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 UBP1 7342 broad.mit.edu 37 3 33467138 33467138 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr3:33467138G>A ENST00000283629.3 - 2 738 c.209C>T c.(208-210)gCt>gTt p.A70V UBP1_ENST00000283628.5_Missense_Mutation_p.A70V|UBP1_ENST00000447368.2_Missense_Mutation_p.A70V NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 70 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 TGACGTTGCAGCACACATCAC 0.423000 4 134 0 0 1 0 0 TEKT4 150483 broad.mit.edu 37 2 95542449 95542449 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:95542449C>T ENST00000295201.4 + 6 1380 c.1243C>T c.(1243-1245)Cgc>Tgc p.R415C AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 415 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 CTTCATCGACCGCCAGAAGTG 0.602000 5 164 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30976932 30976932 + Missense_Mutation SNP G G C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr16:30976932G>C ENST00000262519.8 + 8 2416 c.1730G>C c.(1729-1731)tGc>tCc p.C577S NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 577 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 GCTTCTCCATGCTCTTCTGGA 0.657000 4 260 0 0 1 0 0 CASP1 834 broad.mit.edu 37 11 104904955 104904955 + Missense_Mutation SNP C C T rs2509649 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:104904955C>T ENST00000533400.1 - 2 289 c.254G>A c.(253-255)gGg>gAg p.G85E CASP1_ENST00000528974.1_Missense_Mutation_p.G46E|CASP1_ENST00000593315.1_Missense_Mutation_p.G85E|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000598974.1_Missense_Mutation_p.G85E|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E|CASP1_ENST00000353247.5_Intron NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 85 CARD. cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding p.G85E(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) TCCCAGCGTCCCTGCCAGGTA 0.468000 6 450 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66188745 66188745 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:66188745C>T ENST00000311034.2 + 1 271 c.95C>T c.(94-96)gCg>gTg p.A32V NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 32 Helix-loop-helix motif. transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CTGGCCGAAGCGGACAAGGTC 0.647000 5 170 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 12 66 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32023635 32023635 + Silent SNP A A G TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr6:32023635A>G ENST00000375244.3 - 24 8661 c.8460T>C c.(8458-8460)ggT>ggC p.G2820G TNXB_ENST00000375247.2_Silent_p.G2820G P22105 TENX_HUMAN tenascin XB 2878 Fibronectin type-III 20. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.G2820G(1)|p.G2907G(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CACCTGTCACACCCACGGTGG 0.582000 12 328 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146080672 146080672 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr5:146080672G>A ENST00000394413.3 - 2 674 c.104C>T c.(103-105)aCg>aTg p.T35M PPP2R2B_ENST00000356826.3_Missense_Mutation_p.T35M|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.T38M|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.T35M|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.T24M|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.T24M|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.T93M|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.T41M|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.T35M|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.T101M|PPP2R2B_ENST00000530902.1_5'UTR Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 35 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAATTCTCCCGTGTGGTTGAA 0.423000 8 1400 0 0 1 0 0 TMEM30B 161291 broad.mit.edu 37 14 61746986 61746986 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr14:61746986G>A ENST00000555868.1 - 1 1572 c.880C>T c.(880-882)Cgc>Tgc p.R294C TMEM30B_ENST00000557163.1_5'UTR|TMEM30B_ENST00000355702.2_Missense_Mutation_p.R294C NM_001017970.2 NP_001017970.1 Q3MIR4 CC50B_HUMAN transmembrane protein 30B 294 integral to membrane p.V293fs*>57(1) breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181) CCGAACGCGCGCACCGGGTAG 0.657000 4 162 0 0 1 0 0 P2RX7 5027 broad.mit.edu 37 12 121592733 121592733 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:121592733G>A ENST00000546057.1 + 2 414 c.271G>A c.(271-273)Gca>Aca p.A91T P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.A91T NM_002562.5 NP_002553.3 A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 91 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTTTGACACCGCAGACTACAC 0.557000 5 403 0 0 1 0 0 SARS2 54938 broad.mit.edu 37 19 39421234 39421234 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:39421234G>A ENST00000221431.6 - 1 302 c.143C>T c.(142-144)gCg>gTg p.A48V SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V NM_017827.3 NP_060297.1 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2, mitochondrial 48 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GCCCTCGCGCGCATACTCGTA 0.627000 OREG0025455 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 670 0 0 1 0 0 UGT1A7 0 broad.mit.edu 37 2 234591304 234591304 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:234591304G>A ENST00000373426.3 + 1 721 c.721G>A c.(721-723)Gca>Aca p.A241T UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron NM_019077.2 NP_061950.2 NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1) 33 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCCTGTCACGGCATATGATCT 0.413000 7 1337 0 0 1 0 0 ZIC2 7546 broad.mit.edu 37 13 100635062 100635062 + Silent SNP G G C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr13:100635062G>C ENST00000376335.3 + 1 1037 c.744G>C c.(742-744)cgG>cgC p.R248R NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 248 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity). brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCTATATGCGGCAGCAGTGCA 0.562000 13 491 0 0 1 0 0 LCE1A 353131 broad.mit.edu 37 1 152800035 152800035 + Silent SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:152800035C>T ENST00000335123.2 + 1 87 c.87C>T c.(85-87)tgC>tgT p.C29C NM_178348.2 NP_848125.1 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 29 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ctcctaagtgccccccaaagt 0.667000 6 542 0 0 1 0 0 HAS1 3036 broad.mit.edu 37 19 52220299 52220299 + Nonsense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:52220299G>A ENST00000540069.2 - 3 907 c.847C>T c.(847-849)Cga>Tga p.R283* HAS1_ENST00000601714.1_Nonsense_Mutation_p.R291*|HAS1_ENST00000222115.1_Nonsense_Mutation_p.R284*|HAS1_ENST00000594621.1_Nonsense_Mutation_p.R138* Q92839 HAS1_HUMAN hyaluronan synthase 1 284 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) ACCCAGTATCGCAGGCTGCTT 0.602000 153 391 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804477 27804477 + Missense_Mutation SNP G G A rs112465116 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:27804477G>A ENST00000408964.2 + 1 5089 c.5038G>A c.(5038-5040)Ggt>Agt p.G1680S NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1680 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GAGCCATCGCGGTCCCTCAGA 0.572000 8 936 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4511842 4511842 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:4511842G>A ENST00000301286.3 - 3 2087 c.2088C>T c.(2086-2088)gtC>gtT p.V696V NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 696 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 TCCCTTTGGCGACATTCACTG 0.602000 234 1660 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807353 20807353 + Missense_Mutation SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:20807353T>C ENST00000601440.1 - 4 1476 c.1330A>G c.(1330-1332)Agg>Ggg p.R444G CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TGAATTCTCCTATGTGTAGTA 0.373000 4 296 0 0 1 0 0 MANEAL 149175 broad.mit.edu 37 1 38265867 38265867 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:38265867C>T ENST00000373045.6 + 4 1747 c.1366C>T c.(1366-1368)Ctc>Ttc p.L456F RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.L234F|MANEAL_ENST00000525897.1_Missense_Mutation_p.L262F|MANEAL_ENST00000397631.3_3'UTR NM_001113482.1 NP_001106954.1 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like 456 Golgi membrane|integral to membrane hydrolase activity endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3) 7 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GGAGCAGTGGCTCATGTGAGG 0.582000 37 269 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 6 317 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98377121 98377121 + Missense_Mutation SNP G G T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:98377121G>T ENST00000186436.5 - 38 5271 c.5043C>A c.(5041-5043)aaC>aaA p.N1681K NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1681 Ser-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 AACCTGTTTTGTTTGAAGAAA 0.507000 35 64 2.20474e-14 2.38846e-14 1 1 0 BRAP 8315 broad.mit.edu 37 12 112103575 112103575 + Missense_Mutation SNP A A T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:112103575A>T ENST00000419234.4 - 6 957 c.764T>A c.(763-765)gTg>gAg p.V255E BRAP_ENST00000539060.1_Missense_Mutation_p.V76E|BRAP_ENST00000327551.6_Missense_Mutation_p.V225E NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 255 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 CAGGTCCATCACTGGGAGGCT 0.502000 4 271 0 0 1 0 0 ZDHHC5 25921 broad.mit.edu 37 11 57456082 57456082 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:57456082G>A ENST00000287169.3 + 4 1691 c.329G>A c.(328-330)cGc>cAc p.R110H ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R57H NM_015457.2 NP_056272.2 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC-type containing 5 110 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 GCCACCTGCCGCTTTTACCGT 0.522000 5 303 0 0 1 0 0 CCDC41 51134 broad.mit.edu 37 12 94761622 94761622 + Missense_Mutation SNP G G A rs111647062 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:94761622G>A ENST00000397809.5 - 11 1840 c.1291C>T c.(1291-1293)Cgg>Tgg p.R431W CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W|CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W NM_016122.2 NP_057206.2 Q9Y592 CCD41_HUMAN coiled-coil domain containing 41 423 breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 TGTGAAGCCCGCAATTTCTCT 0.373000 5 541 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 10 56 0.000219431 0.000230255 1 1 0 FAM71C 196472 broad.mit.edu 37 12 100042352 100042352 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:100042352G>A ENST00000324341.1 + 1 822 c.400G>A c.(400-402)Gta>Ata p.V134I ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 134 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) CCACAACAGCGTAAAAAAACA 0.483000 5 464 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135487991 135487991 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chrX:135487991G>A ENST00000394143.1 + 23 9086 c.8795G>A c.(8794-8796)cGg>cAg p.R2932Q GPR112_ENST00000287534.4_Missense_Mutation_p.R2685Q|GPR112_ENST00000394141.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000412101.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000370652.1_Missense_Mutation_p.R2932Q NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2932 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R2932Q(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AAGACTCGGCGGAAGATGATC 0.458000 5 683 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397298 125397298 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:125397298G>A ENST00000536769.1 - 1 2596 c.1020C>T c.(1018-1020)atC>atT p.I340I UBC_ENST00000339647.5_Silent_p.I340I|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.I264I P0CG48 UBC_HUMAN ubiquitin C 340 Ubiquitin-like 5. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.I340I(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GGTCAGGAGGGATGCCTTCCT 0.512000 7 828 0 0 1 0 0 DLG3 1741 broad.mit.edu 37 X 69672545 69672545 + Missense_Mutation SNP G G T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chrX:69672545G>T ENST00000374355.3 + 1 391 c.74G>T c.