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 ANKEF1 63926 broad.mit.edu 37 20 10025162 10025162 + Missense_Mutation SNP C C G TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr20:10025162C>G ENST00000378380.3 + 4 996 c.667C>G c.(667-669)Cat>Gat p.H223D SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.H223D NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 TCACGCTGCTCATTTTGCTGC 0.368000 14 140 0 0 0.575678 0 0 PER3 8863 broad.mit.edu 37 1 7886649 7886649 + Silent SNP G G A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr1:7886649G>A ENST00000377532.3 + 16 2291 c.2067G>A c.(2065-2067)gcG>gcA p.A689A PER3_ENST00000361923.2_Silent_p.A681A|RP3-467L1.4_ENST00000451646.1_RNA P56645 PER3_HUMAN period circadian clock 3 681 CSNK1E binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TTCTGTCAGCGCACACCCAGA 0.507000 3 46 0 0 0.115264 0 0 MT-CYB 4519 broad.mit.edu 37 MT 14868 14868 + Missense_Mutation SNP T T C TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chrM:14868T>C ENST00000361789.2 + 1 122 c.122T>C c.(121-123)cTg>cCg p.41_41insP mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 TGGCGCCTGCCTGATCCTCCA 0.493000 580 35 0 0 0.870114 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18633034 18633034 + Missense_Mutation SNP C C T TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr11:18633034C>T ENST00000336349.5 - 5 2189 c.1954G>A c.(1954-1956)Gaa>Aaa p.E652K NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 652 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 CTCTTTGCTTCTTCCTTCTGC 0.353000 8 82 0 0 0.335167 0 0 SBF1 6305 broad.mit.edu 37 22 50894771 50894771 + Missense_Mutation SNP G G C TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr22:50894771G>C ENST00000380817.2 - 31 4323 c.4140C>G c.(4138-4140)ttC>ttG p.F1380L SBF1_ENST00000390679.3_Missense_Mutation_p.F1354L|SBF1_ENST00000348911.6_Missense_Mutation_p.F1355L NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1354 Myotubularin phosphatase. 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) GCCGTGCCTCGAATACCTCAA 0.617000 5 43 0 0 0.184627 0 0 RYR1 6261 broad.mit.edu 37 19 38958277 38958277 + Missense_Mutation SNP A A T TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr19:38958277A>T ENST00000355481.4 + 25 3337 c.3206A>T c.(3205-3207)gAc>gTc p.D1069V RYR1_ENST00000360985.3_Missense_Mutation_p.D1069V|RYR1_ENST00000359596.3_Missense_Mutation_p.D1069V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1069 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCTCGTTGTGACCGGGTGCGC 0.557000 23 109 0 0 0.681144 0 0 HERC2P3 0 broad.mit.edu 37 15 20644411 20644411 + RNA SNP A A T TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr15:20644411A>T ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CTGCTGCACCACTCTTCACCA 0.657000 4 8 0 0 0.184627 0 0 CACNG7 59284 broad.mit.edu 37 19 54418665 54418665 + Silent SNP C C T TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr19:54418665C>T ENST00000391767.1 + 4 542 c.330C>T c.(328-330)ctC>ctT p.L110L CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Silent_p.L110L|CACNG7_ENST00000222212.2_Silent_p.L110L P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 110 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) GCCTCTTCCTCGTGTTCACGG 0.607000 7 81 0 0 0.278610 0 0 DOLK 22845 broad.mit.edu 37 9 131709562 131709562 + Silent SNP A A G TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr9:131709562A>G ENST00000372586.3 - 1 336 c.21T>C c.(19-21)tcT>tcC p.S7S RP11-101E3.5_ENST00000482796.1_Intron NM_014908.3 NP_055723.1 Q9UPQ8 DOLK_HUMAN dolichol kinase 7 dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 11 CCGGGGCCGGAGATGGGCACT 0.667000 11 27 0 0 0.411799 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416999 105416999 + Missense_Mutation SNP C C G TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr14:105416999C>G ENST00000333244.5 - 7 4908 c.4789G>C c.(4789-4791)Gat>Cat p.D1597H AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1597 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCTTAACATCTATCTGGGGC 0.607000 7 89 0 0 0.307466 0 0 OR7A5 26659 broad.mit.edu 37 19 14938639 14938639 + Missense_Mutation SNP G G T TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr19:14938639G>T ENST00000322301.3 - 2 502 c.415C>A c.