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 ZNF266 0 broad.mit.edu 37 19 9526349 9526349 + Missense_Mutation SNP G G A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr19:9526349G>A ENST00000592904.1 - 4 2261 c.185C>T c.(184-186)aCc>aTc p.T62I ZNF266_ENST00000361151.1_Missense_Mutation_p.T62I|ZNF266_ENST00000590306.1_Missense_Mutation_p.T62I|ZNF266_ENST00000588221.1_Missense_Mutation_p.T62I|ZNF266_ENST00000592292.1_Missense_Mutation_p.T62I|ZNF266_ENST00000588933.1_Missense_Mutation_p.T62I|ZNF266_ENST00000361451.2_Missense_Mutation_p.T62I Q14584 ZN266_HUMAN zinc finger protein 266 62 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1) 28 CCCACTGGAGGTTGGCTCCCC 0.388000 6 44 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150946296 150946296 + Missense_Mutation SNP G G A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr5:150946296G>A ENST00000261800.5 - 1 2209 c.2197C>T c.(2197-2199)Ccc>Tcc p.P733S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 733 Cadherin 6. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGGGCCAAGGGGGTGTTGATA 0.483000 62 84 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125900205 125900205 + Missense_Mutation SNP G G A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr12:125900205G>A ENST00000299308.3 + 3 1081 c.1073G>A c.(1072-1074)cGc>cAc p.R358H NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 358 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ATGGGCCATCGCCCGGACACG 0.592000 16 69 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10941933 10941933 + Missense_Mutation SNP T T C TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr21:10941933T>C ENST00000298232.7 - 13 1083 c.716A>G c.(715-717)cAg>cGg p.Q239R TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.Q219R|TPTE_ENST00000361285.4_Missense_Mutation_p.Q257R NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 257 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATAGAAAGACTGCCTTCCAGA 0.308000 28 108 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202719900 202719900 + Nonsense_Mutation SNP G G A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr1:202719900G>A ENST00000367265.3 - 13 2872 c.1708C>T c.(1708-1710)Cga>Tga p.R570* KDM5B_ENST00000367264.2_Nonsense_Mutation_p.R606* NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 570 JmjC. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TGATTAGTTCGGTAAACCTAA 0.358000 40 40 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48420003 48420003 + Missense_Mutation SNP G G A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr3:48420003G>A ENST00000296438.5 + 6 788 c.602G>A c.(601-603)gGc>gAc p.G201D FBXW12_ENST00000415155.1_Intron|FBXW12_ENST00000436231.1_Missense_Mutation_p.G44D|FBXW12_ENST00000445170.1_Missense_Mutation_p.G182D NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 201 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACAAAGGATGGCCCATTCCTG 0.483000 3 23 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542654 14542654 + Silent SNP C C A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr18:14542654C>A ENST00000358970.5 - 1 491 c.492G>T c.(490-492)acG>acT p.T164T POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 164 p.T164T(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGTTCATGTCCGTGTCCCTGA 0.592000 4 192 0.00909568 0.00951873 1 1 0 TLR9 54106 broad.mit.edu 37 3 52257400 52257400 + Missense_Mutation SNP C C T rs141692865 byFrequency TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr3:52257400C>T ENST00000597542.1 - 9 1961 c.1004G>A c.(1003-1005)cGa>cAa p.R335Q TLR9_ENST00000494383.1_Silent_p.P464P|TLR9_ENST00000360658.2_Missense_Mutation_p.R311Q Q9NR96 TLR9_HUMAN toll-like receptor 9 311 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GTCCAGCACTCGGAGGTTTCC 0.532000 22 79 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227662776 227662776 + Missense_Mutation SNP G G A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr2:227662776G>A ENST00000305123.4 - 1 1699 c.679C>T c.(679-681)Cgt>Tgt p.R227C NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 227 IRS-type PTB. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) ACGGCAGAACGGCCCACCTCG 0.617000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 135 0 0 1 0 0 STEAP1 26872 broad.mit.edu 37 7 89790617 89790617 + Missense_Mutation SNP T T A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr7:89790617T>A ENST00000297205.2 + 3 783 c.583T>A c.