(73-75)aGg>aTg p.R25M DLG3_ENST00000374360.3_Intron|DLG3_ENST00000194900.4_Intron NM_020730.2 NP_065781.1 Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) 0 axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) TCGGCCTGGAGGAGGGCTTCG 0.697000 13 130 6.72482e-11 7.25165e-11 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72828136 72828136 + Missense_Mutation SNP G G T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr16:72828136G>T ENST00000268489.5 - 9 9117 c.8445C>A c.(8443-8445)agC>agA p.S2815R ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1901R NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2815 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ACATGGAGGGGCTTTCAAAGT 0.463000 7 413 0.00198382 0.00205404 1 1 0 PCDHA9 0 broad.mit.edu 37 5 140229343 140229343 + Nonsense_Mutation SNP C C A rs150560525 byFrequency TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr5:140229343C>A ENST00000378122.3 + 1 1987 c.1263C>A c.(1261-1263)taC>taA p.Y421* PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|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|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Nonsense_Mutation_p.Y421*|PCDHA1_ENST00000394633.3_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCCGCCTACGAGCTGGTGG 0.642000 199 570 4.56393e-95 5.18427e-95 1 1 0 ABHD8 79575 broad.mit.edu 37 19 17412239 17412239 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:17412239C>T ENST00000247706.3 - 2 426 c.187G>A c.(187-189)Gca>Aca p.A63T MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 63 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 TCCGAGGATGCGGATGATGGT 0.667000 4 207 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33501285 33501285 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:33501285C>T ENST00000268876.5 + 14 1958 c.1861C>T c.(1861-1863)Cgg>Tgg p.R621W UNC45B_ENST00000591048.1_Missense_Mutation_p.R540W|UNC45B_ENST00000433649.1_Missense_Mutation_p.R619W|UNC45B_ENST00000394570.2_Missense_Mutation_p.R619W|UNC45B_ENST00000378449.1_Missense_Mutation_p.R540W NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 621 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) TATAGACATGCGGGTGAAGCG 0.547000 6 690 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5720313 5720313 + Missense_Mutation SNP A A G TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr9:5720313A>G ENST00000414202.2 + 5 763 c.572A>G c.(571-573)cAg>cGg p.Q191R KIAA1432_ENST00000418622.3_Missense_Mutation_p.Q112R|KIAA1432_ENST00000449720.2_Missense_Mutation_p.Q112R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.Q191R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.Q112R NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 191 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GTAGACCTGCAGTCATCTAGA 0.388000 166 500 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29397624 29397624 + Missense_Mutation SNP G G T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr15:29397624G>T ENST00000558402.1 + 12 2166 c.1567G>T c.(1567-1569)Gcc>Tcc p.A523S APBA2_ENST00000561069.1_Missense_Mutation_p.A523S|APBA2_ENST00000558259.1_Missense_Mutation_p.A523S|APBA2_ENST00000558330.1_Missense_Mutation_p.A511S|APBA2_ENST00000411764.1_Missense_Mutation_p.A511S Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 523 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CTTCAGCGTGGCCTACCAGGA 0.612000 54 109 2.82306e-37 3.1457e-37 1 1 0 LMAN1L 79748 broad.mit.edu 37 15 75109005 75109005 + Silent SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr15:75109005C>T ENST00000309664.5 + 4 610 c.471C>T c.(469-471)gaC>gaT p.D157D LMAN1L_ENST00000379709.3_Silent_p.D157D NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 157 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGGCCAGCGACGGGCACATCC 0.677000 52 182 0 0 1 0 0 KIAA0355 9710 broad.mit.edu 37 19 34832943 34832943 + Missense_Mutation SNP G G T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:34832943G>T ENST00000299505.6 + 10 2977 c.2104G>T c.(2104-2106)Gca>Tca p.A702S NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 702 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) TCCACCACGGGCACCCCAGGC 0.612000 76 303 1.03218e-28 1.1393e-28 1 1 0 POTEC 388468 broad.mit.edu 37 18 14542996 14542996 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr18:14542996G>A ENST00000358970.5 - 1 149 c.150C>T c.(148-150)gaC>gaT p.D50D POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 50 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TAAAGGAGTCGTCGTGGTCTC 0.587000 6 713 0 0 1 0 0 MAS1L 116511 broad.mit.edu 37 6 29455344 29455344 + Silent SNP G G T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr6:29455344G>T ENST00000377127.3 - 1 394 c.336C>A c.(334-336)atC>atA p.I112I NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 112 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 CCAGGTGGAGGATGTATACCA 0.527000 64 188 2.165e-29 2.40099e-29 1 1 0 PCDHA10 0 broad.mit.edu 37 5 140235770 140235770 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr5:140235770G>A ENST00000307360.5 + 1 137 c.137G>A c.(136-138)cGc>cAc p.R46H PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|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|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R46H|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 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) TTCGTGGGCCGCATCGCGCAG 0.657000 5 608 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140282022 140282022 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr3:140282022G>A ENST00000458420.3 + 15 2649 c.2459G>A c.(2458-2460)cGg>cAg p.R820Q NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 820 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCTGAGTCCCGGAGTAGCATC 0.512000 HNSCC(16;0.037) 112 345 0 0 1 0 0 ZNF563 147837 broad.mit.edu 37 19 12429722 12429722 + Missense_Mutation SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:12429722T>C ENST00000293725.5 - 4 1322 c.1117A>G c.(1117-1119)Acg>Gcg p.T373A NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGAGATAACGTTTTCCCACAC 0.413000 5 644 0 0 1 0 0 FHL3 2275 broad.mit.edu 37 1 38463709 38463709 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:38463709G>A ENST00000373016.3 - 4 595 c.427C>T c.(427-429)Ccc>Tcc p.P143S FHL3_ENST00000485803.1_5'UTR NM_001243878.1|NM_004468.4 NP_001230807.1|NP_004459.2 Q13643 FHL3_HUMAN four and a half LIM domains 3 143 LIM zinc-binding 2. muscle organ development zinc ion binding p.P143S(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCCTTGTCGGGCACAAAAGAA 0.622000 5 525 0 0 1 0 0 TRIM37 4591 broad.mit.edu 37 17 57093004 57093004 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:57093004G>A ENST00000376149.3 - 21 2986 c.2177C>T c.(2176-2178)gCg>gTg p.A726V TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V|TRIM37_ENST00000262294.7_Missense_Mutation_p.A848V|TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V O94972 TRI37_HUMAN tripartite motif containing 37 848 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding p.A848V(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TTTCTCAACCGCAGGCAAGCC 0.398000 Mulibrey Nanism 5 704 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849840 73849840 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr8:73849840G>A ENST00000523207.1 + 3 2838 c.2250G>A c.(2248-2250)caG>caA p.Q750Q NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 750 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTACCCCGCAGCACATCAGTA 0.572000 7 875 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65226641 65226641 + RNA SNP G G T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr7:65226641G>T ENST00000442266.1 + 0 1167 AGGTTCTTGCGCAGAATTCTG 0.383000 4 75 2.56e-06 2.71059e-06 1 1 0 FAM129B 64855 broad.mit.edu 37 9 130271305 130271305 + Missense_Mutation SNP C C A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr9:130271305C>A ENST00000373312.3 - 10 1480 c.1267G>T c.(1267-1269)Gtg>Ttg p.V423L FAM129B_ENST00000373314.3_Missense_Mutation_p.V410L|FAM129B_ENST00000468379.1_Intron NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 423 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 GTGCTGGACACATCAAATCGC 0.622000 10 222 1.04858e-14 1.14124e-14 1 1 0 ZNF142 7701 broad.mit.edu 37 2 219507561 219507561 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:219507561G>A ENST00000411696.2 - 7 4457 c.3678C>T c.(3676-3678)ggC>ggT p.G1226G ZNF142_ENST00000449707.1_Silent_p.G1226G P52746 ZN142_HUMAN zinc finger protein 142 1226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGGGGATGCGGCCAATGCCTG 0.577000 6 702 0 0 1 0 0 MS4A1 931 broad.mit.edu 37 11 60235931 60235931 + Missense_Mutation SNP G G T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:60235931G>T ENST00000534668.1 + 7 1173 c.884G>T c.(883-885)aGc>aTc p.S295I MS4A1_ENST00000532073.1_Missense_Mutation_p.S282I|MS4A1_ENST00000389939.2_Missense_Mutation_p.S295I|MS4A1_ENST00000528313.1_Missense_Mutation_p.S128I|MS4A1_ENST00000345732.4_Missense_Mutation_p.S295I NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 295 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) GAAAATGACAGCTCTCCTTAA 0.373000 5 186 1 1 1 1 0 TRIM51 84767 broad.mit.edu 37 11 55653623 55653623 + Missense_Mutation SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:55653623T>C ENST00000449290.2 + 3 528 c.436T>C c.(436-438)Tct>Cct p.S146P TRIM51_ENST00000244891.3_Missense_Mutation_p.S3P NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 146 intracellular zinc ion binding AAAAATGCAGTCTTTATGGGA 0.418000 10 206 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625971 29625971 + Missense_Mutation SNP C C A rs145033899 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328000 5 451 0.00829132 0.008547 1 1 0 COL22A1 169044 broad.mit.edu 37 8 139838972 139838972 + Missense_Mutation SNP G G A rs138591562 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr8:139838972G>A ENST00000303045.6 - 6 1344 c.898C>T c.(898-900)Cgg>Tgg p.R300W COL22A1_ENST00000435777.1_Missense_Mutation_p.R300W NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 300 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTCCTGAACCGGAAGGTTGTG 0.517000 HNSCC(7;0.00092) 4 261 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 7 532 0 0 1 0 0 MRC1L1 0 broad.mit.edu 37 10 17949700 17949700 + Missense_Mutation SNP G G C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr10:17949700G>C ENST00000331429.2 + 28 4167 c.4064G>C c.(4063-4065)tGt>tCt p.C1355S breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GGATATATTTGTAAAAGACCA 0.373000 23 610 0 0 1 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114449702 114449702 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:114449702G>A ENST00000369563.3 + 2 720 c.274G>A c.(274-276)Gta>Ata p.V92I DCLRE1B_ENST00000466480.1_Intron NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 92 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GACCATGACCGTAACCCTCCT 0.468000 Other identified genes with known or suspected DNA repair function 6 455 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114304261 114304261 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr9:114304261G>A ENST00000309235.5 + 6 1204 c.1046G>A c.(1045-1047)cGc>cAc p.R349H ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 349 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R349H(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 GTTCTGAACCGCAAGGAGAAA 0.423000 6 541 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72992317 72992317 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr16:72992317G>A ENST00000268489.5 - 2 2400 c.1728C>T c.(1726-1728)ggC>ggT p.G576G ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 576 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TGGCCCTGACGCCCTCACTGT 0.502000 95 284 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16945409 16945409 + RNA SNP T T A rs13566 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:16945409T>A ENST00000412962.1 - 0 2110 GCGGGATAGCTCGGTGGAGAG 0.612000 27 208 0 0 1 0 0 MIR508 0 broad.mit.edu 37 X 146318508 146318508 + RNA SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chrX:146318508G>A ENST00000384857.1 - 0 37 NR_030235.1 CATGAGTGACGCCCTCTGGAG 0.428000 38 74 0 0 1 0 0 NOP16 51491 broad.mit.edu 37 5 175815524 175815524 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr5:175815524C>T ENST00000389158.5 - 1 452 c.17G>A c.