(415-417)Cac>Aac p.H139N OR7A5_ENST00000594432.1_Missense_Mutation_p.H139N|OR7A5_ENST00000601611.1_Intron Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 CCACAGAGGTGAGGGTTCATA 0.498000 11 54 9.70103e-10 1.08889e-09 0.361761 1 0 TBC1D9 23158 broad.mit.edu 37 4 141543797 141543797 + Missense_Mutation SNP G G C TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr4:141543797G>C ENST00000442267.2 - 21 3427 c.3353C>G c.(3352-3354)gCc>gGc p.A1118G NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1118 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GCTGTCGGGGGCCAGGCTGGC 0.657000 12 41 0 0 0.435327 0 0 FERMT1 55612 broad.mit.edu 37 20 6068514 6068514 + Silent SNP G G A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr20:6068514G>A ENST00000217289.4 - 11 2069 c.1281C>T c.(1279-1281)ccC>ccT p.P427P FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Silent_p.P170P NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 427 FERM.|PH. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 CATTTACATCGGGCACAACTT 0.383000 26 100 0 0 0.706142 0 0 POLE 5426 broad.mit.edu 37 12 133220461 133220461 + Silent SNP G G A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr12:133220461G>A ENST00000320574.5 - 33 4295 c.4252C>T c.(4252-4254)Ctg>Ttg p.L1418L POLE_ENST00000535270.1_Silent_p.L1391L NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1418 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GGCGCTGACAGCTCAGCGTTG 0.542000 DNA polymerases (catalytic subunits) 3 41 0 0 0.115264 0 0 C3orf58 205428 broad.mit.edu 37 3 143691563 143691563 + Missense_Mutation SNP C C G TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr3:143691563C>G ENST00000315691.3 + 1 924 c.389C>G c.(388-390)aCc>aGc p.T130S C3orf58_ENST00000493396.1_3'UTR NM_173552.3 NP_775823.1 Q8NDZ4 CC058_HUMAN chromosome 3 open reading frame 58 130 COPI vesicle coat|extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AAGCGGGCCACCGGCCGGCCC 0.766000 3 11 0 0 0.115264 0 0 PRSS48 345062 broad.mit.edu 37 4 152203401 152203401 + Missense_Mutation SNP C C A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr4:152203401C>A ENST00000455694.2 + 3 319 c.317C>A c.(316-318)cCc>cAc p.P106H SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 106 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 GTCATCCATCCCAAGTACCAA 0.468000 10 190 0.0135373 0.014891 0.411799 1 0 TYRP1 7306 broad.mit.edu 37 9 12695656 12695656 + Missense_Mutation SNP C C T TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr9:12695656C>T ENST00000388918.5 + 3 656 c.527C>T c.(526-528)aCg>aTg p.T176M TYRP1_ENST00000381137.2_5'UTR NM_000550.2 NP_000541.1 P17643 TYRP1_HUMAN tyrosinase-related protein 1 176 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) GATGGCAACACGCCACAATTT 0.448000 Oculocutaneous Albinism 24 79 0 0 0.639603 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31851280 31851280 + Missense_Mutation SNP G G C TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr22:31851280G>C ENST00000397525.1 - 9 1344 c.1121C>G c.(1120-1122)tCt>tGt p.S374C RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S374C|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S53C|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S211C|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S374C NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 374 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTGTCCAGGAGAGAGGATGGC 0.378000 6 46 0 0 0.248553 0 0 DVL3 1857 broad.mit.edu 37 3 183882940 183882940 + Silent SNP G G A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr3:183882940G>A ENST00000313143.3 + 6 887 c.639G>A c.(637-639)ctG>ctA p.L213L EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Silent_p.L213L NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 213 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CCTCACGCCTGATGAGAAGAC 0.642000 5 59 0 0 0.217242 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 4 84 0 0 0.248553 0 0 GFRA3 2676 broad.mit.edu 37 5 137595283 137595283 + Missense_Mutation SNP C C G TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr5:137595283C>G ENST00000274721.3 - 3 681 c.435G>C c.