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 HHATL 57467 broad.mit.edu 37 3 42734573 42734573 + Silent SNP G G C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr3:42734573G>C ENST00000441594.1 - 11 1647 c.1386C>G c.(1384-1386)ctC>ctG p.L462L HHATL_ENST00000310417.5_Silent_p.L462L NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 462 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) CCTCACCTGTGAGTAGCAGGC 0.562000 86 849 0 0 0.870114 0 0 SIX1 6495 broad.mit.edu 37 14 61113191 61113191 + Missense_Mutation SNP G G C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr14:61113191G>C ENST00000247182.6 - 2 937 c.665C>G c.(664-666)cCt>cGt p.P222R SIX1_ENST00000554986.1_Missense_Mutation_p.P49R NM_005982.3 NP_005973.1 Q15475 SIX1_HUMAN SIX homeobox 1 222 branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0201) ACTTTGGGGAGGTGAGAATTC 0.547000 16 142 0 0 0.539581 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473194 22473194 + RNA SNP G G C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr15:22473194G>C ENST00000557788.2 - 0 76 TCCTGGGCCCGACTCCTGCAG 0.617000 4 106 0 0 0.248553 0 0 DAND5 199699 broad.mit.edu 37 19 13080792 13080792 + Silent SNP C C T TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr19:13080792C>T ENST00000317060.2 + 1 497 c.318C>T c.(316-318)ttC>ttT p.F106F DAND5_ENST00000585548.1_Silent_p.F136F NM_152654.2 NP_689867.1 Q8N907 DAND5_HUMAN DAN domain family member 5, BMP antagonist 106 CTCK. extracellular region kidney(2)|lung(3)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) CTGTGCCCTTCGTTCAGGTGA 0.602000 8 56 0 0 0.278610 0 0 ZNF518A 9849 broad.mit.edu 37 10 97916895 97916895 + RNA SNP C C G TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr10:97916895C>G ENST00000534948.1 + 0 1673 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) ATGGTGCCACCAGGAGAGAAC 0.353000 8 67 0 0 0.278610 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 3 85 0 0 0.150653 0 0 ANKS1A 23294 broad.mit.edu 37 6 35048843 35048843 + Missense_Mutation SNP C C G TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr6:35048843C>G ENST00000360359.3 + 17 2755 c.2617C>G c.(2617-2619)Ctg>Gtg p.L873V ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 873 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GTCGGCAGATCTGCTGCTGCC 0.612000 4 149 0 0 0.248553 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 27 295 0 0 0.693898 0 0 DAND5 199699 broad.mit.edu 37 19 13080562 13080562 + Nonsense_Mutation SNP C C T TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr19:13080562C>T ENST00000317060.2 + 1 267 c.88C>T c.(88-90)Cga>Tga p.R30* DAND5_ENST00000585548.1_Nonsense_Mutation_p.R60* NM_152654.2 NP_689867.1 Q8N907 DAND5_HUMAN DAN domain family member 5, BMP antagonist 30 extracellular region kidney(2)|lung(3)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) CCAGTCTCCTCGACCTCAGTC 0.652000 8 231 0 0 0.387290 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5204861 5204861 + Silent SNP G G A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr10:5204861G>A ENST00000334314.3 - 2 292 c.216C>T c.(214-216)atC>atT p.I72I aldo-keto reductase family 1, member C-like 1 cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 TACCATCAGCGATCTTCTCCC 0.443000 9 369 0 0 0.335167 0 0 TP53 7157 broad.mit.edu 37 17 7578175 7578175 + Splice_Site SNP A A T TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr17:7578175A>T ENST00000420246.2 - 6 805 c.e6+1 TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(27)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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) TGCAAACCAGACCTCAGGCGG 0.532000 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) 38 54 0 0 0.796494 0 0 ZHX3 23051 broad.mit.edu 37 20 39832386 39832386 + Silent SNP G G A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr20:39832386G>A ENST00000309060.3 - 4 1586 c.1171C>T c.