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 ADC 113451 broad.mit.edu 37 1 33583527 33583527 + Missense_Mutation SNP T T C TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr1:33583527T>C ENST00000294517.6 + 11 1641 c.1054T>C c.(1054-1056)Tac>Cac p.Y352H ADC_ENST00000398167.1_Missense_Mutation_p.Y372H|ADC_ENST00000373441.1_Missense_Mutation_p.Y372H|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Missense_Mutation_p.Y352H NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 352 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) GCAGCCCCTGTACAGCAGCAG 0.607000 29 66 0 0 1 0 0 SHCBP1 79801 broad.mit.edu 37 16 46655241 46655241 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr16:46655241G>A ENST00000303383.3 - 1 297 c.31C>T c.(31-33)Ctg>Ttg p.L11L SHCBP1_ENST00000564272.1_5'UTR NM_024745.4 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 11 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) GCTGCCTCCAGACCGCCGCCC 0.667000 6 35 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92765014 92765014 + Missense_Mutation SNP C C G TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr7:92765014C>G ENST00000318238.4 - 5 1487 c.271G>C c.(271-273)Gat>Cat p.D91H SAMD9L_ENST00000411955.1_Missense_Mutation_p.D91H|SAMD9L_ENST00000437805.1_Missense_Mutation_p.D91H NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 91 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTTGAATTATCTAATTGTCCC 0.368000 14 92 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13941598 13941598 + Missense_Mutation SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr19:13941598G>A ENST00000254323.2 + 13 2893 c.2704G>A c.(2704-2706)Gcc>Acc p.A902T ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A736T NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 902 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) ACGCCGGGCCGCCAAGCCACT 0.687000 3 28 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr1:142713773C>G ENST00000610091.1 - 0 1885 TCTTTTTCCACATTGTCATTT 0.284000 4 78 0 0 1 0 0 TRAF3 7187 broad.mit.edu 37 14 103336772 103336772 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr14:103336772G>A ENST00000560371.1 + 2 451 c.234G>A c.(232-234)gcG>gcA p.A78A TRAF3_ENST00000347662.4_Silent_p.A78A|TRAF3_ENST00000392745.2_Silent_p.A78A|TRAF3_ENST00000351691.5_Silent_p.A78A|TRAF3_ENST00000539721.1_Silent_p.A78A NM_003300.3|NM_145725.2 NP_003291.2|NP_663777.1 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 78 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) GCTGCATGGCGGCCCTGCTGA 0.627000 5 18 0 0 1 0 0 WDR31 114987 broad.mit.edu 37 9 116085093 116085093 + Missense_Mutation SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr9:116085093C>T ENST00000374193.4 - 7 814 c.568G>A c.(568-570)Gtg>Atg p.V190M WDR31_ENST00000374195.3_Missense_Mutation_p.V65M|WDR31_ENST00000341761.4_Missense_Mutation_p.V189M|WDR31_ENST00000461942.1_5'UTR NM_001012361.2|NM_145241.3 NP_001012361.1|NP_660284.1 Q8NA23 WDR31_HUMAN WD repeat domain 31 190 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 GTTCATACCACGTTCCTGGAG 0.522000 5 44 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139313770 139313770 + Missense_Mutation SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr7:139313770C>T ENST00000406875.3 - 5 1457 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K HIPK2_ENST00000428878.2_Missense_Mutation_p.E455K|HIPK2_ENST00000342645.6_Missense_Mutation_p.E455K NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 455 Interaction with DAXX.|Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GTCTCTGCTTCATGGTCATCT 0.453000 3 12 0 0 1 0 0 TRIM37 4591 broad.mit.edu 37 17 57139956 57139956 + Missense_Mutation SNP C C A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr17:57139956C>A ENST00000376149.3 - 11 1357 c.548G>T c.(547-549)gGa>gTa p.G183V TRIM37_ENST00000393065.2_Missense_Mutation_p.G271V|TRIM37_ENST00000393066.3_Missense_Mutation_p.G305V|TRIM37_ENST00000262294.7_Missense_Mutation_p.G305V O94972 TRI37_HUMAN tripartite motif containing 37 305 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding 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) CCAGCAAAGTCCTGAAACTTG 0.358000 Mulibrey Nanism 3 42 0.004672 0.00491282 1 1 0 SCARB2 950 broad.mit.edu 37 4 77095365 77095365 + Missense_Mutation SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr4:77095365G>A ENST00000264896.2 - 7 1275 c.926C>T c.