(433-435)tgG>tgC p.W145C GFRA3_ENST00000378362.3_Intron NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 145 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GATTCATTTTCCAGGGTTTGC 0.557000 14 74 0 0 0.520397 0 0 PTGR2 145482 broad.mit.edu 37 14 74340912 74340912 + Missense_Mutation SNP G G A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr14:74340912G>A ENST00000555661.1 + 4 488 c.343G>A c.(343-345)Gaa>Aaa p.E115K PTGR2_ENST00000555228.1_Missense_Mutation_p.E115K|RP5-1021I20.4_ENST00000553813.1_Intron|PTGR2_ENST00000267568.4_Missense_Mutation_p.E115K|PTGR2_ENST00000554885.1_Intron Q8N8N7 PTGR2_HUMAN prostaglandin reductase 2 115 prostaglandin metabolic process 15-oxoprostaglandin 13-oxidase activity|zinc ion binding NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2) 9 AAATAGCCTTGAAAAGGTGAT 0.328000 9 77 0 0 0.387290 0 0 EEF1A2 1917 broad.mit.edu 37 20 62121972 62121972 + Missense_Mutation SNP C C T TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr20:62121972C>T ENST00000217182.3 - 6 1054 c.889G>A c.(889-891)Gag>Aag p.E297K EEF1A2_ENST00000298049.7_Missense_Mutation_p.E297K NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 297 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CTCAGAGCCTCGTGGTGCATC 0.627000 23 91 0 0 0.654019 0 0 OR4C11 219429 broad.mit.edu 37 11 55371297 55371297 + Missense_Mutation SNP G G T TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr11:55371297G>T ENST00000302231.4 - 1 577 c.553C>A c.(553-555)Ctt>Att p.L185I NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 ATGCAGGCAAGTTTCAACAAG 0.393000 18 77 6.33239e-15 7.41024e-15 0.592651 1 0 HSD3B7 80270 broad.mit.edu 37 16 30997755 30997755 + Missense_Mutation SNP G G A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr16:30997755G>A ENST00000262520.6 + 4 624 c.334G>A c.(334-336)Gtg>Atg p.V112M HSD3B7_ENST00000353250.5_Missense_Mutation_p.V112M|HSD3B7_ENST00000297679.5_Missense_Mutation_p.V112M NM_001142777.1 NP_001136249.1 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 112 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TACCCGGAACGTGATCGAGGC 0.577000 10 30 0 0 0.361761 0 0 PRKDC 5591 broad.mit.edu 37 8 48798637 48798637 + Silent SNP G G A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr8:48798637G>A ENST00000314191.2 - 37 4697 c.4641C>T c.(4639-4641)ggC>ggT p.G1547G PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.G1547G NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1548 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGATGACGCTGCCCTGTGAGC 0.493000 Non-homologous end-joining 14 41 0 0 0.435327 0 0 STK31 56164 broad.mit.edu 37 7 23775294 23775294 + Silent SNP A A T TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr7:23775294A>T ENST00000354639.3 + 7 1016 c.552A>T c.(550-552)ggA>ggT p.G184G STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Silent_p.G207G|STK31_ENST00000433467.2_Silent_p.G207G|STK31_ENST00000428484.1_Silent_p.G184G NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 207 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTAAGAAAGGATTTGCAGAGA 0.413000 27 71 0 0 0.693898 0 0 TBX3 6926 broad.mit.edu 37 12 115120663 115120663 + Nonsense_Mutation SNP G G A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr12:115120663G>A ENST00000349155.2 - 1 1306 c.343C>T c.(343-345)Cag>Tag p.Q115* TBX3_ENST00000257566.3_Nonsense_Mutation_p.Q115* NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 115 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) TTGTGAAACTGATCCCAAAGT 0.572000 7 64 0 0 0.248553 0 0 FBN1 2200 broad.mit.edu 37 15 48802244 48802244 + Missense_Mutation SNP C C T TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr15:48802244C>T ENST00000316623.5 - 14 2166 c.1711G>A c.