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 ANKRD54 129138 broad.mit.edu 37 22 38236241 38236241 + Splice_Site SNP G G C TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr22:38236241G>C ENST00000215941.4 - 2 521 c.328_splice c.e2-1 p.A110_splice ANKRD54_ENST00000411961.2_Intron|ANKRD54_ENST00000406423.1_5'UTR NM_138797.2 NP_620152.1 Q6NXT1 ANR54_HUMAN ankyrin repeat domain 54 110 lung(1) 1 Melanoma(58;0.045) TCTCTTCAGAGCTGTAAAGAG 0.547000 3 100 0 0 0.004672 0 0 AP3B1 8546 broad.mit.edu 37 5 77452179 77452179 + Missense_Mutation SNP G G C TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr5:77452179G>C ENST00000255194.6 - 14 1551 c.1376C>G c.(1375-1377)gCt>gGt p.A459G AP3B1_ENST00000519295.1_Missense_Mutation_p.A410G NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 459 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) CACACTTTCAGCAACAACTAT 0.294000 Hermansky-Pudlak syndrome 27 43 0 0 0.030593 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 33 53 0 0 0.064281 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409862 105409862 + Missense_Mutation SNP G G A TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr14:105409862G>A ENST00000333244.5 - 7 12045 c.11926C>T c.(11926-11928)Ccg>Tcg p.P3976S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3976 nucleus p.P3976S(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCGAACGACGGCATCTTGAAC 0.617000 5 340 0 0 0.029380 0 0 HECTD4 283450 broad.mit.edu 37 12 112600941 112600941 + Missense_Mutation SNP C C T TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr12:112600941C>T ENST00000550722.1 - 75 12982 c.12587G>A c.(12586-12588)cGc>cAc p.R4196H HECTD4_ENST00000377560.5_Missense_Mutation_p.R4170H|HECTD4_ENST00000430131.2_Missense_Mutation_p.R3920H NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 p.R4170H(1)|p.R3920H(1) GAACGGGATGCGCTCCTGGTT 0.612000 4 103 0 0 0.009096 0 0 ADCY10 55811 broad.mit.edu 37 1 167829094 167829094 + Missense_Mutation SNP A A G TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr1:167829094A>G ENST00000367848.1 - 16 2068 c.1571T>C c.(1570-1572)tTg>tCg p.L524S ADCY10_ENST00000545172.1_Missense_Mutation_p.L463S|ADCY10_ENST00000367851.4_Missense_Mutation_p.L616S Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 616 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TTGCTTTTTCAAGGTGCTCAT 0.393000 4 174 0 0 0.014758 0 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr12:113515335T>G ENST00000257600.3 + 2 869 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 3 37 0 0 0.004672 0 0 NCOA4 8031 broad.mit.edu 37 10 51585100 51585100 + Missense_Mutation SNP T T G TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr10:51585100T>G ENST00000452682.1 + 9 1499 c.1247T>G c.(1246-1248)gTa>gGa p.V416G NCOA4_ENST00000374087.4_Missense_Mutation_p.V400G|NCOA4_ENST00000344348.6_Missense_Mutation_p.V400G|NCOA4_ENST00000430396.2_Missense_Mutation_p.V300G|NCOA4_ENST00000374082.1_Missense_Mutation_p.V400G|NCOA4_ENST00000414907.2_Missense_Mutation_p.V234G|NCOA4_ENST00000443446.1_Missense_Mutation_p.V400G|NCOA4_ENST00000438493.1_Missense_Mutation_p.V416G NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 400 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 CCATGTAAGGTAGAGGAGGTG 0.507000 T RET papillary thyroid 6 44 0 0 0.093190 0 0 MUC17 140453 broad.mit.edu 37 7 100679466 100679466 + Missense_Mutation SNP C C A TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr7:100679466C>A ENST00000306151.4 + 3 4833 c.4769C>A c.(4768-4770)gCt>gAt p.A1590D NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1590 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) AGTTCTGAGGCTAACACCCTT 0.488000 83 173 6.11987e-43 7.86841e-43 0.048971 1 0 LCT 3938 broad.mit.edu 37 2 136567521 136567521 + Missense_Mutation SNP C C T TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr2:136567521C>T ENST00000264162.2 - 8 2406 c.2396G>A c.