(1171-1173)Cta>Tta p.L391L ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Silent_p.L391L|ZHX3_ENST00000544979.2_Silent_p.L391L|ZHX3_ENST00000540170.1_Silent_p.L391L|ZHX3_ENST00000560361.1_Silent_p.L391L|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Silent_p.L391L Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 391 Required for homodimerization and interaction with NFYA.|Required for repressor activity. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) GGGGTATTTAGAACCGTAATT 0.567000 13 121 0 0 0.411799 0 0 NRAP 4892 broad.mit.edu 37 10 115364589 115364589 + Missense_Mutation SNP G G A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr10:115364589G>A ENST00000369358.4 - 35 4274 c.4030C>T c.(4030-4032)Cgc>Tgc p.R1344C NRAP_ENST00000359988.3_Missense_Mutation_p.R1336C|NRAP_ENST00000369360.3_Missense_Mutation_p.R1309C|NRAP_ENST00000360478.3_Missense_Mutation_p.R1301C Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1336 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TGGCCCATGCGCCGGCAGTGC 0.592000 6 107 0 0 0.361761 0 0 DICER1 23405 broad.mit.edu 37 14 95592941 95592941 + Silent SNP T T C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr14:95592941T>C ENST00000526495.1 - 9 1170 c.879A>G c.(877-879)agA>agG p.R293R DICER1_ENST00000393063.1_Silent_p.R293R|DICER1_ENST00000343455.3_Silent_p.R293R|DICER1_ENST00000541352.1_Silent_p.R293R|DICER1_ENST00000527414.1_Silent_p.R293R Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 293 Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AAGTAGAATCTCTTTCTTTTG 0.274000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 6 137 0 0 0.217242 0 0 IDH1 3417 broad.mit.edu 37 2 209113177 209113177 + Missense_Mutation SNP T T G TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr2:209113177T>G ENST00000415913.1 - 4 711 c.330A>C c.(328-330)gaA>gaC p.E110D IDH1_ENST00000345146.2_Missense_Mutation_p.E110D|IDH1_ENST00000446179.1_Missense_Mutation_p.E110D O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 110 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) AGATAATGGCTTCTCTGAAGA 0.448000 Mis gliobastoma 4 120 0 0 0.150653 0 0 KCNF1 3754 broad.mit.edu 37 2 11053385 11053385 + Missense_Mutation SNP G G A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr2:11053385G>A ENST00000295082.1 + 1 1323 c.833G>A c.(832-834)cGc>cAc p.R278H NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 278 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) CTGGGTGCCCGCATGATGGAG 0.642000 3 39 0 0 0.115264 0 0 ZHX3 23051 broad.mit.edu 37 20 39832734 39832734 + Nonsense_Mutation SNP G G A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr20:39832734G>A ENST00000309060.3 - 4 1238 c.823C>T c.(823-825)Cag>Tag p.Q275* ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Nonsense_Mutation_p.Q275*|ZHX3_ENST00000544979.2_Nonsense_Mutation_p.Q275*|ZHX3_ENST00000540170.1_Nonsense_Mutation_p.Q275*|ZHX3_ENST00000560361.1_Nonsense_Mutation_p.Q275*|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Nonsense_Mutation_p.Q275* Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 275 Required for homodimerization and interaction with NFYA. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) GGCTGCTGCTGGAGGGAGAGG 0.607000 13 121 0 0 0.411799 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26107824 26107824 + Silent SNP G G A rs143215132 byFrequency TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr6:26107824G>A ENST00000338379.4 - 1 540 c.498C>T c.(496-498)agC>agT p.S166S NM_005323.3 NP_005314.2 P22492 H1T_HUMAN histone cluster 1, H1t 166 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 CCTTTCTCCCGCTCCTAACAG 0.473000 14 337 0 0 0.457914 0 0 ZNF514 84874 broad.mit.edu 37 2 95815929 95815929 + Missense_Mutation SNP C C T TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr2:95815929C>T ENST00000295208.2 - 5 763 c.301G>A c.