(925-927)gCc>gTc p.A309V SCARB2_ENST00000452464.2_Missense_Mutation_p.A166V NM_005506.3 NP_005497.1 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 309 cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1) 22 Lung(101;0.196) ACAGAAGCCGGCATTGTCTGA 0.463000 4 155 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76022150 76022150 + Missense_Mutation SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr6:76022150G>A ENST00000393004.2 - 5 3619 c.3398C>T c.(3397-3399)cCg>cTg p.P1133L FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.P1133L|FILIP1_ENST00000370020.1_Missense_Mutation_p.P1034L Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1133 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CGTTGTGACCGGTGTTATGGT 0.562000 22 90 0 0 1 0 0 SEPT14 346288 broad.mit.edu 37 7 55872965 55872965 + Missense_Mutation SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr7:55872965C>T ENST00000388975.3 - 9 1221 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 369 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTTTCAGCTTCTTTAAATGTT 0.343000 9 26 0 0 1 0 0 FCGR2A 2212 broad.mit.edu 37 1 161480633 161480633 + Missense_Mutation SNP T T C TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr1:161480633T>C ENST00000271450.6 + 5 667 c.629T>C c.(628-630)aTg>aCg p.M210T FCGR2A_ENST00000367972.4_Missense_Mutation_p.M209T NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 210 integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GTGCCCAGCATGGGCAGCTCT 0.517000 41 121 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 37 0 0 1 0 0 SLC51A 200931 broad.mit.edu 37 3 195955698 195955698 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr3:195955698G>A ENST00000296327.5 + 6 749 c.540G>A c.(538-540)ctG>ctA p.L180L NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit TTCAGCTGCTGATGTTGGGCC 0.597000 15 89 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 3 26 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48807843 48807843 + Missense_Mutation SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr2:48807843C>T ENST00000309835.3 + 1 81 c.71C>T c.(70-72)tCa>tTa p.S24L STON1_ENST00000404752.1_Missense_Mutation_p.S24L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S24L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S24L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S24L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S24L|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S24L|STON1_ENST00000406226.1_Missense_Mutation_p.S24L stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TCTCAAAAGTCAAAGAATTTT 0.458000 11 57 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37202942 37202942 + Splice_Site SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr20:37202942G>A ENST00000262879.6 + 29 4575 c.e29+1 RALGAPB_ENST00000397042.3_Splice_Site|RALGAPB_ENST00000490114.1_Splice_Site|RALGAPB_ENST00000397040.1_Splice_Site|RALGAPB_ENST00000397038.1_Splice_Site Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CGAGCTCTTGGTAAGGTCTTC 0.343000 17 98 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7840334 7840334 + Missense_Mutation SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr4:7840334G>A ENST00000420658.1 - 6 915 c.643C>T c.(643-645)Cac>Tac p.H215Y AFAP1_ENST00000382543.3_Missense_Mutation_p.H215Y|AFAP1_ENST00000358461.2_Missense_Mutation_p.H215Y|AFAP1_ENST00000360265.4_Missense_Mutation_p.H215Y NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 215 PH 1. actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 TTCAGCTCGTGCTTCTTCTTT 0.532000 15 87 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35704763 35704763 + Missense_Mutation SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr9:35704763G>A ENST00000314888.9 - 44 6136 c.5783C>T c.(5782-5784)gCc>gTc p.A1928V TLN1_ENST00000540444.1_Missense_Mutation_p.A1822V|TLN1_ENST00000464379.1_5'UTR NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1928 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GACCAGAGCGGCACAGCCATG 0.572000 3 41 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60903988 60903988 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr20:60903988G>A ENST00000252999.3 - 34 4425 c.4359C>T c.(4357-4359)ttC>ttT p.F1453F NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1453 Laminin EGF-like 12. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTGGCCCCCGAAGGGCTCAC 0.632000 9 49 0 0 1 0 0 MYCT1 80177 broad.mit.edu 37 6 153043104 153043104 + Missense_Mutation SNP C C G TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr6:153043104C>G ENST00000367245.5 + 2 432 c.424C>G c.