(16-18)gGc>gAc p.G6D NOP16_ENST00000509257.1_Missense_Mutation_p.G6D|NOP16_ENST00000510123.1_Missense_Mutation_p.G6D|NOP16_ENST00000507413.1_Missense_Mutation_p.G6D Q9Y3C1 NOP16_HUMAN NOP16 nucleolar protein 6 nucleolus central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 8 CCGGGTTTTGCCCTTGGCCTT 0.602000 6 548 0 0 1 0 0 IGHV3OR16-9 0 broad.mit.edu 37 16 32077661 32077661 + RNA SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr16:32077661T>C ENST00000354689.6 + 0 276 RP11-1166P10.6_ENST00000566806.1_RNA AGGACACGGCTGTGTATTACT 0.552000 8 939 0 0 1 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197393 39197393 + Missense_Mutation SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:39197393T>C ENST00000306271.4 - 1 320 c.257A>G c.(256-258)tAc>tGc p.Y86C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 86 Missing (in allele KAP1.7). extracellular region|keratin filament p.Y86C(4) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTGGTCTGGTAGCAGCTTGG 0.587000 6 372 0 0 1 0 0 AGPAT1 10554 broad.mit.edu 37 6 32139088 32139088 + Translation_Start_Site SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr6:32139088G>A ENST00000412465.2 - 0 440 AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000395496.1_Silent_p.N62N|AGPAT1_ENST00000395499.1_Silent_p.N62N|AGPAT1_ENST00000336984.6_Silent_p.N62N|AGPAT1_ENST00000375104.2_Silent_p.N62N|AGPAT1_ENST00000375107.3_Silent_p.N62N|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395497.1_Silent_p.N62N Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2) 12 TGTTCTCGACGTTGCGTCCTC 0.562000 6 588 0 0 1 0 0 TNRC6C 57690 broad.mit.edu 37 17 76046827 76046827 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:76046827G>A ENST00000335749.4 + 3 2253 c.1684G>A c.(1684-1686)Gca>Aca p.A562T TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A562T NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 562 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GAGTGGGGCCGCAAATCAGGA 0.582000 5 429 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117061456 117061456 + Missense_Mutation SNP G G C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr10:117061456G>C ENST00000355044.3 + 17 2847 c.2721G>C c.(2719-2721)atG>atC p.M907I ATRNL1_ENST00000423111.2_Missense_Mutation_p.M4I NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 907 PSI 4. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TGGAGTGTATGTGGTGCAGCA 0.453000 67 188 0 0 1 0 0 PBXIP1 57326 broad.mit.edu 37 1 154918319 154918319 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:154918319G>A ENST00000368463.3 - 10 1902 c.1831C>T c.(1831-1833)Cgg>Tgg p.R611W PBXIP1_ENST00000539880.1_Missense_Mutation_p.R438W|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R582W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R456W NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 611 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCCTGTTGCCGCACTGGGGCT 0.627000 5 430 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390463 45390463 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr6:45390463G>A ENST00000371438.1 + 2 550 c.192G>A c.(190-192)caG>caA p.Q64Q RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 64 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcagcaacagcagc 0.736000 4 158 0 0 1 0 0 LNX2 0 broad.mit.edu 37 13 28136823 28136823 + Missense_Mutation SNP C C G TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr13:28136823C>G ENST00000316334.3 - 5 1080 c.951G>C c.(949-951)gaG>gaC p.E317D NM_153371.3 NP_699202.1 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 317 PDZ 1. zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) CAAAGCGCCTCTCTCGAAGCA 0.488000 76 277 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150528719 150528719 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:150528719C>T ENST00000271643.4 + 9 1689 c.1453C>T c.(1453-1455)Cgc>Tgc p.R485C ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R485C|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R485C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R508C NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 485 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TTCTACCTGTCGCCTTGTTTC 0.612000 154 567 0 0 1 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72954797 72954797 + Missense_Mutation SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr15:72954797T>C ENST00000421285.3 + 11 1052 c.1052T>C c.(1051-1053)gTg>gCg p.V351A NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 351 p.V351A(4) NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 GAGCAGGAGGTGCAGAGAGTG 0.562000 6 524 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 5 49 0.014758 0.0151464 1 1 0 PPEF2 5470 broad.mit.edu 37 4 76811270 76811270 + Missense_Mutation SNP C C T rs112682717 byFrequency TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr4:76811270C>T ENST00000286719.7 - 5 613 c.257G>A c.(256-258)cGc>cAc p.R86H NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 86 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity p.R86H(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) AGTGAATATGCGGGTCAGGAA 0.507000 6 317 0 0 1 0 0 FOXJ1 2302 broad.mit.edu 37 17 74136135 74136135 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:74136135G>A ENST00000322957.6 - 2 696 c.342C>T c.(340-342)taC>taT p.Y114Y NM_001454.3 NP_001445.2 Q92949 FOXJ1_HUMAN forkhead box J1 114 actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|liver(1)|pancreas(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(166;0.187) GATTGGTGGCGTAGTCCACGT 0.692000 59 159 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 236660 236660 + Silent SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr5:236660C>T ENST00000264932.6 + 10 1493 c.1378C>T c.(1378-1380)Ctg>Ttg p.L460L SDHA_ENST00000504309.1_Silent_p.L460L|SDHA_ENST00000510361.1_Silent_p.L412L NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 460 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) GCTCTTGGACCTGGTTGTCTT 0.597000 Familial Paragangliomas 5 417 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751462 19751462 + Missense_Mutation SNP G G T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr13:19751462G>T ENST00000400113.3 - 4 765 c.661C>A c.(661-663)Cgt>Agt p.R221S NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 221 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TACGTGGGACGCTCGATGTCC 0.562000 7 774 0.00198382 0.00205404 1 1 0 TNS1 7145 broad.mit.edu 37 2 218683151 218683151 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:218683151G>A ENST00000171887.4 - 24 4044 c.3592C>T c.(3592-3594)Cgg>Tgg p.R1198W TNS1_ENST00000430930.1_Missense_Mutation_p.R1177W|TNS1_ENST00000419504.1_Missense_Mutation_p.R1185W NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1198 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TTGATGGCCCGCCAGCCGAAG 0.632000 6 521 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817028 129817028 + RNA SNP G G C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr3:129817028G>C ENST00000507643.1 + 0 647 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups ACCTGGGATGGGGTGGGGACA 0.542000 6 141 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179425623 179425623 + Missense_Mutation SNP A A C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:179425623A>C ENST00000589042.1 - 326 85460 c.85236T>G c.(85234-85236)caT>caG p.H28412Q TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H19472Q|TTN_ENST00000591111.1_Missense_Mutation_p.H26771Q|TTN_ENST00000342175.6_Missense_Mutation_p.H19539Q|TTN_ENST00000342992.6_Missense_Mutation_p.H25844Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H19347Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26771 Fibronectin type-III 107. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAACAAAGTATGATTGTCTG 0.433000 7 186 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228480445 228480445 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:228480445G>A ENST00000570156.2 + 45 12186 c.12112G>A c.(12112-12114)Gtg>Atg p.V4038M OBSCN_ENST00000366709.4_Missense_Mutation_p.V728M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V3609M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V3609M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V728M|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2456M NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3079 Ig-like 41. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTACTCGTGCGTGTGCGGGCA 0.577000 139 458 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79051843 79051843 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr15:79051843G>A ENST00000388820.4 - 24 5191 c.4981C>T c.(4981-4983)Cgc>Tgc p.R1661C NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1661 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CACTGGGTGCGGATGGTGGGC 0.726000 7 76 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123181288 123181288 + Missense_Mutation SNP A A C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chrX:123181288A>C ENST00000371160.1 + 9 1042 c.752A>C c.(751-753)gAa>gCa p.E251A STAG2_ENST00000354548.5_Missense_Mutation_p.E182A|STAG2_ENST00000218089.9_Missense_Mutation_p.E251A|STAG2_ENST00000371144.3_Missense_Mutation_p.E251A|STAG2_ENST00000371145.3_Missense_Mutation_p.E251A|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.E251A Q8N3U4 STAG2_HUMAN stromal antigen 2 251 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TATGAAGCAGAACGGAATAAA 0.338000 19 372 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119132851 119132851 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr3:119132851C>T ENST00000264245.4 + 12 2607 c.2075C>T c.(2074-2076)cCc>cTc p.P692L NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 692 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 AGTCTGGGGCCCTTTATTCCC 0.562000 178 622 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139266690 139266690 + Missense_Mutation SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr6:139266690T>C ENST00000450536.2 - 3 996 c.422A>G c.(421-423)aAg>aGg p.K141R REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 141 coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TACGGATCCCTTTTTCACTTG 0.478000 6 763 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280087 39280087 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:39280087G>A ENST00000394014.1 - 1 332 c.288C>T c.(286-288)tgC>tgT p.C96C NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 96 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament p.C96C(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGGTGGGCTGGCAGCACACAG 0.667000 6 583 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148855953 148855953 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr6:148855953G>A ENST00000367467.3 + 16 2486 c.2011G>A c.(2011-2013)Gaa>Aaa p.E671K NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 671 SAM 1. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GCTGGAGGAGGAAGACTTGGA 0.478000 5 463 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27751992 27751992 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr16:27751992G>A ENST00000261588.4 + 15 2393 c.2374G>A c.(2374-2376)Gat>Aat p.D792N NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 792 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CCCATCAGACGATGTCATCGG 0.632000 5 444 0 0 1 0 0 NR1H3 10062 broad.mit.edu 37 11 47281348 47281348 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:47281348C>T ENST00000467728.1 + 2 1288 c.50C>T c.(49-51)gCg>gTg p.A17V NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.A17V|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.A17V|NR1H3_ENST00000405853.3_Missense_Mutation_p.A17V|NR1H3_ENST00000481889.2_5'UTR Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 17 apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 TCAGACTCTGCGGTGGAGCTG 0.632000 OREG0020956 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 333 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 7 440 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 268 0 0 1 0 0 CGREF1 10669 broad.mit.edu 37 2 27324320 27324320 + Missense_Mutation SNP C C T rs111421729 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:27324320C>T ENST00000402394.1 - 6 1047 c.779G>A c.