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 CPAMD8 27151 broad.mit.edu 37 19 17039029 17039029 + Nonsense_Mutation SNP C C A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr19:17039029C>A ENST00000443236.1 - 25 3332 c.3301G>T c.(3301-3303)Gag>Tag p.E1101* NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1054 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TTGGATGGCTCTGGACCATGG 0.582000 4 153 0.150653 0.159117 0.150653 1 0 MAST2 23139 broad.mit.edu 37 1 46295226 46295226 + Missense_Mutation SNP G G T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr1:46295226G>T ENST00000361297.2 + 3 724 c.441G>T c.(439-441)caG>caT p.Q147H MAST2_ENST00000372009.2_Missense_Mutation_p.Q147H NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 147 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CCCTTGGACAGTCTGCACCTT 0.448000 3 146 0.00909568 0.00982752 0.150653 1 0 PDHA2 5161 broad.mit.edu 37 4 96761615 96761615 + Missense_Mutation SNP G G A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr4:96761615G>A ENST00000295266.4 + 1 377 c.314G>A c.(313-315)gGc>gAc p.G105D NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 105 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CTTGAGGCCGGCATAAACCCC 0.517000 5 228 0 0 0.014758 0 0 DNAH11 8701 broad.mit.edu 37 7 21678576 21678576 + Missense_Mutation SNP G G T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr7:21678576G>T ENST00000328843.6 + 28 4883 c.4852G>T c.(4852-4854)Gct>Tct p.A1618S DNAH11_ENST00000409508.3_Missense_Mutation_p.A1613S Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1618 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTGTGAAAAAGCTCTCGCTGA 0.403000 Kartagener syndrome 67 157 9.12251e-31 1.11366e-30 0.139131 1 0 PEG10 23089 broad.mit.edu 37 7 94293346 94293346 + Missense_Mutation SNP G G A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr7:94293346G>A ENST00000482108.1 + 2 957 c.478G>A c.(478-480)Gac>Aac p.D160N PEG10_ENST00000488574.1_Missense_Mutation_p.D160N NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 160 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TGTCTTTGAAGACCCTCAGAG 0.557000 12 353 0 0 0.105934 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 3 40 0 0 0.115264 0 0 LRP1B 53353 broad.mit.edu 37 2 141528521 141528521 + Missense_Mutation SNP G G T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr2:141528521G>T ENST00000389484.3 - 34 6526 c.5555C>A c.(5554-5556)aCa>aAa p.T1852K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1852 EGF-like 4. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGTTTCAGATGTTGGTAAACA 0.353000 TSP Lung(27;0.18) 13 215 0.00010058 0.000112554 0.093190 1 0 LST3 0 broad.mit.edu 37 12 21205042 21205042 + Silent SNP A A C TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr12:21205042A>C ENST00000381541.3 + 10 1409 c.1344A>C c.(1342-1344)gtA>gtC p.V448V SLCO1B7_ENST00000421593.2_Silent_p.V401V|SLCO1B7_ENST00000554957.1_Silent_p.V448V|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron ATAGTCCAGTAAGATCTCATG 0.388000 24 123 0 0 0.076483 0 0 EPRS 2058 broad.mit.edu 37 1 220195728 220195728 + Missense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr1:220195728C>T ENST00000366923.3 - 9 1345 c.1076G>A c.(1075-1077)tGc>tAc p.C359Y NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 359 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TTGAATTTTGCAGCGATAAAG 0.378000 7 406 0 0 0.029380 0 0 MYH8 4626 broad.mit.edu 37 17 10309482 10309482 + Missense_Mutation SNP C C G TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr17:10309482C>G ENST00000403437.2 - 21 2402 c.2308G>C c.(2308-2310)Gct>Cct p.A770P CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 770 Actin-binding.|Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 AGAAGTCCAGCTTTGAAGAAA 0.403000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 48 77 0 0 0.139131 0 0 COL27A1 85301 broad.mit.edu 37 9 116931516 116931516 + Missense_Mutation SNP A A G TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr9:116931516A>G ENST00000356083.3 + 3 2072 c.1681A>G c.(1681-1683)Aag>Gag p.K561E NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 561 Pro-rich. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CAGACCTGGGAAGGCAGCCAG 0.642000 9 242 0 0 0.047766 0 0 TET2 54790 broad.mit.edu 37 4 106156834 106156834 + Missense_Mutation SNP C C G TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr4:106156834C>G ENST00000540549.1 + 3 2595 c.1735C>G c.(1735-1737)Cta>Gta p.L579V TET2_ENST00000305737.2_Missense_Mutation_p.L579V|TET2_ENST00000394764.1_Missense_Mutation_p.L579V|TET2_ENST00000380013.4_Missense_Mutation_p.L579V|TET2_ENST00000545826.1_Missense_Mutation_p.L579V|TET2_ENST00000513237.1_Missense_Mutation_p.L600V|TET2_ENST00000413648.2_Missense_Mutation_p.L579V Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 579 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) GGAATCCCATCTAAAACGTAA 0.453000 """Mis N, F""" MDS 5 152 0 0 0.014758 0 0 TRPM6 140803 broad.mit.edu 37 9 77435280 77435280 + Silent SNP A A G TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr9:77435280A>G ENST00000451710.3 - 9 1311 c.1074T>C c.(1072-1074)agT>agC p.S358S TRPM6_ENST00000449912.2_Silent_p.S353S|TRPM6_ENST00000376871.3_Silent_p.S358S|TRPM6_ENST00000360774.1_Silent_p.S358S|TRPM6_ENST00000376872.3_Silent_p.S358S|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000361255.3_Silent_p.S353S|TRPM6_ENST00000376864.4_Silent_p.S358S Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 358 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 ACTGTTTAAGACTAAAGTTGA 0.413000 35 108 0 0 0.104719 0 0 NEB 4703 broad.mit.edu 37 2 152342397 152342397 + Silent SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr2:152342397C>T ENST00000397345.3 - 182 25657 c.25455G>A c.(25453-25455)gtG>gtA p.V8485V NEB_ENST00000172853.10_Silent_p.V6629V|NEB_ENST00000603639.1_Silent_p.V8485V|NEB_ENST00000409198.1_Silent_p.V6629V|NEB_ENST00000427231.2_Silent_p.V8485V|NEB_ENST00000509223.2_Silent_p.V398V|NEB_ENST00000397336.2_Silent_p.V460V|NEB_ENST00000604864.1_Silent_p.V8485V NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 6629 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CCTTGAAGGACACCTCATCTG 0.458000 67 130 0 0 0.139131 0 0 TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T C TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr17:7578271T>C ENST00000420246.2 - 6 710 c.578A>G c.(577-579)cAt>cGt p.H193R TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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) TCGGATAAGATGCTGAGGAGG 0.562000 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) 74 12 0 0 0.139131 0 0 ZNF713 349075 broad.mit.edu 37 7 56006946 56006946 + Silent SNP A A C TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr7:56006946A>C ENST00000429591.2 + 4 578 c.540A>C c.(538-540)tcA>tcC p.S180S MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ATCTGAACTCAAACCTTATGC 0.368000 32 136 0 0 0.173368 0 0 REV3L 5980 broad.mit.edu 37 6 111726682 111726682 + Silent SNP T T G TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr6:111726682T>G ENST00000435970.1 - 6 1138 c.322A>C c.(322-324)Aga>Cga p.R108R REV3L_ENST00000368802.3_Silent_p.R186R|REV3L_ENST00000368805.1_Silent_p.R186R|REV3L_ENST00000358835.3_Silent_p.R186R O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 186 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTTTTCCTTCTTGCTTTTCGG 0.299000 DNA polymerases (catalytic subunits) 7 203 0 0 0.029380 0 0 RHAG 6005 broad.mit.edu 37 6 49604490 49604490 + Silent SNP C C A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr6:49604490C>A ENST00000371175.4 - 1 62 c.36G>T c.(34-36)ctG>ctT p.L12L RHAG_ENST00000229810.7_Silent_p.L12L NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 12 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) TGGCAATTTCCAGGACTATAG 0.443000 61 140 2.5401e-28 3.06114e-28 0.139131 1 0 RTDR1 27156 broad.mit.edu 37 22 23401832 23401832 + Missense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr22:23401832C>T ENST00000216036.4 - 7 1051 c.855G>A c.(853-855)atG>atA p.M285I NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 285 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) GCGCTATGGTCATGGGGGAGT 0.657000 59 190 0 0 0.139131 0 0 ZNF618 114991 broad.mit.edu 37 9 116811471 116811471 + Missense_Mutation SNP G G A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr9:116811471G>A ENST00000288466.7 + 14 1709 c.1610G>A c.