(424-426)Ctc>Gtc p.L142V MYCT1_ENST00000529453.1_Intron NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 142 nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) CCTGGCCAGTCTCACCTTCCA 0.498000 12 58 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49636505 49636505 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr19:49636505G>A ENST00000334186.4 + 9 1387 c.1038G>A c.(1036-1038)aaG>aaA p.K346K PPFIA3_ENST00000602351.1_Silent_p.K346K NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 346 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GTGAAGAGAAGAGCCGTCAGC 0.706000 8 17 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171510093 171510093 + Missense_Mutation SNP A A C TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr1:171510093A>C ENST00000367742.3 + 16 3730 c.3488A>C c.(3487-3489)aAa>aCa p.K1163T PRRC2C_ENST00000338920.4_Missense_Mutation_p.K1161T|PRRC2C_ENST00000392078.3_Missense_Mutation_p.K1163T|PRRC2C_ENST00000426496.2_Missense_Mutation_p.K1161T Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1161 protein C-terminus binding GCAGTTAAAAAAGAATCAACT 0.443000 3 29 0 0 1 0 0 SPATS1 221409 broad.mit.edu 37 6 44336195 44336195 + Silent SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr6:44336195C>T ENST00000288390.2 + 5 1001 c.654C>T c.(652-654)ttC>ttT p.F218F RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Silent_p.F218F Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 218 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GTAAAGGCTTCCACAAAGCAG 0.378000 9 58 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7651507 7651507 + Silent SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr12:7651507C>T ENST00000359156.4 - 4 937 c.735G>A c.(733-735)aaG>aaA p.K245K CD163_ENST00000396620.3_Silent_p.K245K|CD163_ENST00000432237.2_Silent_p.K245K|CD163_ENST00000541972.1_Silent_p.K233K NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 245 SRCR 2. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CACAGTTATGCTTTCCCCATC 0.438000 13 90 0 0 1 0 0 NCOR1P1 149934 broad.mit.edu 37 20 26084295 26084295 + RNA SNP C C T rs76611503 by1000genomes TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr20:26084295C>T ENST00000478176.1 - 0 162 NR_003678.1 p.G41R(1) TGTTTGCCTCCAAATGCTGGA 0.373000 4 36 0 0 1 0 0 CHODL 140578 broad.mit.edu 37 21 19638303 19638303 + Missense_Mutation SNP C C G TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr21:19638303C>G ENST00000299295.2 + 6 1161 c.770C>G c.(769-771)tCt>tGt p.S257C CHODL_ENST00000338326.3_Missense_Mutation_p.L182V|CHODL_ENST00000400127.1_Missense_Mutation_p.S216C|CHODL_ENST00000400131.1_Missense_Mutation_p.L182V|CHODL_ENST00000400135.1_Missense_Mutation_p.L182V|CHODL_ENST00000543733.1_Missense_Mutation_p.S238C|CHODL_ENST00000400128.1_Missense_Mutation_p.S216C NM_001204175.1|NM_024944.2 NP_001191104.1|NP_079220.2 Q9H9P2 CHODL_HUMAN chondrolectin 257 muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) CCAAACCAGTCTACACTGTGG 0.323000 10 57 0 0 1 0 0 C5orf45 51149 broad.mit.edu 37 5 179275018 179275018 + Silent SNP A A G TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr5:179275018A>G ENST00000518219.1 - 3 186 c.175T>C c.(175-177)Tta>Cta p.L59L C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000403396.2_Silent_p.L101L|C5orf45_ENST00000518235.1_Silent_p.L59L|C5orf45_ENST00000523084.1_Intron|C5orf45_ENST00000521333.1_Silent_p.L59L|C5orf45_ENST00000292586.6_Silent_p.L59L|C5orf45_ENST00000520698.1_Intron Q6NTE8 CE045_HUMAN chromosome 5 open reading frame 45 59 breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 AGTAGATTTAACTTTTGGACA 0.428000 14 108 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31321574 31321574 + Splice_Site SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr15:31321574G>A ENST00000542188.1 - 23 3512 c.3199C>T c.(3199-3201)Cct>Tct p.P1067S TRPM1_ENST00000256552.6_Splice_Site_p.P1050S|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Splice_Site_p.P1028S|RP11-348B17.1_ENST00000558755.1_RNA NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1028 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GTAAACTTACGATTAATTTCC 0.333000 3 30 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95719324 95719324 + RNA SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr10:95719324C>T ENST00000480546.1 - 0 1973 NR_002319.2 TAGCCAGTTTCACCAGATTCT 0.458000 3 20 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 3 55 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50717344 50717344 + Missense_Mutation SNP C C G TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr22:50717344C>G ENST00000449103.1 - 28 4626 c.4486G>C c.