(301-303)Gaa>Aaa p.E101K ZNF514_ENST00000411425.1_Missense_Mutation_p.E101K NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 ATGTGTTTTTCCACTGATACT 0.408000 23 364 0 0 0.681144 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 3 22 0 0 0.115264 0 0 RAB18 22931 broad.mit.edu 37 10 27826846 27826846 + Missense_Mutation SNP G G A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr10:27826846G>A ENST00000356940.6 + 7 589 c.487G>A c.(487-489)Gaa>Aaa p.E163K RAB18_ENST00000375802.3_Missense_Mutation_p.E118K|RAB18_ENST00000535776.1_Missense_Mutation_p.E99K|RAB18_ENST00000465772.1_3'UTR NM_001256410.1|NM_001256415.1|NM_021252.4 NP_001243339.1|NP_001243344.1|NP_067075.1 Q9NP72 RAB18_HUMAN RAB18, member RAS oncogene family 163 endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|GTPase activity|transcription factor binding kidney(1)|large_intestine(1)|lung(1) 3 ATGTGCCTTTGAAGAACTTGT 0.423000 13 286 0 0 0.457914 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070211 114070211 + Missense_Mutation SNP G G C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr3:114070211G>C ENST00000462705.1 - 11 1316 c.495C>G c.(493-495)caC>caG p.H165Q ZBTB20_ENST00000393785.2_Missense_Mutation_p.H165Q|ZBTB20_ENST00000474710.1_Missense_Mutation_p.H238Q|ZBTB20_ENST00000464560.1_Missense_Mutation_p.H165Q|ZBTB20_ENST00000357258.3_Missense_Mutation_p.H165Q|ZBTB20_ENST00000471418.1_Missense_Mutation_p.H165Q|ZBTB20_ENST00000481632.1_Missense_Mutation_p.H165Q NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 238 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TGTCCACGCTGTGCTGTGGGT 0.657000 9 180 0 0 0.335167 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606360 84606360 + Silent SNP G G A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr9:84606360G>A ENST00000344803.2 + 4 1022 c.975G>A c.(973-975)ccG>ccA p.P325P NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 AGACTTTTCCGGAAATGTTAT 0.483000 14 446 0 0 0.435327 0 0 CIB4 130106 broad.mit.edu 37 2 26806764 26806764 + Missense_Mutation SNP A A C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr2:26806764A>C ENST00000288861.4 - 5 384 c.331T>G c.(331-333)Ttt>Gtt p.F111V CIB4_ENST00000405346.3_5'UTR NM_001029881.1 NP_001025052.1 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 111 EF-hand 2. calcium ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCTCATTAAAATCTGCAAAG 0.542000 13 78 0 0 0.500413 0 0 DNAH2 146754 broad.mit.edu 37 17 7680805 7680805 + Missense_Mutation SNP C C G TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr17:7680805C>G ENST00000572933.1 + 33 6560 c.5100C>G c.(5098-5100)aaC>aaG p.N1700K DNAH2_ENST00000389173.2_Missense_Mutation_p.N1700K Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1700 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.N1700K(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCAGGGGGAACTTGACCAAGA 0.493000 20 827 0 0 0.592651 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70010458 70010458 + Missense_Mutation SNP G G A rs3206834 by1000genomes TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr16:70010458G>A ENST00000532298.1 - 7 819 c.820C>T c.(820-822)Ctt>Ttt p.L274F PDXDC2P_ENST00000531894.1_RNA breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 GAGGGTGGAAGGGGAATAAGA 0.512000 3 23 0 0 0.150653 0 0 PEG3 5178 broad.mit.edu 37 19 57335821 57335821 + Missense_Mutation SNP C C T TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr19:57335821C>T ENST00000326441.9 - 4 566 c.203G>A c.(202-204)cGa>cAa p.R68Q PEG3_ENST00000594706.1_Intron|PEG3_ENST00000598410.1_Intron|PEG3_ENST00000593695.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R68Q|ZIM2_ENST00000391708.3_5'UTR|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_5'UTR NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 68 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GCAGAGGTTTCGGAGTTTGAT 0.502000 4 150 0 0 0.150653 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433228 73433228 + Missense_Mutation SNP T T C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr3:73433228T>C ENST00000263666.4 - 10 2603 c.2489A>G c.