(1711-1713)Gaa>Aaa p.E571K NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 571 EGF-like 8; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TTATTACCTTCACAGTTCTTC 0.408000 6 56 0 0 0.217242 0 0 CUL9 23113 broad.mit.edu 37 6 43173160 43173160 + Splice_Site SNP C C T rs148718257 byFrequency TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr6:43173160C>T ENST00000252050.4 + 24 4876 c.4793_splice c.e24+1 p.Q1598_splice CUL9_ENST00000354495.3_Splice_Site_p.Q1488_splice|CUL9_ENST00000372647.2_Splice_Site_p.Q1598_splice NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1598 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GCACTTCTATCAGTGAGTGCA 0.517000 14 141 0 0 0.557998 0 0 SPATA5L1 79029 broad.mit.edu 37 15 45695663 45695663 + Missense_Mutation SNP C C T TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr15:45695663C>T ENST00000305560.6 + 1 1135 c.1036C>T c.(1036-1038)Cgg>Tgg p.R346W SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R346W NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 346 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) AGCCACTAACCGGCCGGACGC 0.682000 3 66 0 0 0.115264 0 0 HIVEP1 3096 broad.mit.edu 37 6 12161971 12161971 + Missense_Mutation SNP G G A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr6:12161971G>A ENST00000379388.2 + 8 7119 c.6787G>A c.(6787-6789)Gca>Aca p.A2263T HIVEP1_ENST00000541134.1_Missense_Mutation_p.A128T NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2263 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CCTGAGCACAGCACAGTCTGA 0.552000 3 70 0 0 0.115264 0 0 PRKDC 5591 broad.mit.edu 37 8 48798638 48798638 + Missense_Mutation SNP C C A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr8:48798638C>A ENST00000314191.2 - 37 4696 c.4640G>T c.(4639-4641)gGc>gTc p.G1547V PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.G1547V NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1548 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GATGACGCTGCCCTGTGAGCT 0.493000 Non-homologous end-joining 14 41 4.36969e-10 5.00694e-10 0.435327 1 0 WDR76 79968 broad.mit.edu 37 15 44120432 44120432 + Silent SNP A A G TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr15:44120432A>G ENST00000263795.6 + 2 400 c.330A>G c.(328-330)caA>caG p.Q110Q WDR76_ENST00000381246.2_Silent_p.Q46Q NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 110 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) CCACGCTGCAAAATTCATCCT 0.408000 24 69 0 0 0.681144 0 0 DUSP5 1847 broad.mit.edu 37 10 112262508 112262508 + Missense_Mutation SNP C C G TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr10:112262508C>G ENST00000369583.3 + 2 693 c.409C>G c.(409-411)Cct>Gct p.P137A DUSP5_ENST00000468749.1_3'UTR NM_004419.3 NP_004410.3 Q16690 DUS5_HUMAN dual specificity phosphatase 5 137 Rhodanese. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 13 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) CTCGGAATATCCTGAGTGTTG 0.423000 17 74 0 0 0.539581 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13243 13243 + Missense_Mutation SNP G G C TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chrM:13243G>C ENST00000361567.2 + 1 907 c.907G>C c.(907-909)Gcc>Ccc p.A303P P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 303 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) AAAAAATCGTAGCCTTCTCCA 0.453000 576 27 0 0 0.870114 0 0 HYPK 25764 broad.mit.edu 37 15 44093955 44093955 + Missense_Mutation SNP G G A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr15:44093955G>A ENST00000406925.1 + 5 4452 c.341G>A c.(340-342)cGg>cAg p.R114Q SERF2_ENST00000594896.1_Missense_Mutation_p.R160Q|HYPK_ENST00000458412.1_3'UTR|HYPK_ENST00000442995.2_Missense_Mutation_p.R114Q|SERF2_ENST00000600633.1_Missense_Mutation_p.R114Q huntingtin interacting protein K all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;8.1e-07) CGCAGTTTGCGGGAACACATG 0.428000 11 61 0 0 0.411799 0 0 CTSS 1520 broad.mit.edu 37 1 150727538 150727538 + Missense_Mutation SNP C C T rs140031053 by1000genomes TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr1:150727538C>T ENST00000368985.3 - 4 598 c.338G>A c.(337-339)cGg>cAg p.R113Q CTSS_ENST00000448301.2_Intron|CTSS_ENST00000480760.1_5'UTR NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 113 R -> W (in dbSNP:rs2230061). immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity p.R113L(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) AGGCAATATCCGATTAGGGTT 0.433000 20 215 0 0 0.624587 0 0 STAM2 10254 broad.mit.edu 37 2 153003678 153003678 + Missense_Mutation SNP G G C TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr2:153003678G>C ENST00000263904.4 - 5 794 c.445C>G c.