(2395-2397)cGt>cAt p.R799H NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 799 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AATGAGGGAACGAGCAATGTA 0.438000 23 47 0 0 0.062417 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111862267 111862267 + Missense_Mutation SNP G G A TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr13:111862267G>A ENST00000375741.2 + 5 699 c.449G>A c.(448-450)cGc>cAc p.R150H ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000544132.1_Intron NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 150 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TCGTCTCACCGCATAAAGTCT 0.517000 5 135 0 0 0.014758 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891209 18891209 + Missense_Mutation SNP C C A TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr12:18891209C>A ENST00000317658.3 + 1 165 c.7C>A c.(7-9)Ctt>Att p.L3I NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 3 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding p.L3V(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) AAACATGACACTTAGCGTGCT 0.438000 5 89 3.59834e-05 4.49792e-05 0.021553 1 0 PRODH2 58510 broad.mit.edu 37 19 36303117 36303117 + Silent SNP C C T TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr19:36303117C>T ENST00000301175.3 - 4 674 c.657G>A c.(655-657)cgG>cgA p.R219R NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 219 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCAGGAGGCCCCGTGACAGGT 0.647000 22 45 0 0 0.062417 0 0 SF3B3 23450 broad.mit.edu 37 16 70569224 70569224 + Silent SNP A A T TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr16:70569224A>T ENST00000302516.5 + 6 937 c.726A>T c.(724-726)tcA>tcT p.S242S NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 242 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) CAGGAGGGTCAGATGGTCCAA 0.448000 92 140 0 0 0.048971 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 4 86 0 0 0.009096 0 0 OGFR 11054 broad.mit.edu 37 20 61444704 61444704 + Silent SNP G G A TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr20:61444704G>A ENST00000370461.1 + 5 3858 c.1581G>A c.(1579-1581)tcG>tcA p.S527S OGFR_ENST00000370468.3_Intron|OGFR_ENST00000290291.6_Silent_p.S579S Q9NZT2 OGFR_HUMAN opioid growth factor receptor 579 7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK]. regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) AGAGCCCATCGGAGACCCCAG 0.741000 3 9 0 0 0.029380 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 6 34 0 0 0.038147 0 0 DPP7 29952 broad.mit.edu 37 9 140007195 140007195 + Splice_Site SNP A A C TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr9:140007195A>C ENST00000371579.2 - 8 936 c.e8+1 NM_013379.2 NP_037511.2 Q9UHL4 DPP2_HUMAN dipeptidyl-peptidase 7 cytoplasmic membrane-bounded vesicle|extracellular region|lysosome aminopeptidase activity|protein binding|serine-type peptidase activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633) GGGGAAGGGCACCTGCCAGTG 0.721000 3 14 0 0 0.004672 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 3 53 0 0 0.004672 0 0 FLI1 2313 broad.mit.edu 37 11 128642762 128642762 + Silent SNP C C T TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr11:128642762C>T ENST00000344954.6 + 4 760 c.372C>T c.