(583-585)Tgg>Agg p.W195R STEAP2-AS1_ENST00000478318.2_RNA NM_012449.2 NP_036581.1 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the prostate 1 195 Ferric oxidoreductase. electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) GTTGCTAAACTGGGCATATCA 0.363000 5 34 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 3 30 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152497171 152497171 + Missense_Mutation SNP T T C TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr2:152497171T>C ENST00000397345.3 - 61 8585 c.8383A>G c.(8383-8385)Aaa>Gaa p.K2795E NEB_ENST00000604864.1_Missense_Mutation_p.K2795E|NEB_ENST00000409198.1_Missense_Mutation_p.K2795E|NEB_ENST00000427231.2_Missense_Mutation_p.K2795E|NEB_ENST00000172853.10_Missense_Mutation_p.K2795E|NEB_ENST00000603639.1_Missense_Mutation_p.K2795E NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2795 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TAGCCTTCTTTGTACTTGAAC 0.403000 73 83 0 0 1 0 0 RAD52 5893 broad.mit.edu 37 12 1023182 1023182 + Nonsense_Mutation SNP A A T TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr12:1023182A>T ENST00000358495.3 - 11 1211 c.1073T>A c.(1072-1074)tTa>tAa p.L358* RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000430095.2_Nonsense_Mutation_p.L358*|RAD52_ENST00000539046.1_Nonsense_Mutation_p.L281* NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 358 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) GTTCAAGGCTAATGTGTCAGA 0.522000 Homologous recombination 15 100 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 4 71 0 0 1 0 0 PCDHA5 0 broad.mit.edu 37 5 140201485 140201485 + Missense_Mutation SNP C C A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr5:140201485C>A ENST00000529859.1 + 1 125 c.125C>A c.(124-126)aCc>aAc p.T42N PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.T42N|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.T42N|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAACACGGAACCTTCGTTGGC 0.677000 24 101 1.22574e-08 1.31329e-08 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 29 26 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39914694 39914694 + Missense_Mutation SNP C C T TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr17:39914694C>T ENST00000393931.3 - 10 1848 c.1730G>A c.(1729-1731)cGc>cAc p.R577H JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.R577H|JUP_ENST00000310706.5_Missense_Mutation_p.R577H NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 577 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GATCTCCATGCGGTTCATGGG 0.622000 35 61 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48809142 48809142 + Missense_Mutation SNP C C A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr2:48809142C>A ENST00000309835.3 + 1 1380 c.1370C>A c.(1369-1371)aCc>aAc p.T457N STON1_ENST00000406226.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T457N|STON1_ENST00000404752.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T457N 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) TGCTTTTTAACCTTGAATGAC 0.373000 52 76 6.3008e-33 6.91552e-33 1 1 0 ZNF33B 7582 broad.mit.edu 37 10 43089024 43089024 + Silent SNP T T C rs140001885 TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr10:43089024T>C ENST00000359467.3 - 5 1488 c.1374A>G c.(1372-1374)gtA>gtG p.V458V ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 458 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 TTCTCTGGTGTACTGTAAGGT 0.403000 3 66 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685210 248685210 + Missense_Mutation SNP A A T TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr1:248685210A>T ENST00000343414.4 + 1 295 c.263A>T c.(262-264)aAa>aTa p.K88I NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGAATAAGAAAGACAAAACC 0.517000 39 90 0 0 1 0 0 CXCL13 10563 broad.mit.edu 37 4 78528958 78528958 + Missense_Mutation SNP C C T rs150188610 by1000genomes TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr4:78528958C>T ENST00000286758.4 + 3 244 c.166C>T c.(166-168)Cgt>Tgt p.R56C NM_006419.2 NP_006410.1 O43927 CXL13_HUMAN chemokine (C-X-C motif) ligand 13 56 activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1) 4 AATCTTGCCCCGTGGGAATGG 0.383000 13 58 0 0 1 0 0 THRA 7067 broad.mit.edu 37 17 38240101 38240101 + Missense_Mutation SNP G G A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr17:38240101G>A ENST00000450525.2 + 5 727 c.236G>A c.