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 CYP4F11 57834 broad.mit.edu 37 19 16038119 16038119 + Missense_Mutation SNP T T C TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr19:16038119T>C ENST00000326742.7 - 4 429 c.428A>G c.(427-429)aAg>aGg p.K143R CYP4F11_ENST00000402119.3_Missense_Mutation_p.K143R|CYP4F11_ENST00000248041.7_Missense_Mutation_p.K143R Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 143 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GCGGCTCCACTTGTCACCACC 0.537000 69 73 0 0 0.003610 0 0 TTC27 55622 broad.mit.edu 37 2 33036256 33036256 + Missense_Mutation SNP G G A TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr2:33036256G>A ENST00000317907.4 + 17 2395 c.2164G>A c.(2164-2166)Ggg>Agg p.G722R NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 722 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 ATATGGAAATGGGCAGAGTGA 0.433000 13 16 0 0 0.001855 0 0 NAP1L1 4673 broad.mit.edu 37 12 76444373 76444373 + Missense_Mutation SNP G G A TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr12:76444373G>A ENST00000261182.8 - 12 1483 c.997C>T c.(997-999)Cgt>Tgt p.R333C NAP1L1_ENST00000547773.1_Missense_Mutation_p.R270C|NAP1L1_ENST00000544816.1_Missense_Mutation_p.R150C|NAP1L1_ENST00000542344.1_Missense_Mutation_p.R291C|NAP1L1_ENST00000535020.2_Missense_Mutation_p.R333C|NAP1L1_ENST00000431879.3_Missense_Mutation_p.R265C|NAP1L1_ENST00000393263.3_Missense_Mutation_p.R333C|NAP1L1_ENST00000547993.1_Missense_Mutation_p.R150C|NAP1L1_ENST00000548044.1_Missense_Mutation_p.R292C|NAP1L1_ENST00000549596.1_Missense_Mutation_p.R333C|NAP1L1_ENST00000552342.1_Missense_Mutation_p.R344C NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 333 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) GGGATTATACGCTCACGTAAA 0.343000 15 20 0 0 0.002450 0 0 CDK15 65061 broad.mit.edu 37 2 202744823 202744823 + Silent SNP C C T TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr2:202744823C>T ENST00000450471.2 + 12 1217 c.1131C>T c.(1129-1131)tcC>tcT p.S377S CDK15_ENST00000410091.3_Silent_p.S326S|CDK15_ENST00000260967.2_Silent_p.S326S|CDK15_ENST00000374598.4_Silent_p.S377S|CDK15_ENST00000434439.1_Silent_p.S377S NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 377 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) ACCGCGTCTCCGCCCAGGAAG 0.552000 7 65 0 0 0.003080 0 0 U2AF2 11338 broad.mit.edu 37 19 56166505 56166505 + Missense_Mutation SNP A A G TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr19:56166505A>G ENST00000450554.2 + 1 994 c.35A>G c.(34-36)aAc>aGc p.N12S U2AF2_ENST00000308924.4_Missense_Mutation_p.N12S NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 12 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CGGCAGCTCAACGAGAATAAA 0.682000 8 34 0 0 0.006214 0 0 FZD8 8325 broad.mit.edu 37 10 35929590 35929590 + Missense_Mutation SNP C C A TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr10:35929590C>A ENST00000374694.1 - 1 772 c.768G>T c.(766-768)caG>caT p.Q256H NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 256 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 AGTTAGCGATCTGGCCTGTCT 0.682000 26 23 3.28513e-13 4.46777e-13 0.003954 1 0 HNRNPDL 9987 broad.mit.edu 37 4 83350530 83350530 + Missense_Mutation SNP G G A TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr4:83350530G>A ENST00000295470.5 - 1 489 c.314C>T c.(313-315)aCc>aTc p.T105I HNRNPDL_ENST00000349655.4_5'UTR|HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.T105I NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like CGCAGTCCGGGTCGCGGCAGC 0.622000 19 59 0 0 0.006122 0 0 ZNRF3 84133 broad.mit.edu 37 22 29445437 29445437 + Missense_Mutation SNP A A G TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr22:29445437A>G ENST00000544604.2 + 8 1443 c.1268A>G c.(1267-1269)cAc>cGc p.H423R ZNRF3_ENST00000332811.4_Missense_Mutation_p.H323R|ZNRF3_ENST00000402174.1_Missense_Mutation_p.H323R|ZNRF3_ENST00000406323.3_Missense_Mutation_p.H323R NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 423 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CCACCCCTCCACCTGGACCAC 0.697000 20 37 0 0 0.003330 0 0 THAP7 80764 broad.mit.edu 37 22 21356155 21356155 + Missense_Mutation SNP G G A TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr22:21356155G>A ENST00000215742.4 - 1 220 c.46C>T c.