(4486-4488)Gac>Cac p.D1496H PLXNB2_ENST00000359337.4_Missense_Mutation_p.D1496H O15031 PLXB2_HUMAN plexin B2 1496 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TACACCTGGTCAATGATCTTC 0.647000 5 13 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47349907 47349907 + Missense_Mutation SNP C C A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr21:47349907C>A ENST00000400314.1 + 12 1132 c.794C>A c.(793-795)cCc>cAc p.P265H PCBP3_ENST00000400310.1_Missense_Mutation_p.P265H|PCBP3_ENST00000400308.1_Missense_Mutation_p.P239H|PCBP3_ENST00000400309.1_Missense_Mutation_p.P264H|PCBP3_ENST00000400304.1_Missense_Mutation_p.P255H|PCBP3_ENST00000449640.1_Missense_Mutation_p.P265H|PRED62_ENST00000593412.1_Intron P57721 PCBP3_HUMAN poly(rC) binding protein 3 265 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) CCCGCTTTCCCCGGTACGTAC 0.572000 8 46 1 1 1 1 0 NUCB1 4924 broad.mit.edu 37 19 49425159 49425159 + Missense_Mutation SNP G G C TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr19:49425159G>C ENST00000405315.4 + 12 1583 c.1249G>C c.(1249-1251)Gag>Cag p.E417Q NUCB1_ENST00000263273.5_Missense_Mutation_p.E417Q|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_Missense_Mutation_p.E417Q NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 417 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 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;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) TGCCCACCCTGAGGGGCAGCT 0.682000 3 8 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 5 50 0 0 1 0 0 QARS 5859 broad.mit.edu 37 3 49136324 49136324 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr3:49136324G>A ENST00000306125.6 - 19 2194 c.1857C>T c.(1855-1857)ttC>ttT p.F619F QARS_ENST00000414533.1_Silent_p.F608F P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 619 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) TTACCTCCTTGAAGTCAGTCC 0.517000 8 39 0 0 1 0 0 FTSJ2 29960 broad.mit.edu 37 7 2279304 2279304 + Missense_Mutation SNP C C A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr7:2279304C>A ENST00000440306.2 - 2 82 c.47G>T c.(46-48)gGg>gTg p.G16V FTSJ2_ENST00000242257.8_Missense_Mutation_p.G16V|FTSJ2_ENST00000486040.1_5'UTR Q9UI43 RRMJ2_HUMAN FtsJ RNA methyltransferase homolog 2 (E. coli) 16 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) AGTGTGGAACCCTTGACGCTG 0.572000 18 74 8.28177e-16 9.08323e-16 1 1 0 GPR133 283383 broad.mit.edu 37 12 131487741 131487741 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr12:131487741G>A ENST00000261654.5 + 10 1597 c.1038G>A c.(1036-1038)gtG>gtA p.V346V GPR133_ENST00000376682.4_Silent_p.V32V|GPR133_ENST00000535015.1_Silent_p.V378V NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 346 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) ACAGCGCCGTGGTACTGAGTC 0.592000 53 103 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67799729 67799729 + Silent SNP A A G TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr13:67799729A>G ENST00000544246.1 - 2 3535 c.2844T>C c.(2842-2844)ttT>ttC p.F948F PCDH9_ENST00000456367.1_Silent_p.F948F|PCDH9_ENST00000377865.2_Silent_p.F948F|PCDH9_ENST00000377861.3_Silent_p.F948F|PCDH9_ENST00000328454.5_Silent_p.F948F NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 948 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GTTTGAGATGAAAAGCAGGCT 0.498000 16 92 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136923007 136923007 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr6:136923007G>A ENST00000359015.4 - 20 3150 c.2790C>T c.(2788-2790)aaC>aaT p.N930N MAP3K5_ENST00000355845.4_Silent_p.N177N NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 930 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CAAGCAAGTCGTTAGCACAGG 0.413000 11 43 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32813913 32813913 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr13:32813913G>A ENST00000380250.3 + 46 7078 c.6582G>A c.(6580-6582)acG>acA p.T2194T NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2194 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TTTATAAAACGCACAGCTACA 0.378000 3 47 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr5:140237249G>C ENST00000307360.5 + 1 1616 c.1616G>C c.(1615-1617)gGg>gCg p.G539A PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018901.2 NP_061724.1 p.G539A(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGATGGGGGCGTGCCG 0.687000 8 114 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 7949327 7949327 + Missense_Mutation SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr18:7949327C>T ENST00000332175.8 + 6 1849 c.812C>T c.