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 OBSCN 84033 broad.mit.edu 37 1 228528530 228528530 + Missense_Mutation SNP G G A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr1:228528530G>A ENST00000570156.2 + 83 20583 c.20509G>A c.(20509-20511)Gtg>Atg p.V6837M OBSCN_ENST00000422127.1_Missense_Mutation_p.V5880M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V2999M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V3514M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V5880M NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5880 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.V6462M(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAAGCTGCACGTGTCCCTCAT 0.672000 4 9 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72130068 72130068 + Silent SNP C C T TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr16:72130068C>T ENST00000268482.3 + 2 521 c.12C>T c.(10-12)acC>acT p.T4T DHX38_ENST00000536867.1_Silent_p.T4T NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 4 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.T4T(1) endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) TGGGGGACACCAGTGAGGATG 0.498000 5 149 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65489559 65489559 + Missense_Mutation SNP C C T TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr15:65489559C>T ENST00000261883.4 - 9 3231 c.3065G>A c.(3064-3066)cGc>cAc p.R1022H NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 1022 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix p.R1022H(1) breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CACCAGGGTGCGGTCCACACG 0.592000 5 77 0 0 1 0 0 MFHAS1 9258 broad.mit.edu 37 8 8749969 8749969 + Silent SNP C C A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr8:8749969C>A ENST00000276282.6 - 1 1186 c.600G>T c.(598-600)ctG>ctT p.L200L NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 200 p.L200L(1) endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) CCAGCTGCAGCAGCTGCCGGG 0.672000 3 22 1 1 1 1 0 DHTKD1 55526 broad.mit.edu 37 10 12143062 12143062 + Missense_Mutation SNP G G A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr10:12143062G>A ENST00000263035.4 + 10 1840 c.1778G>A c.(1777-1779)gGc>gAc p.G593D NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 593 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.G593D(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) CGTCTAAGTGGCCAAGATGTT 0.408000 16 349 0 0 1 0 0 PCDHGA2 0 broad.mit.edu 37 5 140720213 140720213 + Missense_Mutation SNP G G A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr5:140720213G>A ENST00000394576.2 + 1 1675 c.1675G>A c.(1675-1677)Gcg>Acg p.A559T PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.A559T(2) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACGACAACGCGCCCGAGAT 0.622000 14 278 0 0 1 0 0 RP13-996F3.4 0 broad.mit.edu 37 15 83014106 83014106 + Silent SNP T T C TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr15:83014106T>C ENST00000557886.1 - 6 576 c.477A>G c.(475-477)gtA>gtG p.V159V p.V159V(12) endometrium(6)|kidney(5)|prostate(1) 12 GTAGCTGCTCTACCTTAGATG 0.498000 3 2 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40476777 40476777 + Nonsense_Mutation SNP G G A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr17:40476777G>A ENST00000264657.5 - 17 1864 c.1552C>T c.(1552-1554)Cga>Tga p.R518* STAT3_ENST00000588969.1_Nonsense_Mutation_p.R518*|STAT3_ENST00000585517.1_Nonsense_Mutation_p.R518*|STAT3_ENST00000404395.3_Nonsense_Mutation_p.R518*|STAT3_ENST00000389272.3_Nonsense_Mutation_p.R420* NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 518 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding p.R518*(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) CTCAGTCCTCGCTTGGTGGTG 0.547000 Hyperimmunoglobulin E Recurrent Infection Syndrome 5 114 0 0 1 0 0 PDCD1 5133 broad.mit.edu 37 2 242794939 242794939 + Silent SNP G G T TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr2:242794939G>T ENST00000334409.5 - 2 339 c.270C>A c.(268-270)ggC>ggA p.G90G NM_005018.2 NP_005009.2 Q15116 PDCD1_HUMAN programmed cell death 1 90 Ig-like V-type. apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity p.G90G(1) endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) GGCAGTCCTGGCCGGGCTGGC 0.647000 5 44 0.00116845 0.00127467 1 1 0 CCDC71 64925 broad.mit.edu 37 3 49201589 49201589 + Missense_Mutation SNP C C T TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr3:49201589C>T ENST00000321895.6 - 2 159 c.53G>A c.(52-54)cGc>cAc p.R18H NM_022903.3 NP_075054.3 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 18 p.R18H(1) endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CGTGGAGATGCGCGACCAGGA 0.572000 5 97 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102825947 102825947 + RNA SNP A A G TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr7:102825947A>G ENST00000312132.4 - 0 3750 ACAGCTTGACACTTGCCATTG 0.373000 5 117 0 0 1 0 0 SGSM2 9905 broad.mit.edu 37 17 2267466 2267466 + Missense_Mutation SNP G G T TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr17:2267466G>T ENST00000268989.3 + 8 1098 c.921G>T c.(919-921)gaG>gaT p.E307D SGSM2_ENST00000426855.2_Missense_Mutation_p.E307D|SGSM2_ENST00000574563.1_Missense_Mutation_p.E307D NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 307 intracellular Rab GTPase activator activity p.E307D(1) biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) GGGACTCCGAGCTGGAAAAGA 0.617000 3 83 1 1 1 1 0 PCDHA10 0 broad.mit.edu 37 5 140235694 140235694 + Missense_Mutation SNP G G A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr5:140235694G>A ENST00000307360.5 + 1 61 c.61G>A c.(61-63)Gca>Aca p.A21T PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A21T|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.A21T(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTCTCCTCGCAGCCTGGGA 0.597000 7 58 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143089660 143089660 + Missense_Mutation SNP G G A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr6:143089660G>A ENST00000367603.2 - 6 5943 c.5201C>T c.