(46-48)Cgc>Tgc p.R16C THAP7_ENST00000399133.2_Missense_Mutation_p.R16C NM_030573.2 NP_085050.2 Q9BT49 THAP7_HUMAN THAP domain containing 7 16 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1) 8 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CGCGTCTCGCGCGTGTCCCGT 0.697000 4 2 0 0 0.000602 0 0 ATM 472 broad.mit.edu 37 11 108190727 108190727 + Missense_Mutation SNP C C G TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr11:108190727C>G ENST00000278616.4 + 44 6779 c.6394C>G c.(6394-6396)Cta>Gta p.L2132V ATM_ENST00000452508.2_Missense_Mutation_p.L2132V|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2132 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTACAATGCTCTACAATCTCT 0.299000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 29 50 0 0 0.001786 0 0 BTBD10 84280 broad.mit.edu 37 11 13441034 13441034 + Missense_Mutation SNP G G A TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr11:13441034G>A ENST00000278174.5 - 4 802 c.557C>T c.(556-558)aCt>aTt p.T186I BTBD10_ENST00000530907.1_Missense_Mutation_p.T194I|BTBD10_ENST00000528120.1_Missense_Mutation_p.T138I NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 186 BTB. nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) TGGCTGTGCAGTAAAAATGGA 0.333000 3 55 0 0 0.004672 0 0 PRICKLE4 29964 broad.mit.edu 37 6 41754716 41754716 + Missense_Mutation SNP A A G TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr6:41754716A>G ENST00000458694.1 + 8 1252 c.1004A>G c.(1003-1005)aAg>aGg p.K335R PRICKLE4_ENST00000394260.1_Missense_Mutation_p.K295R|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.K335R NM_013397.5 NP_037529.3 Q2TBC4 PRIC4_HUMAN prickle homolog 4 (Drosophila) 295 nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 13 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CGTGATCCCAAGGACACCCCT 0.607000 OREG0017435 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 165 0 0 0.000602 0 0 CDH19 28513 broad.mit.edu 37 18 64197108 64197108 + Missense_Mutation SNP C C T TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr18:64197108C>T ENST00000262150.2 - 9 1724 c.1432G>A c.(1432-1434)Gtt>Att p.V478I CDH19_ENST00000540086.1_Missense_Mutation_p.V478I NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 478 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TTTTCACAAACATAAGTCTCA 0.328000 27 27 0 0 0.002445 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110033986 110033986 + Missense_Mutation SNP C C G TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr1:110033986C>G ENST00000369870.3 + 10 1816 c.1801C>G c.(1801-1803)Ctc>Gtc p.L601V ATXN7L2_ENST00000459635.1_3'UTR NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 601 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) CTGTAGGGGCCTCTCGGCCAA 0.592000 37 54 0 0 0.003755 0 0 LCMT1 51451 broad.mit.edu 37 16 25182127 25182127 + Splice_Site SNP G G A TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr16:25182127G>A ENST00000399069.3 + 9 1039 c.e9+1 LCMT1_ENST00000380966.4_Splice_Site|LCMT1_ENST00000572869.1_Intron NM_016309.2 NP_057393.2 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) AAGTGAGCAGGTATGGGGTTG 0.473000 32 54 0 0 0.002096 0 0 CNKSR1 10256 broad.mit.edu 37 1 26507021 26507021 + Missense_Mutation SNP C C G TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr1:26507021C>G ENST00000361530.6 + 2 275 c.130C>G c.(130-132)Caa>Gaa p.Q44E CNKSR1_ENST00000374253.5_Missense_Mutation_p.Q44E|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 44 SAM. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) GCTCTGCCCCCAAAGCCTCGA 0.622000 7 93 0 0 0.003080 0 0 EPG5 57724 broad.mit.edu 37 18 43519707 43519707 + Missense_Mutation SNP T T C TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr18:43519707T>C ENST00000282041.5 - 10 1992 c.1958A>G c.