(2488-2490)gAc>gGc p.D830G PDZRN3_ENST00000479530.1_Missense_Mutation_p.D547G|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D487G|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D487G|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D552G NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 830 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CTGGTTGGGGTCCAGCTCCTT 0.647000 8 49 0 0 0.335167 0 0 TSC1 7248 broad.mit.edu 37 9 135798791 135798791 + Missense_Mutation SNP A A T TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr9:135798791A>T ENST00000298552.3 - 6 673 c.452T>A c.(451-453)cTt>cAt p.L151H TSC1_ENST00000403810.1_Missense_Mutation_p.L151H|TSC1_ENST00000440111.2_Missense_Mutation_p.L151H|TSC1_ENST00000545250.1_Missense_Mutation_p.L100H|TSC1_ENST00000475903.1_5'UTR NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 151 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) GAAATCAAGAAGATGCTGTTT 0.473000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 5 83 0 0 0.184627 0 0 GRIA2 2891 broad.mit.edu 37 4 158281079 158281079 + Nonsense_Mutation SNP G G A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr4:158281079G>A ENST00000296526.7 + 13 2400 c.2075G>A c.(2074-2076)tGg>tAg p.W692* GRIA2_ENST00000449365.1_Nonsense_Mutation_p.W645*|GRIA2_ENST00000264426.9_Nonsense_Mutation_p.W692*|GRIA2_ENST00000507898.1_Nonsense_Mutation_p.W645*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.W645* NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 692 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.W692*(2) NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GATAAAATGTGGACCTACATG 0.458000 11 45 0 0 0.435327 0 0 RAB18 22931 broad.mit.edu 37 10 27826943 27826943 + Missense_Mutation SNP G G A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr10:27826943G>A ENST00000356940.6 + 7 686 c.584G>A c.(583-585)gGa>gAa p.G195E RAB18_ENST00000375802.3_Missense_Mutation_p.G150E|RAB18_ENST00000535776.1_Missense_Mutation_p.G131E|RAB18_ENST00000465772.1_3'UTR NM_001256410.1|NM_001256415.1|NM_021252.4 NP_001243339.1|NP_001243344.1|NP_067075.1 Q9NP72 RAB18_HUMAN RAB18, member RAS oncogene family 195 endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|GTPase activity|transcription factor binding kidney(1)|large_intestine(1)|lung(1) 3 GAAGGCCAAGGAGGAGGAGCC 0.413000 12 555 0 0 0.457914 0 0 SPG20 23111 broad.mit.edu 37 13 36903546 36903546 + Missense_Mutation SNP C C G TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr13:36903546C>G ENST00000451493.1 - 4 1334 c.1117G>C c.(1117-1119)Gac>Cac p.D373H SPG20_ENST00000494062.2_Missense_Mutation_p.D373H|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.D373H|SPG20_ENST00000438666.2_Missense_Mutation_p.D373H NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 373 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TTGCCTTGGTCCAACTGTTTC 0.408000 14 601 0 0 0.479597 0 0 RDH16 8608 broad.mit.edu 37 12 57351068 57351068 + Missense_Mutation SNP C C A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr12:57351068C>A ENST00000398138.3 - 1 1035 c.179G>T c.(178-180)tGt>tTt p.C60F RDH16_ENST00000360752.4_5'UTR NM_003708.3 NP_003699.3 O75452 RDH16_HUMAN retinol dehydrogenase 16 (all-trans) 60 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 CTCCGTCAGACATGCAGCCAG 0.587000 4 51 0.150653 0.155675 0.150653 1 0 ACER2 340485 broad.mit.edu 37 9 19424829 19424829 + Missense_Mutation SNP C C T TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr9:19424829C>T ENST00000340967.2 + 3 381 c.355C>T c.(355-357)Cgg>Tgg p.R119W ACER2_ENST00000380376.1_Missense_Mutation_p.R70W NM_001010887.2 NP_001010887.2 Q5QJU3 ACER2_HUMAN alkaline ceramidase 2 119 ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process integral to Golgi membrane ceramidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 13 AAAGATCTTTCGGAATGACCG 0.403000 13 195 0 0 0.411799 0 0 ARMC4 55130 broad.mit.edu 37 10 28284106 28284106 + Translation_Start_Site SNP C C T TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr10:28284106C>T ENST00000305242.5 - 0 58 NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GCTTAGCACACGCACTACATC 0.498000 4 58 0 0 0.150653 0 0 C20orf26 26074 broad.mit.edu 37 20 20232314 20232314 + Silent SNP C C T rs139746792 TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr20:20232314C>T ENST00000245957.5 + 20 2311 c.2235C>T c.