.G319G NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 402 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TGAGAGCAGGCTATTTGGGTG 0.488000 7 31 1.06961e-07 1.236e-07 1 1 0 STAU1 6780 broad.mit.edu 37 20 47734393 47734393 + Missense_Mutation SNP G G C TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr20:47734393G>C ENST00000371828.3 - 11 1692 c.1205C>G c.(1204-1206)tCt>tGt p.S402C STAU1_ENST00000371802.1_Missense_Mutation_p.S402C|STAU1_ENST00000371856.2_Missense_Mutation_p.S477C|STAU1_ENST00000371792.1_Missense_Mutation_p.S394C|STAU1_ENST00000347458.5_Missense_Mutation_p.S396C|STAU1_ENST00000340954.7_Missense_Mutation_p.S396C|STAU1_ENST00000360426.4_Missense_Mutation_p.S396C NM_001037328.1|NM_004602.2 NP_001032405.1|NP_004593.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 477 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) GTGGCCTGAAGAGATGTTATT 0.547000 3 67 0 0 1 0 0 TRBV5-7 0 broad.mit.edu 37 7 142111577 142111577 + RNA SNP C C T TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr7:142111577C>T ENST00000390378.1 - 0 158 CCTGTTGGTACGAGGACACAC 0.517000 8 63 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228481946 228481946 + Missense_Mutation SNP C C T TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr1:228481946C>T ENST00000570156.2 + 47 12586 c.12512C>T c.(12511-12513)cCg>cTg p.P4171L OBSCN_ENST00000359599.6_Missense_Mutation_p.P2589L|OBSCN_ENST00000366707.4_Missense_Mutation_p.P861L|OBSCN_ENST00000422127.1_Missense_Mutation_p.P3742L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P861L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P3742L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3214 Ig-like 43. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AAGGCGGCACCGGTGGAGTGG 0.622000 71 92 0 0 1 0 0 POMC 5443 broad.mit.edu 37 2 25383999 25383999 + Missense_Mutation SNP G G A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr2:25383999G>A ENST00000405623.1 - 3 1210 c.755C>T c.(754-756)aCg>aTg p.T252M POMC_ENST00000380794.1_Missense_Mutation_p.T252M|POMC_ENST00000264708.3_Missense_Mutation_p.T252M|POMC_ENST00000395826.2_Missense_Mutation_p.T252M P01189 COLI_HUMAN proopiomelanocortin 252 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding p.T252M(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) TTTGAACAGCGTCACCAGGGG 0.642000 10 46 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 3 52 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11189830 11189830 + Silent SNP G G C TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr1:11189830G>C ENST00000361445.4 - 40 5755 c.5679C>G c.(5677-5679)tcC>tcG p.S1893S MTOR_ENST00000376838.1_Silent_p.S98S NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1893 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CTCGTGACAAGGAGATGGAAC 0.522000 7 15 0 0 1 0 0 GLB1 2720 broad.mit.edu 37 3 33038803 33038803 + Missense_Mutation SNP G G A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr3:33038803G>A ENST00000307363.5 - 16 1912 c.1768C>T c.(1768-1770)Cgc>Tgc p.R590C GLB1_ENST00000307377.8_Missense_Mutation_p.R459C|GLB1_ENST00000445488.2_Missense_Mutation_p.R638C|GLB1_ENST00000399402.3_Missense_Mutation_p.R560C NM_000404.2 NP_000395.2 P16278 BGAL_HUMAN galactosidase, beta 1 590 R -> C (in GM1G1).|R -> H (in GM1G2). carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) GGCCAATAGCGGCCAAGGTTA 0.592000 14 21 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33689492 33689492 + Missense_Mutation SNP G G A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr11:33689492G>A ENST00000321505.4 + 20 5522 c.5342G>A c.(5341-5343)cGt>cAt p.R1781H KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1787H|RP4-541C22.5_ENST00000534431.1_RNA KIAA1549-like p.R1781H(1) AGGCTTCCTCGTCAGTACAGC 0.682000 18 21 0 0 1 0 0 SIRT1 23411 broad.mit.edu 37 10 69666644 69666644 + Missense_Mutation SNP T T A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr10:69666644T>A ENST00000212015.6 + 5 1093 c.1040T>A c.(1039-1041)aTa>aAa p.I347K SIRT1_ENST00000406900.1_Missense_Mutation_p.I44K|SIRT1_ENST00000432464.1_Missense_Mutation_p.I52K|SIRT1_ENST00000403579.1_Missense_Mutation_p.I44K NM_012238.4 NP_036370.2 Q96EB6 SIRT1_HUMAN sirtuin 1 347 Deacetylase sirtuin-type. apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 14 ACCCAGAACATAGACACGCTG 0.388000 13 21 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14589162 14589162 + Missense_Mutation SNP G G C TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr12:14589162G>C ENST00000544627.1 + 4 2112 c.1792G>C c.