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 ARID4B 51742 broad.mit.edu 37 1 235345584 235345584 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:235345584C>A ENST00000264183.3 - 20 3147 c.2650G>T c.(2650-2652)Gaa>Taa p.E884* ARID4B_ENST00000349213.3_Nonsense_Mutation_p.E798*|ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E884* NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 884 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TTTCTTTTTTCCTCCAAACCA 0.343000 7 101 0.00307968 0.00315885 0.003080 1 0 GRAMD1A 57655 broad.mit.edu 37 19 35502416 35502416 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:35502416C>T ENST00000599564.1 + 8 896 c.825C>T c.(823-825)ttC>ttT p.F275F GRAMD1A_ENST00000317991.5_Silent_p.F188F|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000411896.2_Silent_p.F181F Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 188 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ACCGCTGCTTCCTCCTCATCT 0.617000 11 129 0 0 0.002450 0 0 SDHAP1 255812 broad.mit.edu 37 3 195698269 195698269 + RNA SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:195698269G>C ENST00000427841.1 - 0 1603 NR_003264.2 CAACATTCGTGACAGATTCTT 0.398000 7 71 0 0 0.003080 0 0 IMPA2 3613 broad.mit.edu 37 18 12028874 12028874 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr18:12028874C>T ENST00000269159.3 + 7 875 c.633C>T c.(631-633)ctC>ctT p.L211L IMPA2_ENST00000589238.1_Silent_p.L22L|IMPA2_ENST00000588927.1_Silent_p.L22L NM_014214.2 NP_055029.1 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 211 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1) 12 Lithium(DB01356) CATTGGCACTCTGCCACCTGG 0.617000 42 63 0 0 0.010771 0 0 RIPK1 8737 broad.mit.edu 37 6 3081283 3081283 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:3081283G>C ENST00000259808.4 + 4 690 c.392G>C c.(391-393)gGa>gCa p.G131A RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Intron|RIPK1_ENST00000380409.2_Missense_Mutation_p.G131A Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 131 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) TACTTACATGGAAAAGGCGTG 0.368000 13 42 0 0 0.001368 0 0 FLG2 388698 broad.mit.edu 37 1 152323370 152323370 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:152323370G>A ENST00000388718.5 - 3 6964 c.6892C>T c.(6892-6894)Cat>Tat p.H2298Y FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2298 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCTGTCCATGAGTAGTTTCC 0.483000 25 313 0 0 0.002780 0 0 MALAT1 378938 broad.mit.edu 37 11 65272924 65272924 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65272924G>A ENST00000534336.1 + 0 7692 NR_002819.2 AATCTCAAGCGGTGCTTGAAG 0.463000 15 70 0 0 0.008871 0 0 WDR31 114987 broad.mit.edu 37 9 116083793 116083793 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:116083793G>A ENST00000374193.4 - 8 882 c.636C>T c.(634-636)ctC>ctT p.L212L WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Silent_p.L87L|WDR31_ENST00000341761.4_Silent_p.L211L NM_001012361.2|NM_145241.3 NP_001012361.1|NP_660284.1 Q8NA23 WDR31_HUMAN WD repeat domain 31 212 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 AAGCCCACCTGAGGGTTTTAT 0.478000 13 26 0 0 0.002450 0 0 ACIN1 22985 broad.mit.edu 37 14 23549752 23549752 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:23549752C>G ENST00000262710.1 - 6 1293 c.966G>C c.(964-966)gaG>gaC p.E322D ACIN1_ENST00000555053.1_Missense_Mutation_p.E322D|ACIN1_ENST00000457657.1_Missense_Mutation_p.E282D|ACIN1_ENST00000605057.1_Missense_Mutation_p.E264D NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 322 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TTTTGGGTCTCTCATCCATCA 0.463000 30 83 0 0 0.007291 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104245125 104245125 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:104245125C>G ENST00000202556.9 - 4 593 c.311G>C c.(310-312)aGa>aCa p.R104T NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 104 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TATTACATTTCTCTGAGTTCG 0.363000 17 42 0 0 0.006122 0 0 IGSF21 84966 broad.mit.edu 37 1 18703351 18703351 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:18703351G>A ENST00000251296.1 + 8 1542 c.1159G>A c.(1159-1161)Gac>Aac p.D387N IGSF21_ENST00000473951.1_3'UTR NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 387 Ig-like 2. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCGCCTCCTGGACGGCAGCGC 0.657000 20 43 0 0 0.007413 0 0 OR4D2 124538 broad.mit.edu 37 17 56247319 56247319 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:56247319C>G ENST00000545221.1 + 1 303 c.303C>G c.