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 KCNT2 343450 broad.mit.edu 37 1 196274364 196274364 + Splice_Site SNP C C A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr1:196274364C>A ENST00000367433.5 - 21 2624 c.2523G>T c.(2521-2523)aaG>aaT p.K841N KCNT2_ENST00000294725.9_Splice_Site_p.K865N|KCNT2_ENST00000367431.4_Splice_Site_p.K791N|KCNT2_ENST00000609185.1_Splice_Site_p.K791N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron NM_198503.2 NP_940905.2 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 865 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GGGGTCTTACCTTTTCCAGTT 0.338 3 33 --- --- --- --- OBSCN 84033 broad.mit.edu 37 1 228444583 228444583 + Missense_Mutation SNP G G A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr1:228444583G>A ENST00000570156.2 + 16 4891 c.4817G>A c.(4816-4818)tGc>tAc p.C1606Y OBSCN_ENST00000359599.6_Missense_Mutation_p.C78Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.C1514Y|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.C1514Y NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 587 Ig-like 16. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GAGTACAGCTGCGAGGCGGGG 0.647 15 39 --- --- --- --- POTEE 445582 broad.mit.edu 37 2 131976139 131976139 + Missense_Mutation SNP A A C TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr2:131976139A>C ENST00000356920.5 + 1 258 c.164A>C c.(163-165)aAg>aCg p.K55T PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.K55T|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 55 ATP binding TCTGCTATGAAGACACTCAGG 0.607 15 266 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179397722 179397722 + Nonsense_Mutation SNP A A T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr2:179397722A>T ENST00000589042.1 - 358 103844 c.103620T>A c.(103618-103620)taT>taA p.Y34540* TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y25600*|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y25667*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y31972*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y32899*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y25475*|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32899 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGGTACATCATAAGGCATCC 0.438 34 120 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179530153 179530153 + Missense_Mutation SNP C C A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr2:179530153C>A ENST00000589042.1 - 165 36218 c.35994G>T c.(35992-35994)atG>atT p.M11998I TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10144 Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAAATATTTTCATTTCAGGGA 0.368 16 120 --- --- --- --- STAT1 6772 broad.mit.edu 37 2 191862718 191862718 + Missense_Mutation SNP T T G TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr2:191862718T>G ENST00000361099.3 - 9 1036 c.649A>C c.(649-651)Ata>Cta p.I217L STAT1_ENST00000392323.2_Missense_Mutation_p.I219L|STAT1_ENST00000409465.1_Missense_Mutation_p.I217L|STAT1_ENST00000392322.3_Missense_Mutation_p.I217L|STAT1_ENST00000540176.1_Missense_Mutation_p.N186T NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 217 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) AACTCTATTATTTTGTGAACT 0.343 15 27 --- --- --- --- LANCL1 10314 broad.mit.edu 37 2 211336687 211336687 + Nonsense_Mutation SNP C C T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr2:211336687C>T ENST00000443314.1 - 2 537 c.195G>A c.(193-195)tgG>tgA p.W65* LANCL1_ENST00000450366.2_Nonsense_Mutation_p.W65*|LANCL1_ENST00000233714.4_Nonsense_Mutation_p.W65*|LANCL1_ENST00000441020.3_Nonsense_Mutation_p.W65*|LANCL1_ENST00000431941.2_Nonsense_Mutation_p.W65* O43813 LANC1_HUMAN LanC lantibiotic synthetase component C-like 1 (bacterial) 65 cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) TCATACCTGCCCAGCCAGTGT 0.502 108 395 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712884 218712884 + Missense_Mutation SNP G G A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr2:218712884G>A ENST00000171887.4 - 17 2433 c.1981C>T c.(1981-1983)Cgc>Tgc p.R661C TNS1_ENST00000430930.1_Missense_Mutation_p.R661C|TNS1_ENST00000419504.1_Missense_Mutation_p.R661C NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 661 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGAGGTGGGCGAGgctgctgc 0.667 3 6 --- --- --- --- UGT1A7 54577 broad.mit.edu 37 2 234591302 234591302 + Missense_Mutation SNP C C T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr2:234591302C>T ENST00000373426.3 + 1 719 c.719C>T c.