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 TACC2 10579 broad.mit.edu 37 10 123843740 123843740 + Missense_Mutation SNP C C A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr10:123843740C>A ENST00000369005.1 + 4 2065 c.1725C>A c.(1723-1725)agC>agA p.S575R TACC2_ENST00000515603.1_Missense_Mutation_p.S575R|TACC2_ENST00000515273.1_Missense_Mutation_p.S575R|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S575R|TACC2_ENST00000453444.2_Missense_Mutation_p.S575R|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 575 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTGGTGACAGCCCTGGAGGAA 0.602000 20 59 1.64113e-05 1.94505e-05 1 1 0 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 4 102 0 0 1 0 0 ACTL8 81569 broad.mit.edu 37 1 18152586 18152586 + Missense_Mutation SNP C C T TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr1:18152586C>T ENST00000375406.1 + 3 889 c.673C>T c.(673-675)Cgt>Tgt p.R225C NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 225 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CCTGGACTTTCGTGAGAGGCA 0.597000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 43 0 0 1 0 0 HS1BP3 64342 broad.mit.edu 37 2 20818912 20818912 + Silent SNP C C T TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr2:20818912C>T ENST00000304031.3 - 7 1039 c.1014G>A c.(1012-1014)ccG>ccA p.P338P NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 338 Pro-rich. cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGGTATCACCGGCTTAGCTG 0.597000 6 173 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33638043 33638043 + Missense_Mutation SNP G G A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr13:33638043G>A ENST00000380099.3 + 5 2767 c.2759G>A c.(2758-2760)cGc>cAc p.R920H KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 920 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding p.R920H(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TTTAACGACCGCACAGCTCCG 0.418000 5 193 0 0 1 0 0 DNAAF2 55172 broad.mit.edu 37 14 50092335 50092335 + Silent SNP A A G TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr14:50092335A>G ENST00000298292.8 - 3 2519 c.2439T>C c.(2437-2439)agT>agC p.S813S DNAAF2_ENST00000406043.3_Silent_p.S765S NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 813 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 TGACCTGCACACTACCATCCT 0.333000 5 103 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 4 41 0 0 1 0 0 TTLL1 25809 broad.mit.edu 37 22 43465690 43465690 + Missense_Mutation SNP C C T TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr22:43465690C>T ENST00000331018.7 - 4 514 c.274G>A c.(274-276)Ggg>Agg p.G92R TTLL1_ENST00000266254.7_Missense_Mutation_p.G92R O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 92 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) AGAGGACTCCCTTCTTTCTCC 0.428000 40 196 0 0 1 0 0 LUM 4060 broad.mit.edu 37 12 91502054 91502054 + Missense_Mutation SNP G G A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr12:91502054G>A ENST00000266718.4 - 2 1157 c.703C>T c.(703-705)Cgt>Tgt p.R235C LUM_ENST00000548071.1_5'UTR NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 235 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent p.R235C(1) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 TGAGATAAACGCAGATACTGC 0.403000 49 87 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43585116 43585116 + Missense_Mutation SNP T T C TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr19:43585116T>C ENST00000406487.1 - 2 445 c.347A>G c.(346-348)gAc>gGc p.D116G NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 116 Ig-like V-type. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GGATCCTGCGTCCTCCCGGGT 0.453000 123 182 0 0 1 0 0 STX8 9482 broad.mit.edu 37 17 9153924 9153924 + Missense_Mutation SNP C C T TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr17:9153924C>T ENST00000306357.3 - 8 1109 c.682G>A c.(682-684)Gtg>Atg p.V228M STX8_ENST00000574431.1_Missense_Mutation_p.V117M NM_004853.2 NP_004844.1 Q9UNK0 STX8_HUMAN syntaxin 8 228 transport endoplasmic reticulum|integral to plasma membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1) 12 GCAACAACCACGATAGCCACA 0.463000 4 12 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 4 67 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33068870 33068870 + Silent SNP G G A rs113018466 byFrequency TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr9:33068870G>A ENST00000397149.3 - 4 503 c.453C>T c.(451-453)ggC>ggT p.G151G SMU1_ENST00000536631.1_5'UTR NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 151 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) CACTGACTTCGCCAGCTAAGG 0.507000 3 39 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18937330 18937330 + Missense_Mutation SNP T T C TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr16:18937330T>C ENST00000446231.2 - 1 446 c.34A>G c.(34-36)Agc>Ggc p.S12G SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 12 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ccgccgccgctgcTCAGCCGA 0.736000 3 17 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93646235 93646235 + Translation_Start_Site SNP C C A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr3:93646235C>A ENST00000407433.1 - 0 260 PROS1_ENST00000394236.3_Missense_Mutation_p.Q31H P07225 PROS_HUMAN protein S (alpha) leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CTTGTGAAGCCTGTTGCTTTG 0.318000 4 58 0.00024832 0.000274008 1 1 0 IGSF22 283284 broad.mit.edu 37 11 18732256 18732256 + Nonsense_Mutation SNP G G A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr11:18732256G>A ENST00000513874.1 - 16 2657 c.2518C>T c.