(2233-2235)acC>acT p.T745T C20orf26_ENST00000389656.3_Silent_p.T101T|C20orf26_ENST00000377293.1_Silent_p.T101T|C20orf26_ENST00000377309.2_Silent_p.T101T NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 745 p.T745T(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) GTAGAATGACCGGCATAGACC 0.527000 13 230 0 0 0.457914 0 0 FAM47A 158724 broad.mit.edu 37 X 34149571 34149571 + Silent SNP G G A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chrX:34149571G>A ENST00000346193.3 - 1 876 c.825C>T c.(823-825)gaC>gaT p.D275D NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 275 p.D275D(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GAGCCCGTGCGTCTTCCAGCT 0.577000 15 40 0 0 0.500413 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 3 29 0 0 0.150653 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 3 62 0 0 0.150653 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961677 51961677 + Translation_Start_Site SNP G G A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr19:51961677G>A ENST00000321424.3 - 0 31 SIGLEC8_ENST00000340550.5_De_novo_Start_OutOfFrame|SIGLEC8_ENST00000430817.1_De_novo_Start_OutOfFrame NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GCCAGGGAACGTCTGTTCCTC 0.592000 7 28 0 0 0.307466 0 0 PIM2 11040 broad.mit.edu 37 X 48772395 48772395 + Missense_Mutation SNP T T A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chrX:48772395T>A ENST00000376509.4 - 4 686 c.497A>T c.(496-498)gAt>gTt p.D166V NM_006875.3 NP_006866.2 Q9P1W9 PIM2_HUMAN pim-2 oncogene 166 Protein kinase. anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 GATGTTCTCATCCTTGATGTC 0.537000 26 39 0 0 0.667858 0 0 GLRB 2743 broad.mit.edu 37 4 158060051 158060051 + Missense_Mutation SNP A A G TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr4:158060051A>G ENST00000264428.4 + 7 971 c.701A>G c.(700-702)aAa>aGa p.K234R GLRB_ENST00000509282.1_Missense_Mutation_p.K234R|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.K234R NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 234 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TTTGATATCAAAAAGGAAGAT 0.303000 5 36 0 0 0.217242 0 0 NR0B1 190 broad.mit.edu 37 X 30322723 30322723 + Missense_Mutation SNP C C A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chrX:30322723C>A ENST00000378970.4 - 2 1620 c.1386G>T c.(1384-1386)atG>atT p.M462I NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 462 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) GCATTTCCAGCATCATATCAT 0.443000 9 141 1.58986e-06 1.69951e-06 0.361761 1 0 SMARCA2 6595 broad.mit.edu 37 9 2056743 2056743 + Silent SNP C C T TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr9:2056743C>T ENST00000382203.1 + 7 1454 c.1245C>T c.(1243-1245)taC>taT p.Y415Y SMARCA2_ENST00000382194.1_Silent_p.Y415Y|SMARCA2_ENST00000357248.2_Silent_p.Y415Y|SMARCA2_ENST00000349721.2_Silent_p.Y415Y P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 415 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CCAAAGCATACAAACGGAGCA 0.562000 12 53 0 0 0.387290 0 0 RAB18 22931 broad.mit.edu 37 10 27826858 27826858 + Missense_Mutation SNP G G A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr10:27826858G>A ENST00000356940.6 + 7 601 c.499G>A c.(499-501)Gaa>Aaa p.E167K RAB18_ENST00000375802.3_Missense_Mutation_p.E122K|RAB18_ENST00000535776.1_Missense_Mutation_p.E103K|RAB18_ENST00000465772.1_3'UTR NM_001256410.1|NM_001256415.1|NM_021252.4 NP_001243339.1|NP_001243344.1|NP_067075.1 Q9NP72 RAB18_HUMAN RAB18, member RAS oncogene family 167 endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|GTPase activity|transcription factor binding kidney(1)|large_intestine(1)|lung(1) 3 AGAACTTGTTGAAAAGATCAT 0.448000 15 333 0 0 0.500413 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612509 16612509 + Missense_Mutation SNP T T A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr17:16612509T>A ENST00000443444.2 + 5 1278 c.1138T>A c.