(718-720)aCg>aTg p.T240M UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron NM_019077.2 NP_061950.2 NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1) 33 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) ACCCCTGTCACGGCATATGAT 0.408 28 514 --- --- --- --- AGXT 189 broad.mit.edu 37 2 241814527 241814527 + Splice_Site SNP A A C TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr2:241814527A>C ENST00000307503.3 + 7 1069 c.682A>C c.(682-684)Aag>Cag p.K228Q NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 228 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TCTCCCCAGAAAGAAGATGTA 0.587 16 37 --- --- --- --- TBC1D5 9779 broad.mit.edu 37 3 17413717 17413717 + Missense_Mutation SNP G G T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr3:17413717G>T ENST00000253692.7 - 13 2509 c.845C>A c.(844-846)cCc>cAc p.P282H TBC1D5_ENST00000446818.2_Missense_Mutation_p.P282H|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P234H|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P282H|TBC1D5_ENST00000414318.2_Intron NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 282 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 AAAGGGAATGGGAGTCATCAG 0.328 3 70 --- --- --- --- IL12A 3592 broad.mit.edu 37 3 159710861 159710861 + Silent SNP A A G TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr3:159710861A>G ENST00000305579.2 + 3 634 c.327A>G c.(325-327)acA>acG p.T109T IL12A_ENST00000480787.1_Intron|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Silent_p.T109T NM_000882.3 NP_000873.2 P29459 IL12A_HUMAN interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) 75 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 9 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AAGATATCACAAAAGATAAAA 0.378 4 74 --- --- --- --- OPA1 4976 broad.mit.edu 37 3 193332788 193332788 + Silent SNP C C T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr3:193332788C>T ENST00000361510.2 + 2 543 c.309C>T c.(307-309)ctC>ctT p.L103L OPA1_ENST00000361150.2_Silent_p.L103L|OPA1_ENST00000392438.3_Silent_p.L103L|OPA1_ENST00000361715.2_Silent_p.L103L|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361908.3_Silent_p.L103L|OPA1_ENST00000361828.2_Silent_p.L103L NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 103 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) TTCGCTATCTCATACTAGGAT 0.403 5 60 --- --- --- --- PPARGC1A 10891 broad.mit.edu 37 4 23815648 23815648 + Silent SNP G G A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr4:23815648G>A ENST00000264867.2 - 8 1577 c.1458C>T c.(1456-1458)gaC>gaT p.D486D PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 486 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TGAAATCACTGTCCCTCAGTT 0.453 34 102 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46043172 46043172 + Missense_Mutation SNP C C A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr4:46043172C>A ENST00000295452.4 - 9 1398 c.1231G>T c.(1231-1233)Gat>Tat p.D411Y NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 411 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.D411N(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CTGGCACAATCTTTGCCCTCC 0.438 5 81 --- --- --- --- IL31RA 133396 broad.mit.edu 37 5 55204129 55204129 + Missense_Mutation SNP T T C TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr5:55204129T>C ENST00000396834.1 + 13 1830 c.1334T>C c.(1333-1335)aTt>aCt p.I445T IL31RA_ENST00000396836.2_Missense_Mutation_p.I464T|IL31RA_ENST00000359040.5_Missense_Mutation_p.I464T|IL31RA_ENST00000297015.3_Missense_Mutation_p.I322T|IL31RA_ENST00000490985.1_Missense_Mutation_p.I322T|IL31RA_ENST00000354961.4_Missense_Mutation_p.I445T|IL31RA_ENST00000447346.2_Missense_Mutation_p.I464T NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 432 Fibronectin type-III 5. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) GTGGAGAACATTGGCGTGAAG 0.483 5 51 --- --- --- --- KIF20A 10112 broad.mit.edu 37 5 137519025 137519025 + Missense_Mutation SNP G G T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr5:137519025G>T ENST00000394894.3 + 8 1226 c.1000G>T c.