(445-447)Cag>Gag p.Q149E STAM2_ENST00000465460.1_5'UTR NM_005843.4 NP_005834.4 O75886 STAM2_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 149 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding endometrium(3)|large_intestine(4)|lung(8)|ovary(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.22) TCTCTCACCTGAGAACCTGCT 0.363000 8 122 0 0 0.361761 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49320810 49320810 + Missense_Mutation SNP C C T TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr15:49320810C>T ENST00000559471.1 - 5 997 c.734G>A c.(733-735)gGc>gAc p.G245D SECISBP2L_ENST00000261847.3_Missense_Mutation_p.G245D NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 245 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 TCTTCTCCTGCCCTTGGACTT 0.473000 7 93 0 0 0.278610 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba 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 10 57 0 0 0.361761 0 0 PHRF1 57661 broad.mit.edu 37 11 587445 587445 + Missense_Mutation SNP G G A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr11:587445G>A ENST00000264555.5 + 4 529 c.401G>A c.(400-402)tGc>tAc p.C134Y PHRF1_ENST00000416188.2_Missense_Mutation_p.C134Y|PHRF1_ENST00000533464.1_Missense_Mutation_p.C130Y|PHRF1_ENST00000413872.2_Missense_Mutation_p.C133Y NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 134 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 TGCCTGGACTGCATTGTCGAA 0.557000 4 89 0 0 0.217242 0 0 SGK223 0 broad.mit.edu 37 8 8185788 8185788 + Missense_Mutation SNP G G A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr8:8185788G>A ENST00000520004.1 - 5 2768 c.2504C>T c.(2503-2505)tCc>tTc p.S835F SGK223_ENST00000330777.4_Missense_Mutation_p.S835F Q86YV5 SG223_HUMAN 835 ATP binding|non-membrane spanning protein tyrosine kinase activity GGGCTTGGGGGAGCCTTGGGT 0.607000 35 132 0 0 0.788014 0 0 KDM2A 22992 broad.mit.edu 37 11 67018081 67018081 + Silent SNP G G A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr11:67018081G>A ENST00000529006.2 + 17 3026 c.2580G>A c.(2578-2580)gaG>gaA p.E860E KDM2A_ENST00000308783.5_Silent_p.E318E|KDM2A_ENST00000530342.1_Silent_p.E421E|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 860 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 aggaggaagaggaggaggagg 0.657000 3 15 0 0 0.115264 0 0 KIF21A 55605 broad.mit.edu 37 12 39716485 39716485 + Missense_Mutation SNP G G A TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr12:39716485G>A ENST00000395670.3 - 26 4075 c.3656C>T c.(3655-3657)tCt>tTt p.S1219F KIF21A_ENST00000541463.2_Missense_Mutation_p.S1183F|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1199F|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1206F|KIF21A_ENST00000361418.5_Missense_Mutation_p.S1219F Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1219 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) GCCTATCTTAGAAGGTAAGCC 0.403000 8 84 0 0 0.361761 0 0 WDR45B 56270 broad.mit.edu 37 17 80583323 80583323 + Missense_Mutation SNP G G C TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr17:80583323G>C ENST00000392325.4 - 5 563 c.369C>G c.(367-369)ttC>ttG p.F123L WDR45B_ENST00000571835.1_5'UTR NM_019613.3 NP_062559.2 WD repeat domain 45B GTGTGAATGTGAACACCTTAA 0.453000 6 62 0 0 0.217242 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162388 33162388 + RNA SNP A A C TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr5:33162388A>C ENST00000510327.1 - 0 346 CCAGCTGCCAACACCAAGATT 0.597000 5 28 0 0 0.217242 0 0 MTHFR 4524 broad.mit.edu 37 1 11854415 11854415 + Splice_Site DEL T T - TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr1:11854415delT ENST00000376592.1 - 7 1475 c.1347_splice c.e7+1 p.K449_splice MTHFR_ENST00000376583.3_Splice_Site_p.K490_splice|MTHFR_ENST00000376585.1_Splice_Site_p.K490_splice|MTHFR_ENST00000376590.3_Splice_Site_p.K449_splice P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 449 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) CATCACTCACTTTGTGACCAT 0.587 8 117 --- --- --- --- RPS6KA1 6195 broad.mit.edu 37 1 26885311 26885311 + Frame_Shift_Del DEL C C - TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr1:26885311delC ENST00000374168.2 + 14 1252 c.1098delC c.