(778-780)gGg>gAg p.G260E CGREF1_ENST00000312734.4_Missense_Mutation_p.G260E|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.G382E|CGREF1_ENST00000405600.1_Missense_Mutation_p.G260E NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 258 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCCTGGCCCCCAGCTTCCCC 0.692000 9 573 0 0 1 0 0 HSPB9 94086 broad.mit.edu 37 17 40275109 40275109 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:40275109G>A ENST00000355067.3 + 1 354 c.241G>A c.(241-243)Gga>Aga p.G81R CTD-2132N18.3_ENST00000592574.1_Intron NM_033194.2 NP_149971.1 Q9BQS6 HSPB9_HUMAN heat shock protein, alpha-crystallin-related, B9 81 response to stress cytoplasm|nucleus protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 4 all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866) BRCA - Breast invasive adenocarcinoma(366;0.124) GATGGTGACCGGACAGCAGCA 0.597000 6 534 0 0 1 0 0 RBMS2 5939 broad.mit.edu 37 12 56956368 56956368 + Splice_Site SNP G G A rs140037879 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:56956368G>A ENST00000262031.5 + 2 328 c.e2+1 RBMS2_ENST00000552247.2_Splice_Site|RBMS2_ENST00000550726.1_Intron|RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000549945.1_Splice_Site NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 RNA processing nucleus nucleotide binding|RNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 TGTGTCAGCCGTAAGTTGGAG 0.488000 5 474 0 0 1 0 0 CA6 765 broad.mit.edu 37 1 9011554 9011554 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:9011554G>A ENST00000319474.2 + 3 356 c.332G>A c.(331-333)aGg>aAg p.R111K CA6_ENST00000377442.2_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377443.2_Intron P23280 CAH6_HUMAN carbonic anhydrase VI 109 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) AAAGGCCAAAGGCAGTGGCTT 0.552000 27 134 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 8 735 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3954855 3954855 + RNA SNP G G T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr4:3954855G>T ENST00000281228.8 - 0 143 FAM86EP_ENST00000313946.8_RNA AAAATATCCCGCCGCAGCTCA 0.493000 7 342 6.31663e-08 6.71859e-08 1 1 0 PIK3CG 5294 broad.mit.edu 37 7 106508903 106508903 + Silent SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr7:106508903C>T ENST00000359195.3 + 2 1207 c.897C>T c.(895-897)aaC>aaT p.N299N PIK3CG_ENST00000440650.2_Silent_p.N299N|PIK3CG_ENST00000496166.1_Silent_p.N299N NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 299 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding p.N299N(1) breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GCCTCAAGAACGGAGAAGAGA 0.587000 55 196 0 0 1 0 0 KCNJ11 3767 broad.mit.edu 37 11 17408690 17408690 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:17408690G>A ENST00000339994.4 - 1 1516 c.949C>T c.(949-951)Ccc>Tcc p.P317S KCNJ11_ENST00000528731.1_Missense_Mutation_p.P230S NM_000525.3 NP_000516.3 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 11 230 integral to membrane ATP-activated inward rectifier potassium channel activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) GCTACAATGGGCACAAAGCGC 0.607000 OREG0020810 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 496 0 0 1 0 0 GSK3A 2931 broad.mit.edu 37 19 42740804 42740804 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:42740804C>T ENST00000398249.4 - 3 2087 c.374G>A c.(373-375)cGc>cAc p.R125H GSK3A_ENST00000222330.3_Missense_Mutation_p.R207H|AC006486.9_ENST00000594664.1_Missense_Mutation_p.R120H P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 207 Protein kinase. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 19 Prostate(69;0.00682) GGTGAAGTGGCGGGCCACCCG 0.582000 6 499 0 0 1 0 0 SPATA13 221178 broad.mit.edu 37 13 24860488 24860488 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr13:24860488G>A ENST00000424834.2 + 8 2911 c.2438G>A c.(2437-2439)cGc>cAc p.R813H SPATA13_ENST00000343003.6_Missense_Mutation_p.R132H|SPATA13_ENST00000409126.1_Missense_Mutation_p.R110H|SPATA13_ENST00000382095.4_Missense_Mutation_p.R188H|SPATA13_ENST00000399949.2_Missense_Mutation_p.R110H|SPATA13_ENST00000382108.3_Missense_Mutation_p.R813H Q96N96 SPT13_HUMAN spermatogenesis associated 13 188 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) TGGTGGGGCCGCAGTGAAGAT 0.572000 4 254 0 0 1 0 0 AGPAT5 55326 broad.mit.edu 37 8 6588234 6588234 + Missense_Mutation SNP G G T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr8:6588234G>T ENST00000285518.6 + 3 604 c.292G>T c.(292-294)Gac>Tac p.D98Y NM_018361.3 NP_060831.2 Q9NUQ2 PLCE_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 5 98 phospholipid biosynthetic process integral to membrane|mitochondrion 1-acylglycerol-3-phosphate O-acyltransferase activity AGPAT5/MCPH1(2) endometrium(2)|kidney(2)|large_intestine(4)|lung(3) 11 STAD - Stomach adenocarcinoma(24;0.0578) READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191) CTCTGCAGTTGACTGGATTGT 0.517000 4 192 1 1 1 1 0 TSSK6 83983 broad.mit.edu 37 19 19626190 19626190 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:19626190C>T ENST00000360913.3 - 1 648 c.47G>A c.(46-48)cGc>cAc p.R16H TSSK6_ENST00000585580.3_Missense_Mutation_p.R16H Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 16 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 TCCAATTGTGCGGCCCAGCTT 0.652000 5 437 0 0 1 0 0 PRELP 5549 broad.mit.edu 37 1 203452587 203452587 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:203452587G>A ENST00000343110.2 + 2 402 c.275G>A c.(274-276)cGc>cAc p.R92H NM_002725.3|NM_201348.1 NP_002716.1|NP_958505.1 P51888 PRELP_HUMAN proline/arginine-rich end leucine-rich repeat protein 92 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 BRCA - Breast invasive adenocarcinoma(75;0.109) TGTGATAGCCGCAACCTGCGA 0.587000 6 579 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179464373 179464373 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:179464373G>A ENST00000589042.1 - 289 56479 c.56255C>T c.(56254-56256)cCg>cTg p.P18752L TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9812L|TTN_ENST00000591111.1_Missense_Mutation_p.P17111L|TTN_ENST00000342175.6_Missense_Mutation_p.P9879L|TTN_ENST00000342992.6_Missense_Mutation_p.P16184L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P9687L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17111 Fibronectin type-III 36. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCGAGACTGCGGAATAACTAA 0.428000 5 653 0 0 1 0 0 PSMA1 5682 broad.mit.edu 37 11 14536026 14536026 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:14536026C>T ENST00000530457.1 - 5 721 c.191G>A c.(190-192)cGt>cAt p.R64H PSMA1_ENST00000555531.1_Missense_Mutation_p.R89H|PSMA1_ENST00000418988.2_Missense_Mutation_p.R95H|PSMA1_ENST00000396394.2_Missense_Mutation_p.R89H|PSMA1_ENST00000396393.1_Missense_Mutation_p.R89H|PSMA1_ENST00000419365.2_Missense_Mutation_p.R89H P25786 PSA1_HUMAN proteasome (prosome, macropain) subunit, alpha type, 1 89 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 ACACTCCTGACGCATAAAATT 0.308000 12 111 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155149492 155149492 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:155149492C>T ENST00000392451.2 + 4 837 c.754C>T c.(754-756)Cgg>Tgg p.R252W TRIM46_ENST00000545012.1_Missense_Mutation_p.R126W|TRIM46_ENST00000543729.1_Missense_Mutation_p.R259W|TRIM46_ENST00000368385.4_Missense_Mutation_p.R252W|TRIM46_ENST00000368382.1_Missense_Mutation_p.R229W|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.R252W|TRIM46_ENST00000334634.4_Missense_Mutation_p.R252W Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 252 intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTGCCGGGTGCGGCGCACCCA 0.572000 OREG0013855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 551 0 0 1 0 0 POLK 51426 broad.mit.edu 37 5 74886218 74886218 + Missense_Mutation SNP G G C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr5:74886218G>C ENST00000241436.4 + 11 1481 c.1309G>C c.(1309-1311)Gaa>Caa p.E437Q POLK_ENST00000504026.1_Missense_Mutation_p.E437Q|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Intron|POLK_ENST00000352007.5_Intron|POLK_ENST00000515295.1_Missense_Mutation_p.E437Q|POLK_ENST00000380481.3_Missense_Mutation_p.E347Q NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 437 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) CCTATGTCAAGAACTTTGCAG 0.338000 DNA polymerases (catalytic subunits) 23 385 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12371650 12371650 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:12371650C>T ENST00000358136.3 + 28 6920 c.6790C>T c.(6790-6792)Cgg>Tgg p.R2264W VPS13D_ENST00000356315.4_Missense_Mutation_p.R2264W NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2264 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGAATTTATGCGGCCTTATGA 0.438000 6 606 0 0 1 0 0 SPATA31C1 0 broad.mit.edu 37 9 90535640 90535640 + RNA SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr9:90535640C>T ENST00000602681.1 + 0 1544 GAGGATTTGGCGGCTTCTGTC 0.562000 6 674 0 0 1 0 0 POU2F1 5451 broad.mit.edu 37 1 167384904 167384904 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:167384904G>A ENST00000367862.5 + 16 2360 c.2125G>A c.(2125-2127)Gca>Aca p.A709T POU2F1_ENST00000541643.3_Missense_Mutation_p.A697T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.A720T|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000429375.2_Missense_Mutation_p.A657T NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 697 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 CTCTGCCGCCGCAGCATCTGC 0.602000 6 954 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 8 510 0 0 1 0 0 KLK13 26085 broad.mit.edu 37 19 51561829 51561829 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:51561829G>A ENST00000595793.1 - 4 653 c.611C>T c.(610-612)gCc>gTc p.A204V KLK13_ENST00000595547.1_Missense_Mutation_p.A131V|KLK13_ENST00000335422.3_Missense_Mutation_p.A52V NM_015596.1 NP_056411.1 Q9UKR3 KLK13_HUMAN kallikrein-related peptidase 13 204 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) TTTTGTGCCGGCACACAACAT 0.512000 8 870 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130222630 130222630 + Silent SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chrX:130222630C>T ENST00000276211.5 + 12 1860 c.1515C>T c.(1513-1515)tcC>tcT p.S505S ARHGAP36_ENST00000370921.1_Silent_p.S369S|ARHGAP36_ENST00000370922.1_Silent_p.S493S NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 505 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 CTGTGCCTTCCGGCACTGCCC 0.542000 42 120 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18929061 18929061 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chrX:18929061G>A ENST00000379942.4 - 20 2820 c.2155C>T c.(2155-2157)Ccg>Tcg p.P719S NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 719 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) ACTTTAGTCGGCAAAGTCATG 0.363000 5 426 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:23544867T>C ENST00000300619.7 - 4 1119 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 305 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413000 7 391 0 0 1 0 0 ENTPD2 954 broad.mit.edu 37 9 139944405 139944405 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr9:139944405G>A ENST00000355097.2 - 7 1113 c.1066C>T c.(1066-1068)Cgg>Tgg p.R356W ENTPD2_ENST00000312665.5_Missense_Mutation_p.R356W NM_001246.3|NM_203468.2 NP_001237.1|NP_982293.1 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 356 integral to membrane ATP binding endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3) 12 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ATCGAAGTCCGCAAAAAGTCC 0.647000 OREG0019627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 369 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57353857 57353857 + Missense_Mutation SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr8:57353857T>C ENST00000314922.3 - 2 854 c.778A>G c.(778-780)Aga>Gga p.R260G PENK_ENST00000451791.2_Missense_Mutation_p.R260G NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 260 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CCTCCGTATCTTTTTTCCATT 0.498000 5 620 0 0 1 0 0 IL36G 56300 broad.mit.edu 37 2 113742456 113742456 + Missense_Mutation SNP G G A rs149685371 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:113742456G>A ENST00000259205.4 + 5 409 c.340G>A c.(340-342)Gtg>Atg p.V114M IL36G_ENST00000376489.2_Missense_Mutation_p.V79M NM_019618.2 NP_062564.1 Q9NZH8 IL36G_HUMAN interleukin 36, gamma 114 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 ACCCGAGCCCGTGAAACCCTT 0.502000 5 547 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138738203 138738203 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr7:138738203C>T ENST00000242351.5 - 12 2759 c.2443G>A c.