(811-813)tCa>tTa p.S271L PTPRM_ENST00000400053.4_Missense_Mutation_p.S209L|PTPRM_ENST00000444013.1_Missense_Mutation_p.S58L|PTPRM_ENST00000400060.4_Missense_Mutation_p.S271L|PTPRM_ENST00000580170.1_Missense_Mutation_p.S271L NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 271 Ig-like C2-type. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GTTGGAATATCAAACTATGCA 0.373000 17 60 0 0 1 0 0 PODXL 5420 broad.mit.edu 37 7 131189255 131189255 + Missense_Mutation SNP C C G TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr7:131189255C>G ENST00000541194.1 - 9 1755 c.1498G>C c.(1498-1500)Gag>Cag p.E500Q PODXL_ENST00000322985.9_Missense_Mutation_p.E466Q|PODXL_ENST00000378555.3_Missense_Mutation_p.E498Q|PODXL_ENST00000537928.1_Missense_Mutation_p.E466Q NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 498 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) TGCAGCTCCTCTGTTAGCCGC 0.542000 20 90 0 0 1 0 0 CCNE2 9134 broad.mit.edu 37 8 95897354 95897354 + Missense_Mutation SNP C C G TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr8:95897354C>G ENST00000520509.1 - 9 1024 c.772G>C c.(772-774)Gat>Cat p.D258H CCNE2_ENST00000396133.3_Missense_Mutation_p.D258H|CCNE2_ENST00000308108.4_Missense_Mutation_p.D258H O96020 CCNE2_HUMAN cyclin E2 258 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) TTAGGAGCATCTTTAAGAGCA 0.323000 19 22 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8651317 8651317 + Missense_Mutation SNP C C A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr19:8651317C>A ENST00000270328.4 - 20 2707 c.2441G>T c.(2440-2442)cGc>cTc p.R814L ADAMTS10_ENST00000595838.1_Missense_Mutation_p.R301L|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R814L Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 814 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GGCATTGAAGCGGTAGCGGAG 0.667000 OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 24 5.4927e-09 5.96017e-09 1 1 0 KRT1 3848 broad.mit.edu 37 12 53069127 53069127 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr12:53069127G>A ENST00000252244.3 - 9 1843 c.1785C>T c.(1783-1785)ggC>ggT p.G595G NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 595 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 agctgccgccgccgccgcctc 0.716000 5 24 0 0 1 0 0 CEL 1056 broad.mit.edu 37 9 135945930 135945930 + Missense_Mutation SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr9:135945930G>A ENST00000372080.4 + 10 1394 c.1378G>A c.(1378-1380)Gat>Aat p.D460N CEL_ENST00000351304.7_Intron NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 457 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CGACCATGCAGATGACATTCA 0.602000 11 43 0 0 1 0 0 MFI2 4241 broad.mit.edu 37 3 196736560 196736560 + Missense_Mutation SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr3:196736560C>T ENST00000296350.5 - 11 1567 c.1454G>A c.(1453-1455)gGc>gAc p.G485D NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 485 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GACATCCCAGCCTGCAGGGCT 0.632000 9 56 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr1:142713774A>G ENST00000610091.1 - 0 1884 CTTTTTCCACATTGTCATTTT 0.284000 5 79 0 0 1 0 0 FCN1 2219 broad.mit.edu 37 9 137801701 137801701 + Silent SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr9:137801701C>T ENST00000371806.3 - 9 1015 c.924G>A c.(922-924)gcG>gcA p.A308A NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 308 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) ACCCCTTCGCCGCACTCCAGT 0.572000 11 58 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26542749 26542749 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr13:26542749G>A ENST00000381655.2 + 35 3451 c.3309G>A c.(3307-3309)gaG>gaA p.E1103E ATP8A2_ENST00000255283.8_Silent_p.E1038E NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 1063 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TGCTGGAGGAGGTGCAGGAGC 0.522000 3 17 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126722226 126722226 + Silent SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr3:126722226C>T ENST00000251772.4 + 3 1431 c.1362C>T c.(1360-1362)agC>agT p.S454S PLXNA1_ENST00000393409.2_Silent_p.S477S Q9UIW2 PLXA1_HUMAN plexin A1 477 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CCTACGAGAGCGTCGTGGCCC 0.662000 4 21 0 0 1 0 0 TAF11 6882 broad.mit.edu 37 6 34848064 34848064 + Splice_Site SNP A A G TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr6:34848064A>G ENST00000361288.4 - 3 540 c.e3+1 TAF11_ENST00000420584.2_Splice_Site|UHRF1BP1_ENST00000452449.2_Intron NM_005643.3 NP_005634.1 Q15544 TAF11_HUMAN TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIID complex protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 GTCCATCCTTACCCTTTTGAT 0.453000 13 77 0 0 1 0 0 FOXN3 1112 broad.mit.edu 37 14 89878778 89878778 + Missense_Mutation SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr14:89878778C>T ENST00000345097.4 - 2 159 c.43G>A c.