(1792-1794)Gac>Cac p.D598H ATF7IP_ENST00000536444.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D590H|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D590H|ATF7IP_ENST00000541654.1_3'UTR Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 590 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 AGCCAAAGGAGACATTAACCA 0.323000 101 59 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55371422 55371422 + Missense_Mutation SNP A A T TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr11:55371422A>T ENST00000302231.4 - 1 452 c.428T>A c.(427-429)aTt>aAt p.I143N NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 GGCAAGAACAATCAGGATGAT 0.453000 4 52 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 3 45 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235944227 235944227 + Nonsense_Mutation SNP G G A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr1:235944227G>A ENST00000389794.3 - 16 5326 c.5152C>T c.(5152-5154)Cga>Tga p.R1718* LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*|LYST_ENST00000536965.1_3'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 1718 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGTTCACATCGCAAAATTTCT 0.294000 3 56 0 0 1 0 0 DGKD 8527 broad.mit.edu 37 2 234368918 234368918 + Missense_Mutation SNP C C T TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr2:234368918C>T ENST00000264057.2 + 24 2920 c.2908C>T c.(2908-2910)Ccg>Tcg p.P970S DGKD_ENST00000409813.3_Missense_Mutation_p.P926S NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 970 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) TTCCCTGCACCCGGAGATGCT 0.617000 11 18 0 0 1 0 0 CD83 9308 broad.mit.edu 37 6 14131839 14131839 + Missense_Mutation SNP C C A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr6:14131839C>A ENST00000379153.3 + 3 413 c.242C>A c.(241-243)tCt>tAt p.S81Y NM_001040280.1|NM_001251901.1|NM_004233.3 NP_001035370.1|NP_001238830.1|NP_004224.1 Q01151 CD83_HUMAN CD83 molecule 81 Ig-like V-type. defense response|humoral immune response|signal transduction integral to plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 12 Breast(50;0.00245)|Ovarian(93;0.137) all_hematologic(90;0.117) CAAAATGGTTCTTTCGACGCC 0.547000 16 31 3.45872e-05 3.74694e-05 1 1 0 ANK2 287 broad.mit.edu 37 4 114280141 114280141 + Missense_Mutation SNP G G A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr4:114280141G>A ENST00000357077.4 + 38 10420 c.10367G>A c.(10366-10368)gGc>gAc p.G3456D ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G3423D NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3423 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGCAGGGGGGGCACGAGCCCC 0.438000 9 26 0 0 1 0 0 SIK2 23235 broad.mit.edu 37 11 111558815 111558815 + Missense_Mutation SNP G G A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr11:111558815G>A ENST00000304987.3 + 4 580 c.407G>A c.(406-408)cGg>cAg p.R136Q NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 136 Protein kinase. intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 TGTCATGGTCGGAAGATTGTG 0.423000 27 42 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56421986 56421986 + Missense_Mutation SNP G G A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr19:56421986G>A ENST00000588751.1 - 6 2249 c.2225C>T c.(2224-2226)tCt>tTt p.S742F NLRP13_ENST00000342929.3_Missense_Mutation_p.S742F Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 742 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ACCCTTCACAGAGGAAGCATG 0.468000 8 111 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17720687 17720687 + RNA DEL G G - rs67226027 TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr1:17720687delG ENST00000434762.2 + 0 1233 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGGCCTCTGAGGGGGGAGGGG 0.587 6 10 --- --- --- --- PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 2 4 --- --- --- --- RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 2 4 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 2 4 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18843723 18843724 + RNA INS - - A TCGA-V1-A8WW-01A-11D-A377-08 TCGA-V1-A8WW-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 637ce92c-479a-4333-a272-a3bc97468267 362152fc-c864-446f-b73d-3bd9926755b8 g.chr22:18843723_18843724insA ENST00000412938.1 + 0 2337 AGGGGCACCCCACGGCCTGGAG 0.619 2 4 --- --- --- ---