(1957-1959)tAt>tGt p.Y653C NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 653 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 GTCACTTACATAACCAAGAGT 0.388000 9 25 0 0 0.004482 0 0 KCNH2 3757 broad.mit.edu 37 7 150648922 150648922 + Splice_Site SNP A A G TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr7:150648922A>G ENST00000392968.2 - 5 2391 c.1269_splice c.e5-1 p.L424_splice KCNH2_ENST00000430723.3_Splice_Site_p.L520_splice|KCNH2_ENST00000262186.5_Splice_Site_p.L520_splice|KCNH2_ENST00000330883.4_Splice_Site_p.L180_splice Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 520 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CAGCCCGATCAGCTGGGGGAC 0.667000 3 37 0 0 0.004672 0 0 CCPG1 9236 broad.mit.edu 37 15 55664157 55664157 + Silent SNP A A G TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr15:55664157A>G ENST00000310958.6 - 6 838 c.540T>C c.(538-540)gcT>gcC p.A180A CCPG1_ENST00000425574.3_Silent_p.A180A|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Silent_p.A180A|CCPG1_ENST00000569205.1_Silent_p.A180A NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 180 Interaction with MCF2L and SRC (By similarity).|Poly-Arg. cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) TCTTCTTCCTAGCACGGCGTC 0.433000 3 46 0 0 0.000248 0 0 MAP1A 4130 broad.mit.edu 37 15 43815344 43815344 + Missense_Mutation SNP C C G TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr15:43815344C>G ENST00000382031.1 + 5 2418 c.2387C>G c.(2386-2388)cCa>cGa p.P796R MAP1A_ENST00000399453.1_Missense_Mutation_p.P558R|MAP1A_ENST00000300231.5_Missense_Mutation_p.P558R P78559 MAP1A_HUMAN microtubule-associated protein 1A 558 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GGAGATAAGCCATTCCCTCTA 0.537000 53 48 0 0 0.003610 0 0 OR11H12 440153 broad.mit.edu 37 14 19378084 19378084 + Missense_Mutation SNP G G T TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr14:19378084G>T ENST00000550708.1 + 1 563 c.491G>T c.(490-492)tGg>tTg p.W164L NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATACTGTGCTGGGTTTGTGGA 0.488000 19 123 3.83957e-06 5.11943e-06 0.002780 1 0 CCDC39 339829 broad.mit.edu 37 3 180381672 180381672 + Missense_Mutation SNP C C G TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr3:180381672C>G ENST00000273654.4 - 8 1064 c.445G>C c.(445-447)Gag>Cag p.E149Q CCDC39_ENST00000442201.2_Missense_Mutation_p.E65Q Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 65 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATTGAGAGCTCTTGCTTAACA 0.353000 15 44 0 0 0.003163 0 0 NIPSNAP3A 25934 broad.mit.edu 37 9 107510105 107510105 + Missense_Mutation SNP C C T TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr9:107510105C>T ENST00000374767.4 + 1 137 c.32C>T c.(31-33)gCg>gTg p.A11V NM_015469.1 NP_056284.1 nipsnap homolog 3A (C. elegans) autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 8 CTGACTCGGGCGCTGGCCTCA 0.682000 6 15 0 0 0.001984 0 0 CSNK1G3 1456 broad.mit.edu 37 5 122881412 122881412 + Missense_Mutation SNP A A G TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr5:122881412A>G ENST00000395412.1 + 2 774 c.55A>G c.(55-57)Agt>Ggt p.S19G CSNK1G3_ENST00000360683.2_Missense_Mutation_p.S19G|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.S19G|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.S19G|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.S19G|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.S19G|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.S19G NM_001044723.1 NP_001038188.1 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 19 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1) 15 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) GGCACGACCTAGTGGTCGATC 0.403000 3 26 0 0 0.004672 0 0 MUC17 140453 broad.mit.edu 37 7 100679804 100679804 + Missense_Mutation SNP G G A rs71525815 TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr7:100679804G>A ENST00000306151.4 + 3 5171 c.5107G>A c.(5107-5109)Gcc>Acc p.A1703T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1703 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACACCGGTGGCCAGCTCTGC 0.478000 23 289 0 0 0.006320 0 0 DDX60L 91351 broad.mit.edu 37 4 169374416 169374416 + Silent SNP T T C TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr4:169374416T>C ENST00000511577.1 - 8 1102 c.855A>G c.