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 OR11L1 391189 broad.mit.edu 37 1 248004453 248004453 + Missense_Mutation SNP G G C TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr1:248004453G>C ENST00000355784.2 - 1 801 c.746C>G c.(745-747)aCt>aGt p.T249S NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTAGTAGAGAGTGACAACAGC 0.498 9 28 --- --- --- --- PLB1 151056 broad.mit.edu 37 2 28752252 28752252 + Missense_Mutation SNP G G T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr2:28752252G>T ENST00000422425.2 + 7 438 c.394G>T c.(394-396)Gtc>Ttc p.V132F PLB1_ENST00000327757.5_Missense_Mutation_p.V132F NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 132 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TGGAAAGAGAGTCATACCCCA 0.483 8 53 --- --- --- --- GHRL 51738 broad.mit.edu 37 3 10331494 10331494 + Silent SNP C C T rs113751742 byFrequency TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr3:10331494C>T ENST00000335542.8 - 4 1047 c.177G>A c.(175-177)ccG>ccA p.P59P GHRL_ENST00000449238.2_Silent_p.P46P|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000422159.1_Silent_p.P59P|GHRL_ENST00000450603.1_Silent_p.P59P|GHRL_ENST00000449554.2_Silent_p.P58P|GHRL_ENST00000457360.1_Silent_p.P59P|GHRL_ENST00000439975.2_Intron|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000446937.2_Intron|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000430179.1_Silent_p.P58P|GHRL_ENST00000287656.7_Silent_p.P58P|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000437422.2_Silent_p.P47P|GHRL_ENST00000429122.1_Silent_p.P59P Q9UBU3 GHRL_HUMAN ghrelin/obestatin prepropeptide 59 actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity breast(2)|large_intestine(1)|lung(1)|ovary(1) 5 CTCCATCTTCCGGGCGGAGCC 0.587 5 130 --- --- --- --- SI 6476 broad.mit.edu 37 3 164714349 164714349 + Missense_Mutation SNP T T C TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr3:164714349T>C ENST00000264382.3 - 40 4728 c.4666A>G c.(4666-4668)Agg>Ggg p.R1556G NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1556 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTGTGATTCCTTGAGTATGGA 0.353 HNSCC(35;0.089) 54 146 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85656271 85656271 + Missense_Mutation SNP C C A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr4:85656271C>A ENST00000322366.6 - 43 7325 c.6918G>T c.(6916-6918)gaG>gaT p.E2306D WDFY3_ENST00000295888.4_Missense_Mutation_p.E2306D Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2306 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ACTGCGAAATCTCCTAACAAT 0.299 18 38 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755853 146755853 + Missense_Mutation SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr6:146755853C>T ENST00000361719.2 + 9 3976 c.3506C>T c.(3505-3507)tCg>tTg p.S1169L GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.S1169L|GRM1_ENST00000492807.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1169 Ser-rich. synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GTGTCCGAGTCGGTGCTCTGC 0.627 16 34 --- --- --- --- CLDN20 49861 broad.mit.edu 37 6 155597385 155597385 + Missense_Mutation SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr6:155597385G>A ENST00000367165.3 + 2 912 c.532G>A c.(532-534)Ggc>Agc p.G178S TFB1M_ENST00000367166.4_Intron NM_001001346.3 NP_001001346.1 P56880 CLD20_HUMAN claudin 20 178 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(2) 3 OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114) GTTTATCTCTGGCATGATTTT 0.438 18 58 --- --- --- --- NPTX2 4885 broad.mit.edu 37 7 98257788 98257788 + Silent SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr7:98257788C>T ENST00000265634.3 + 5 1308 c.1143C>T c.(1141-1143)cgC>cgT p.R381R NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 381 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) TATGGGACCGCGTCCTTCGCG 0.557 4 8 --- --- --- --- NRAP 4892 broad.mit.edu 37 10 115364399 115364399 + Nonsense_Mutation SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr10:115364399C>T ENST00000369358.4 - 35 4464 c.4220G>A c.(4219-4221)tGg>tAg p.W1407* NRAP_ENST00000359988.3_Nonsense_Mutation_p.W1399*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.W1372*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.W1364* Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1399 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TTTCTTGGCCCAGGCCATCTT 0.582 15 20 --- --- --- --- NKX6-2 84504 broad.mit.edu 37 10 134598510 134598510 + Silent SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr10:134598510G>A ENST00000368592.5 - 3 847 c.744C>T c.(742-744)gaC>gaT p.D248D NM_177400.2 NP_796374 Q9C056 NKX62_HUMAN NK6 homeobox 2 248 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|lung(2) 3 all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05) TGATCTTCTCGTCGTCCGAGT 0.672 3 24 --- --- --- --- TENM4 26011 broad.mit.edu 37 11 78380123 78380123 + Missense_Mutation SNP C C A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr11:78380123C>A ENST00000278550.7 - 32 7729 c.7267G>T c.