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 DSCR9 0 broad.mit.edu 37 21 38593635 38593635 + RNA SNP G G C TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr21:38593635G>C ENST00000454482.2 + 0 1242 NR_026719.2 CTAGGCAGGCGCGCCCCGCCC 0.642000 16 26 0 0 1 0 0 MCMDC2 157777 broad.mit.edu 37 8 67786786 67786786 + Missense_Mutation SNP C C G TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr8:67786786C>G ENST00000422365.2 + 4 421 c.250C>G c.(250-252)Ctc>Gtc p.L84V MCMDC2_ENST00000541540.1_Missense_Mutation_p.L21V|MCMDC2_ENST00000492775.1_Missense_Mutation_p.L84V|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L84V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L84V|MCMDC2_ENST00000469823.1_3'UTR NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 84 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 TGTTAAGACTCTCTCATTAAT 0.294000 4 36 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102551071 102551071 + Missense_Mutation SNP C C G TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr14:102551071C>G ENST00000334701.7 - 6 1575 c.1294G>C c.(1294-1296)Gga>Cga p.G432R HSP90AA1_ENST00000216281.8_Missense_Mutation_p.G310R|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.G131R NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 310 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TAGAATTCTCCGTACTCCTCA 0.418000 57 89 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 4 152 0 0 1 0 0 GRM8 0 broad.mit.edu 37 7 126882812 126882812 + Silent SNP G G A TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr7:126882812G>A ENST00000339582.2 - 2 1255 c.447C>T c.(445-447)ggC>ggT p.G149G GRM8_ENST00000405249.1_Silent_p.G149G|GRM8_ENST00000358373.3_Silent_p.G149G|GRM8_ENST00000444921.2_Silent_p.G149G O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 149 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CACCTATGACGCCAGAAATCT 0.438000 HNSCC(24;0.065) 32 56 0 0 1 0 0 HIST1H4B 8366 broad.mit.edu 37 6 26027174 26027174 + Missense_Mutation SNP C C A TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr6:26027174C>A ENST00000377364.3 - 1 306 c.307G>T c.(307-309)Ggt>Tgt p.G103C NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1, H4b 103 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 13 AAAGATTAACCGCCGAAGCCG 0.537000 OREG0017238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 35 4.96729e-08 5.37004e-08 1 1 0 HERC2 8924 broad.mit.edu 37 15 28463681 28463681 + Silent SNP G G A TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr15:28463681G>A ENST00000261609.7 - 38 6090 c.5982C>T c.(5980-5982)tgC>tgT p.C1994C NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1994 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.C1994C(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCAGCAGTCCGCATAAAGTCT 0.517000 4 145 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36018434 36018434 + Silent SNP C C T TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr19:36018434C>T ENST00000452271.2 - 1 778 c.750G>A c.(748-750)gcG>gcA p.A250A SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 123 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGGCCTGCCCCGCAGCATGGT 0.627000 3 5 0 0 1 0 0 IGHG2 0 broad.mit.edu 37 14 106110891 106110891 + RNA SNP C C G TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr14:106110891C>G ENST00000390545.2 - 0 236 AGGTGTAGGTCTGGGTGCCGA 0.612000 4 106 0 0 1 0 0 TMEM174 134288 broad.mit.edu 37 5 72469163 72469163 + Silent SNP C C T rs140016650 TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr5:72469163C>T ENST00000296776.5 + 1 142 c.93C>T c.(91-93)tcC>tcT p.S31S TMEM174_ENST00000511737.1_3'UTR NM_153217.2 NP_694949.1 Q8WUU8 TM174_HUMAN transmembrane protein 174 31 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) TCCAGGTGTCCGATGATGACA 0.567000 63 93 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165952053 165952053 + Missense_Mutation SNP T T C TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr2:165952053T>C ENST00000360093.3 - 25 4890 c.4399A>G c.(4399-4401)Atc>Gtc p.I1467V SCN3A_ENST00000409101.3_Missense_Mutation_p.I1418V|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1467V NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1467 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TTATCTATGATGACACCAATG 0.333000 29 46 0 0 1 0 0 JHDM1D 0 broad.mit.edu 37 7 139790982 139790982 + Missense_Mutation SNP C C T TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr7:139790982C>T ENST00000397560.2 - 20 2835 c.2738G>A c.(2737-2739)cGt>cAt p.R913H NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 913 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding p.R913H(1) central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TTTTTTTGGACGTTTACCTAT 0.423000 18 25 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 50 0 0 1 0 0 WASF1 8936 broad.mit.edu 37 6 110426721 110426721 + Missense_Mutation SNP C C T TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr6:110426721C>T ENST00000392589.1 - 8 1438 c.602G>A c.