(853-855)ctA>ctG p.L285L DDX60L_ENST00000260184.7_Silent_p.L285L|DDX60L_ENST00000505890.1_Silent_p.L285L Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 285 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CCTGCAGGGATAGGCAATTAC 0.463000 11 16 0 0 0.001855 0 0 TCEA3 6920 broad.mit.edu 37 1 23743819 23743819 + Silent SNP T T C TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr1:23743819T>C ENST00000450454.2 - 4 409 c.303A>G c.(301-303)aaA>aaG p.K101K TCEA3_ENST00000461794.1_Silent_p.K64K|TCEA3_ENST00000374601.3_Silent_p.K101K NM_003196.1 NP_003187.1 O75764 TCEA3_HUMAN transcription elongation factor A (SII), 3 101 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) ACTCAAGccctttttccttct 0.473000 3 123 0 0 0.004672 0 0 ATXN2 6311 broad.mit.edu 37 12 111893961 111893961 + Missense_Mutation SNP T T A TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr12:111893961T>A ENST00000377617.3 - 23 3777 c.3616A>T c.(3616-3618)Aca>Tca p.T1206S ATXN2_ENST00000542287.2_Missense_Mutation_p.T941S|ATXN2_ENST00000535949.1_Missense_Mutation_p.T899S|ATXN2_ENST00000389153.4_Missense_Mutation_p.T943S|ATXN2_ENST00000550104.1_3'UTR NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 1206 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 GAGGCAGGTGTCATGGAGGGT 0.587000 98 126 0 0 0.003610 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 5 22 0 0 0.001168 0 0 C19orf35 374872 broad.mit.edu 37 19 2276472 2276472 + Missense_Mutation SNP G G A TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr19:2276472G>A ENST00000342063.3 - 4 722 c.629C>T c.(628-630)gCg>gTg p.A210V NM_198532.2 NP_940934.1 Q6ZS72 CS035_HUMAN chromosome 19 open reading frame 35 210 p.A210E(1) large_intestine(1)|lung(5)|pancreas(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCACGTCCGCCCCGGGCTT 0.706000 4 22 0 0 0.000248 0 0 AC008103.5 0 broad.mit.edu 37 22 18846113 18846113 + RNA SNP C C T TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr22:18846113C>T ENST00000412938.1 + 0 3471 ATCTCCTCCACGCACTGGCGC 0.612000 4 21 0 0 0.000248 0 0 ZNF532 55205 broad.mit.edu 37 18 56587101 56587101 + Missense_Mutation SNP A A T TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr18:56587101A>T ENST00000336078.4 + 4 2358 c.1582A>T c.(1582-1584)Aac>Tac p.N528Y ZNF532_ENST00000591230.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000591083.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000589288.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000591808.1_Missense_Mutation_p.N528Y NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 528 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 TGCCAACCTTAACCTTTTGCC 0.542000 4 45 0 0 0.000602 0 0 CARS 833 broad.mit.edu 37 11 3023813 3023813 + Silent SNP C C T TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr11:3023813C>T ENST00000397114.3 - 21 2332 c.1956G>A c.(1954-1956)agG>agA p.R652R CARS_ENST00000470221.2_Intron|CARS_ENST00000401769.3_Silent_p.R675R|CARS_ENST00000278224.9_Silent_p.R662R|CARS_ENST00000380525.4_Silent_p.R745R|CARS_ENST00000397111.5_Silent_p.R662R P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 662 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) CTTTCTTCTTCCTCTTCTCCT 0.557000 T ALK ALCL 46 235 0 0 0.003610 0 0 PABPC1 26986 broad.mit.edu 37 8 101719214 101719214 + Missense_Mutation SNP T T C TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr8:101719214T>C ENST00000318607.5 - 10 2476 c.1348A>G c.(1348-1350)Atg>Gtg p.M450V PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.M405V|PABPC1_ENST00000522387.1_Missense_Mutation_p.M418V NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 450 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) GCACCGGGCATATTTTGGAAT 0.438000 3 48 0 0 0.004672 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1949958 1949958 + Missense_Mutation SNP G G A TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr12:1949958G>A ENST00000382722.5 - 26 2860 c.2498C>T c.