(1609-1611)gGc>gAc p.G537D ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.G630D NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 630 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 TCCAAGGCCGGCATGTGCCTT 0.622000 4 223 0 0 0.014758 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr1:12885289G>T ENST00000535591.1 - 4 1017 c.822C>A c.(820-822)ctC>ctA p.L274L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 274 p.L274L(3) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCACTGGGAGAGATGCTTCA 0.458000 6 404 3.07112e-06 3.47813e-06 0.080935 1 0 BCLAF1 9774 broad.mit.edu 37 6 136597607 136597607 + Missense_Mutation SNP C C A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr6:136597607C>A ENST00000531224.1 - 5 1308 c.1056G>T c.(1054-1056)agG>agT p.R352S BCLAF1_ENST00000353331.4_Missense_Mutation_p.R350S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R352S|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R350S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R350S NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 352 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGGTATTACCCCTATCAAGCA 0.443000 9 523 0.000673444 0.00073609 0.069234 1 0 C1orf168 199920 broad.mit.edu 37 1 57258301 57258301 + Missense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr1:57258301C>T ENST00000343433.6 - 2 265 c.185G>A c.(184-186)cGc>cAc p.R62H C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 62 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GTATGGTGTGCGCTGCTTGTG 0.473000 15 322 0 0 0.132662 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43925953 43925953 + Missense_Mutation SNP T T C TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr12:43925953T>C ENST00000389420.3 - 3 498 c.499A>G c.(499-501)Ata>Gta p.I167V ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I167V NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 167 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GCCTTCATTATAGGTTCTAAG 0.343000 12 147 0 0 0.093190 0 0 SPTAN1 6709 broad.mit.edu 37 9 131337005 131337005 + Nonsense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr9:131337005C>T ENST00000372739.3 + 4 525 c.415C>T c.(415-417)Cga>Tga p.R139* SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.R139*|SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.R139* NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 139 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GGAGAAGATGCGAGAAAAAGG 0.468000 47 80 0 0 0.139131 0 0 SIRPD 128646 broad.mit.edu 37 20 1517834 1517834 + Missense_Mutation SNP G G T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr20:1517834G>T ENST00000381623.3 - 3 1733 c.544C>A c.(544-546)Ccc>Acc p.P182T SIRPD_ENST00000381621.1_Missense_Mutation_p.P183T Q9H106 SIRPD_HUMAN signal-regulatory protein delta 182 extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 CAGCAGCAGGGTTGGACGAAA 0.607000 43 139 3.77016e-25 4.48601e-25 0.131918 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 41 66 0 0 0.086207 0 0 MUC1 4582 broad.mit.edu 37 1 155160204 155160204 + Missense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr1:155160204C>T ENST00000368395.1 - 5 1146 c.1075G>A c.(1075-1077)Gtc>Atc p.V359I MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000457295.2_Missense_Mutation_p.V148I|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000438413.1_Missense_Mutation_p.V113I|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Missense_Mutation_p.V108I|MUC1_ENST00000337604.5_Missense_Mutation_p.V157I|MUC1_ENST00000368398.3_Missense_Mutation_p.V114I|MUC1_ENST00000368392.3_Missense_Mutation_p.V148I|MUC1_ENST00000368390.3_Missense_Mutation_p.V139I|MUC1_ENST00000368393.3_Missense_Mutation_p.V157I|MUC1_ENST00000342482.4_Intron NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 1139 42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCACCGCTGACGTCTGAGATC 0.577000 T IGH@ B-NHL 6 58 0 0 0.038147 0 0 SBF2 81846 broad.mit.edu 37 11 9864268 9864268 + Missense_Mutation SNP T T C TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr11:9864268T>C ENST00000256190.8 - 25 3297 c.3160A>G c.(3160-3162)Aca>Gca p.T1054A RP11-1H15.2_ENST00000533659.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1054 myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CGCCCAATTGTCATTTTCCCT 0.373000 4 111 0 0 0.014758 0 0 KIAA1614 57710 broad.mit.edu 37 1 180904728 180904728 + Silent SNP G G A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr1:180904728G>A ENST00000367588.4 + 5 1738 c.1683G>A c.