(370-372)tcC>tcT p.S124S FLI1_ENST00000429175.2_Silent_p.S157S|FLI1_ENST00000281428.8_Silent_p.S91S|FLI1_ENST00000534087.1_Silent_p.S124S|FLI1_ENST00000525560.1_Intron Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 157 PNT. hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) TCGACACATCCTTTTTCCAGA 0.522000 T EWSR1 Ewing sarcoma 4 172 0 0 0.009096 0 0 TSIX 0 broad.mit.edu 37 X 73043675 73043675 + RNA SNP A A G TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chrX:73043675A>G ENST00000604411.1 + 0 31636 XIST_ENST00000429829.1_lincRNA NR_003255.2 TCACACCTATATTACTTCATT 0.368000 4 105 0 0 0.014758 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664639 22664639 + RNA SNP G G A rs9306349 by1000genomes TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr22:22664639G>A ENST00000426066.1 + 0 820 NR_027293.1 CCAGCCTTCTGTAACCCAGTA 0.428000 4 17 0 0 0.014758 0 0 PCDHB6 0 broad.mit.edu 37 5 140531461 140531461 + Missense_Mutation SNP C C A rs61730259 TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr5:140531461C>A ENST00000231136.1 + 1 1623 c.1623C>A c.(1621-1623)agC>agA p.S541R PCDHB6_ENST00000543635.1_Missense_Mutation_p.S405R NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 541 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGTTGAGCAGCGAGGCGCTGG 0.682000 3 102 0.004672 0.00568216 0.004672 1 0 GIP 2695 broad.mit.edu 37 17 47039134 47039134 + Missense_Mutation SNP G G A TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr17:47039134G>A ENST00000357424.2 - 4 405 c.305C>T c.(304-306)gCc>gTc p.A102V NM_004123.2 NP_004114.1 P09681 GIP_HUMAN gastric inhibitory polypeptide 102 energy reserve metabolic process|signal transduction extracellular region|soluble fraction hormone activity lung(2)|skin(1)|stomach(1) 4 AGCTTGACTGGCCAGCTCCAG 0.617000 3 27 0 0 0.014758 0 0 IGKV1-5 0 broad.mit.edu 37 2 89247307 89247307 + RNA SNP C C G TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr2:89247307C>G ENST00000496168.1 - 0 168 TGTGTCCTGACTGGGTCTGAC 0.562000 4 105 0 0 0.029380 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999058 46999058 + Nonsense_Mutation SNP C C T TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr10:46999058C>T ENST00000374314.4 + 1 1133 c.178C>T c.(178-180)Cag>Tag p.Q60* GPRIN2_ENST00000374317.1_Nonsense_Mutation_p.Q60* O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 60 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CACCAGACCCCAGGCCCCGGA 0.701000 12 54 0 0 0.080935 0 0 DDX27 55661 broad.mit.edu 37 20 47845343 47845343 + Silent SNP C C T TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr20:47845343C>T ENST00000371764.4 + 8 900 c.891C>T c.(889-891)ccC>ccT p.P297P DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 297 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGCTAGTGCCCACCCGAGAGC 0.602000 46 42 0 0 0.045515 0 0 CACHD1 57685 broad.mit.edu 37 1 65113681 65113681 + Missense_Mutation SNP G G A TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr1:65113681G>A ENST00000371073.2 + 9 1354 c.1354G>A c.(1354-1356)Gtc>Atc p.V452I CACHD1_ENST00000290039.5_Missense_Mutation_p.V401I|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 452 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TGATGAAGCCGTCTTCAGCCT 0.488000 3 26 0 0 0.004672 0 0 UNC79 57578 broad.mit.edu 37 14 94079271 94079271 + Missense_Mutation SNP G G A TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr14:94079271G>A ENST00000553484.1 + 28 4103 c.3949G>A c.(3949-3951)Gct>Act p.A1317T UNC79_ENST00000256339.4_Missense_Mutation_p.A1118T|UNC79_ENST00000393151.2_Missense_Mutation_p.A1295T|UNC79_ENST00000555664.1_Missense_Mutation_p.A1295T Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1295 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGAAAGCAGCGCTGAGTCAGA 0.527000 22 38 0 0 0.076483 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 6 49 0 0 0.029380 0 0 SLA 6503 broad.mit.edu 37 8 134062170 134062170 + Missense_Mutation SNP T T C TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr8:134062170T>C ENST00000338087.5 - 5 1044 c.225A>G c.