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 DEGS2 123099 broad.mit.edu 37 14 100615601 100615601 + Missense_Mutation SNP C C T TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr14:100615601C>T ENST00000305631.5 - 2 1104 c.529G>A c.(529-531)Gtc>Atc p.V177I DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron NM_206918.2 NP_996801.2 Q6QHC5 DEGS2_HUMAN delta(4)-desaturase, sphingolipid 2 177 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) TTGGGGTGGACGCAGAGCGGC 0.667000 10 32 0 0 1 0 0 UBAP1 51271 broad.mit.edu 37 9 34241443 34241443 + Silent SNP G G A TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr9:34241443G>A ENST00000536252.1 + 5 818 c.420G>A c.(418-420)acG>acA p.T140T UBAP1_ENST00000379186.4_Silent_p.T140T|UBAP1_ENST00000297661.4_Silent_p.T140T|UBAP1_ENST00000545103.1_Silent_p.T204T|UBAP1_ENST00000543944.1_Silent_p.T176T|UBAP1_ENST00000359544.2_Silent_p.T140T|UBAP1_ENST00000540348.1_Silent_p.T140T NM_001171203.2 NP_001164674.1 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 140 cytoplasm endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(29;0.00272) GTAGTGCCACGAAACAGAAAG 0.478000 9 58 0 0 1 0 0 ANKRD20A11P 0 broad.mit.edu 37 21 15326405 15326405 + RNA SNP C C T rs8127713 by1000genomes TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr21:15326405C>T ENST00000344693.5 - 0 802 NR_027270.1 TTTCCATTGACTATTCTGTTT 0.423000 5 87 0 0 1 0 0 RNF10 9921 broad.mit.edu 37 12 121001322 121001322 + Missense_Mutation SNP A A G TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr12:121001322A>G ENST00000325954.4 + 9 1888 c.1427A>G c.(1426-1428)aAt>aGt p.N476S RNF10_ENST00000413266.2_Missense_Mutation_p.N481S NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 476 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCAGATGACAATCTTAAAGAG 0.527000 11 41 0 0 1 0 0 OTUD5 55593 broad.mit.edu 37 X 48781191 48781191 + Missense_Mutation SNP T T C TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chrX:48781191T>C ENST00000156084.4 - 7 1477 c.1417A>G c.(1417-1419)Atg>Gtg p.M473V OTUD5_ENST00000428668.2_Missense_Mutation_p.M251V|OTUD5_ENST00000396743.3_Missense_Mutation_p.M468V|OTUD5_ENST00000376488.3_Missense_Mutation_p.M468V NM_017602.3 NP_060072.1 Q96G74 OTUD5_HUMAN OTU domain containing 5 473 negative regulation of type I interferon production cysteine-type peptidase activity endometrium(2)|large_intestine(3)|lung(6)|pancreas(2) 13 GGGGGCTTCATGCCCAATTCA 0.617000 5 17 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70417314 70417314 + Silent SNP G G A rs144601570 byFrequency TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr18:70417314G>A ENST00000327305.6 - 9 2181 c.1524C>T c.(1522-1524)caC>caT p.H508H NETO1_ENST00000583169.1_Silent_p.H508H|NETO1_ENST00000299430.2_Silent_p.H507H NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 508 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CGGCTTTATCGTGTCTGGACA 0.438000 7 37 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34233869 34233869 + RNA SNP G G T TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr17:34233869G>T ENST00000587132.1 - 0 4158 GCAAATCTCAGTGTTGAACTT 0.522000 4 24 0.00909568 0.00909568 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8375990 8375990 + Missense_Mutation SNP C C T rs142960593 byFrequency TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr9:8375990C>T ENST00000381196.4 - 36 5150 c.4607G>A c.(4606-4608)cGt>cAt p.R1536H PTPRD_ENST00000397611.3_Missense_Mutation_p.R1126H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1129H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1536H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1523H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1126H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1514H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1129H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1536H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1130H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1129H NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1536 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R1536L(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTTGACTCTACGTAAGAAAGC 0.468000 TSP Lung(15;0.13) 13 56 0 0 1 0 0 ENTPD6 0 broad.mit.edu 37 20 25198164 25198164 + Silent SNP C C T TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr20:25198164C>T ENST00000360031.2 + 9 1004 c.822C>T c.(820-822)ggC>ggT p.G274G ENTPD6_ENST00000433259.2_Silent_p.G275G|ENTPD6_ENST00000376652.4_Silent_p.G275G|ENTPD6_ENST00000354989.5_Silent_p.G258G NM_001247.2 NP_001238.2 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 275 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 CCCCACCCGGCTACCTGACGG 0.552000 14 83 0 0 1 0 0 CD84 8832 broad.mit.edu 37 1 160523156 160523156 + Missense_Mutation SNP G G A TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr1:160523156G>A ENST00000311224.4 - 4 838 c.772C>T c.(772-774)Cca>Tca p.P258S CD84_ENST00000368051.3_Intron|CD84_ENST00000534968.1_Intron|CD84_ENST00000368054.3_Intron|CD84_ENST00000368048.3_Intron|RP11-528G1.2_ENST00000446952.1_RNA NM_001184879.1 NP_001171808.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 258 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TTACCTTCTGGGAAAATCCTA 0.458000 7 37 0 0 1 0 0 BSG 682 broad.mit.edu 37 19 577919 577919 + Missense_Mutation SNP G G C TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr19:577919G>C ENST00000333511.3 + 2 283 c.213G>C c.(211-213)tgG>tgC p.W71C BSG_ENST00000545507.2_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron|BSG_ENST00000574970.1_3'UTR NM_001728.3 NP_001719.2 P35613 BASI_HUMAN basigin 71 blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process Golgi membrane|integral to membrane|melanosome lactate transmembrane transporter activity|mannose binding|protein binding central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CCCAGCTCTGGGACGGCGCCC 0.687000 4 13 0 0 1 0 0 APAF1 317 broad.mit.edu 37 12 99119209 99119209 + Missense_Mutation SNP T T C rs138188210 byFrequency TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr12:99119209T>C ENST00000357310.1 + 24 3795 c.3218T>C c.