(235-237)cGc>cAc p.R79H THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 79 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.R79H(2) endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) TTCTTTCGCCGCACAATCCAG 0.547000 4 128 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52742281 52742281 + RNA SNP A A C TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr13:52742281A>C ENST00000451298.1 - 0 3358 RP11-64P12.8_ENST00000606031.1_RNA AAGGGCTCAGAGAACTGACCC 0.522000 8 31 0 0 1 0 0 IGHG4 0 broad.mit.edu 37 14 106091309 106091309 + RNA SNP G G A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr14:106091309G>A ENST00000390543.2 - 0 584 ACTCCTTGCCGTTCAGCCAGT 0.592000 6 645 0 0 1 0 0 SYT7 9066 broad.mit.edu 37 11 61295549 61295549 + Missense_Mutation SNP C C T rs382505 TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr11:61295549C>T ENST00000263846.4 - 5 787 c.460G>A c.(460-462)Gtg>Atg p.V154M SYT7_ENST00000535826.1_Missense_Mutation_p.V273M|SYT7_ENST00000542836.1_Missense_Mutation_p.V198M|SYT7_ENST00000542670.1_Missense_Mutation_p.V362M|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000540677.1_Missense_Mutation_p.V229M|SYT7_ENST00000539008.1_Missense_Mutation_p.V437M NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 154 C2 1. V -> L (in Ref. 1; AAB92667). cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 ATGATCTTCACGGTGAGCGTG 0.612000 23 116 0 0 1 0 0 NR5A2 2494 broad.mit.edu 37 1 200017321 200017321 + Missense_Mutation SNP G G A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr1:200017321G>A ENST00000367362.3 + 5 731 c.485G>A c.(484-486)cGt>cAt p.R162H NR5A2_ENST00000236914.3_Missense_Mutation_p.R116H|NR5A2_ENST00000544748.1_Missense_Mutation_p.R90H NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 162 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) GACCGAATGCGTGGAGGAAGG 0.478000 14 108 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68607922 68607922 + Missense_Mutation SNP G G C TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr2:68607922G>C ENST00000234313.7 + 3 445 c.266G>C c.(265-267)aGa>aCa p.R89T NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 89 PH 1. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) CTGGAGGAGAGAGATGCCTGG 0.468000 9 162 0 0 1 0 0 WASH2P 0 broad.mit.edu 37 2 114356239 114356239 + RNA SNP T T C TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr2:114356239T>C ENST00000538033.2 + 0 2419 CCTTTGCCCGTGTGTCAGACT 0.642000 4 2 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131797917 131797917 + Silent SNP C C A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr2:131797917C>A ENST00000392953.3 + 8 1527 c.1008C>A c.(1006-1008)atC>atA p.I336I ARHGEF4_ENST00000326016.5_Silent_p.I336I|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000525839.1_Silent_p.I336I|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Silent_p.I265I NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 336 DH. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) TCGAGGACATCTACCGCTGCC 0.642000 12 25 0.0931896 0.0953075 1 1 0 KIAA1109 84162 broad.mit.edu 37 4 123166209 123166209 + Nonsense_Mutation SNP C C T TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr4:123166209C>T ENST00000264501.4 + 32 5324 c.4951C>T c.(4951-4953)Cga>Tga p.R1651* KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.R1651*|KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.R1651* Q2LD37 K1109_HUMAN KIAA1109 1651 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TGCTAGTACCCGACATCCAGC 0.343000 20 57 0 0 1 0 0 KLF14 136259 broad.mit.edu 37 7 130418098 130418098 + Missense_Mutation SNP A A C TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr7:130418098A>C ENST00000310992.4 - 1 790 c.763T>G c.(763-765)Ttc>Gtc p.F255V NM_138693.2 NP_619638.1 Q8TD94 KLF14_HUMAN Kruppel-like factor 14 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(18;0.0435) GGGCAGGAGAAGCGCTTCTCG 0.622000 8 17 0 0 1 0 0 ARSE 415 broad.mit.edu 37 X 2853194 2853194 + Silent SNP C C A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chrX:2853194C>A ENST00000545496.1 - 12 1815 c.1524G>T c.(1522-1524)gtG>gtT p.V508V ARSE_ENST00000540563.1_Silent_p.V438V|ARSE_ENST00000381134.3_Silent_p.V483V P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 483 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTGGCTGGAACACAGGCGTCA 0.507000 3 20 0.115264 0.115264 1 1 0 GOLGA6L6 727832 broad.mit.edu 37 15 20743796 20743796 + Silent SNP C C T TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr15:20743796C>T ENST00000427390.2 - 4 498 c.408G>A c.