(1138-1140)Tac>Aac p.Y380N CCDC144A_ENST00000399273.1_Missense_Mutation_p.Y380N|CCDC144A_ENST00000340621.5_Missense_Mutation_p.Y379N|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000360524.8_Missense_Mutation_p.Y380N|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.Y380N A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 380 CTATCATCCATACTCTGGGTC 0.378000 25 100 0 0 0.693898 0 0 PDGFRB 5159 broad.mit.edu 37 5 149513224 149513224 + Missense_Mutation SNP C C T TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr5:149513224C>T ENST00000261799.4 - 6 1328 c.859G>A c.(859-861)Ggg>Agg p.G287R NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 287 Ig-like C2-type 3. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GTGTAGGTCCCCGAGTCTTCT 0.562000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 6 273 0 0 0.217242 0 0 ALPL 249 broad.mit.edu 37 1 21902393 21902394 + Frame_Shift_Ins INS - - C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr1:21902393_21902394insC ENST00000374840.3 + 10 1415_1416 c.1165_1166insC c.(1165-1167)cccfs p.P389fs ALPL_ENST00000539907.1_Frame_Shift_Ins_p.P312fs|ALPL_ENST00000374829.1_Frame_Shift_Ins_p.P35fs|ALPL_ENST00000425315.2_Frame_Shift_Ins_p.P389fs|ALPL_ENST00000374832.1_Frame_Shift_Ins_p.P389fs|ALPL_ENST00000540617.1_Frame_Shift_Ins_p.P334fs|ALPL_ENST00000374830.1_Frame_Shift_Ins_p.P35fs NM_000478.4 NP_000469.3 P05186 PPBT_HUMAN alkaline phosphatase, liver/bone/kidney 389 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) TGGTGGATACACCCCCCGTGGC 0.614 8 237 --- --- --- --- MYSM1 114803 broad.mit.edu 37 1 59133518 59133519 + Splice_Site DEL CT CT - TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr1:59133518_59133519delCT ENST00000472487.1 - 15 1881_1882 c.1842_splice c.e15+1 p.EV614_splice MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 614 MPN. histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) AGAGAACTTACTTCAACTACTT 0.287 13 134 --- --- --- --- DENND2D 79961 broad.mit.edu 37 1 111742337 111742338 + Frame_Shift_Ins INS - - C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr1:111742337_111742338insC ENST00000357640.4 - 2 379_380 c.150_151insG c.(148-153)ggagcafs p.A51fs DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Frame_Shift_Ins_p.A48fs NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 51 breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) AAGAAGTGCTGCCCCCCAGCAA 0.485 8 449 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145584150 145584151 + Frame_Shift_Ins INS - - G rs34574009 TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr1:145584150_145584151insG ENST00000393045.2 + 11 1391_1392 c.1301_1302insG c.(1300-1302)cggfs p.R434fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.R399fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 434 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGCCCAGTCCAGGGGGGAGATC 0.495 14 806 --- --- --- --- TMEM79 84283 broad.mit.edu 37 1 156255497 156255498 + Frame_Shift_Ins INS - - C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr1:156255497_156255498insC ENST00000405535.2 + 2 651_652 c.480_481insC c.(478-483)atccccfs p.IP160fs TMEM79_ENST00000295694.5_Frame_Shift_Ins_p.IP160fs|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 160 integral to membrane p.R163fs*17(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) GAACCTTCATGCCCCCCCGGGT 0.658 7 63 --- --- --- --- COPA 1314 broad.mit.edu 37 1 160268683 160268689 + Frame_Shift_Del DEL CTTGACA CTTGACA - TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr1:160268683_160268689delCTTGACA ENST00000241704.7 - 19 2152_2158 c.1923_1929delTGTCAAG c.