(2497-2499)aCg>aTg p.T833M CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T808M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T694M|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T769M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T833M|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T769M NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 833 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TGTGCTTGCCGTCACCACCAT 0.597000 37 37 0 0 0.006230 0 0 SDAD1 55153 broad.mit.edu 37 4 76886950 76886950 + Silent SNP A A G TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr4:76886950A>G ENST00000356260.5 - 13 1189 c.1071T>C c.(1069-1071)gcT>gcC p.A357A SDAD1_ENST00000395711.4_Silent_p.A320A|SDAD1_ENST00000513089.1_5'UTR NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 357 protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ATGCTTGTGCAGCAAACAGAA 0.473000 29 79 0 0 0.001786 0 0 NLRP8 126205 broad.mit.edu 37 19 56467090 56467090 + Missense_Mutation SNP G G A TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr19:56467090G>A ENST00000291971.3 + 3 1737 c.1666G>A c.(1666-1668)Gga>Aga p.G556R NLRP8_ENST00000590542.1_Missense_Mutation_p.G556R NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 556 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTCTCACATGGGACTTTTCTT 0.463000 31 37 0 0 0.002445 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114417 27114417 + Missense_Mutation SNP C C T TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr6:27114417C>T ENST00000396891.4 - 1 202 c.161G>A c.(160-162)gGc>gAc p.G54D HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G54D NM_080593.2 NP_542160.1 O60814 H2B1K_HUMAN histone cluster 1, H2bk 54 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 AGAGGAGATGCCGGTGTCGGG 0.582000 5 214 0 0 0.000602 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 14 23 0 0 0.003163 0 0 SULF2 55959 broad.mit.edu 37 20 46290580 46290580 + Missense_Mutation SNP T T A TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr20:46290580T>A ENST00000359930.4 - 18 3282 c.2431A>T c.(2431-2433)Atg>Ttg p.M811L SULF2_ENST00000484875.1_Missense_Mutation_p.M811L|SULF2_ENST00000467815.1_Missense_Mutation_p.M811L|SULF2_ENST00000361612.4_Missense_Mutation_p.M811L NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 811 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CTCAGCTCCATGAGCTGTACG 0.532000 51 59 0 0 0.003610 0 0 DNAH3 55567 broad.mit.edu 37 16 20975172 20975172 + Missense_Mutation SNP C C T TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr16:20975172C>T ENST00000261383.3 - 53 10033 c.10034G>A c.(10033-10035)cGc>cAc p.R3345H DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3345 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GTACTTGATGCGCAGATTCAG 0.488000 52 86 0 0 0.003610 0 0 PKP4 8502 broad.mit.edu 37 2 159519930 159519930 + Silent SNP C C T TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr2:159519930C>T ENST00000389757.3 + 15 2675 c.2550C>T c.(2548-2550)ctC>ctT p.L850L AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.L850L|PKP4_ENST00000495123.1_3'UTR NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 850 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 CAGGGTCTCTCCAGAACCTCT 0.453000 HNSCC(62;0.18) 19 29 0 0 0.001882 0 0 CDH23 64072 broad.mit.edu 37 10 73537998 73537998 + Missense_Mutation SNP A A G TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr10:73537998A>G ENST00000224721.6 + 39 5140 c.5135A>G c.(5134-5136)tAc>tGc p.Y1712C NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1707 Cadherin 16. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CACGGCCGCTACACCCTGATC 0.607000 5 60 0 0 0.000602 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45693947 45693947 + Frame_Shift_Del DEL T T - TCGA-EM-A22O-01A-11D-A17V-08 TCGA-EM-A22O-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13642cf8-9840-4a7d-a26a-95f65b2c70c3 ea378b05-b95e-468d-b026-5a3b783795dc g.chr14:45693947delT ENST00000310806.4 - 11 2301 c.1843delA c.(1843-1845)cafs p.T616fs NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 616 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 TCTTCAGTTGTCTCTTTAATT 0.294 25 19 --- --- --- ---