(1000-1002)Gat>Tat p.D334Y KIF20A_ENST00000508792.1_Missense_Mutation_p.D316Y NM_005733.2 NP_005724.1 O95235 KI20A_HUMAN kinesin family member 20A 334 Kinesin-motor. cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCTATGCGAGGATCAAAATGG 0.488 14 53 --- --- --- --- DSP 1832 broad.mit.edu 37 6 7575021 7575021 + Missense_Mutation SNP G G A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr6:7575021G>A ENST00000379802.3 + 17 2770 c.2429G>A c.(2428-2430)gGa>gAa p.G810E DSP_ENST00000418664.2_Missense_Mutation_p.G810E NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 810 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton p.G810E(1) biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TACCGCTGTGGACTGAAGGTA 0.438 9 37 --- --- --- --- TBC1D7 51256 broad.mit.edu 37 6 13321294 13321294 + Missense_Mutation SNP T T C TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr6:13321294T>C ENST00000607658.1 - 3 296 c.146A>G c.(145-147)aAg>aGg p.K49R TBC1D7_ENST00000379300.3_Missense_Mutation_p.K76R|TBC1D7_ENST00000356436.4_Missense_Mutation_p.K76R|TBC1D7_ENST00000379307.2_Missense_Mutation_p.K49R|TBC1D7_ENST00000343141.4_Missense_Mutation_p.K76R|TBC1D7_ENST00000607532.1_5'UTR Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 76 positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1) 22 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) CATCATCACCTTGGCATGGGA 0.463 17 257 --- --- --- --- ZNF311 282890 broad.mit.edu 37 6 28963131 28963131 + Missense_Mutation SNP T T C rs71732072 TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr6:28963131T>C ENST00000377179.3 - 7 2160 c.1648A>G c.(1648-1650)Act>Gct p.T550A ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 550 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 TTCTCTCCAGTGTGAATTCTT 0.448 4 72 --- --- --- --- OR2J2 26707 broad.mit.edu 37 6 29142063 29142063 + Silent SNP T T A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr6:29142063T>A ENST00000377167.2 + 1 753 c.651T>A c.(649-651)acT>acA p.T217T NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TCATTCTCACTACCTATGGTG 0.468 6 70 --- --- --- --- GPR110 266977 broad.mit.edu 37 6 46991864 46991864 + Missense_Mutation SNP A A G TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr6:46991864A>G ENST00000371253.2 - 5 582 c.367T>C c.(367-369)Tac>Cac p.Y123H GPR110_ENST00000371243.2_Missense_Mutation_p.Y123H|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 123 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 GTGTGAAGGTAGCAGTTCTGG 0.493 21 33 --- --- --- --- FAM83B 222584 broad.mit.edu 37 6 54805205 54805205 + Missense_Mutation SNP A A T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr6:54805205A>T ENST00000306858.7 + 5 1552 c.1436A>T c.(1435-1437)cAa>cTa p.Q479L NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 479 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTTTTGCAACAACGAATGCCA 0.403 4 111 --- --- --- --- MDN1 23195 broad.mit.edu 37 6 90363906 90363906 + Missense_Mutation SNP T T C TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr6:90363906T>C ENST00000369393.3 - 93 15753 c.15638A>G c.(15637-15639)aAg>aGg p.K5213R MDN1_ENST00000428876.1_Missense_Mutation_p.K5213R Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 5213 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GGTGCCCGACTTGATTTCCTC 0.522 46 103 --- --- --- --- SCAF8 22828 broad.mit.edu 37 6 155131226 155131226 + Nonsense_Mutation SNP C C G TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr6:155131226C>G ENST00000367178.3 + 12 1880 c.1304C>G c.(1303-1305)tCa>tGa p.S435* SCAF8_ENST00000417268.1_Nonsense_Mutation_p.S435*|SCAF8_ENST00000367186.4_Nonsense_Mutation_p.S501* NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 435 Arg-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 CGCTCCCGCTCAAGAGAAAGA 0.423 8 89 --- --- --- --- SNX13 23161 broad.mit.edu 37 7 17885263 17885263 + Silent SNP G G A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr7:17885263G>A ENST00000409389.1 - 12 1292 c.1120C>T c.(1120-1122)Ctg>Ttg p.L374L SNX13_ENST00000428135.3_Silent_p.L374L Q9Y5W8 SNX13_HUMAN sorting nexin 13 374 RGS. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) ATGCTGTCCAGGGGGACTGTG 0.323 4 12 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82545752 82545752 + Silent SNP C C T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr7:82545752C>T ENST00000333891.9 - 7 11887 c.11550G>A c.