(7267-7269)Gtg>Ttg p.V2423L NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CCGGCCAGCACATCATAATCT 0.498 8 19 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26596569 26596569 + Missense_Mutation SNP A A C TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr12:26596569A>C ENST00000381340.3 - 46 6773 c.6357T>G c.(6355-6357)aaT>aaG p.N2119K NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2119 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GCAACAGTTTATTGTGGCGGG 0.423 13 24 --- --- --- --- C12orf42 374470 broad.mit.edu 37 12 103700092 103700092 + Silent SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr12:103700092C>T ENST00000548048.1 - 8 586 c.90G>A c.(88-90)gcG>gcA p.A30A C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Silent_p.A97A|C12orf42_ENST00000548883.1_Silent_p.A97A|C12orf42_ENST00000548789.1_5'UTR Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 97 p.A97A(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 GTCTTTTACACGCCATTGAAT 0.378 3 17 --- --- --- --- FRMD5 84978 broad.mit.edu 37 15 44166604 44166604 + Missense_Mutation SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr15:44166604C>T ENST00000417257.1 - 14 1368 c.1192G>A c.(1192-1194)Ggg>Agg p.G398R FRMD5_ENST00000402883.1_Missense_Mutation_p.G398R|FRMD5_ENST00000484674.1_Missense_Mutation_p.G304R NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 398 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) AAGGTGTCCCCATGGGAAGTG 0.562 10 38 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30732587 30732587 + Missense_Mutation SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr16:30732587C>T ENST00000262518.4 + 21 3716 c.3331C>T c.(3331-3333)Cct>Tct p.P1111S SRCAP_ENST00000395059.2_Missense_Mutation_p.P1111S|SRCAP_ENST00000344771.4_Intron NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1111 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCCAACACCACCTGCCCCAGT 0.632 22 54 --- --- --- --- ALOX12B 242 broad.mit.edu 37 17 7983166 7983166 + Missense_Mutation SNP A A T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr17:7983166A>T ENST00000319144.4 - 7 1108 c.848T>A c.(847-849)aTc>aAc p.I283N AC129492.6_ENST00000399413.3_5'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 283 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 CTTGTCTGGGATCCGCGTGCA 0.657 Multiple Myeloma(8;0.094) 5 11 --- --- --- --- SMCR8 140775 broad.mit.edu 37 17 18219934 18219934 + Silent SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr17:18219934G>A ENST00000406438.3 + 1 1311 c.831G>A c.(829-831)caG>caA p.Q277Q NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 277 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 TCCAGGATCAGGCCAGCCAGG 0.512 7 27 --- --- --- --- KIAA1468 57614 broad.mit.edu 37 18 59894681 59894681 + Missense_Mutation SNP A A G TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr18:59894681A>G ENST00000256858.6 + 6 1266 c.1018A>G c.(1018-1020)Ata>Gta p.I340V KIAA1468_ENST00000398130.2_Missense_Mutation_p.I340V Q9P260 K1468_HUMAN KIAA1468 340 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) TACACCAATTATAAGCAACCT 0.403 10 77 --- --- --- --- RBM12 10137 broad.mit.edu 37 20 34240454 34240454 + Silent SNP A A G TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr20:34240454A>G ENST00000374114.3 - 3 3054 c.2791T>C c.(2791-2793)Tta>Cta p.L931L CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Silent_p.L931L|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Silent_p.L931L|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000317619.3_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 931 RRM 3. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) GGCTACCCTAATACAAGTTTT 0.403 11 77 --- --- --- --- MOV10L1 54456 broad.mit.edu 37 22 50581567 50581567 + Missense_Mutation SNP G G T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr22:50581567G>T ENST00000262794.5 + 17 2358 c.2275G>T c.(2275-2277)Ggt>Tgt p.G759C MOV10L1_ENST00000540615.1_Missense_Mutation_p.G739C|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G759C|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G759C NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 759 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GATTCTGAGTGGTGACTGCCG 0.443 6 122 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578435 7578436 + Frame_Shift_Ins INS - - AGCA TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr17:7578435_7578436insAGCA ENST00000420246.2 - 5 626_627 c.494_495insTGCT c.(493-495)cagfs p.Q165fs TP53_ENST00000413465.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Q165fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 165 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.Q165L(3)|p.Q165R(2)|p.S166fs*15(2)|p.Q165P(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q165fs*4(1)|p.Q165del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q165H(1)|p.Q165fs*16(1)|p.Q165_S166insXXX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGTGCTGTGACTGCTTGTAGAT 0.629 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 46 --- --- --- ---