(1681-1683)caG>caA p.Q561Q KIAA1614_ENST00000367587.1_Silent_p.Q182Q NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 561 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GGACCCTCCAGGAGCTCCAGG 0.726000 3 32 0 0 0.115264 0 0 ALPK1 80216 broad.mit.edu 37 4 113362097 113362097 + Missense_Mutation SNP G G A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr4:113362097G>A ENST00000458497.1 + 15 3842 c.3563G>A c.(3562-3564)gGa>gAa p.G1188E ALPK1_ENST00000504176.2_Missense_Mutation_p.G1110E|ALPK1_ENST00000177648.9_Missense_Mutation_p.G1188E NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1188 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) AATGGAAAAGGACTCATCTAC 0.363000 5 269 0 0 0.014758 0 0 CACNA2D1 781 broad.mit.edu 37 7 81624211 81624211 + Silent SNP G G A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr7:81624211G>A ENST00000356860.3 - 20 2045 c.1707C>T c.(1705-1707)ttC>ttT p.F569F CACNA2D1_ENST00000356253.5_Silent_p.F588F NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 588 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CCAGAGTTCTGAATGTTTTTT 0.299000 6 112 0 0 0.021553 0 0 GAS2 2620 broad.mit.edu 37 11 22747932 22747932 + Missense_Mutation SNP G G A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr11:22747932G>A ENST00000454584.2 + 4 667 c.362G>A c.(361-363)cGa>cAa p.R121Q GAS2_ENST00000278187.3_Missense_Mutation_p.R121Q|GAS2_ENST00000433790.1_Missense_Mutation_p.R121Q NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 121 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 TCCTGGTGCCGAGATTTAGGG 0.398000 15 138 0 0 0.119110 0 0 TRIM56 81844 broad.mit.edu 37 7 100732260 100732260 + Missense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr7:100732260C>T ENST00000306085.6 + 3 1964 c.1667C>T c.(1666-1668)gCc>gTc p.A556V NM_030961.1 NP_112223.1 Q9BRZ2 TRI56_HUMAN tripartite motif containing 56 556 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) TGCAGCGTGGCCGCCCTGCAG 0.672000 5 185 0 0 0.014758 0 0 ATRX 546 broad.mit.edu 37 X 76890086 76890086 + Splice_Site SNP T T C TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chrX:76890086T>C ENST00000373344.5 - 17 5022 c.4809_splice c.e17+1 p.Q1603_splice ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.Q1565_splice NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1603 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AGCTCTTACCTGTAAAGTCTT 0.393000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 82 23 0 0 0.139131 0 0 CCNG2 901 broad.mit.edu 37 4 78081991 78081991 + Nonsense_Mutation SNP A A T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr4:78081991A>T ENST00000316355.5 + 4 750 c.394A>T c.(394-396)Aaa>Taa p.K132* CCNG2_ENST00000509972.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000354403.5_Nonsense_Mutation_p.K132*|CCNG2_ENST00000395640.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000502280.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000497512.1_3'UTR NM_004354.2 NP_004345.1 Q16589 CCNG2_HUMAN cyclin G2 132 cell cycle checkpoint|cell division|mitosis cytoplasm breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 TAGTCAGTGTAAATGTACTGC 0.363000 92 148 0 0 0.139131 0 0 SNX17 9784 broad.mit.edu 37 2 27599364 27599364 + Missense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr2:27599364C>T ENST00000233575.2 + 14 1498 c.1276C>T c.(1276-1278)Cgg>Tgg p.R426W SNX17_ENST00000542478.1_Missense_Mutation_p.R212W|SNX17_ENST00000537606.1_Missense_Mutation_p.R401W|SNX17_ENST00000543024.1_Missense_Mutation_p.R212W NM_001267059.1|NM_001267061.1|NM_014748.3 NP_001253988.1|NP_001253990.1|NP_055563.1 Q15036 SNX17_HUMAN sorting nexin 17 426 cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGATGCCACCCGGGAGTCTAT 0.572000 77 258 0 0 0.139131 0 0 DNMT3B 1789 broad.mit.edu 37 20 31372610 31372610 + Missense_Mutation SNP C C G rs138276579 TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr20:31372610C>G ENST00000328111.2 + 4 572 c.251C>G c.