(2443-2445)Gga>Aga p.G815R ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.G937R NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 815 PARP catalytic. response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 TAACCTTTTCCGTATTTGTTT 0.363000 11 413 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994960 140994960 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chrX:140994960G>A ENST00000285879.4 + 4 2056 c.1770G>A c.(1768-1770)ctG>ctA p.L590L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 590 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGGACTCCCTGTCTCCTCACT 0.567000 HNSCC(15;0.026) 14 1948 0 0 1 0 0 MEN1 0 broad.mit.edu 37 11 64577300 64577300 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:64577300G>A ENST00000337652.1 - 2 785 c.282C>T c.(280-282)acC>acT p.T94T MEN1_ENST00000377313.1_Silent_p.T94T|MEN1_ENST00000377321.1_Silent_p.T94T|MEN1_ENST00000377326.3_Silent_p.T94T|MEN1_ENST00000394374.2_Silent_p.T94T|MEN1_ENST00000394376.1_Silent_p.T94T|MEN1_ENST00000312049.6_Silent_p.T94T|MEN1_ENST00000315422.4_Silent_p.T94T|MEN1_ENST00000377316.2_Silent_p.T94T|MEN1_ENST00000443283.1_Silent_p.T94T NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 94 Missing (in MEN1). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.A95fs*24(1) NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 GGATCTGGGCGGTGAAGCGGG 0.647000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 4 154 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807460 20807460 + Missense_Mutation SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:20807460T>C ENST00000601440.1 - 4 1369 c.1223A>G c.(1222-1224)tAc>tGc p.Y408C CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y408C(1) breast(1)|endometrium(1)|lung(3)|skin(1) 6 GTTAGAGGAGTACTTAAAAGC 0.408000 6 330 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45623197 45623197 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr14:45623197G>A ENST00000267430.5 + 6 1210 c.1125G>A c.(1123-1125)caG>caA p.Q375Q FANCM_ENST00000556036.1_Silent_p.Q375Q|FANCM_ENST00000542564.2_Silent_p.Q349Q NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 375 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AATTATTGCAGCAAATGGGAA 0.284000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 5 462 0 0 1 0 0 NUP88 4927 broad.mit.edu 37 17 5322895 5322895 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:5322895G>A ENST00000573584.1 - 1 585 c.76C>T c.(76-78)Cgg>Tgg p.R26W NM_002532.4 NP_002523.2 Q99567 NUP88_HUMAN nucleoporin 88kDa 26 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity endometrium(4)|kidney(4)|large_intestine(4)|lung(3) 15 TCCCGGAGCCGCAAGAACACG 0.632000 5 346 0 0 1 0 0 EDF1 8721 broad.mit.edu 37 9 139756786 139756786 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr9:139756786G>A ENST00000224073.1 - 5 424 c.397C>T c.(397-399)Cgg>Tgg p.R133W EDF1_ENST00000371649.1_3'UTR NM_003792.2 NP_003783.1 O60869 EDF1_HUMAN endothelial differentiation-related factor 1 133 HTH cro/C1-type. endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent cytoplasm|nucleolus|nucleus calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity lung(1) 1 all_cancers(76;0.0841)|all_epithelial(76;0.217) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TCCTTTCCCCGGAGCTTGAGG 0.597000 6 722 0 0 1 0 0 VSNL1 7447 broad.mit.edu 37 2 17830679 17830679 + Missense_Mutation SNP C C A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:17830679C>A ENST00000406397.1 + 3 690 c.165C>A c.(163-165)ttC>ttA p.F55L VSNL1_ENST00000404666.2_Missense_Mutation_p.F55L|VSNL1_ENST00000295156.4_Missense_Mutation_p.F55L P62760 VISL1_HUMAN visinin-like 1 55 EF-hand 1. calcium ion binding NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTTTGCAGTTCTTTCCTTATG 0.572000 55 386 3.21867e-24 3.53601e-24 1 1 0 GOLGA3 2802 broad.mit.edu 37 12 133353241 133353241 + Silent SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:133353241T>C ENST00000204726.3 - 21 4515 c.3957A>G c.(3955-3957)gaA>gaG p.E1319E GOLGA3_ENST00000450791.2_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1319 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTGTAGCCCTTCCAGTTCCT 0.587000 8 414 0 0 1 0 0 MARS2 92935 broad.mit.edu 37 2 198570923 198570923 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:198570923G>A ENST00000282276.6 + 1 837 c.794G>A c.(793-795)gGc>gAc p.G265D AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 265 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) TTGCACTGGGGCATTCCGGTG 0.552000 5 402 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643141 37643141 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:37643141C>T ENST00000356958.4 - 5 1918 c.1660G>A c.(1660-1662)Gaa>Aaa p.E554K ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E499K|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E499K Q6P3V2 Z585A_HUMAN zinc finger protein 585A 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.E499K(1) breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCCCACATTCGTGGCATTCA 0.403000 84 245 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685938 125685938 + Silent SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chrX:125685938C>T ENST00000371126.1 - 1 896 c.654G>A c.(652-654)gcG>gcA p.A218A NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 218 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 TCCGCCACAGCGCCACAGTGC 0.652000 82 210 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119145571 119145571 + Missense_Mutation SNP C C A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:119145571C>A ENST00000264033.4 + 5 1153 c.777C>A c.(775-777)aaC>aaA p.N259K NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 259 Cbl-PTB.|SH2-like. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) GGAATTGGAACAGCCTTGCTG 0.448000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 6 388 4.096e-09 4.39662e-09 1 1 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 6 317 0 0 1 0 0 SLC35D1 23169 broad.mit.edu 37 1 67487220 67487220 + Missense_Mutation SNP C C A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:67487220C>A ENST00000235345.5 - 9 880 c.795G>T c.(793-795)atG>atT p.M265I SLC35D1_ENST00000506472.2_Missense_Mutation_p.M186I NM_015139.2 NP_055954.1 Q9NTN3 S35D1_HUMAN solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 265 chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process integral to endoplasmic reticulum membrane UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(3)|lung(4) 10 Lorazepam(DB00186) AGGCTTACCCCATCACACAGG 0.423000 5 384 1 1 1 1 0 CYP11B2 1585 broad.mit.edu 37 8 143994080 143994080 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr8:143994080G>A ENST00000323110.2 - 8 1266 c.1264C>T c.(1264-1266)Cgg>Tgg p.R422W NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 422 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GGATTATACCGCTCAGGCCTC 0.622000 Familial Hyperaldosteronism type I 6 474 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50963351 50963351 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:50963351C>T ENST00000357701.5 + 24 2897 c.2846C>T c.(2845-2847)gCg>gTg p.A949V NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 949 Fibronectin type-III 3. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GGCACGAACGCGCTGGTGGAG 0.537000 5 25 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72955964 72955964 + Missense_Mutation SNP A A C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:72955964A>C ENST00000261180.4 + 8 1769 c.1673A>C c.(1672-1674)aAg>aCg p.K558T TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 558 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ACCATTCATAAGTATGGTAAT 0.269000 11 162 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513734 14513734 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr18:14513734C>T ENST00000358970.5 - 10 1459 c.1460G>A c.(1459-1461)gGa>gAa p.G487E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 487 p.G487E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTGTGATATTCCAGTGTTCTG 0.323000 4 171 0 0 1 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 8 289 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 10 362 0 0 1 0 0 PARP9 83666 broad.mit.edu 37 3 122274267 122274267 + Missense_Mutation SNP C C A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr3:122274267C>A ENST00000462315.1 - 4 1044 c.751G>T c.(751-753)Gct>Tct p.A251S PARP9_ENST00000471785.1_Missense_Mutation_p.A251S|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000360356.2_Missense_Mutation_p.A286S|PARP9_ENST00000477522.2_Missense_Mutation_p.A251S NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 286 Macro 1. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) TTAAAGGCAGCAACAGTAGGG 0.448000 182 540 2.27665e-64 2.57361e-64 1 1 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 4 160 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 12 196 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50140605 50140605 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr20:50140605C>T ENST00000371564.3 - 2 394 c.175G>A c.(175-177)Gca>Aca p.A59T NFATC2_ENST00000396009.3_Missense_Mutation_p.A59T|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 59 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity p.A59T(2) EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TCGGGGTATGCGGGTCCGGAG 0.592000 5 525 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88767456 88767456 + RNA SNP C C A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr10:88767456C>A ENST00000444431.1 + 0 2704 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CAGTTATACTCATTTGCGGTA 0.318000 5 520 1 1 1 1 0 POLQ 10721 broad.mit.edu 37 3 121192310 121192310 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr3:121192310G>A ENST00000264233.5 - 21 6558 c.6430C>T c.(6430-6432)Ccc>Tcc p.P2144S NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 2144 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CTATTTGGGGGCAACTTCAAT 0.368000 DNA polymerases (catalytic subunits) 7 875 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 9 763 0 0 1 0 0 ZC3H6 376940 broad.mit.edu 37 2 113089550 113089550 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:113089550G>A ENST00000409871.1 + 12 3456 c.3055G>A c.(3055-3057)Ggg>Agg p.G1019R ZC3H6_ENST00000343936.4_Missense_Mutation_p.G1019R NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 1019 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 TTCTGGTTCCGGGGCTCTGCC 0.507000 40 147 0 0 1 0 0 LRRC27 80313 broad.mit.edu 37 10 134165159 134165159 + Missense_Mutation SNP G G A rs147065829 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr10:134165159G>A ENST00000392638.2 + 8 1265 c.1070G>A c.(1069-1071)cGt>cAt p.R357H LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368615.3_Silent_p.P325P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000368614.3_Silent_p.P325P Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 0 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) TCTTGTCACCGTACCAAATGG 0.527000 7 859 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161799 90161799 + RNA SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr16:90161799G>A ENST00000567960.1 + 0 535 TUBB8P7_ENST00000564451.1_RNA GTCAGACACGGTGGTGGAGCC 0.498000 7 537 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10363351 10363351 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:10363351C>T ENST00000255381.2 - 14 1444 c.1334G>A c.(1333-1335)cGc>cAc p.R445H CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 445 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTGGTTGATGCGGGTGACCAT 0.478000 5 537 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26213152 26213152 + Missense_Mutation SNP G G C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chrX:26213152G>C ENST00000379034.1 + 2 1338 c.1189G>C c.(1189-1191)Gat>Cat p.D397H NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 397 breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CGCTTTGATAGATGAGGTAGA 0.502000 184 365 0 0 1 0 0 ZNF546 339327 broad.mit.edu 37 19 40520557 40520557 + Silent SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:40520557T>C ENST00000347077.4 + 7 1596 c.1380T>C c.