(43-45)Gga>Aga p.G15R FOXN3_ENST00000261302.5_Missense_Mutation_p.G15R|FOXN3_ENST00000557258.1_Missense_Mutation_p.G15R|FOXN3_ENST00000555353.1_Missense_Mutation_p.G15R|RP11-33N16.3_ENST00000555070.1_RNA NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 15 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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 endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ACACTAATTCCTGAGCTTTCT 0.512000 5 41 0 0 1 0 0 PPIL4 85313 broad.mit.edu 37 6 149826813 149826813 + Missense_Mutation SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr6:149826813G>A ENST00000253329.2 - 13 1287 c.1255C>T c.(1255-1257)Cac>Tac p.H419Y PPIL4_ENST00000340881.2_Silent_p.V51V NM_139126.3 NP_624311.1 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 419 protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 13 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) TCTTCATAGTGACCAAACCCC 0.403000 13 54 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579315 82579315 + Missense_Mutation SNP G G T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr7:82579315G>T ENST00000333891.9 - 6 10926 c.10589C>A c.(10588-10590)cCa>cAa p.P3530Q PCLO_ENST00000437081.1_Missense_Mutation_p.P250Q|PCLO_ENST00000423517.2_Missense_Mutation_p.P3530Q NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTTCCAACTGGTTCAGTTTG 0.463000 10 38 7.48243e-07 7.95008e-07 1 1 0 NXF3 56000 broad.mit.edu 37 X 102332665 102332665 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chrX:102332665G>A ENST00000395065.3 - 18 1562 c.1461C>T c.(1459-1461)atC>atT p.I487I NXF3_ENST00000425644.1_Silent_p.I159I NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 487 NTF2. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 TGTCATTCACGATGCACAGAC 0.557000 23 49 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79258938 79258938 + Missense_Mutation SNP G G C TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr4:79258938G>C ENST00000264895.6 + 20 2829 c.2389G>C c.(2389-2391)Gag>Cag p.E797Q FRAS1_ENST00000325942.6_Missense_Mutation_p.E797Q NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 797 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CTGCAGGGAAGAGCAGTTCCT 0.557000 11 63 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201751421 201751421 + Missense_Mutation SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr1:201751421C>T ENST00000367296.4 + 6 2201 c.1781C>T c.(1780-1782)tCg>tTg p.S594L NAV1_ENST00000367297.4_Missense_Mutation_p.S594L|NAV1_ENST00000367302.1_Missense_Mutation_p.S607L|NAV1_ENST00000295624.6_Missense_Mutation_p.S594L|NAV1_ENST00000367295.1_Missense_Mutation_p.S203L|NAV1_ENST00000367300.3_Missense_Mutation_p.S594L|IPO9-AS1_ENST00000413035.1_RNA NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 594 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding p.S594L(1) breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 AAGCCCCCCTCGGGCATTGCT 0.582000 9 49 0 0 1 0 0 PRELID2 153768 broad.mit.edu 37 5 145197525 145197525 + Silent SNP A A C TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr5:145197525A>C ENST00000334744.4 - 5 388 c.336T>G c.(334-336)ctT>ctG p.L112L PRELID2_ENST00000505416.1_Silent_p.L100L|PRELID2_ENST00000394450.2_Silent_p.L71L|PRELID2_ENST00000511435.1_Silent_p.L100L|PRELID2_ENST00000358004.2_Silent_p.L100L NM_182960.2 NP_892005.1 Q8N945 PRLD2_HUMAN PRELI domain containing 2 112 PRELI/MSF1. endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGTCCACGTAAGGCAGTGAC 0.438000 16 59 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79051886 79051886 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr15:79051886G>A ENST00000388820.4 - 24 5148 c.4938C>T c.(4936-4938)tgC>tgT p.C1646C NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1646 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.C1646C(4) 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 GCAGCGTCTCGCAGAACCCGA 0.701000 2 1 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52272624 52272624 + Missense_Mutation SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr19:52272624G>A ENST00000598776.1 + 2 1485 c.713G>A c.