(2518-2520)Cga>Tga p.R840* RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 838 Fibronectin type-III 2. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TTCTTCCTTCGTTCTACAATG 0.567000 29 14 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 5 47 0 0 1 0 0 FAM104B 90736 broad.mit.edu 37 X 55172537 55172537 + Nonsense_Mutation SNP G G A rs1047054 by1000genomes TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chrX:55172537G>A ENST00000425133.2 - 3 369 c.331C>T c.(331-333)Cga>Tga p.R111* FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR NM_001166700.1|NM_001166701.1|NM_001166704.1 NP_001160172.1|NP_001160173.1|NP_001160176.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B 0 p.R111*(5) endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 GCTTGCCCTCGCTGCTGCAGG 0.438000 3 27 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14106458 14106458 + Missense_Mutation SNP C C A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr1:14106458C>A ENST00000235372.7 + 8 3024 c.2168C>A c.(2167-2169)gCa>gAa p.A723E PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.A522E|PRDM2_ENST00000343137.4_Missense_Mutation_p.A522E|PRDM2_ENST00000311066.5_Missense_Mutation_p.A723E NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 723 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TCTGCTCCTGCATCAATGTTG 0.473000 4 89 0.000602214 0.000642362 1 1 0 DNM1P47 100216544 broad.mit.edu 37 15 102304743 102304743 + RNA SNP G G T TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr15:102304743G>T ENST00000561463.1 + 0 12789 GACACTCGTGGAGGAGTCGGC 0.612000 4 26 1.12685e-05 1.38689e-05 1 1 0 FAM63A 55793 broad.mit.edu 37 1 150975138 150975138 + Missense_Mutation SNP C C A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr1:150975138C>A ENST00000361738.6 - 3 319 c.100G>T c.(100-102)Gtt>Ttt p.V34F FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361936.5_5'UTR|FAM63A_ENST00000470877.1_Intron NM_001163258.1 NP_001156730.1 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 0 protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGTTTACTAACCTCAGGGACT 0.517000 13 21 2.27111e-07 2.90702e-07 1 1 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 23 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039035 11039035 + RNA SNP A A G TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr21:11039035A>G ENST00000470054.1 - 0 1168 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) CAATTGTAGGAGTCATTTCAG 0.378000 23 604 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120474689 120474689 + Missense_Mutation SNP G G T TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr9:120474689G>T ENST00000355622.6 + 3 384 c.283G>T c.(283-285)Gat>Tat p.D95Y TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D55Y NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 95 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GACAATTGAAGATGGGGCATA 0.378000 3 32 0.115264 0.115264 1 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142699953 142699954 + RNA INS - - A rs74315780 TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr1:142699953_142699954insA ENST00000369381.2 - 0 2077 tatatatatatatatatatata 0.257 2 4 --- --- --- --- STAG3L2 442582 broad.mit.edu 37 7 74300803 74300804 + RNA INS - - A TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr7:74300803_74300804insA ENST00000423186.1 - 0 499 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 TCTTCATACTTAAAAAAAAAAA 0.455 2 4 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 101076229 101076229 + Frame_Shift_Del DEL T T - TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr8:101076229delT ENST00000360863.6 - 8 961 c.767delA c.(766-768)agfs p.K256fs RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 256 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGATGGGTCCTTTTTTGTCCT 0.328 8 400 --- --- --- --- LOC101929735 101929735 broad.mit.edu 37 14 22892202 22892202 + RNA DEL A A - TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr14:22892202delA ENST00000514473.2 - 0 225 AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000537850.1_RNA ctaaaaatacaaaaaaaaaaa 0.547 2 4 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85682290 85682290 + Frame_Shift_Del DEL C C - TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr16:85682290delC ENST00000253458.7 + 3 535 c.359delC c.(358-360)acfs p.T120fs GSE1_ENST00000393243.1_Frame_Shift_Del_p.T47fs|GSE1_ENST00000405402.2_Frame_Shift_Del_p.T16fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.V123fs*2(1) GTGCCCAGCACCCCCCCCGTG 0.687 8 113 --- --- --- --- MAP1LC3B 81631 broad.mit.edu 37 16 87426052 87426052 + Frame_Shift_Del DEL T T - TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chr16:87426052delT ENST00000268607.5 + 1 647 c.19delT c.(19-21)tcfs p.F7fs MAP1LC3B_ENST00000565788.1_Frame_Shift_Del_p.F7fs NM_022818.4 NP_073729.1 Q9GZQ8 MLP3B_HUMAN microtubule-associated protein 1 light chain 3 beta 7 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding endometrium(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(80;0.0249) GGAGAAGACCTTCAAGCAGCG 0.786 2 4 --- --- --- --- IRAK1 3654 broad.mit.edu 37 X 153285123 153285123 + Frame_Shift_Del DEL C C - TCGA-QR-A7IP-01A-11D-A35D-08 TCGA-QR-A7IP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 95d8c07b-c848-461a-b0c1-bac02ceef57d 4beec4a9-1246-497c-9299-f4457425c9da g.chrX:153285123delC ENST00000393682.1 - 1 140 c.141delG c.(139-141)ggfs p.G47fs IRAK1_ENST00000369980.3_Intron|IRAK1_ENST00000369974.2_Intron|IRAK1_ENST00000429936.2_Frame_Shift_Del_p.G47fs|IRAK1_ENST00000393687.2_Intron P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 45 Death. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) cccgccgccACCCACCGAACT 0.746 2 4 --- --- --- ---