(250-252)aCc>aGc p.T84S DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000348286.2_Missense_Mutation_p.T84S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.T96S|DNMT3B_ENST00000375623.4_Missense_Mutation_p.T84S|DNMT3B_ENST00000443239.3_Missense_Mutation_p.T84S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.T84S|DNMT3B_ENST00000353855.2_Missense_Mutation_p.T84S NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 84 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGCTCTGACACCCCAGTCATG 0.527000 3 143 0 0 0.115264 0 0 PTPN18 26469 broad.mit.edu 37 2 131116491 131116491 + Missense_Mutation SNP G G A rs11892325 byFrequency TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr2:131116491G>A ENST00000175756.5 + 2 246 c.145G>A c.(145-147)Gtg>Atg p.V49M PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 49 Tyrosine-protein phosphatase. cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) GTGCTCCACCGTGGCCGGCAG 0.627000 56 136 0 0 0.139131 0 0 CDKN1B 1027 broad.mit.edu 37 12 12871757 12871757 + Splice_Site SNP A A C TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr12:12871757A>C ENST00000228872.4 + 2 1191 c.e2-1 CDKN1B_ENST00000477087.1_Splice_Site|CDKN1B_ENST00000396340.1_Intron NM_004064.3 NP_004055.1 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) CCCTGCGCTTAGATTCTTCTA 0.433000 6 295 0 0 0.029380 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072135 34072135 + Missense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr17:34072135C>T ENST00000254466.6 - 6 2408 c.2381G>A c.(2380-2382)cGa>cAa p.R794Q GAS2L2_ENST00000587565.1_Missense_Mutation_p.R778Q NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 794 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCTGGGGATTCGTGAAGGCTG 0.632000 16 261 0 0 0.175082 0 0 ZNF83 55769 broad.mit.edu 37 19 53122219 53122219 + Silent SNP A A G rs10402820 by1000genomes TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr19:53122219A>G ENST00000600714.1 - 4 394 c.112T>C c.(112-114)Ttg>Ctg p.L38L ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000601257.1_Silent_p.L38L|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000597161.1_Silent_p.L38L|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000596930.1_Silent_p.L38L|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000544146.1_5'UTR P51522 ZNF83_HUMAN zinc finger protein 83 0 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TAATTCTCCAACATCACATCT 0.468000 3 139 0 0 0.115264 0 0 FMOD 2331 broad.mit.edu 37 1 203316988 203316988 + Silent SNP G G A rs141206727 TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr1:203316988G>A ENST00000354955.4 - 2 874 c.411C>T c.(409-411)caC>caT p.H137H FMOD_ENST00000464898.1_Intron NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 137 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) TCTGGTTGCCGTGGAGAGCAA 0.557000 5 170 0 0 0.021553 0 0 PTPRR 5801 broad.mit.edu 37 12 71286466 71286466 + Missense_Mutation SNP A A G TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr12:71286466A>G ENST00000283228.2 - 2 802 c.350T>C c.(349-351)aTt>aCt p.I117T NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 117 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TACCACCACAATTACATTTGC 0.413000 4 246 0 0 0.150653 0 0 UNC45B 146862 broad.mit.edu 37 17 33482401 33482401 + Silent SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr17:33482401C>T ENST00000268876.5 + 7 823 c.726C>T c.(724-726)tgC>tgT p.C242C UNC45B_ENST00000591048.1_Silent_p.C242C|UNC45B_ENST00000378449.1_Silent_p.C242C|UNC45B_ENST00000433649.1_Silent_p.C242C|UNC45B_ENST00000394570.2_Silent_p.C242C NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 242 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) TGGCTGTCTGCAACCTGCTCC 0.552000 23 200 0 0 0.076483 0 0 PSD 5662 broad.mit.edu 37 10 104173754 104173754 + Missense_Mutation SNP A A C TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr10:104173754A>C ENST00000020673.5 - 5 1851 c.1325T>G c.(1324-1326)tTt>tGt p.F442C PSD_ENST00000406432.1_Missense_Mutation_p.F442C NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 442 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) AGGCAGCTCAAAGGTGAAGAA 0.652000 10 109 0 0 0.069234 0 0 AIM2 9447 broad.mit.edu 37 1 159035847 159035847 + Silent SNP G G A rs148686373 TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr1:159035847G>A ENST00000368130.4 - 4 957 c.669C>T c.