(601-603)cGg>cAg p.R201Q WASF1_ENST00000392587.2_Missense_Mutation_p.R201Q|WASF1_ENST00000359451.2_Missense_Mutation_p.R201Q|WASF1_ENST00000392586.1_Missense_Mutation_p.R201Q|WASF1_ENST00000392588.1_Missense_Mutation_p.R201Q NM_003931.2 NP_003922.1 Q92558 WASF1_HUMAN WAS protein family, member 1 201 actin filament polymerization|cellular component movement actin cytoskeleton actin binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) CCATTCTCGCCGCCTGTCATG 0.448000 25 51 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59508192 59508192 + Missense_Mutation SNP C C T TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr8:59508192C>T ENST00000038176.3 - 22 2031 c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K NSMAF_ENST00000427130.2_Missense_Mutation_p.E638K NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 607 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) TTGCTTTCTTCGGTCAGGTCT 0.388000 21 50 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51746586 51746586 + Missense_Mutation SNP G G A TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr3:51746586G>A ENST00000395052.3 + 3 782 c.548G>A c.(547-549)cGc>cAc p.R183H GRM2_ENST00000442933.2_Missense_Mutation_p.R183H|GRM2_ENST00000475478.1_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 183 synaptic transmission integral to plasma membrane p.R183H(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) TACTTTGCCCGCACAGTGCCT 0.542000 5 136 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48679866 48679866 + Missense_Mutation SNP C C T TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr3:48679866C>T ENST00000544264.1 - 32 8885 c.8605G>A c.(8605-8607)Gac>Aac p.D2869N CELSR3_ENST00000164024.4_Missense_Mutation_p.D2864N Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2864 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCAGTGTGGTCAGCGGCTGAG 0.622000 7 19 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41621368 41621368 + Silent SNP G G A rs139697872 TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr4:41621368G>A ENST00000313860.7 + 8 900 c.846G>A c.(844-846)gcG>gcA p.A282A LIMCH1_ENST00000513024.1_Silent_p.A123A|LIMCH1_ENST00000509638.1_Silent_p.A123A|LIMCH1_ENST00000508501.1_Silent_p.A282A|LIMCH1_ENST00000503057.1_Silent_p.A123A|LIMCH1_ENST00000509277.1_Silent_p.A128A|LIMCH1_ENST00000509454.1_Silent_p.A130A|LIMCH1_ENST00000512820.1_Silent_p.A282A|LIMCH1_ENST00000514096.1_Silent_p.A135A|LIMCH1_ENST00000512632.1_Silent_p.A282A|LIMCH1_ENST00000381753.4_Silent_p.A128A|LIMCH1_ENST00000511496.1_Silent_p.A123A|LIMCH1_ENST00000512946.1_Silent_p.A282A|LIMCH1_ENST00000396595.3_Silent_p.A128A NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 282 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 ACGTCCCCGCGCCTCTGAGAA 0.577000 21 43 0 0 1 0 0 LINC00478 0 broad.mit.edu 37 21 17566914 17566914 + RNA SNP A A G TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr21:17566914A>G ENST00000458468.1 + 0 409 NR_027790.1 GGGGCAGAAAATAGCACACTT 0.403000 14 32 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101757394 101757394 + Missense_Mutation SNP A A G TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr12:101757394A>G ENST00000261637.4 + 45 6005 c.5831A>G c.(5830-5832)aAg>aGg p.K1944R NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1944 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GCTGAAGAGAAGGAAGTAAAG 0.393000 18 34 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 54 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767702 77767702 + Missense_Mutation SNP C C T TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr8:77767702C>T ENST00000521891.2 + 10 8993 c.8545C>T c.(8545-8547)Cca>Tca p.P2849S ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2804S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2804S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2823S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2804 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) GGATACTCTGCCAAAACCTGC 0.488000 HNSCC(33;0.089) 13 21 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54339808 54339808 + Missense_Mutation SNP G G T TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr18:54339808G>T ENST00000254442.3 + 2 273 c.62G>T c.(61-63)tGc>tTc p.C21F WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.C21F NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 21 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) CCCACACATTGCATCTCAGCC 0.433000 25 64 3.17567e-06 3.34281e-06 1 1 0 AEBP1 165 broad.mit.edu 37 7 44146386 44146386 + Silent SNP G G A rs144974496 TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr7:44146386G>A ENST00000223357.3 + 2 800 c.495G>A c.