(223-225)atA>atG p.I75M SLA_ENST00000395352.3_Missense_Mutation_p.I92M|SLA_ENST00000524345.1_De_novo_Start_InFrame|TG_ENST00000220616.4_Intron|SLA_ENST00000518565.1_5'UTR|TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.I115M|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.I92M NM_001045556.2 NP_001039021.1 Q13239 SLAP1_HUMAN Src-like-adaptor 75 SH3. endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) TGGCCACACATATTCCAGGGA 0.448000 22 33 0 0 0.091800 0 0 TECPR2 9895 broad.mit.edu 37 14 102901026 102901026 + Silent SNP G G A rs145129878 TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr14:102901026G>A ENST00000359520.7 + 9 2098 c.1872G>A c.(1870-1872)gcG>gcA p.A624A TECPR2_ENST00000558678.1_Silent_p.A624A NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 624 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CTCCTGGGGCGCATGATGGGG 0.567000 4 35 0 0 0.009096 0 0 TMEM38B 55151 broad.mit.edu 37 9 108510354 108510354 + Splice_Site SNP C C T TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr9:108510354C>T ENST00000374688.1 + 5 1091 c.380_splice c.e5-1 p.Y127_splice TMEM38B_ENST00000374692.3_Splice_Site_p.Y181_splice Q9NVV0 TM38B_HUMAN transmembrane protein 38B 181 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 TTATTTTCAGCCCTGCCAAGG 0.363000 4 58 0 0 0.009096 0 0 POLR1B 84172 broad.mit.edu 37 2 113332659 113332661 + In_Frame_Del DEL CCA CCA - TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr2:113332659_113332661delCCA ENST00000263331.5 + 15 3341_3343 c.2761_2763delCCA c.(2761-2763)del p.P921del POLR1B_ENST00000409894.3_In_Frame_Del_p.P738del|POLR1B_ENST00000537335.1_In_Frame_Del_p.P710del|POLR1B_ENST00000541869.1_In_Frame_Del_p.P959del|POLR1B_ENST00000417433.2_In_Frame_Del_p.P865del NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 921 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 CCATGGTTTTCCATCCCGCATGA 0.507 40 88 --- --- --- --- TMEM8C 389827 broad.mit.edu 37 9 136379889 136379890 + Frame_Shift_Ins INS - - G rs17758315 byFrequency TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr9:136379889_136379890insG ENST00000339996.3 - 5 635_636 c.534_535insC c.(532-537)tatccafs p.P179fs NM_001080483.2 NP_001073952.1 A6NI61 TMM8C_HUMAN transmembrane protein 8C 179 integral to membrane NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4) 8 AAGCTGTGGACATAAGTGTAGT 0.634 11 46 --- --- --- --- ANKLE1 126549 broad.mit.edu 37 19 17394682 17394682 + Frame_Shift_Del DEL T T - TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr19:17394682delT ENST00000394458.3 + 5 1385 c.1109delT c.(1108-1110)ccfs p.L370fs ANKLE1_ENST00000594072.1_Frame_Shift_Del_p.L359fs|ANKLE1_ENST00000598347.1_Frame_Shift_Del_p.L370fs|ANKLE1_ENST00000433424.2_Frame_Shift_Del_p.L424fs|ANKLE1_ENST00000404085.1_Frame_Shift_Del_p.L392fs NM_152363.4 NP_689576.4 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 370 LEM. nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 CTGAAGGGACTCCGAGCACTT 0.577 21 39 --- --- --- --- CYP2D7P1 0 broad.mit.edu 37 22 42539538 42539538 + RNA DEL C C - TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chr22:42539538delC ENST00000433992.1 - 0 336 CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 CCACCGGCGTCCAGGCCAGCT 0.706 2 4 --- --- --- --- RP11-308D16.4 0 broad.mit.edu 37 X 136030245 136030245 + RNA DEL T T - TCGA-BJ-A2P4-01A-11D-A18F-08 TCGA-BJ-A2P4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64bb0fec-acc3-43ac-b80d-c267d9fca3e9 464d968e-2efa-4aa0-8483-4cfa938005f7 g.chrX:136030245delT ENST00000424306.1 + 0 2052 GAGAACCTGCTTTTTTTTTTT 0.438 2 4 --- --- --- ---