(1921-1929)ttfs p.FVK641fs COPA_ENST00000368069.3_Frame_Shift_Del_p.FVK650fs NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 641 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTTTCTCATCCTTGACAAAATGCAGTG 0.449 34 218 --- --- --- --- NRBP1 29959 broad.mit.edu 37 2 27658017 27658018 + Frame_Shift_Ins INS - - C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr2:27658017_27658018insC ENST00000233557.3 + 8 1416_1417 c.584_585insC c.(583-585)gccfs p.A195fs NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.A195fs|NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.A195fs Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 1 195 Protein kinase. ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) CACTCCTGTGACCCCCCCATCA 0.589 8 130 --- --- --- --- SNRNP48 154007 broad.mit.edu 37 6 7606363 7606363 + Frame_Shift_Del DEL C C - TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr6:7606363delC ENST00000342415.5 + 8 965 c.906delC c.(904-906)agfs p.S302fs NM_152551.3 NP_689764.3 Q6IEG0 SNR48_HUMAN small nuclear ribonucleoprotein 48kDa (U11/U12) 302 Arg-rich. mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GGAGTAGAAGCCCACATAAAA 0.433 8 258 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 8 338 --- --- --- --- TESK1 7016 broad.mit.edu 37 9 35608959 35608960 + Frame_Shift_Ins INS - - C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr9:35608959_35608960insC ENST00000336395.5 + 10 1351_1352 c.1101_1102insC c.(1099-1104)tcccccfs p.SP367fs TESK1_ENST00000498522.1_3'UTR NM_006285.2 NP_006276.2 Q15569 TESK1_HUMAN testis-specific kinase 1 367 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 27 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CACCAGAATCACCCCCCAACTG 0.609 8 307 --- --- --- --- SPATA31D1 389763 broad.mit.edu 37 9 84605970 84605971 + Frame_Shift_Ins INS - - C rs111857392 by1000genomes TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr9:84605970_84605971insC ENST00000344803.2 + 4 632_633 c.585_586insC c.(583-588)ccccccfs p.PP195fs NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CCTCTCCACCACCCCCCTTAAT 0.564 9 423 --- --- --- --- PDCD11 22984 broad.mit.edu 37 10 105176292 105176293 + Frame_Shift_Ins INS - - A TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr10:105176292_105176293insA ENST00000369797.3 + 13 1657_1658 c.1563_1564insA c.(1561-1566)ctaaaafs p.LK521fs NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 521 S1 motif 5. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TGATGACCCTGAAAAAAACCCT 0.485 OREG0020494 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 250 --- --- --- --- ARRB1 408 broad.mit.edu 37 11 74988494 74988495 + Splice_Site INS - - G TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr11:74988494_74988495insG ENST00000420843.2 - 9 716 c.e9-2 ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site NM_004041.4 NP_004032.2 P49407 ARRB1_HUMAN arrestin, beta 1 G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(4)|large_intestine(2)|lung(4)|prostate(1) 11 GTAATAGATCTGGGGGGCATAA 0.550 8 475 --- --- --- --- RP11-686F15.2 0 broad.mit.edu 37 12 54149092 54149093 + RNA INS - - GT rs35346703 TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr12:54149092_54149093insGT ENST00000566418.1 + 0 152 TCCTGTTTGGGgtgtgtgtgtg 0.455 2 4 --- --- --- --- COL4A2 1284 broad.mit.edu 37 13 111156323 111156324 + Frame_Shift_Ins INS - - C rs34603892 TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr13:111156323_111156324insC ENST00000360467.5 + 44 4574_4575 c.4268_4269insC c.(4267-4269)gccfs p.A1423fs COL4A2-AS1_ENST00000417970.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1423 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding p.G1426fs*30(1) NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGGCCCCAGGGCCCCCCCGGAG 0.703 8 55 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23549377 23549378 + Frame_Shift_Ins INS - - G TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr14:23549377_23549378insG ENST00000262710.1 - 6 1667_1668 c.1340_1341insC c.