(11548-11550)caG>caA p.Q3850Q PCLO_ENST00000423517.2_Silent_p.Q3850Q|PCLO_ENST00000437081.1_Silent_p.Q570Q NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAATGCCATGCTGACTTTCTA 0.473 14 293 --- --- --- --- ZNF282 8427 broad.mit.edu 37 7 148921395 148921395 + Missense_Mutation SNP C C T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr7:148921395C>T ENST00000262085.3 + 8 1777 c.1672C>T c.(1672-1674)Cac>Tac p.H558Y ZNF282_ENST00000479907.1_3'UTR NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 558 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CTTCAACTGCCACTCGGGCCT 0.632 6 29 --- --- --- --- TMEM176A 55365 broad.mit.edu 37 7 150500789 150500789 + Missense_Mutation SNP T T C TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr7:150500789T>C ENST00000484928.1 + 5 1005 c.424T>C c.(424-426)Tat>Cat p.Y142H TMEM176A_ENST00000004103.3_Missense_Mutation_p.Y142H|TMEM176A_ENST00000461345.1_Missense_Mutation_p.Y83H Q96HP8 T176A_HUMAN transmembrane protein 176A 142 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGATTTCCGATATGGCTACTC 0.552 8 130 --- --- --- --- POLR3D 661 broad.mit.edu 37 8 22105704 22105704 + Silent SNP A A G TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr8:22105704A>G ENST00000397802.4 + 4 614 c.399A>G c.(397-399)ggA>ggG p.G133G POLR3D_ENST00000306433.4_Silent_p.G133G P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide D, 44kDa 133 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 13 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) CAGACATGGGACCTTCTCATA 0.468 7 34 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77775621 77775621 + Missense_Mutation SNP C C G TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr8:77775621C>G ENST00000521891.2 + 11 10119 c.9671C>G c.(9670-9672)tCt>tGt p.S3224C ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3198C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3179C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3175C NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3175 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAATCTCATCTGCTCTTTCA 0.413 HNSCC(33;0.089) 3 88 --- --- --- --- CHRAC1 54108 broad.mit.edu 37 8 141525311 141525311 + Missense_Mutation SNP G G C TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr8:141525311G>C ENST00000220913.5 + 3 563 c.361G>C c.(361-363)Gat>Cat p.D121H CHRAC1_ENST00000519533.1_3'UTR NM_017444.5 NP_059140.1 Q9NRG0 CHRC1_HUMAN chromatin accessibility complex 1 121 chromatin remodeling chromatin accessibility complex|epsilon DNA polymerase complex DNA-directed DNA polymerase activity|sequence-specific DNA binding ovary(2) 2 all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.107) GAATGACAATGATAATGAAAG 0.383 7 67 --- --- --- --- TMC1 117531 broad.mit.edu 37 9 75445550 75445550 + Missense_Mutation SNP G G C TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr9:75445550G>C ENST00000297784.5 + 23 2752 c.2212G>C c.(2212-2214)Gct>Cct p.A738P TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.A738P|TMC1_ENST00000340019.3_Missense_Mutation_p.A738P NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 738 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 TGTGTAGCAAGCTTTGGAGAA 0.303 6 15 --- --- --- --- TMC1 117531 broad.mit.edu 37 9 75445552 75445552 + Silent SNP T T G rs111387206 TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr9:75445552T>G ENST00000297784.5 + 23 2754 c.2214T>G c.(2212-2214)gcT>gcG p.A738A TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Silent_p.A738A|TMC1_ENST00000340019.3_Silent_p.A738A NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 738 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 TGTAGCAAGCTTTGGAGAACA 0.299 6 15 --- --- --- --- ARPC5L 81873 broad.mit.edu 37 9 127637421 127637421 + Missense_Mutation SNP G G C TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr9:127637421G>C ENST00000353214.2 + 5 1642 c.390G>C c.(388-390)tgG>tgC p.W130C ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.W130C Q9BPX5 ARP5L_HUMAN actin related protein 2/3 complex, subunit 5-like 130 regulation of actin filament polymerization cytoplasm|cytoskeleton actin binding large_intestine(2)|lung(1) 3 TACTCCAGTGGCACGAAAAGG 0.507 8 48 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55566503 55566503 + Missense_Mutation SNP G G T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr10:55566503G>T ENST00000373965.2 - 36 5285 c.4891C>A c.