(712-714)cGt>cAt p.R238H FPR2_ENST00000598953.1_Missense_Mutation_p.R238H|FPR2_ENST00000340023.6_Missense_Mutation_p.R238H NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 238 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity p.R238H(1) endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 AAATCCAGCCGTCCCTTACGG 0.507000 8 25 0 0 1 0 0 STK38L 23012 broad.mit.edu 37 12 27470927 27470927 + Missense_Mutation SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr12:27470927G>A ENST00000389032.3 + 11 1223 c.1054G>A c.(1054-1056)Gag>Aag p.E352K STK38L_ENST00000539577.1_Missense_Mutation_p.E259K NM_015000.3 NP_055815.1 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like 352 Protein kinase. intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 Colorectal(261;0.0847) ACCTATATCTGAGAAAGCCAA 0.383000 10 52 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6933419 6933419 + Missense_Mutation SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr12:6933419G>A ENST00000311268.3 + 2 1142 c.355G>A c.(355-357)Gtg>Atg p.V119M GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 119 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 CATGTGGATGGTGCGCTGGCC 0.602000 8 43 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 49030426 49030426 + Nonsense_Mutation SNP C C A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr13:49030426C>A ENST00000267163.4 + 19 2039 c.1901C>A c.(1900-1902)tCa>tAa p.S634* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 634 Pocket; binds T and E1A.|Spacer. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(10)|p.S634*(3) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAAGCAACCTCAGCCTTCCAG 0.368000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 10 33 4.68919e-08 5.03471e-08 1 1 0 TRAV39 28642 broad.mit.edu 37 14 22772176 22772176 + RNA SNP A A G TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr14:22772176A>G ENST00000390466.1 + 0 69 TGAAAGTGGAACAAAACCCTC 0.463000 3 10 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652378 121652378 + Missense_Mutation SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr7:121652378C>T ENST00000393386.2 + 12 3689 c.3278C>T c.(3277-3279)tCt>tTt p.S1093F PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1093 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GTTTCCATTTCTAGCACCAAG 0.388000 15 78 0 0 1 0 0 SPRR1B 6699 broad.mit.edu 37 1 153005017 153005017 + Missense_Mutation SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr1:153005017C>T ENST00000307098.4 + 2 261 c.196C>T c.(196-198)Cac>Tac p.H66Y SPRR1B_ENST00000392661.3_Intron NM_003125.2 NP_003116.2 P22528 SPR1B_HUMAN small proline-rich protein 1B 66 6 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2) 9 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGAGCCATGCCACCCCAAGGT 0.617000 18 80 0 0 1 0 0 SPARC 6678 broad.mit.edu 37 5 151046004 151046004 + Missense_Mutation SNP G G A rs150910656 TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr5:151046004G>A ENST00000231061.4 - 8 965 c.652C>T c.(652-654)Cgg>Tgg p.R218W SPARC_ENST00000537849.1_5'UTR NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) 218 ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) TCGAAGTCCCGGGCCAGCAGC 0.562000 11 32 0 0 1 0 0 NEK6 10783 broad.mit.edu 37 9 127101893 127101893 + Silent SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr9:127101893C>T ENST00000373600.3 + 9 983 c.768C>T c.(766-768)aaC>aaT p.N256N NEK6_ENST00000373603.1_Silent_p.N222N|NEK6_ENST00000545174.1_Silent_p.N222N|NEK6_ENST00000540326.1_Silent_p.N240N|NEK6_ENST00000539416.1_Silent_p.N247N|NEK6_ENST00000394199.2_Silent_p.N256N|NEK6_ENST00000546191.1_Silent_p.N222N|NEK6_ENST00000320246.5_Silent_p.N222N NM_001145001.2 NP_001138473.1 Q9HC98 NEK6_HUMAN NIMA-related kinase 6 222 Protein kinase. apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 TCCATGAGAACGGCTACAACT 0.597000 15 125 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26581456 26581456 + Silent SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr10:26581456C>T ENST00000376261.3 + 14 1952 c.1449C>T c.(1447-1449)aaC>aaT p.N483N GAD2_ENST00000259271.3_Silent_p.N483N NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 483 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) ATTTATACAACATCATAAAAA 0.398000 12 72 0 0 1 0 0 CYTH3 9265 broad.mit.edu 37 7 6210474 6210474 + Missense_Mutation SNP T T A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr7:6210474T>A ENST00000350796.3 - 8 834 c.698A>T c.