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 AGPAT9 84803 broad.mit.edu 37 4 84465712 84465712 + Silent SNP A A G TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr4:84465712A>G ENST00000395226.2 + 3 383 c.165A>G c.(163-165)aaA>aaG p.K55K AGPAT9_ENST00000264409.4_Silent_p.K55K NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 55 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) GAATTGAAAAAGGAACCCCAA 0.343000 3 185 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121000902 121000902 + Missense_Mutation SNP C C T rs138696978 TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr11:121000902C>T ENST00000392793.1 + 10 3194 c.2923C>T c.(2923-2925)Cgg>Tgg p.R975W TECTA_ENST00000264037.2_Missense_Mutation_p.R975W O75443 TECTA_HUMAN tectorin alpha 975 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGGGCCCTGGCGGACCTATGA 0.597000 3 97 0 0 1 0 0 RP11-467H10.2 0 broad.mit.edu 37 7 76681226 76681226 + RNA SNP G G C TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr7:76681226G>C ENST00000459742.1 + 0 58 TGTCACACTTGAAGGAGGCAG 0.453000 2 11 0 0 1 0 0 NPM3 10360 broad.mit.edu 37 10 103542065 103542065 + Missense_Mutation SNP C C A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr10:103542065C>A ENST00000370110.5 - 4 390 c.368G>T c.(367-369)cGc>cTc p.R123L NPM3_ENST00000474993.1_5'UTR NM_006993.2 NP_008924.1 O75607 NPM3_HUMAN nucleophosmin/nucleoplasmin 3 123 nucleic acid binding large_intestine(3)|lung(1)|skin(1) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) CGACTTCAGGCGGAAGGTTAC 0.602000 7 29 0.000274275 0.000301703 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16945358 16945358 + RNA SNP G G C rs945905 by1000genomes TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr1:16945358G>C ENST00000412962.1 - 0 2161 AGTAGGAGAAGAGAGAGGAAG 0.567000 3 12 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155263298 155263298 + Silent SNP G G A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr1:155263298G>A ENST00000392414.3 - 8 1220 c.1107C>T c.(1105-1107)gaC>gaT p.D369D PKLR_ENST00000342741.4_Silent_p.D400D NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 400 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GCATGATGCAGTCAGCCCCAT 0.582000 3 71 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 3 22 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25310192 25310192 + RNA SNP C C A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr15:25310192C>A ENST00000549804.2 + 0 538 SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA ATGAGTCCTCCAAAAAAAACA 0.478000 5 187 0.014758 0.0158378 1 1 0 CDH24 64403 broad.mit.edu 37 14 23523469 23523469 + Missense_Mutation SNP C C T TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr14:23523469C>T ENST00000397359.3 - 6 1112 c.853G>A c.(853-855)Gac>Aac p.D285N CDH24_ENST00000487137.2_Missense_Mutation_p.D285N|CDH24_ENST00000554034.1_Missense_Mutation_p.D285N|CDH24_ENST00000267383.5_Missense_Mutation_p.D285N NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 285 Cadherin 3. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) AGGTCTGGGTCCTGGGCCCGG 0.632000 6 263 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 5 32 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 608072 608072 + Silent SNP G G A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr11:608072G>A ENST00000264555.5 + 14 2744 c.2616G>A c.(2614-2616)acG>acA p.T872T PHRF1_ENST00000416188.2_Silent_p.T871T|PHRF1_ENST00000413872.2_Silent_p.T870T|PHRF1_ENST00000533464.1_Silent_p.T868T NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 872 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 AGGCCCAGACGGTGCAGGCTG 0.657000 4 204 0 0 1 0 0 RRP1 8568 broad.mit.edu 37 21 45211274 45211274 + Silent SNP G G T TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr21:45211274G>T ENST00000497547.1 + 2 294 c.177G>T c.(175-177)ctG>ctT p.L59L NM_003683.5 NP_003674.1 P56182 RRP1_HUMAN ribosomal RNA processing 1 59 rRNA processing nucleolus|preribosome, small subunit precursor central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) GGAAAGGACTGTTTTATTGCA 0.547000 6 118 0.0293803 0.0300636 1 1 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 88 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 3 50 0 0 1 0 0 CHD6 0 broad.mit.edu 37 20 40118565 40118565 + Silent SNP A A G TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr20:40118565A>G ENST00000373233.3 - 12 1710 c.1533T>C c.