(493-495)ccG>ccA p.P165P NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 165 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 AGAAGCCCCCGTCAGGGAAGA 0.652000 8 7 0 0 1 0 0 UIMC1 51720 broad.mit.edu 37 5 176395642 176395642 + Missense_Mutation SNP T T C TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr5:176395642T>C ENST00000377219.2 - 6 1280 c.1114A>G c.(1114-1116)Aaa>Gaa p.K372E UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377227.4_Missense_Mutation_p.K372E|UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Missense_Mutation_p.K372E NM_016290.4 NP_057374.3 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 372 AIR. double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCTTGGTTTTTGAGTGCCAG 0.443000 54 85 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 6 86 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237877 29237877 + Silent SNP G G A TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr14:29237877G>A ENST00000382535.3 + 2 1761 c.1392G>A c.(1390-1392)acG>acA p.T464T FOXG1_ENST00000313071.4_Silent_p.T464T P55316 FOXG1_HUMAN forkhead box G1 464 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|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 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CAAGTTTTACGACGGGACTGT 0.547000 52 69 0 0 1 0 0 SNTB1 6641 broad.mit.edu 37 8 121823566 121823566 + Missense_Mutation SNP T T C TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr8:121823566T>C ENST00000395601.3 - 2 932 c.518A>G c.(517-519)cAc>cGc p.H173R SNTB1_ENST00000517992.1_Missense_Mutation_p.H173R|SNTB1_ENST00000519177.1_5'UTR NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 173 PDZ.|PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) CGCCTCGTCGTGGGTGGCGTC 0.692000 36 51 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69961683 69961683 + Silent SNP C C T TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr10:69961683C>T ENST00000358913.5 + 18 4079 c.3591C>T c.(3589-3591)ggC>ggT p.G1197G MYPN_ENST00000354393.2_Silent_p.G922G|MYPN_ENST00000540630.1_Silent_p.G1197G NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 1197 Ig-like 5.|Interaction with ACTN. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GCGTGATAGGCATGCCCCCAC 0.562000 36 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179580332 179580332 + Silent SNP C C T TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr2:179580332C>T ENST00000589042.1 - 89 26033 c.25809G>A c.(25807-25809)tcG>tcA p.S8603S TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S7359S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.S8286S|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8286 Ig-like 68. 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) GCACAGCCACCGAGTCAACGA 0.468000 17 28 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1159382 1159382 + Silent SNP C C T TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr11:1159382C>T ENST00000356191.2 + 16 1350 c.1350C>T c.(1348-1350)caC>caT p.H450H mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) ACACGGTGCACGGCGACTGCA 0.662000 31 48 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144522387 144522389 + In_Frame_Del DEL GAG GAG - rs2272753 byFrequency TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr8:144522387_144522389delGAG ENST00000262577.5 - 11 2668_2670 c.2637_2639delCTC c.(2635-2640)tca>tc p.SS879del NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 879 Poly-Ser. mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) Gggaggggatgaggaggaggagg 0.655 2 4 --- --- --- --- SETD8 387893 broad.mit.edu 37 12 123879653 123879653 + Frame_Shift_Del DEL A A - TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr12:123879653delA ENST00000402868.3 + 4 775 c.349delA c.(349-351)aafs p.K117fs SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Frame_Shift_Del_p.K117fs Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 158 cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) ACAGAAGATCAAAGACGCCAG 0.502 2 4 --- --- --- --- CORO2B 10391 broad.mit.edu 37 15 68937526 68937541 + Frame_Shift_Del DEL TCCAAGTTCCGGAATG TCCAAGTTCCGGAATG - TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr15:68937526_68937541delTCCAAGTTCCGGAATG ENST00000543950.1 + 2 382_397 c.28_43delTCCAAGTTCCGGAATG c.(28-45)tcfs p.SKFRNV10fs CORO2B_ENST00000540068.1_Frame_Shift_Del_p.SKFRNV10fs|CORO2B_ENST00000566799.1_Frame_Shift_Del_p.SKFRNV15fs|CORO2B_ENST00000261861.5_Frame_Shift_Del_p.SKFRNV10fs NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 15 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding p.R18Q(1) kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 ATACCGTAGCTCCAAGTTCCGGAATGTCTACGGGAA 0.611 5 9 --- --- --- --- ABCC6P1 0 broad.mit.edu 37 16 18593648 18593649 + RNA INS - - A TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d4f8ba6-7ff3-40ec-af29-7b3450f813a2 b4ade944-957e-4ec1-a880-e330b8de3980 g.chr16:18593648_18593649insA ENST00000546162.2 + 0 805 NR_003569.1 accctgtctcgaaaaaaaaaaa 0.505 3 5 --- --- --- ---