(4891-4893)Cca>Aca p.P1631T PCDH15_ENST00000414778.1_Missense_Mutation_p.P1628T NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTCCTTAGTGGCTTCACCGCT 0.448 HNSCC(58;0.16) 87 196 --- --- --- --- DDIT4 54541 broad.mit.edu 37 10 74034783 74034783 + Missense_Mutation SNP T T A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr10:74034783T>A ENST00000307365.3 + 3 737 c.536T>A c.(535-537)cTg>cAg p.L179Q RP11-442H21.2_ENST00000491934.2_RNA NM_019058.2 NP_061931.1 Q9NX09 DDIT4_HUMAN DNA-damage-inducible transcript 4 179 apoptosis cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1) 12 ACCCTCGTGCTGCGCCTGGAC 0.657 OREG0020262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 31 --- --- --- --- MRVI1 10335 broad.mit.edu 37 11 10647847 10647847 + Missense_Mutation SNP G G A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr11:10647847G>A ENST00000547195.1 - 8 1261 c.761C>T c.(760-762)cCg>cTg p.P254L MRVI1_ENST00000424001.1_Missense_Mutation_p.P30L|MRVI1_ENST00000527509.2_Missense_Mutation_p.P254L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P254L|MRVI1_ENST00000534266.2_Missense_Mutation_p.P30L|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000436272.1_Missense_Mutation_p.P318L|MRVI1_ENST00000545852.1_Missense_Mutation_p.P30L|MRVI1_ENST00000558540.1_Missense_Mutation_p.P30L|MRVI1_ENST00000423302.2_Missense_Mutation_p.P345L|MRVI1_ENST00000531107.1_Missense_Mutation_p.P337L|MRVI1_ENST00000421747.1_Missense_Mutation_p.P336L NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 318 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TGGACTTCTCGGCAGAGGGCT 0.672 7 12 --- --- --- --- CACNA1C 775 broad.mit.edu 37 12 2764406 2764406 + Splice_Site SNP T T G TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr12:2764406T>G ENST00000399655.1 + 34 4497 c.e34+2 CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCTCTTCAGGTGGGTCCCTGA 0.537 2 13 --- --- --- --- ADAMTS20 80070 broad.mit.edu 37 12 43896163 43896163 + Missense_Mutation SNP T T C TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr12:43896163T>C ENST00000389420.3 - 4 658 c.659A>G c.(658-660)aAc>aGc p.N220S ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N220S NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 220 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) TTCATTCATGTTGCTGTAGGT 0.323 6 60 --- --- --- --- C1QL4 338761 broad.mit.edu 37 12 49729849 49729849 + Missense_Mutation SNP C C T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr12:49729849C>T ENST00000334221.3 - 1 1122 c.412G>A c.(412-414)Gcc>Acc p.A138T NM_001008223.1 NP_001008224.1 Q86Z23 C1QL4_HUMAN complement component 1, q subcomponent-like 4 138 C1q. collagen large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 GCCTCGTAGGCGTTGCCCACG 0.652 10 14 --- --- --- --- EEF1DP3 196549 broad.mit.edu 37 13 32527092 32527092 + RNA SNP G G A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr13:32527092G>A ENST00000428783.1 + 0 792 CCCCGGCCAAGAAGCTAGCCA 0.617 4 87 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061243 38061243 + Missense_Mutation SNP T T A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr14:38061243T>A ENST00000250448.2 - 2 807 c.746A>T c.(745-747)gAc>gTc p.D249V FOXA1_ENST00000540786.1_Missense_Mutation_p.D216V|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 249 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GTTGCCGGAGTCCGGGTGCAG 0.667 13 21 --- --- --- --- YLPM1 56252 broad.mit.edu 37 14 75264385 75264385 + Silent SNP C C T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr14:75264385C>T ENST00000325680.7 + 5 2509 c.2385C>T c.(2383-2385)ccC>ccT p.P795P YLPM1_ENST00000238571.3_Silent_p.P600P|YLPM1_ENST00000552421.1_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 600 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GGCCAAGACCCAGATATGAAG 0.512 3 8 --- --- --- --- TRPM1 4308 broad.mit.edu 37 15 31359360 31359360 + Missense_Mutation SNP T T C TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr15:31359360T>C ENST00000542188.1 - 5 888 c.575A>G c.