(1378-1380)caT>caC p.H460H ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.H434H NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CTCGGCATCATAGAACTCATA 0.413000 96 254 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49485993 49485993 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:49485993G>A ENST00000323798.3 - 6 1121 c.925C>T c.(925-927)Cgg>Tgg p.R309W GYS1_ENST00000263276.6_Missense_Mutation_p.R245W|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W|GYS1_ENST00000540532.1_Intron NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 309 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) AAATGGCCCCGCACAAACTCC 0.542000 5 621 0 0 1 0 0 SFTPC 6440 broad.mit.edu 37 8 22019355 22019355 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr8:22019355G>A ENST00000521315.1 + 1 46 c.14G>A c.(13-15)aGc>aAc p.S5N SFTPC_ENST00000437090.2_Missense_Mutation_p.S5N|SFTPC_ENST00000522109.1_Missense_Mutation_p.S5N|SFTPC_ENST00000318561.3_Missense_Mutation_p.S5N|SFTPC_ENST00000524255.1_Missense_Mutation_p.S5N|SFTPC_ENST00000520605.1_Missense_Mutation_p.S5N P11686 PSPC_HUMAN surfactant protein C 5 respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GATGTGGGCAGCAAAGAGGTC 0.582000 5 449 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42695426 42695426 + Silent SNP A A T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr20:42695426A>T ENST00000358131.5 + 7 1567 c.1359A>T c.(1357-1359)ccA>ccT p.P453P TOX2_ENST00000435864.2_Silent_p.P349P|TOX2_ENST00000341197.3_Silent_p.P471P|TOX2_ENST00000372999.1_Silent_p.P429P|TOX2_ENST00000423191.1_Silent_p.P429P NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 453 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CACCTGGCCCATCCAACCCCA 0.627000 28 671 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:132547141G>A ENST00000333577.4 + 48 8446 c.8337G>A c.(8335-8337)caG>caA p.Q2779Q EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q Q96L91 EP400_HUMAN E1A binding protein p400 2779 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2742Q(2) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacagcagcagcagc 0.597000 6 313 0 0 1 0 0 NANOG 79923 broad.mit.edu 37 12 7945647 7945647 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:7945647G>A ENST00000229307.4 + 2 472 c.253G>A c.(253-255)Gca>Aca p.A85T NANOG_ENST00000526286.1_Missense_Mutation_p.A85T NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 85 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) GAAGAGTGTCGCAAAAAAGGA 0.478000 6 415 0 0 1 0 0 NCAPH 23397 broad.mit.edu 37 2 97033078 97033078 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:97033078G>A ENST00000455200.1 + 15 2227 c.1932G>A c.(1930-1932)ctG>ctA p.L644L NCAPH_ENST00000427946.1_Silent_p.L519L|NCAPH_ENST00000240423.4_Silent_p.L655L Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 655 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) GGAGTCTGCTGACAGCGCTCT 0.478000 16 327 0 0 1 0 0 TEX12 56158 broad.mit.edu 37 11 112040055 112040055 + Splice_Site SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:112040055G>A ENST00000280358.4 + 2 195 c.e2+1 SDHD_ENST00000532699.1_Intron|RP11-356J5.4_ENST00000527589.1_RNA|TEX12_ENST00000530752.1_Splice_Site NM_031275.4 NP_112565.1 Q9BXU0 TEX12_HUMAN testis expressed 12 endometrium(1)|large_intestine(2)|lung(1) 4 all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512) AGAATTGGAGGTAAGCTGTAT 0.373000 5 333 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135390519 135390519 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr5:135390519G>A ENST00000442011.2 + 10 1540 c.1379G>A c.(1378-1380)gGc>gAc p.G460D TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 460 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding p.G460D(1) breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACTCTGGGCGGCAAAAAACTG 0.423000 6 917 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31500513 31500513 + Missense_Mutation SNP G G C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr16:31500513G>C ENST00000330498.3 + 12 1538 c.1519G>C c.(1519-1521)Ggc>Cgc p.G507R NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 507 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GTTCTCCTTCGGCTCGGGCAG 0.637000 102 243 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21706481 21706481 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr3:21706481C>T ENST00000281523.2 - 2 580 c.62G>A c.(61-63)cGt>cAt p.R21H ZNF385D_ENST00000494118.1_Intron NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 21 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GGCTGGTGGACGGACAAGGGC 0.517000 50 158 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371685 109371685 + Missense_Mutation SNP A A T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:109371685A>T ENST00000283195.6 + 17 2562 c.2436A>T c.(2434-2436)aaA>aaT p.K812N NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 812 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTTTACTGAAAATGATTTGCC 0.348000 6 778 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85708746 85708746 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr4:85708746G>A ENST00000322366.6 - 23 4197 c.3790C>T c.(3790-3792)Cgc>Tgc p.R1264C WDFY3_ENST00000295888.4_Missense_Mutation_p.R1264C Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1264 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GGTCCCAGGCGCCAAACCAAT 0.473000 5 306 0 0 1 0 0 TMEM8B 51754 broad.mit.edu 37 9 35853151 35853151 + Missense_Mutation SNP T T A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr9:35853151T>A ENST00000377988.2 + 12 2268 c.980T>A c.(979-981)cTg>cAg p.L327Q TMEM8B_ENST00000377991.4_Missense_Mutation_p.L327Q NM_001042590.2 NP_001036055.1 A6NDV4 TMM8B_HUMAN transmembrane protein 8B 327 cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 CTGTATTTGCTGGGAGCTATG 0.582000 7 984 0 0 1 0 0 ABCF3 55324 broad.mit.edu 37 3 183911015 183911015 + Missense_Mutation SNP A A G TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr3:183911015A>G ENST00000429586.2 + 19 2061 c.1876A>G c.(1876-1878)Atg>Gtg p.M626V ABCF3_ENST00000292808.5_Missense_Mutation_p.M620V|EIF2B5_ENST00000444495.1_Intron NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 626 ABC transporter 2. ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCAGATGACTATGCCCTGGTG 0.557000 144 415 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C A rs11540652 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:7577538C>A ENST00000420246.2 - 7 875 c.743G>T c.(742-744)cGg>cTg p.R248L TP53_ENST00000359597.4_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_Missense_Mutation_p.R248L|TP53_ENST00000413465.2_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000269305.4_Missense_Mutation_p.R248L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 68 162 4.83248e-46 5.41053e-46 1 1 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 7 303 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57859598 57859598 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:57859598C>T ENST00000228682.2 + 7 743 c.652C>T c.(652-654)Cgg>Tgg p.R218W GLI1_ENST00000546141.1_Missense_Mutation_p.R177W|GLI1_ENST00000543426.1_Missense_Mutation_p.R90W NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 218 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) GCTGGATGGGCGGGAGGACCT 0.552000 22 457 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29885739 29885739 + Missense_Mutation SNP T T A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr22:29885739T>A ENST00000310624.6 + 4 2143 c.2110T>A c.(2110-2112)Tcc>Acc p.S704T NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 710 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 AGAAGCAAAGTCCCCTGAGAA 0.557000 5 564 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207642232 207642232 + Missense_Mutation SNP T T A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:207642232T>A ENST00000367057.3 + 4 911 c.722T>A c.(721-723)tTc>tAc p.F241Y CR2_ENST00000367059.3_Missense_Mutation_p.F241Y|CR2_ENST00000367058.3_Missense_Mutation_p.F241Y|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.F241Y NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 241 Sushi 4. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GCAAACTTTTTCTGTGATGAA 0.433000 15 311 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 21 207 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98254285 98254285 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr7:98254285G>A ENST00000265634.3 + 3 860 c.695G>A c.(694-696)cGc>cAc p.R232H NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 232 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding p.R232H(1) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CTCCCACTCCGCACAAACTAC 0.597000 7 1045 0 0 1 0 0 SRR 63826 broad.mit.edu 37 17 2224891 2224891 + Missense_Mutation SNP G G C rs141694122 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:2224891G>C ENST00000344595.5 + 6 893 c.575G>C c.(574-576)gGa>gCa p.G192A SRR_ENST00000576848.1_Intron NM_021947.1 NP_068766.1 Q9GZT4 SRR_HUMAN serine racemase 192 D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide cytoplasm|neuronal cell body|soluble fraction ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ATGCTTGCTGGAATAGCAATT 0.403000 18 235 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103450025 103450025 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr14:103450025G>A ENST00000361246.2 - 7 1047 c.759C>T c.(757-759)gaC>gaT p.D253D NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 253 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TGCCCATGCCGTCCTCCATCG 0.582000 6 219 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353247 133353247 + Silent SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:133353247T>C ENST00000204726.3 - 21 4509 c.3951A>G c.(3949-3951)gaA>gaG p.E1317E GOLGA3_ENST00000450791.2_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1317 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCCCTTCCAGTTCCTTCCTGC 0.567000 5 424 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 10 403 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40980846 40980846 + Missense_Mutation SNP T T C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr20:40980846T>C ENST00000373198.3 - 10 1875 c.1640A>G c.(1639-1641)aAt>aGt p.N547S PTPRT_ENST00000373184.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373193.3_Missense_Mutation_p.N547S|PTPRT_ENST00000373187.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373201.1_Missense_Mutation_p.N547S|PTPRT_ENST00000356100.2_Missense_Mutation_p.N547S|PTPRT_ENST00000373190.1_Missense_Mutation_p.N547S NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 547 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTGGGTTTCATTCCGGAGCTT 0.567000 114 313 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422349 26422349 + RNA SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr6:26422349G>A ENST00000466808.2 + 0 3 GGGTGCTCATGGAACCAGCTG 0.627000 10 387 0 0 1 0 0 HIST1H2BM 8342 broad.mit.edu 37 6 27782982 27782982 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr6:27782982G>A ENST00000359465.4 + 1 161 c.161G>A c.(160-162)gGc>gAc p.G54D NM_003521.2 NP_003512.1 Q99879 H2B1M_HUMAN histone cluster 1, H2bm 54 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 12 CCCGACACCGGCATCTCTTCC 0.542000 7 802 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90372687 90372687 + Splice_Site SNP C C A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr6:90372687C>A ENST00000369393.3 - 86 14352 c.e86-1 MDN1_ENST00000428876.1_Splice_Site Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCATCCTCTTCTGAAAGGGAA 0.512000 5 487 0.000602214 0.000629099 1 1 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076139 57076139 + Missense_Mutation SNP G G A rs143761660 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:57076139G>A ENST00000532437.1 - 5 4357 c.4046C>T c.(4045-4047)gCg>gTg p.A1349V TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1349V Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1349 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) ATTCTGGGGCGCCAAGTCCTG 0.647000 6 860 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 9 201 0 0 1 0 0 WBP7 0 broad.mit.edu 37 19 36221301 36221301 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:36221301G>A ENST00000420124.1 + 24 5135 c.5135G>A c.