(1096-1098)atfs p.I366fs RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.I350fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.I274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.I355fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.I375fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.I274fs NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 366 AGC-kinase C-terminal. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CCCCAGGCATCCCCCCCAGCG 0.672 7 144 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145116147 145116148 + RNA INS - - A rs138980379 TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr1:145116147_145116148insA ENST00000453618.1 + 0 1233_1234 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AGTAGATTGTTATTTCGTTTTT 0.416 3 3 --- --- --- --- ANGPT2 285 broad.mit.edu 37 8 6378718 6378721 + Frame_Shift_Del DEL AGTC AGTC - rs78729465 byFrequency TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr8:6378718_6378721delAGTC ENST00000325203.5 - 4 1251_1254 c.777_780delGACT c.(775-780)ctfs p.LT259fs ANGPT2_ENST00000415216.1_Frame_Shift_Del_p.LT259fs|ANGPT2_ENST00000338312.6_Frame_Shift_Del_p.LT207fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Frame_Shift_Del_p.LT259fs O15123 ANGP2_HUMAN angiopoietin 2 259 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) TGGACATCATAGTCAGTAAGTTAT 0.338 12 100 --- --- --- --- RP11-543F8.2 0 broad.mit.edu 37 10 8495201 8495201 + RNA DEL G G - TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr10:8495201delG ENST00000413286.1 + 0 141 CCTTTTTTTTGTTTCCTCCTC 0.428 2 4 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131962110 131962111 + RNA INS - - ATA rs141746341 TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr12:131962110_131962111insATA ENST00000535133.1 - 0 195 tggtaatggtggtgatgatggt 0.396 3 5 --- --- --- --- RP1-261D10.2 0 broad.mit.edu 37 14 71787420 71787421 + RNA INS - - C rs140256891 by1000genomes TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr14:71787420_71787421insC ENST00000555771.1 - 0 141 CACCTCCTCATCCCCCCCCCGG 0.703 3 3 --- --- --- --- TIGD7 91151 broad.mit.edu 37 16 3349586 3349587 + Frame_Shift_Ins INS - - C TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr16:3349586_3349587insC ENST00000396862.1 - 2 2856_2857 c.1028_1029insG c.(1027-1029)atgfs p.M343fs TIGD7_ENST00000268674.2_Frame_Shift_Ins_p.M343fs NM_033208.3 NP_149985.2 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 343 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 GTTGCTTCCATCTATACAGCCG 0.361 9 72 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49982166 49982166 + Splice_Site DEL C C - TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr19:49982166delC ENST00000595510.1 + 5 398 c.96_splice c.e5-1 p.P35_splice CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000597551.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000594009.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000204637.2_Splice_Site_p.P35_splice|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000600429.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000596435.1_Intron|FLT3LG_ENST00000344019.3_Splice_Site_p.P117_splice P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 117 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity p.S118fs*24(1) large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTGCTCCCAGCCCCCCCCCAG 0.687 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11060157 11060159 + RNA DEL ACA ACA - rs144760925 TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr21:11060157_11060159delACA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AACTGCAAATACAACACCTTGGT 0.300 4 9 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11069012 11069013 + RNA INS - - C rs150046862 TCGA-DJ-A13L-01A-11D-A21Z-08 TCGA-DJ-A13L-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1924d200-6929-4eef-8a7f-317f8fbab915 d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba g.chr21:11069012_11069013insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tttttcaacttcaaaaaattaa 0.272 6 4 --- --- --- ---