(574-576)aAa>aGa p.K192R TRPM1_ENST00000256552.6_Missense_Mutation_p.K175R|TRPM1_ENST00000397795.2_Missense_Mutation_p.K153R NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 153 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GGAGTGGTCTTTCAAGGCATC 0.478 3 86 --- --- --- --- B2M 567 broad.mit.edu 37 15 45003696 45003696 + Translation_Start_Site SNP A A T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr15:45003696A>T ENST00000558401.1 + 0 22 NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) ATATAAGTGGAGGCGTCGCGC 0.612 4 30 --- --- --- --- CAMTA2 23125 broad.mit.edu 37 17 4884982 4884982 + Missense_Mutation SNP T T G TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr17:4884982T>G ENST00000361571.5 - 6 964 c.553A>C c.(553-555)Aag>Cag p.K185Q CAMTA2_ENST00000381311.5_Missense_Mutation_p.K188Q|CAMTA2_ENST00000572543.1_Missense_Mutation_p.K191Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.K209Q|CAMTA2_ENST00000348066.3_Missense_Mutation_p.K186Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.K186Q NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 186 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 CACATGGGCTTCAGCTGTCCC 0.602 3 70 --- --- --- --- NEURL4 84461 broad.mit.edu 37 17 7229026 7229026 + Missense_Mutation SNP C C T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr17:7229026C>T ENST00000399464.2 - 7 1315 c.1300G>A c.(1300-1302)Gac>Aac p.D434N NEURL4_ENST00000570460.1_Missense_Mutation_p.D412N|NEURL4_ENST00000315614.7_Missense_Mutation_p.D434N NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCAATGTGGTCACCCTCCTAA 0.532 12 53 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37627877 37627877 + Nonsense_Mutation SNP C C T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr17:37627877C>T ENST00000447079.4 + 2 1825 c.1792C>T c.(1792-1794)Cag>Tag p.Q598* CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q598* NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 598 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 TGTGTCCTCTCAGGCAAATTC 0.488 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 60 136 --- --- --- --- STAT3 6774 broad.mit.edu 37 17 40477031 40477031 + Missense_Mutation SNP T T C TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr17:40477031T>C ENST00000264657.5 - 16 1726 c.1414A>G c.(1414-1416)Aat>Gat p.N472D STAT3_ENST00000404395.3_Missense_Mutation_p.N472D|STAT3_ENST00000585517.1_Missense_Mutation_p.N472D|STAT3_ENST00000389272.3_Missense_Mutation_p.N374D|STAT3_ENST00000588969.1_Missense_Mutation_p.N472D NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 472 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) GCCCAGGCATTTGGCATCTGA 0.577 Hyperimmunoglobulin E Recurrent Infection Syndrome 5 136 --- --- --- --- SECTM1 6398 broad.mit.edu 37 17 80282491 80282491 + Nonsense_Mutation SNP T T A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr17:80282491T>A ENST00000269389.3 - 3 720 c.370A>T c.(370-372)Aga>Tga p.R124* SECTM1_ENST00000580437.1_Nonsense_Mutation_p.R124* NM_003004.2 NP_002995.1 Q8WVN6 SCTM1_HUMAN secreted and transmembrane 1 124 immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade extracellular space|Golgi apparatus|integral to membrane|plasma membrane cytokine activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(1) 4 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) CTGTTATTTCTCTGGTGTCCC 0.642 3 66 --- --- --- --- C18orf8 29919 broad.mit.edu 37 18 21098913 21098913 + Missense_Mutation SNP G G T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr18:21098913G>T ENST00000269221.3 + 8 823 c.713G>T c.(712-714)gGa>gTa p.G238V C18orf8_ENST00000590868.1_Missense_Mutation_p.G190V NM_013326.3 NP_037458.3 Q96DM3 MIC1_HUMAN chromosome 18 open reading frame 8 238 p.G238V(1) endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 21 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) AACAGCACAGGAGCGGAGGTG 0.438 14 46 --- --- --- --- NCAN 1463 broad.mit.edu 37 19 19338463 19338463 + Silent SNP T T C TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr19:19338463T>C ENST00000252575.6 + 8 2133 c.2034T>C c.(2032-2034)taT>taC p.Y678Y NCAN_ENST00000538881.1_Silent_p.Y129Y NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CCAAGGTGTATTCCCTGCCTC 0.617 6 200 --- --- --- --- MAG 4099 broad.mit.edu 37 19 35786682 35786682 + Silent SNP G G A TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr19:35786682G>A ENST00000361922.4 + 4 363 c.213G>A c.