(406-408)acG>acA p.T136T NM_001145004.1 NP_001138476.1 A8MZA4 GG6L6_HUMAN golgin A6 family-like 6 136 p.T136T(1) NS(3)|endometrium(4)|kidney(1)|skin(3) 11 TTTTCTGACACGTAAGGATTC 0.493000 4 62 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791719 42791719 + Missense_Mutation SNP G G A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr19:42791719G>A ENST00000572681.2 + 6 3400 c.3332G>A c.(3331-3333)cGg>cAg p.R1111Q CIC_ENST00000160740.3_Missense_Mutation_p.R202Q|CIC_ENST00000575354.2_Missense_Mutation_p.R202Q Q96RK0 CIC_HUMAN capicua transcriptional repressor 202 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CACATCCGGCGGCCCATGAAT 0.627000 """Mis, F, S""" oligodendroglioma 27 63 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9082770 9082770 + Silent SNP A A G TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr19:9082770A>G ENST00000397910.4 - 1 9248 c.9045T>C c.(9043-9045)acT>acC p.T3015T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3016 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGCTGAAGAGAGTTGTGAGTT 0.493000 24 92 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31374553 31374553 + Missense_Mutation SNP C C T TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr16:31374553C>T ENST00000268296.4 + 14 1689 c.1568C>T c.(1567-1569)gCg>gTg p.A523V ITGAX_ENST00000562522.1_Missense_Mutation_p.A523V NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 523 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CGCTTTGGGGCGGCTCTGACA 0.617000 43 208 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 5 58 0 0 1 0 0 PARP16 54956 broad.mit.edu 37 15 65551839 65551839 + Missense_Mutation SNP G G A TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr15:65551839G>A ENST00000261888.6 - 6 1323 c.878C>T c.(877-879)aCc>aTc p.T293I PARP16_ENST00000444347.2_Missense_Mutation_p.T177I NM_017851.4 NP_060321.3 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 292 integral to membrane NAD+ ADP-ribosyltransferase activity kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 TATCATGACGGTAAACCAATG 0.428000 4 161 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29113369 29113369 + RNA SNP G G C TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr16:29113369G>C ENST00000564580.1 + 0 1269 GATGCTGCCAGTCATTAGGAG 0.488000 9 50 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16945144 16945145 + RNA INS - - A rs71270820 TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr1:16945144_16945145insA ENST00000412962.1 - 0 2374_2375 ctgttaaaaGCAGACAATACTG 0.272 2 4 --- --- --- --- WNT8A 7478 broad.mit.edu 37 5 137424684 137424685 + Frame_Shift_Del DEL TT TT - TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr5:137424684_137424685delTT ENST00000506684.1 + 4 726_727 c.490_491delTT c.(490-492)tfs p.F164fs WNT8A_ENST00000398754.1_Frame_Shift_Del_p.F146fs Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, member 8A 146 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTCCAAACTCTTTGTGGACAGT 0.510 19 175 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 5 5 --- --- --- --- HERC2P9 0 broad.mit.edu 37 15 28927411 28927415 + RNA DEL AGGGA AGGGA - TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr15:28927411_28927415delAGGGA ENST00000528584.1 + 0 1811 NR_036443.1 GTTTAAAAATagggaagggaaggga 0.463 2 4 --- --- --- --- CASKIN1 57524 broad.mit.edu 37 16 2246363 2246364 + Frame_Shift_Del DEL TG TG - TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr16:2246363_2246364delTG ENST00000343516.6 - 1 162_163 c.70_71delCA c.(70-72)gfs p.Q24fs NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 24 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 CCGCGGCCTCTGCAGCAGCCTC 0.812 2 4 --- --- --- --- LRRC37A2 474170 broad.mit.edu 37 17 44630803 44630812 + Frame_Shift_Del DEL AAGGATTCTC AAGGATTCTC - TCGA-DB-A64P-01A-11D-A29Q-08 TCGA-DB-A64P-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5864a37b-dfec-475c-95f4-2426c8e2772c 0bb265d4-0ce6-4374-890c-3f9e096dab5e g.chr17:44630803_44630812delAAGGATTCTC ENST00000576629.1 + 12 5342_5351 c.4847_4856delAAGGATTCTC c.(4846-4857)gafs p.EGFS1616fs ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Frame_Shift_Del_p.EGFS1616fs|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000329240.4_Intron A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 1616 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) GAAGATGAAGAAGGATTCTCAAGGTAAATA 0.395 22 76 --- --- --- ---