(5134-5136)gGc>gAc p.G1712D WBP7_ENST00000222270.7_Missense_Mutation_p.G1712D|KMT2B_ENST00000607650.1_RNA GACTTCGAGGGCATCAACTTC 0.557000 8 1527 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64498737 64498737 + RNA SNP C C A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr7:64498737C>A ENST00000426828.1 + 0 0 NR_033416.1 gaggcggtggcggcggcggca 0.786000 5 55 0.0381472 0.0389801 1 1 0 ACKR3 57007 broad.mit.edu 37 2 237489775 237489775 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:237489775G>A ENST00000272928.3 + 2 977 c.667G>A c.(667-669)Gtt>Att p.V223I NM_020311.2 NP_064707.1 atypical chemokine receptor 3 GGGCTTTGCCGTTCCCTTCTC 0.567000 6 440 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72406856 72406856 + Silent SNP C C G TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:72406856C>G ENST00000359373.5 - 24 4178 c.3327G>C c.(3325-3327)gtG>gtC p.V1109V ARAP1_ENST00000393609.3_Silent_p.V1109V|ARAP1_ENST00000334211.8_Silent_p.V864V|ARAP1_ENST00000429686.1_Silent_p.V803V|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Silent_p.V864V|ARAP1_ENST00000393605.3_Silent_p.V869V|ARAP1_ENST00000455638.2_Silent_p.V1109V Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 1109 Rho-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 TGGGCCCAAACACAATTGCCA 0.552000 9 98 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76496126 76496126 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr15:76496126G>A ENST00000388942.3 + 11 1342 c.1066G>A c.(1066-1068)Gca>Aca p.A356T NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 356 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 CACCACGGCCGCAATAGACAT 0.602000 8 809 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14369548 14369548 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr5:14369548G>A ENST00000344204.4 + 18 3156 c.3132G>A c.(3130-3132)gcG>gcA p.A1044A TRIO_ENST00000537187.1_Silent_p.A1044A|TRIO_ENST00000509967.2_Silent_p.A995A NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1044 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GTGGCGGGGCGGATAAGCTGG 0.587000 5 377 0 0 1 0 0 BCL6B 255877 broad.mit.edu 37 17 6927434 6927434 + Missense_Mutation SNP C C T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:6927434C>T ENST00000293805.5 + 3 304 c.212C>T c.(211-213)gCg>gTg p.A71V BCL6B_ENST00000572216.1_Intron NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 71 BTB. nucleus zinc ion binding skin(1) 1 CGGGGCCGTGCGGGAGTCGGG 0.597000 7 796 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48604736 48604736 + Nonsense_Mutation SNP G G T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr18:48604736G>T ENST00000342988.3 + 12 2096 c.1558G>T c.(1558-1560)Gaa>Taa p.E520* SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*|SMAD4_ENST00000586253.1_3'UTR NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 520 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2)|p.E520*(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GAGCATCAAAGAAACACCTTG 0.488000 126 210 9.05284e-58 1.01844e-57 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33345146 33345146 + Nonsense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr20:33345146G>A ENST00000374796.2 - 8 3975 c.1405C>T c.(1405-1407)Cag>Tag p.Q469* NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q469* Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 469 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CTGACAGGCTGCTGAAATCCC 0.557000 159 434 0 0 1 0 0 PCDHB8 0 broad.mit.edu 37 5 140558166 140558166 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr5:140558166G>A ENST00000239444.2 + 1 796 c.551G>A c.(550-552)cGc>cAc p.R184H NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 184 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R184H(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTCCTCACCCGCAAACGCAGT 0.483000 7 529 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 11 42 --- --- --- --- ZBTB8A 653121 broad.mit.edu 37 1 33065979 33065981 + In_Frame_Del DEL GAA GAA - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:33065979_33065981delGAA ENST00000373510.4 + 5 1514_1516 c.1285_1287delGAA c.(1285-1287)del p.E433del ZBTB8OS_ENST00000341885.5_Intron|RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_3'UTR NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 433 Poly-Glu. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 TGATGATAGTGAAGAAGAAGAAG 0.414 8 296 --- --- --- --- C1orf94 84970 broad.mit.edu 37 1 34666398 34666398 + Frame_Shift_Del DEL A A - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:34666398delA ENST00000488417.1 + 3 1155 c.1035delA c.(1033-1035)ccfs p.P345fs C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 155 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CCAAGGAGCCAAAAAAGGGTC 0.572 7 455 --- --- --- --- CDC7 8317 broad.mit.edu 37 1 91967356 91967357 + Frame_Shift_Ins INS - - A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr1:91967356_91967357insA ENST00000428239.1 + 2 342_343 c.83_84insA c.(82-84)taafs p.*28fs CDC7_ENST00000430031.2_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.*28fs NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GAAGGCTCTTTAAAAAAAAACG 0.406 10 468 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 9 460 --- --- --- --- OTX1 5013 broad.mit.edu 37 2 63283259 63283261 + In_Frame_Del DEL CCA CCA - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:63283259_63283261delCCA ENST00000366671.3 + 5 1149_1151 c.873_875delCCA c.(871-876)ggc>gg p.GH291del OTX1_ENST00000282549.2_In_Frame_Del_p.GH291del NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 291 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) AGTCCTCAGGccaccaccaccac 0.640 9 505 --- --- --- --- CHMP3 51652 broad.mit.edu 37 2 86732976 86732978 + In_Frame_Del DEL TCC TCC - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:86732976_86732978delTCC ENST00000263856.4 - 6 746_748 c.618_620delGGA c.(616-621)gaa>ga p.EE206del CHMP3_ENST00000409225.2_In_Frame_Del_p.EE140del|CHMP3_ENST00000409727.1_In_Frame_Del_p.EE166del|RNF103-CHMP3_ENST00000604011.1_In_Frame_Del_p.EE235del|CHMP3_ENST00000439940.2_In_Frame_Del_p.EE235del NM_001193517.1|NM_016079.3 NP_001180446.1|NP_057163.1 charged multivesicular body protein 3 CAGAGCCTCTTCCTCCTCCTCCT 0.616 7 364 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 17 347 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 7 989 --- --- --- --- ALS2 57679 broad.mit.edu 37 2 202593780 202593780 + Frame_Shift_Del DEL T T - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:202593780delT ENST00000264276.6 - 14 3079 c.2707delA c.(2707-2709)tgfs p.M903fs ALS2_ENST00000457679.2_Frame_Shift_Del_p.M215fs NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 903 PH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 CTTACCGTCATTTTTCCGGGG 0.443 7 837 --- --- --- --- AAMP 14 broad.mit.edu 37 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr2:219134766delG ENST00000248450.4 - 1 214 c.44delC c.(43-45)cafs p.P15fs AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs Q13685 AAMP_HUMAN angio-associated, migratory cell protein 15 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding p.L16fs*9(1) haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCTCCAGTGGGGGGGTGTC 0.617 7 1801 --- --- --- --- TBC1D23 55773 broad.mit.edu 37 3 100039735 100039736 + Frame_Shift_Ins INS - - A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr3:100039735_100039736insA ENST00000394144.4 + 18 1945_1946 c.1938_1939insA c.(1936-1941)tcaaaafs p.SK646fs TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Frame_Shift_Ins_p.SK509fs|TBC1D23_ENST00000344949.5_Frame_Shift_Ins_p.SK631fs NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 646 intracellular Rab GTPase activator activity p.?(2)|p.H650fs*3(1)|p.H635fs*3(1) breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 AAATTACATCCAAAAAAAAACA 0.356 7 249 --- --- --- --- DHX36 170506 broad.mit.edu 37 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr3:154032977_154032978insT ENST00000496811.1 - 3 540_541 c.460_461insA c.(460-462)gttfs p.V154fs DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 154 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GATTCTAAACATTTTTTTTTCT 0.337 7 172 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389425 1389426 + Frame_Shift_Del DEL CA CA - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr4:1389425_1389426delCA ENST00000324803.4 + 1 4086_4087 c.1126_1127delCA c.(1126-1128)cfs p.H376fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 376 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCCGCCTGCTCACACGTGCCCA 0.639 8 1892 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140810639 140810641 + In_Frame_Del DEL GCT GCT - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr4:140810639_140810641delGCT ENST00000509479.2 - 2 2805_2807 c.1949_1951delAGC c.(1948-1953)ccg>c p.QP650del MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del|MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 646 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGAGGTGGCGgctgctgctgctg 0.586 7 238 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 8 766 --- --- --- --- CANX 821 broad.mit.edu 37 5 179149920 179149920 + Frame_Shift_Del DEL T T - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr5:179149920delT ENST00000247461.4 + 11 1498 c.1298delT c.(1297-1299)atfs p.I433fs CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs|CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs|CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs|CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 433 SDI -> LTF (in Ref. 9; AAA35696). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCTCTGACATTTTTTTTGAC 0.423 9 450 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 10 304 --- --- --- --- MDN1 23195 broad.mit.edu 37 6 90432786 90432786 + Frame_Shift_Del DEL A A - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr6:90432786delA ENST00000369393.3 - 40 5970 c.5855delT c.(5854-5856)tcfs p.F1952fs MDN1_ENST00000428876.1_Frame_Shift_Del_p.F1952fs Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1952 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ACACCAGCGGAAAAGGTCCCG 0.473 7 1038 --- --- --- --- STAG3L4 0 broad.mit.edu 37 7 66767610 66767611 + RNA INS - - G rs71293166 by1000genomes TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr7:66767610_66767611insG ENST00000416602.2 + 0 3_4 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) CACCGGACTGCTTTTTTTTTTT 0.545 8 15 --- --- --- --- TERF1 7013 broad.mit.edu 37 8 73921284 73921286 + In_Frame_Del DEL GAG GAG - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr8:73921284_73921286delGAG ENST00000276602.6 + 1 186_188 c.163_165delGAG c.(163-165)del p.E62del TERF1_ENST00000276603.5_In_Frame_Del_p.E62del NM_003218.3 NP_003209.2 P54274 TERF1_HUMAN telomeric repeat binding factor (NIMA-interacting) 1 62 Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Breast(64;0.218) Epithelial(68;0.0984) GGGGGCCCCCgaggaggaggagg 0.650 9 143 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1039 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTTGAAGAAGAGGAGGAGGAGG 0.463 9 514 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971143 21971152 + Frame_Shift_Del DEL CAGTTGGGCT CAGTTGGGCT - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr9:21971143_21971152delCAGTTGGGCT ENST00000579755.1 - 2 541_550 c.249_258delAGCCCAACTG c.(247-258)ggfs p.GAQL83fs CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.GAQL124fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.EPNC69fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.GAQL83fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.EPNC18fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 59 H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.E69V(3)|p.N71K(3)|p.P70L(2)|p.C72fs*74(2)|p.N71D(2)|p.E61fs*49(2)|p.N71fs*50(1)|p.P70A(1)|p.V59fs*45(1)|p.P70S(1)|p.N71N(1)|p.N71I(1)|p.E61fs*50(1)|p.C72S(1)|p.C72Y(1)|p.C72fs*71(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.C72G(1)|p.A68fs*3(1)|p.0(1)|p.L127fs*>47(1)|p.L63fs*75(1)|p.E69fs*51(1)|p.Q126R(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.N71fs*1(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GGGGTCGGCGCAGTTGGGCTCCGCGCCGTG 0.719 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 22 52 --- --- --- --- SPATA31E1 286234 broad.mit.edu 37 9 90499515 90499517 + In_Frame_Del DEL TCC TCC - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr9:90499515_90499517delTCC ENST00000325643.5 + 3 440_442 c.374_376delTCC c.