(211-213)ccG>ccA p.P71P MAG_ENST00000537831.2_Silent_p.P46P|MAG_ENST00000597035.1_Intron|MAG_ENST00000392213.3_Silent_p.P71P NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 71 Ig-like V-type. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding p.P71P(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) ACTACCCCCCGGTGGTCTTCA 0.637 10 203 --- --- --- --- ZNF154 7710 broad.mit.edu 37 19 58213660 58213660 + Silent SNP A A G TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr19:58213660A>G ENST00000512439.2 - 3 853 c.657T>C c.(655-657)tgT>tgC p.C219C ZNF154_ENST00000426889.1_Silent_p.C219C|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron Q13106 ZN154_HUMAN zinc finger protein 154 219 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CACATTCATCACATTCATGAG 0.433 34 73 --- --- --- --- FGD1 2245 broad.mit.edu 37 X 54481902 54481902 + Missense_Mutation SNP C C T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chrX:54481902C>T ENST00000375135.3 - 12 2727 c.1994G>A c.(1993-1995)cGc>cAc p.R665H NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 665 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.R665L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CTCGAGGGAGCGCTGCTTTCC 0.557 6 16 --- --- --- --- CT45A5 441521 broad.mit.edu 37 X 134948025 134948025 + Missense_Mutation SNP G G T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chrX:134948025G>T ENST00000463085.2 - 3 389 c.300C>A c.(298-300)agC>agA p.S100R CT45A5_ENST00000491480.1_Missense_Mutation_p.S100R|CT45A5_ENST00000370724.3_Missense_Mutation_p.S100R|CT45A4_ENST00000420087.2_Intron Q6NSH3 CT455_HUMAN cancer/testis antigen family 45, member A5 endometrium(1)|large_intestine(2)|lung(6) 9 CAGAGAAATTGCTGGTAACAT 0.423 76 53 --- --- --- --- ALG14 199857 broad.mit.edu 37 1 95538385 95538385 + Frame_Shift_Del DEL C C - TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr1:95538385delC ENST00000370205.5 - 1 116 c.70delG c.(70-72)gtafs p.V25fs ALG14_ENST00000495856.1_5'UTR NM_144988.3 NP_659425.1 Q96F25 ALG14_HUMAN ALG14, UDP-N-acetylglucosaminyltransferase subunit dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|large_intestine(1)|lung(2)|pancreas(1) 6 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.0615)|Epithelial(280;0.139) CGAAGCACTACCCATATTCGC 0.577 9 146 --- --- --- --- UTP15 84135 broad.mit.edu 37 5 72866487 72866502 + Frame_Shift_Del DEL AGTGGAGAGTGTCCTA AGTGGAGAGTGTCCTA - TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr5:72866487_72866502delAGTGGAGAGTGTCCTA ENST00000296792.4 + 6 879_894 c.624_639delAGTGGAGAGTGTCCTA c.(622-639)ccagtggagagtgtcctafs p.PVESVL208fs UTP15_ENST00000508491.1_Frame_Shift_Del_p.PVESVL189fs|UTP15_ENST00000543251.1_Frame_Shift_Del_p.PVESVL18fs NM_001284431.1|NM_032175.2 NP_001271360.1|NP_115551.2 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) 208 rRNA processing cytoplasm|nucleolus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 15 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) ATGGGCAGCCAGTGGAGAGTGTCCTACTTTTCCCCT 0.398 9 162 --- --- --- --- SEMA6A 57556 broad.mit.edu 37 5 115813744 115813744 + Frame_Shift_Del DEL G G - TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr5:115813744delG ENST00000343348.6 - 14 2321 c.1534delC c.(1534-1536)cttfs p.L512fs SEMA6A_ENST00000257414.8_Frame_Shift_Del_p.L512fs|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Frame_Shift_Del_p.L44fs|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Frame_Shift_Del_p.L512fs NM_020796.3 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 512 Sema. apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) CACCGGCCAAGGGGAACCTTT 0.463 31 125 --- --- --- --- DMXL1 1657 broad.mit.edu 37 5 118507503 118507504 + Frame_Shift_Ins INS - - T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx d96380bd-80d2-4c64-ae3f-6f886936204e ece936c5-0f53-4010-9e99-8091c679d15b g.chr5:118507503_118507504insT ENST00000311085.8 + 25 6600_6601 c.6520_6521insT c.(6520-6522)ctgfs p.L2174fs DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.L2174fs NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2174 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TTCTAGCCCTCTGTCAGAGCAA 0.381 52 170 --- --- --- ---