(667-669)agC>agT p.S223S AIM2_ENST00000481829.1_Intron NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 223 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) CACGTGAGGCGCTATTTACCT 0.368000 32 311 0 0 0.153744 0 0 HEATR1 55127 broad.mit.edu 37 1 236724539 236724539 + Silent SNP T T C TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr1:236724539T>C ENST00000366582.3 - 33 4746 c.4632A>G c.(4630-4632)aaA>aaG p.K1544K HEATR1_ENST00000366581.2_Silent_p.K1463K NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1544 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CTTCAAGGCCTTTTAAAATCT 0.323000 3 210 0 0 0.150653 0 0 KANK4 163782 broad.mit.edu 37 1 62739569 62739569 + Missense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr1:62739569C>T ENST00000371153.4 - 3 1585 c.1207G>A c.(1207-1209)Gcc>Acc p.A403T KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 403 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GTGTCTTTGGCGTTCTCTTGG 0.517000 5 325 0 0 0.021553 0 0 ZDHHC11 79844 broad.mit.edu 37 5 850710 850710 + Missense_Mutation SNP G G A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr5:850710G>A ENST00000283441.8 - 1 391 c.8C>T c.(7-9)aCc>aTc p.T3I ZDHHC11_ENST00000424784.2_Missense_Mutation_p.T3I NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 3 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) CCCGGAGCGGGTGTCCATCTG 0.617000 5 142 0 0 0.014758 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 197 0 0 0.115264 0 0 OR1S1 219959 broad.mit.edu 37 11 57982589 57982589 + Missense_Mutation SNP A A T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr11:57982589A>T ENST00000309433.6 + 1 373 c.373A>T c.(373-375)Aat>Tat p.N125Y NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) CGTCATTGACAATTTGCTCTT 0.453000 171 246 0 0 0.139131 0 0 GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 6 455 0 0 0.038147 0 0 MYO3A 53904 broad.mit.edu 37 10 26243813 26243813 + Missense_Mutation SNP A A G TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr10:26243813A>G ENST00000265944.5 + 4 345 c.179A>G c.(178-180)gAa>gGa p.E60G MYO3A_ENST00000543632.1_Missense_Mutation_p.E60G|MYO3A_ENST00000376301.1_Missense_Mutation_p.E60G|MYO3A_ENST00000376302.1_Missense_Mutation_p.E60G NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 60 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GATATTGACGAAGAGATTGAA 0.318000 18 260 0 0 0.049695 0 0 SMCO4 56935 broad.mit.edu 37 11 93212240 93212240 + Missense_Mutation SNP G G A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr11:93212240G>A ENST00000298966.2 - 3 501 c.116C>T c.(115-117)gCc>gTc p.A39V SMCO4_ENST00000525141.1_Missense_Mutation_p.A39V|SMCO4_ENST00000527149.1_Missense_Mutation_p.A39V NM_020179.2 NP_064564.1 single-pass membrane protein with coiled-coil domains 4 CACGACCACGGCCAGCGTGGG 0.652000 10 92 0 0 0.069234 0 0 C2orf62 375307 broad.mit.edu 37 2 219232561 219232561 + Silent SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr2:219232561C>T ENST00000289388.3 + 10 1067 c.1038C>T c.(1036-1038)ttC>ttT p.F346F C2orf62_ENST00000481940.1_3'UTR NM_198559.1 NP_940961.1 Q7Z7H3 CB062_HUMAN chromosome 2 open reading frame 62 346 endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGTCACCTTCGCCGCCGAGT 0.701000 6 53 0 0 0.021553 0 0 SNHG14 0 broad.mit.edu 37 15 25320979 25320979 + RNA SNP A A G TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr15:25320979A>G ENST00000549804.2 + 0 1075 CATGTTTGGCATGGTCTCCTT 0.473000 15 15 0 0 0.119110 0 0 MGAT4A 11320 broad.mit.edu 37 2 99279632 99279632 + Silent SNP G G A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr2:99279632G>A ENST00000393487.1 - 5 727 c.414C>T c.(412-414)gtC>gtT p.V138V MGAT4A_ENST00000414521.2_Silent_p.V10V|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000264968.2_Silent_p.V138V|MGAT4A_ENST00000409391.1_Silent_p.V138V NM_012214.2 NP_036346.1 Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 138 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 GAATGCCCATGACTATTGAAA 0.323000 6 469 0 0 0.021553 0 0 ZNF99 7652 broad.mit.edu 37 19 22941101 22941101 + Missense_Mutation SNP T T C TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr19:22941101T>C ENST00000397104.3 - 5 1336 c.1337A>G c.