(1531-1533)ccT>ccC p.P511P CHD6_ENST00000309279.7_Silent_p.P511P NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 511 Helicase ATP-binding. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TAATGAGAAAAGGGCCGTGGA 0.488000 3 163 0 0 1 0 0 ADH7 131 broad.mit.edu 37 4 100350697 100350697 + Missense_Mutation SNP G G A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr4:100350697G>A ENST00000437033.2 - 2 615 c.112C>T c.(112-114)Cgc>Tgc p.R38C ADH7_ENST00000209665.4_Missense_Mutation_p.R50C|ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000476959.1_Missense_Mutation_p.R58C P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 50 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) ACCTTAATGCGAACTTCTTTA 0.403000 6 23 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50900410 50900410 + Silent SNP G G A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr22:50900410G>A ENST00000380817.2 - 20 2718 c.2535C>T c.(2533-2535)agC>agT p.S845S SBF1_ENST00000348911.6_Silent_p.S846S|SBF1_ENST00000390679.3_Silent_p.S845S NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 845 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) TGAGGTGGTCGCTGGTGACCC 0.617000 3 134 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 3 225 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485457 57485457 + Silent SNP T T C TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr12:57485457T>C ENST00000300131.3 + 2 1011 c.633T>C c.(631-633)ccT>ccC p.P211P NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 211 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.P211P(3) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTCCCCCCCTGCAGGGGGAG 0.711000 6 35 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 90 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941254 144941254 + Silent SNP G G A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr8:144941254G>A ENST00000525985.1 - 2 6239 c.6168C>T c.(6166-6168)gaC>gaT p.D2056D P58107 EPIPL_HUMAN epiplakin 1 2056 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCGTGTTCGGGTCCACAAACC 0.587000 3 76 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25909679 25909679 + Silent SNP G G A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr17:25909679G>A ENST00000398988.3 + 5 562 c.117G>A c.(115-117)gaG>gaA p.E39E KSR1_ENST00000509603.2_Silent_p.E176E|KSR1_ENST00000319524.6_Silent_p.E176E|KSR1_ENST00000268763.6_Silent_p.E39E NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 174 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CAGGAGGGGAGCACAAGGAGG 0.612000 3 93 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 6 40 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104107531 104107531 + Missense_Mutation SNP G G T TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr12:104107531G>T ENST00000388887.2 + 42 4726 c.4522G>T c.(4522-4524)Ggc>Tgc p.G1508C NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1508 EGF-like 12. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CACGGGTGATGGCATTGTGTG 0.517000 72 334 3.19358e-47 3.60301e-47 1 1 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 4 57 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53700562 53700562 + Splice_Site SNP G G T TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr3:53700562G>T ENST00000288139.3 + 7 1234 c.1116_splice c.e7+1 p.W372_splice CACNA1D_ENST00000422281.2_Splice_Site_p.W372_splice|CACNA1D_ENST00000350061.5_Splice_Site_p.W372_splice NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 372 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TGCTCTACTGGGTAAGTACCC 0.502000 6 234 0.0293803 0.0300636 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55587212 55587212 + Silent SNP C C G TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr10:55587212C>G ENST00000373965.2 - 33 4723 c.4329G>C c.