(3217-3219)cTc>cCc p.L1073P APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.L1062P|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.L1073P|APAF1_ENST00000551964.1_Missense_Mutation_p.L1116P|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.L1105P|APAF1_ENST00000549007.1_Intron NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 1116 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) AGTTTTGATCTCCTTTTGCCA 0.458000 4 73 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 3 37 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 3 16 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111556600 111556600 + Missense_Mutation SNP G G C TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr2:111556600G>C ENST00000389811.4 + 7 694 c.470G>C c.(469-471)tGt>tCt p.C157S ACOXL_ENST00000439055.1_Missense_Mutation_p.C157S|ACOXL_ENST00000340561.4_Missense_Mutation_p.C157S Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 157 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 GGGCCCCACTGTTTCATCGTT 0.463000 13 107 0 0 1 0 0 STAG3L4 0 broad.mit.edu 37 7 66774113 66774113 + RNA SNP T T C TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr7:66774113T>C ENST00000416602.2 + 0 554 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) TCTGTCACACTAGCACCCTGG 0.498000 13 69 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599357 136599357 + Missense_Mutation SNP T T A TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr6:136599357T>A ENST00000531224.1 - 4 914 c.662A>T c.(661-663)aAt>aTt p.N221I BCLAF1_ENST00000527759.1_Missense_Mutation_p.N219I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.N221I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.N221I|BCLAF1_ENST00000392348.2_Missense_Mutation_p.N219I|BCLAF1_ENST00000353331.4_Missense_Mutation_p.N219I NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 221 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTAGGACTATTATCATAAGC 0.433000 10 175 0 0 1 0 0 IGHV4-4 0 broad.mit.edu 37 14 106478464 106478464 + RNA SNP T T C rs80132192 TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr14:106478464T>C ENST00000390596.2 - 0 110 ACCTCCCATATCCCCATGTCT 0.587000 4 55 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306946 2306946 + Missense_Mutation SNP C C G TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr4:2306946C>G ENST00000290974.2 - 8 1460 c.1121G>C c.(1120-1122)gGa>gCa p.G374A ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G304A|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G344A|RP11-478C1.7_ENST00000510632.1_RNA NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 374 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 GCCCTCCGCTCCTGGCCTGTG 0.667000 9 40 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160109744 160109744 + Nonsense_Mutation SNP C C T TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr1:160109744C>T ENST00000361216.3 + 22 3093 c.3004C>T c.(3004-3006)Cga>Tga p.R1002* ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.R991* NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 1002 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.R1002R(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGATGAGGTCCGAAAGCTCAT 0.582000 10 69 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152665261 152665261 + Missense_Mutation SNP C C A rs4645434 byFrequency TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr6:152665261C>A ENST00000367255.5 - 74 12781 c.12180G>T c.(12178-12180)gaG>gaT p.E4060D SYNE1_ENST00000448038.1_Missense_Mutation_p.E3989D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3925D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3989D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4060D NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4060 E -> D (in dbSNP:rs4645434). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.E4060D(3) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAGGACTTGGCTCTAAATCCG 0.498000 HNSCC(10;0.0054) 4 69 0.00909568 0.00909568 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 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 16 63 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 5 38 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 6 111 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8639291 8639291 + Missense_Mutation SNP C C A TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr20:8639291C>A ENST00000378641.3 + 9 1277 c.802C>A c.(802-804)Caa>Aaa p.Q268K PLCB1_ENST00000378637.2_Missense_Mutation_p.Q268K|PLCB1_ENST00000338037.6_Missense_Mutation_p.Q268K NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 268 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 ACCTCTAAAACAAGAGCAAGT 0.398000 17 92 3.52763e-06 3.71831e-06 1 1 0 TMSB15A 11013 broad.mit.edu 37 X 101770063 101770063 + Missense_Mutation SNP A A T TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chrX:101770063A>T ENST00000289373.4 - 2 164 c.29T>A c.(28-30)gTg>gAg p.V10E NM_021992.2 NP_068832.1 P0CG34 TB15A_HUMAN thymosin beta 15a 10 actin cytoskeleton organization|sequestering of actin monomers cytoplasm|cytoskeleton actin binding large_intestine(1)|lung(1) 2 AAACTTCTCCACTTCCGACAA 0.383000 15 34 0 0 1 0 0 INTS4L2 0 broad.mit.edu 37 7 65150824 65150825 + RNA INS - - G TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr7:65150824_65150825insG ENST00000430126.2 + 0 757 TCACCCCCCCCCCCGTTAAAAT 0.470 2 4 --- --- --- --- AC005077.5 0 broad.mit.edu 37 7 75804673 75804673 + RNA DEL A A - TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr7:75804673delA ENST00000437494.1 + 0 57 atctcgaaccaaaaaaaaaag 0.542 2 4 --- --- --- --- UBE2Q2P1 0 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 5 8 --- --- --- ---