(1336-1338)tAc>tGc p.Y446C ZNF99_ENST00000596209.1_Missense_Mutation_p.Y537C zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTCACATTTGTAGGGTTTCTT 0.343000 5 275 0 0 0.029380 0 0 RMI1 80010 broad.mit.edu 37 9 86616940 86616940 + Missense_Mutation SNP C C G TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr9:86616940C>G ENST00000325875.3 + 3 1371 c.1039C>G c.(1039-1041)Cga>Gga p.R347G NM_024945.2 NP_079221.2 Q9H9A7 RMI1_HUMAN RecQ mediated genome instability 1 347 DNA replication nucleus biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 AAATGCCGATCGAAGTATAGA 0.343000 16 100 0 0 0.132662 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 3 60 0 0 0.021553 0 0 COL1A2 1278 broad.mit.edu 37 7 94033881 94033881 + Missense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr7:94033881C>T ENST00000297268.6 + 7 764 c.293C>T c.(292-294)cCt>cTt p.P98L NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 98 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TTAATGGGACCTAGAGGCCCA 0.443000 HNSCC(75;0.22) 4 163 0 0 0.150653 0 0 RNASEL 6041 broad.mit.edu 37 1 182554707 182554707 + Missense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr1:182554707C>T ENST00000367559.3 - 2 1488 c.1235G>A c.(1234-1236)cGa>cAa p.R412Q RNASEL_ENST00000444138.1_Missense_Mutation_p.R412Q|RNASEL_ENST00000539397.1_Missense_Mutation_p.R412Q NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 412 Protein kinase. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 ACTGTTCTCTCGGCTGCTTTG 0.532000 14 175 0 0 0.146539 0 0 MCCC2 64087 broad.mit.edu 37 5 70944989 70944989 + Missense_Mutation SNP G G A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr5:70944989G>A ENST00000340941.6 + 14 1411 c.1282G>A c.(1282-1284)Gct>Act p.A428T MCCC2_ENST00000323375.8_Missense_Mutation_p.A390T NM_022132.4 NP_071415.1 Q9HCC0 MCCB_HUMAN methylcrotonoyl-CoA carboxylase 2 (beta) 428 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) GATGGTGGCCGCTGTGGCCTG 0.512000 5 152 0 0 0.014758 0 0 CACNA1B 774 broad.mit.edu 37 9 140850187 140850187 + Missense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr9:140850187C>T ENST00000371372.1 + 8 1253 c.1108C>T c.(1108-1110)Cgc>Tgc p.R370C CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R370C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R370C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R370C|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R370C NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 370 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GGAGAACCGCCGCGCCTTCCT 0.642000 10 17 0 0 0.069234 0 0 ZNF733P 0 broad.mit.edu 37 7 62758650 62758650 + RNA SNP A A G TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr7:62758650A>G ENST00000331425.6 - 0 227 NR_003952.1 TCACCCAGGGAGACCAAGTTT 0.358000 5 166 0 0 0.021553 0 0 PLCE1 51196 broad.mit.edu 37 10 95790842 95790842 + Silent SNP T T C TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr10:95790842T>C ENST00000260766.3 + 2 673 c.39T>C c.(37-39)ccT>ccC p.P13P PLCE1_ENST00000371380.2_Silent_p.P13P NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 13 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TTCTCATACCTGTGACTCAGA 0.418000 4 197 0 0 0.014758 0 0 AMY2B 280 broad.mit.edu 37 1 104115689 104115689 + Missense_Mutation SNP G G A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr1:104115689G>A ENST00000361355.4 + 5 936 c.320G>A c.(319-321)cGt>cAt p.R107H AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 107 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TTCTAGGTTCGTATTTATGTG 0.368000 146 793 0 0 0.139131 0 0 KCNC3 3748 broad.mit.edu 37 19 50826645 50826645 + Missense_Mutation SNP A A G TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr19:50826645A>G ENST00000376959.2 - 2 1728 c.1565T>C c.(1564-1566)cTg>cCg p.L522P KCNC3_ENST00000477616.1_Missense_Mutation_p.L522P|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 522 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) CAGGGCACACAGCGCCCCGAC 0.602000 3 74 0 0 0.115264 0 0 CCDC158 339965 broad.mit.edu 37 4 77244544 77244544 + Missense_Mutation SNP A A G TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr4:77244544A>G ENST00000388914.3 - 23 3328 c.3176T>C c.