(697-699)gAg>gTg p.E233V CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.E148V NM_004227.3 NP_004218.1 O43739 CYH3_HUMAN cytohesin 3 233 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1) 19 CAGCAGCTCCTCAGGGAGGTC 0.682000 3 11 0 0 1 0 0 INCENP 3619 broad.mit.edu 37 11 61919432 61919432 + Missense_Mutation SNP G G T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr11:61919432G>T ENST00000394818.3 + 19 2943 c.2741G>T c.(2740-2742)aGc>aTc p.S914I INCENP_ENST00000278849.4_Missense_Mutation_p.S910I NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 914 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CTGGCCTACAGCCTGAAGAAG 0.617000 3 17 1 1 1 1 0 PKD1L1 168507 broad.mit.edu 37 7 47968939 47968939 + Silent SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr7:47968939G>A ENST00000289672.2 - 7 972 c.922C>T c.(922-924)Ctg>Ttg p.L308L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 308 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CGGAATCCCAGATTTGGAGGT 0.493000 23 93 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129104487 129104487 + Missense_Mutation SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr7:129104487G>A ENST00000249344.2 + 16 1724 c.1684G>A c.(1684-1686)Gat>Aat p.D562N STRIP2_ENST00000435494.2_Missense_Mutation_p.D562N NM_020704.2 NP_065755.1 striatin interacting protein 2 GCTGGGCATCGATGTGAACAG 0.483000 7 43 0 0 1 0 0 CHDH 55349 broad.mit.edu 37 3 53856587 53856587 + Silent SNP C C T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr3:53856587C>T ENST00000315251.6 - 4 1223 c.786G>A c.(784-786)gtG>gtA p.V262V NM_018397.4 NP_060867.2 Q8NE62 CHDH_HUMAN choline dehydrogenase alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) GCACCCTGCTCACAAGCGTCT 0.632000 4 26 0 0 1 0 0 IDO2 169355 broad.mit.edu 37 8 39871117 39871117 + Silent SNP G G T TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr8:39871117G>T ENST00000502986.2 + 10 1034 c.792G>T c.(790-792)ctG>ctT p.L264L IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Silent_p.L251L NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 251 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 CTGCAGGGCTGATGTATGAAG 0.493000 7 43 0.0581538 0.059916 1 1 0 DNAH6 1768 broad.mit.edu 37 2 84804389 84804389 + Missense_Mutation SNP T T G TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr2:84804389T>G ENST00000389394.3 + 13 2070 c.1933T>G c.(1933-1935)Ttt>Gtt p.F645V DNAH6_ENST00000237449.6_Missense_Mutation_p.F645V|DNAH6_ENST00000398278.2_Missense_Mutation_p.F645V NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 645 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 AGATATTAACTTTTTTAGTGA 0.303000 7 43 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10078713 10078713 + Missense_Mutation SNP G G A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr19:10078713G>A ENST00000264828.3 - 60 4442 c.4357C>T c.(4357-4359)Cca>Tca p.P1453S NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1453 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GCCACACCTGGGGGCCCAGGG 0.602000 9 30 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27107087 27107087 + Frame_Shift_Del DEL G G - TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr1:27107087delG ENST00000324856.7 + 20 7069 c.6698delG c.(6697-6699)cggfs p.R2233fs ARID1A_ENST00000457599.2_Frame_Shift_Del_p.R2016fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.R1850fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.R561fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2233 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.M2231fs*32(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ATGATGCGGCGGGCTGCCCGC 0.597 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 14 49 --- --- --- --- PPIG 9360 broad.mit.edu 37 2 170463658 170463659 + Splice_Site INS - - GTA TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr2:170463658_170463659insGTA ENST00000260970.3 + 6 509 c.289_289insGTA c.(289-291)gac>GTAgac p.96_97insV PPIG_ENST00000462903.1_Splice_Site_p.96_97insV|PPIG_ENST00000409714.3_Intron|PPIG_ENST00000448752.2_Splice_Site_p.96_97insV NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 96 PPIase cyclophilin-type. protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) ATTTTTTGAAGGTAAAAATGTT 0.277 26 96 --- --- --- --- FAM66D 100132923 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 10 51 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 057ec20e-1807-4200-ae7f-274e3e626c34 1c38f338-350a-4a3d-b5b5-36af84614603 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gaggcg>gcg p.E38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del NM_001284230.1 NP_001271159.1 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 3 5 --- --- --- ---