(1339-1341)ggtfs p.G447fs ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 447 A -> P (in dbSNP:rs941719). apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GAATGAGGACAGCGGGGGCTGG 0.500 7 232 --- --- --- --- ATXN2L 11273 broad.mit.edu 37 16 28844621 28844622 + Frame_Shift_Ins INS - - C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr16:28844621_28844622insC ENST00000336783.4 + 14 2068_2069 c.1901_1902insC c.(1900-1902)accfs p.T634fs ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.T634fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.T634fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.T634fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.T634fs|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.T634fs|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.T640fs NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 634 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CAAACTGGCAGCCCCCCGGTGG 0.629 7 202 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30976302 30976303 + Frame_Shift_Ins INS - - C rs151298063 TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr16:30976302_30976303insC ENST00000262519.8 + 7 1925_1926 c.1239_1240insC c.(1237-1242)ctccccfs p.LP413fs NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 413 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CCTCCTACCTGCCCCCCGAGCC 0.678 7 263 --- --- --- --- BCL6B 255877 broad.mit.edu 37 17 6927857 6927858 + Frame_Shift_Ins INS - - C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr17:6927857_6927858insC ENST00000293805.5 + 4 631_632 c.539_540insC c.(538-540)gccfs p.A180fs BCL6B_ENST00000572216.1_3'UTR NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 180 Pro-rich. nucleus zinc ion binding p.S183fs*6(1) skin(1) 1 TGCAGTCAAGGCCCCCCCAGTC 0.619 12 229 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7796808 7796809 + Frame_Shift_Ins INS - - C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr17:7796808_7796809insC ENST00000380358.4 + 5 892_893 c.891_892insC c.(889-894)ggccccfs p.GP297fs CHD3_ENST00000330494.7_Frame_Shift_Ins_p.GP238fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.GP238fs NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 238 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CACCCTCCGGACCCCCCGCCCT 0.639 7 242 --- --- --- --- SCN4A 6329 broad.mit.edu 37 17 62049212 62049213 + Splice_Site INS - - G TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr17:62049212_62049213insG ENST00000435607.1 - 4 559 c.e4-2 SCN4A_ENST00000578147.1_Splice_Site NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) AAGGTGTACCTGGGGGGGAGAG 0.589 7 88 --- --- --- --- HIF3A 64344 broad.mit.edu 37 19 46811550 46811551 + Frame_Shift_Ins INS - - C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr19:46811550_46811551insC ENST00000339613.2 + 4 523_524 c.268_269insC c.(268-270)cccfs p.P90fs HIF3A_ENST00000420102.2_Frame_Shift_Ins_p.P95fs|HIF3A_ENST00000244303.6_Frame_Shift_Ins_p.P77fs|HIF3A_ENST00000377670.4_Frame_Shift_Ins_p.P146fs|HIF3A_ENST00000472815.1_Frame_Shift_Ins_p.P77fs|HIF3A_ENST00000300862.3_Frame_Shift_Ins_p.P144fs|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000600383.1_Frame_Shift_Ins_p.P77fs Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 146 PAS 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GGACGCCCTGACCCCCCAGCAG 0.604 9 325 --- --- --- --- SALL4 57167 broad.mit.edu 37 20 50400982 50400983 + Frame_Shift_Ins INS - - C TCGA-17-Z047-01A-01W-0747-08 TCGA-17-Z047-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c04cfa8-6e99-46fa-82ad-36fb96e5ffef 4e7c774d-e762-41a3-8d6a-b47c84575f0f g.chr20:50400982_50400983insC ENST00000217086.4 - 4 3094_3095 c.2983_2984insG c.(2983-2985)tccfs p.S995fs SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 995 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAGGGTAGGAACCCCCCCACTC 0.559 8 78 --- --- --- ---