(4327-4329)ccG>ccC p.P1443P PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000320301.6_Silent_p.P1436P|PCDH15_ENST00000409834.1_Silent_p.P1047P|PCDH15_ENST00000395445.1_Silent_p.P1443P|PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.P1438P|PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000361849.3_Silent_p.P1436P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P1396P NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1436 Poly-Pro. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) gcggcggcggcgggggcgCTG 0.582000 HNSCC(58;0.16) 4 103 0 0 1 0 0 LTB4R 1241 broad.mit.edu 37 14 24785074 24785074 + Missense_Mutation SNP T T C TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr14:24785074T>C ENST00000396789.4 + 2 1942 c.217T>C c.(217-219)Ttt>Ctt p.F73L LTB4R_ENST00000396782.2_Missense_Mutation_p.F73L|LTB4R_ENST00000345363.3_Missense_Mutation_p.F73L NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 73 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) CACTGCTCCCTTTTTCCTTCA 0.582000 3 193 0 0 1 0 0 GPR35 2859 broad.mit.edu 37 2 241569925 241569925 + Missense_Mutation SNP G G A rs146267919 TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr2:241569925G>A ENST00000319838.5 + 6 1498 c.556G>A c.(556-558)Gtg>Atg p.V186M GPR35_ENST00000438013.2_Missense_Mutation_p.V217M|GPR35_ENST00000430267.1_Missense_Mutation_p.V186M|GPR35_ENST00000407714.1_Missense_Mutation_p.V186M|GPR35_ENST00000403859.1_Missense_Mutation_p.V186M NM_001195381.1 NP_001182310.1 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 186 integral to plasma membrane G-protein coupled receptor activity NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) GCCCCTGGCCGTGGTGGTCTT 0.662000 3 83 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25310190 25310190 + RNA SNP T T C TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr15:25310190T>C ENST00000549804.2 + 0 538 SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA TGATGAGTCCTCCAAAAAAAA 0.483000 4 180 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 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 24 104 0 0 1 0 0 HAPLN3 145864 broad.mit.edu 37 15 89424649 89424649 + Silent SNP G G A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr15:89424649G>A ENST00000359595.3 - 3 646 c.432C>T c.(430-432)taC>taT p.Y144Y HAPLN3_ENST00000562889.1_Silent_p.Y206Y NM_178232.2 NP_839946.1 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 144 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) CCTCACAGCGGTAACGCCCAT 0.617000 4 141 0 0 1 0 0 KAZN 23254 broad.mit.edu 37 1 14925625 14925625 + Silent SNP C C T TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr1:14925625C>T ENST00000376030.2 + 1 426 c.132C>T c.(130-132)ggC>ggT p.G44G KAZN_ENST00000503743.1_Silent_p.G44G|KAZN_ENST00000422387.2_Silent_p.G44G NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein 44 keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 gcggcggcggcggccccggcc 0.741000 3 31 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241696841 241696843 + In_Frame_Del DEL TCC TCC - rs71779512 TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr2:241696841_241696843delTCC ENST00000498729.2 - 27 2997_2999 c.2751_2753delGGA c.(2749-2754)gat>ga p.ED917del KIF1A_ENST00000320389.7_Intron NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 697 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ctcctcctcatcctcctcctcct 0.675 3 3 --- --- --- --- KANK3 256949 broad.mit.edu 37 19 8398950 8398961 + In_Frame_Del DEL TCGCTGTCGCCA TCGCTGTCGCCA - rs111751275 TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr19:8398950_8398961delTCGCTGTCGCCA ENST00000330915.3 - 5 1532_1543 c.1467_1478delTGGCGACAGCGA c.(1465-1479)gag>ga p.DGDSE489del KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 489 p.D489_S492delDGDS(2) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC 0.717 3 4 --- --- --- --- AC012313.1 0 broad.mit.edu 37 19 58907569 58907571 + In_Frame_Del DEL AGG AGG - TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr19:58907569_58907571delAGG ENST00000601382.1 + 1 113_115 c.113_115delAGG c.(112-117)cag>c p.38del NM_001195135.1 NP_001182064.1 GGGGAAGACCaggaggaggagga 0.724 2 4 --- --- --- ---