(5200-5202)gCg>gTg p.A1734V HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1734V|HIVEP2_ENST00000367604.1_Missense_Mutation_p.A1734V NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1734 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A1734V(1) NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TAAAAAGGACGCATCAGGTTT 0.398000 11 216 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35042438 35042438 + Nonsense_Mutation SNP C C T rs144687989 TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr9:35042438C>T ENST00000312292.5 + 1 234 c.187C>T c.(187-189)Cga>Tga p.R63* C9orf131_ENST00000421362.2_Nonsense_Mutation_p.R15*|C9orf131_ENST00000354479.5_Intron|FLJ00273_ENST00000595331.1_Silent_p.S129S NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 63 p.R63*(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) TGGGAGGTTGCGACAGCTTCA 0.532000 3 92 0 0 1 0 0 GUSBP1 0 broad.mit.edu 37 5 21497235 21497235 + RNA SNP C C T rs141635554 by1000genomes TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr5:21497235C>T ENST00000607545.1 + 0 179 NR_027026.1 AGTTTGAGAACTGGTGTAAGA 0.488000 4 58 0 0 1 0 0 SCAI 286205 broad.mit.edu 37 9 127790688 127790688 + Missense_Mutation SNP C C A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr9:127790688C>A ENST00000336505.5 - 5 454 c.396G>T c.(394-396)caG>caT p.Q132H SCAI_ENST00000373549.4_Missense_Mutation_p.Q155H NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion 132 Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity). negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity p.Q155H(9) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 GATAGTATAGCTGCCCAATCT 0.338000 12 163 2.10051e-16 2.36307e-16 1 1 0 ITGAM 3684 broad.mit.edu 37 16 31332891 31332891 + Missense_Mutation SNP G G A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr16:31332891G>A ENST00000544665.3 + 16 2019 c.1948G>A c.(1948-1950)Gga>Aga p.G650R ITGAM_ENST00000287497.8_Missense_Mutation_p.G649R NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 649 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity p.G649R(2) endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CAAGGAAGCCGGAGAGGTCAG 0.517000 16 304 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43513626 43513626 + Silent SNP C C T TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr11:43513626C>T ENST00000039989.4 + 23 3221 c.3207C>T c.(3205-3207)gaC>gaT p.D1069D NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 1069 binding p.D1069D(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 TCTGGAATGACGCCGTCATAG 0.517000 14 393 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76471408 76471408 + Silent SNP G G A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr17:76471408G>A ENST00000389840.5 - 54 8545 c.8421C>T c.(8419-8421)gaC>gaT p.D2807D DNAH17_ENST00000585328.1_Silent_p.D2816D|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 p.D2816D(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCTGAAACACGTCAAGCCCGC 0.607000 5 168 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 104 0 0 1 0 0 ANKMY2 57037 broad.mit.edu 37 7 16676046 16676046 + Missense_Mutation SNP G G C TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr7:16676046G>C ENST00000306999.2 - 2 345 c.102C>G c.(100-102)agC>agG p.S34R NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 34 cilium zinc ion binding p.S34R(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) GAACATTCTTGCTGGATAATA 0.289000 3 65 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 6 115 0 0 1 0 0 HCFC2 29915 broad.mit.edu 37 12 104487295 104487295 + Silent SNP T T G rs138874026 TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr12:104487295T>G ENST00000229330.4 + 10 1520 c.1416T>G c.(1414-1416)gcT>gcG p.A472A HCFC2_ENST00000550335.1_3'UTR NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 472 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity p.A472A(1) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 CATCAAATGCTTCTAATCATA 0.333000 8 197 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67137639 67137639 + Missense_Mutation SNP C C A TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr1:67137639C>A ENST00000371037.4 + 11 598 c.521C>A c.(520-522)gCa>gAa p.A174E SGIP1_ENST00000371035.3_Missense_Mutation_p.A131E|SGIP1_ENST00000371036.3_Missense_Mutation_p.A141E|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000371039.1_Missense_Mutation_p.A142E|SGIP1_ENST00000237247.6_Missense_Mutation_p.A178E|SGIP1_ENST00000468286.1_3'UTR NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 174 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding p.A142E(1)|p.A174E(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 GAAGAAGTGGCAAGACCCAGG 0.378000 3 77 1 1 1 1 0 RP5-896L10.1 0 broad.mit.edu 37 1 99474094 99474094 + RNA DEL A A - rs57656522 TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr1:99474094delA ENST00000425113.1 + 0 370 NR_033940.1 AACAGCAACTAAAAAAAAAAA 0.353 2 4 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284515 38284520 + RNA DEL GAAAAG GAAAAG - TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr7:38284515_38284520delGAAAAG ENST00000436911.2 - 0 378 agaaaaaaaagaaaagaaaaaaGACA 0.408 2 4 --- --- --- --- STAG3L4 0 broad.mit.edu 37 7 66772495 66772495 + RNA DEL T T - TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr7:66772495delT ENST00000416602.2 + 0 362 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) GCTTGATTCCTTTTTTTTTTT 0.423 2 4 --- --- --- --- LTN1 26046 broad.mit.edu 37 21 30339206 30339206 + Frame_Shift_Del DEL T T - TCGA-EJ-5506-01A-01D-1576-08 TCGA-EJ-5506-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9 30a0b8d5-11a9-4367-9979-d2c6906f30cc g.chr21:30339206delT ENST00000361371.4 - 10 1757 c.1607delA c.(1606-1608)atfs p.N536fs LTN1_ENST00000389194.2_Frame_Shift_Del_p.N582fs|LTN1_ENST00000389195.2_Frame_Shift_Del_p.N582fs NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 536 ligase activity|zinc ion binding p.N536fs*33(1) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 AACCTTACCATTTTTTTTTTT 0.378 12 132 --- --- --- ---