(3175-3177)aTa>aCa p.I1059T NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 1059 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TGTTGTTTCTATTGGCGGAGA 0.353000 35 343 0 0 0.173368 0 0 OAF 220323 broad.mit.edu 37 11 120097624 120097624 + Missense_Mutation SNP C C G TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr11:120097624C>G ENST00000328965.4 + 3 979 c.466C>G c.(466-468)Ccc>Gcc p.P156A OAF_ENST00000531220.1_Missense_Mutation_p.P40A NM_178507.2 NP_848602.1 Q86UD1 OAF_HUMAN OAF homolog (Drosophila) 156 kidney(1)|lung(5) 6 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.1e-06) CCTGCTGAGCCCCCATCTCCA 0.642000 54 75 0 0 0.139131 0 0 NTSR2 23620 broad.mit.edu 37 2 11798782 11798782 + Silent SNP A A T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr2:11798782A>T ENST00000306928.5 - 4 1090 c.1056T>A c.(1054-1056)gcT>gcA p.A352A NM_012344.3 NP_036476.1 O95665 NTR2_HUMAN neurotensin receptor 2 352 sensory perception integral to plasma membrane breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) GAGGAGTCACAGCTGAGCTGA 0.532000 4 174 0 0 0.014758 0 0 C12orf65 91574 broad.mit.edu 37 12 123741402 123741402 + Missense_Mutation SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr12:123741402C>T ENST00000253233.1 + 3 969 c.325C>T c.(325-327)Cgg>Tgg p.R109W C12orf65_ENST00000429587.2_Missense_Mutation_p.R109W|RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000366329.2_Missense_Mutation_p.R109W NM_152269.4 NP_689482.1 Q9H3J6 CL065_HUMAN chromosome 12 open reading frame 65 109 mitochondrion translation release factor activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199) AAAGCTAGCTCGGAAAATCCT 0.368000 6 100 0 0 0.021553 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 43 0 0 0.115264 0 0 OR13C2 392376 broad.mit.edu 37 9 107367614 107367614 + Missense_Mutation SNP C C A TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr9:107367614C>A ENST00000542196.1 - 1 337 c.295G>T c.(295-297)Gtg>Ttg p.V99L NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 AACATCTGCACTGCACAGCCA 0.522000 21 232 2.79863e-10 3.28839e-10 0.099896 1 0 VSIG1 340547 broad.mit.edu 37 X 107310285 107310285 + Silent SNP T T C TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chrX:107310285T>C ENST00000415430.3 + 4 602 c.441T>C c.(439-441)agT>agC p.S147S VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Silent_p.S111S NM_001170553.1 NP_001164024.1 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 111 Ig-like C2-type 2. V -> I (in dbSNP:rs17254305). integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 CAGCAGACAGTGGAATTTACA 0.463000 4 166 0 0 0.150653 0 0 CUBN 8029 broad.mit.edu 37 10 16883005 16883005 + Silent SNP C C T TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr10:16883005C>T ENST00000377833.4 - 61 9770 c.9705G>A c.(9703-9705)acG>acA p.T3235T NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3235 CUB 24. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AACCACAAAACGTTCCAGCCA 0.363000 16 99 0 0 0.146539 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 700532 700532 + RNA DEL T T - TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr1:700532delT ENST00000428504.1 - 0 1021 NR_033908.1 aaaaaaaaaaTTCCTTTGGGA 0.453 4 6 --- --- --- --- SLC8A3 6547 broad.mit.edu 37 14 70633381 70633382 + Frame_Shift_Ins INS - - C TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr14:70633381_70633382insC ENST00000381269.2 - 2 2511_2512 c.1758_1759insG c.(1756-1761)gatggafs p.DG586fs SLC8A3_ENST00000356921.2_Frame_Shift_Ins_p.DG586fs|SLC8A3_ENST00000534137.1_Frame_Shift_Ins_p.DG586fs|SLC8A3_ENST00000528359.1_Frame_Shift_Ins_p.DG586fs|SLC8A3_ENST00000357887.3_Frame_Shift_Ins_p.DG586fs NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 586 Calx-beta 2. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TTGAATTCCAACTCCCCATATG 0.505 14 120 --- --- --- --- ZCCHC3 85364 broad.mit.edu 37 20 278688 278690 + In_Frame_Del DEL CGG CGG - rs63544660 TCGA-DH-5142-01A-01D-1468-08 TCGA-DH-5142-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a80ae1c-948a-4a98-b0c2-f81ab2415083 25f1462b-2671-4f5d-85e0-9539594b53e4 g.chr20:278688_278690delCGG ENST00000382352.3 + 1 952_954 c.461_463delCGG c.(460-465)ccg>c p.PA154del NM_033089.6 NP_149080.2 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 154 nucleic acid binding|zinc ion binding p.A159delA(3) endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CAGGATGAgccggcggcggcggc 0.768 4 7 --- --- --- ---