(373-378)atc>a p.IL125del NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GCTTGCAGAATCCTCCTGAGGGA 0.576 60 255 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 8 325 --- --- --- --- C10orf68 79741 broad.mit.edu 37 10 33018277 33018277 + Frame_Shift_Del DEL A A - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr10:33018277delA ENST00000375030.2 + 13 1360 c.742delA c.(742-744)aafs p.K250fs C10orf68_ENST00000375025.4_Frame_Shift_Del_p.K242fs|C10orf68_ENST00000375028.3_Frame_Shift_Del_p.K218fs Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 242 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 TTTAGAAATCAAAAAAAAGGA 0.323 7 262 --- --- --- --- MBL1P 0 broad.mit.edu 37 10 81680656 81680656 + RNA DEL A A - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr10:81680656delA ENST00000480805.1 + 0 723 NR_002724.2 GCTTTTGGGGAAAAAAAAAAG 0.542 10 52 --- --- --- --- TNKS2 80351 broad.mit.edu 37 10 93601945 93601946 + Frame_Shift_Ins INS - - A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr10:93601945_93601946insA ENST00000371627.4 + 16 2235_2236 c.1856_1857insA c.(1855-1857)aaafs p.K619fs NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 619 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding p.N622fs*29(1) biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) GCAGACCCTACAAAAAAAAACA 0.391 7 217 --- --- --- --- RP13-726E6.2 0 broad.mit.edu 37 11 3552650 3552651 + RNA INS - - G rs34642454 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:3552650_3552651insG ENST00000527970.1 - 0 285 CAGCACCCCATGGGGGGGCCCT 0.500 13 32 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 8 1197 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 15 314 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407177 89407177 + RNA DEL C C - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:89407177delC ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTTTTTTTTCCCCAATCTGG 0.303 8 116 --- --- --- --- DDX6 1656 broad.mit.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr11:118629613_118629614insG ENST00000264018.4 - 9 1170 c.e9-2 DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL 12 607 --- --- --- --- ATN1 1822 broad.mit.edu 37 12 7045880 7045885 + In_Frame_Del DEL CAGCAA CAGCAA - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:7045880_7045885delCAGCAA ENST00000356654.4 + 5 1687_1692 c.1450_1455delCAGCAA c.(1450-1455)del p.QQ500del ATN1_ENST00000396684.2_In_Frame_Del_p.QQ500del NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 500 Poly-Gln. cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 CCATCACCACcagcaacagcaacagc 0.626 7 1411 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 12 89 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 8 811 --- --- --- --- E2F7 144455 broad.mit.edu 37 12 77449827 77449827 + Frame_Shift_Del DEL T T - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr12:77449827delT ENST00000322886.7 - 3 412 c.177delA c.(175-177)aafs p.K59fs E2F7_ENST00000416496.2_Frame_Shift_Del_p.K59fs NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 59 cell cycle transcription factor complex DNA binding|identical protein binding p.K59fs*29(2) central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 CTGGAGTAAATTTTTTTTGCT 0.363 7 520 --- --- --- --- DIS3 22894 broad.mit.edu 37 13 73337684 73337684 + Frame_Shift_Del DEL T T - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr13:73337684delT ENST00000377767.4 - 16 2132 c.2032delA c.(2032-2034)ttfs p.I678fs DIS3_ENST00000377780.4_Frame_Shift_Del_p.I648fs|DIS3_ENST00000545453.1_Frame_Shift_Del_p.I516fs NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 678 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TCCTCATGAATTTTTTTTGCA 0.358 Multiple Myeloma(4;0.011) 8 275 --- --- --- --- MMP14 4323 broad.mit.edu 37 14 23312996 23312996 + Frame_Shift_Del DEL A A - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr14:23312996delA ENST00000311852.6 + 6 1189 c.928delA c.(928-930)aafs p.K310fs MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 310 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TGATAAACCCAAAAACCCCAC 0.577 11 801 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 14 602 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23528502 23528503 + Frame_Shift_Del DEL TC TC - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr14:23528502_23528503delTC ENST00000262710.1 - 19 4207_4208 c.3880_3881delGA c.(3880-3882)afs p.E1294fs ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1294 Arg/Asp/Glu/Lys-rich. 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) ccgctccctttctctctctctc 0.629 OREG0022595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 336 --- --- --- --- KIAA0391 9692 broad.mit.edu 37 14 35592700 35592700 + Frame_Shift_Del DEL T T - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr14:35592700delT ENST00000557565.1 + 2 630 c.249delT c.(247-249)cafs p.H83fs KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000604948.1_Intron O15091 MRRP3_HUMAN KIAA0391 83 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CTGTTCCTCATTTTTTTTTAG 0.423 10 237 --- --- --- --- MBIP 51562 broad.mit.edu 37 14 36783734 36783735 + Frame_Shift_Ins INS - - T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr14:36783734_36783735insT ENST00000416007.4 - 4 641_642 c.554_555insA c.(553-555)gatfs p.D185fs MBIP_ENST00000359527.7_Frame_Shift_Ins_p.D185fs|MBIP_ENST00000318473.7_Frame_Shift_Ins_p.D185fs NM_001144891.1|NM_016586.2 NP_001138363.1|NP_057670.2 Q9NS73 MBIP1_HUMAN MAP3K12 binding inhibitory protein 1 185 Interaction with MAP3K12. histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity breast(2)|large_intestine(1)|lung(5) 8 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) TACAATCAATAACATTGCAAAA 0.277 26 89 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 9 648 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 7 1017 --- --- --- --- NARG2 79664 broad.mit.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr15:60745782delA ENST00000561114.1 - 9 1307 c.1145delT c.(1144-1146)tcfs p.F382fs NARG2_ENST00000261520.4_Intron|NARG2_ENST00000439632.1_Intron NM_001276385.1 NP_001263314.1 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 0 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCCTTAGGGGAAAAAAAAAGC 0.338 8 177 --- --- --- --- TLN2 83660 broad.mit.edu 37 15 63076122 63076123 + Frame_Shift_Del DEL CA CA - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr15:63076122_63076123delCA ENST00000472902.1 + 9 1201_1202 c.948_949delCA c.(946-951)tgcafs p.CT316fs TLN2_ENST00000306829.6_Intron|TLN2_ENST00000561311.1_Intron Q9Y4G6 TLN2_HUMAN talin 2 0 FERM.|Interaction with PIP5K1C (By similarity). cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TTTTAAGATGCACACACACACT 0.554 8 415 --- --- --- --- RP11-114H24.7 0 broad.mit.edu 37 15 78211738 78211739 + RNA INS - - C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr15:78211738_78211739insC ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA aaaaaaaaaaaaaaaaaCCTCC 0.505 14 95 --- --- --- --- RP11-166B2.1 0 broad.mit.edu 37 16 12021340 12021341 + In_Frame_Ins INS - - TGG TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr16:12021340_12021341insTGG ENST00000399147.4 - 8 1082_1083 c.1083_1084insCCA c.(1081-1086)gacacc>gaCCAcacc p.361_362DT>DHT lung(2) 2 TCGGGTGGTGATTCCACCTCAG 0.609 10 30 --- --- --- --- OGFOD1 55239 broad.mit.edu 37 16 56509438 56509439 + Frame_Shift_Ins INS - - G rs147207036 by1000genomes TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr16:56509438_56509439insG ENST00000566157.1 + 12 1551_1552 c.1428_1429insG c.(1426-1431)gggtttfs p.F477fs OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.F434fs NM_018233.3 NP_060703.3 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 1 477 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) CAGAATATGGCGGTTTTACTTC 0.371 17 459 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 11 200 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 17 187 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:56387404_56387406delTCC ENST00000355701.3 - 21 4683_4685 c.3813_3815delGGA c.(3811-3816)gaa>ga p.EE1273del BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del|BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1273 Poly-Glu. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGctcctcttcctcctcctcct 0.586 11 402 --- --- --- --- SLC26A11 284129 broad.mit.edu 37 17 78201649 78201651 + In_Frame_Del DEL TGC TGC - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr17:78201649_78201651delTGC ENST00000361193.3 + 7 906_908 c.626_628delTGC c.(625-630)atg>a p.ML209del SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 209 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTGGTCTGCATGCTGCTGCTGCT 0.675 11 695 --- --- --- --- YIPF2 78992 broad.mit.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:11038362_11038364delGCT ENST00000586748.1 - 4 393_395 c.221_223delAGC c.(220-225)ccg>c p.QP74del YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 74 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CAGAATCCCGgctgctgctgctg 0.621 8 351 --- --- --- --- DMKN 93099 broad.mit.edu 37 19 36002362 36002412 + In_Frame_Del DEL CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG - rs112672248 byFrequency TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG ENST00000339686.3 - 5 995_1045 c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG c.(817-870)agt>ag p.SSGSSSGGSSGGSSGGSS273del DMKN_ENST00000418261.1_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del|DMKN_ENST00000447113.2_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000440396.1_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000451297.2_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del|DMKN_ENST00000424570.2_In_Frame_Del_p.SSGSSSGGSSGGSSGGSS273del NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 273 Gly-rich. extracellular region p.S274_S290del(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) actgttgccactgctgccaccactgctgccgccactgctgccgccactgctgctgccactgctgctgccac 0.641 11 98 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 9 711 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54843564 54843565 + RNA INS - - C rs144647366 by1000genomes TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr19:54843564_54843565insC ENST00000507363.1 - 0 430 CGGCTGCTCCTCCCCAGGCTGC 0.723 5 11 --- --- --- --- MYT1 4661 broad.mit.edu 37 20 62839333 62839335 + In_Frame_Del DEL GAG GAG - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr20:62839333_62839335delGAG ENST00000536311.1 + 7 1148_1150 c.784_786delGAG c.(784-786)del p.E273del MYT1_ENST00000328439.1_In_Frame_Del_p.E273del|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 273 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) agaggaggacgaggaggaggagg 0.596 9 109 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918793 20918795 + In_Frame_Del DEL CAG CAG - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chr22:20918793_20918795delCAG ENST00000263205.7 + 6 577_579 c.508_510delCAG c.(508-510)del p.Q174del MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 174 Poly-Gln. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) gcagcagttccagcagcagcagc 0.616 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 171 --- --- --- --- ZDHHC15 158866 broad.mit.edu 37 X 74649035 74649036 + Splice_Site INS - - A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chrX:74649035_74649036insA ENST00000541184.1 - 6 933 c.e6-2 ZDHHC15_ENST00000373367.3_Splice_Site|ZDHHC15_ENST00000373361.3_Intron NM_001146256.1 NP_001139728.1 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 integral to membrane zinc ion binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2) 26 TTATTAACCCTAAAAAAAAAGA 0.366 7 257 --- --- --- --- ARMCX3 51566 broad.mit.edu 37 X 100880152 100880154 + In_Frame_Del DEL TGA TGA - TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b11642c-98d8-4ff5-bcd6-ced9bdc1e088 d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce g.chrX:100880152_100880154delTGA ENST00000341189.4 + 5 1049_1051 c.183_185delTGA c.(181-186)tct>tc p.SD61del ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 61 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 ATGACTGGTCTGATGATGATGAT 0.517 10 1062 --- --- --- ---