(301-303)atC>atG p.I101M NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 TGGGTCAGATCTTCTTCTTCC 0.527000 10 121 0 0 0.006214 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709486 31709486 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:31709486G>A ENST00000382835.2 - 1 526 c.501C>T c.(499-501)aaC>aaT p.N167N NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 167 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 TGGATTCAGGGTTCTGAGACT 0.478000 31 78 0 0 0.010818 0 0 TTL 150465 broad.mit.edu 37 2 113258890 113258890 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:113258890G>C ENST00000233336.5 + 4 768 c.577G>C c.(577-579)Gag>Cag p.E193Q NM_153712.4 NP_714923.1 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 193 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity breast(1)|large_intestine(2)|ovary(1) 4 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) TCTGCTGCTTGAGCCAGGTCA 0.463000 T ETV6 ALL 13 49 0 0 0.001368 0 0 SETD5 55209 broad.mit.edu 37 3 9517533 9517533 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:9517533C>T ENST00000402466.1 + 24 4561 c.3793C>T c.(3793-3795)Cag>Tag p.Q1265* SETD5_ENST00000402198.1_Nonsense_Mutation_p.Q1363*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.Q1265*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.Q1382*|SETD5_ENST00000406341.1_Nonsense_Mutation_p.Q1363* Q9C0A6 SETD5_HUMAN SET domain containing 5 1363 Ser-rich. NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) TTCAGTTTCTCAGTCCAGCAC 0.552000 19 22 0 0 0.008871 0 0 C4orf45 152940 broad.mit.edu 37 4 159836377 159836377 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:159836377G>A ENST00000434826.2 - 4 575 c.491C>T c.(490-492)tCa>tTa p.S164L C4orf45_ENST00000508011.1_5'UTR NM_152543.2 NP_689756.2 Q96LM5 CD045_HUMAN chromosome 4 open reading frame 45 164 large_intestine(2)|lung(3) 5 TCTTGGCAATGATGACTTACA 0.423000 12 24 0 0 0.001855 0 0 SELO 83642 broad.mit.edu 37 22 50654234 50654234 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:50654234G>A ENST00000380903.2 + 6 1498 c.1440G>A c.(1438-1440)ctG>ctA p.L480L RP3-402G11.5_ENST00000492092.1_3'UTR NM_031454.1 NP_113642.1 TGGCCAGGCTGATGGAGCAGT 0.587000 31 63 0 0 0.007291 0 0 NEB 4703 broad.mit.edu 37 2 152381070 152381070 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:152381070C>G ENST00000397345.3 - 152 22535 c.22333G>C c.(22333-22335)Gac>Cac p.D7445H NEB_ENST00000409198.1_Missense_Mutation_p.D5744H|NEB_ENST00000604864.1_Missense_Mutation_p.D7445H|NEB_ENST00000172853.10_Missense_Mutation_p.D5744H|NEB_ENST00000427231.2_Missense_Mutation_p.D7445H|NEB_ENST00000603639.1_Missense_Mutation_p.D7445H NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5744 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCTTGATGTCTGGTCGATCA 0.502000 49 146 0 0 0.003610 0 0 MIB1 57534 broad.mit.edu 37 18 19429231 19429231 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr18:19429231C>G ENST00000261537.6 + 17 2732 c.2468C>G c.(2467-2469)tCa>tGa p.S823* MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 823 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) ATGGTGTGCTCAGATATGAAG 0.378000 50 127 0 0 0.003610 0 0 PACSIN2 11252 broad.mit.edu 37 22 43272287 43272287 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:43272287C>G ENST00000263246.3 - 10 1405 c.1204G>C c.(1204-1206)Gag>Cag p.E402Q PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000407585.1_Missense_Mutation_p.E361Q|PACSIN2_ENST00000403744.3_Missense_Mutation_p.E402Q|PACSIN2_ENST00000402229.1_Missense_Mutation_p.E402Q|PACSIN2_ENST00000337959.4_Missense_Mutation_p.E361Q NM_001184970.1 NP_001171899.1 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in neurons 2 402 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) TTGTTAGACTCATCGTCTGAC 0.617000 14 51 0 0 0.003163 0 0 CDH13 1012 broad.mit.edu 37 16 83636065 83636065 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:83636065G>C ENST00000566620.1 + 8 1257 c.967G>C c.(967-969)Gaa>Caa p.E323Q CDH13_ENST00000268613.10_Missense_Mutation_p.E370Q|CDH13_ENST00000428848.3_Missense_Mutation_p.E284Q NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 323 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GTAGACTCTGGAAAATCCCAA 0.463000 67 241 0 0 0.003610 0 0 LRRC37B 114659 broad.mit.edu 37 17 30376383 30376383 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:30376383G>C ENST00000327564.7 + 10 2788 c.2727G>C c.(2725-2727)caG>caC p.Q909H LRRC37B_ENST00000543378.2_Missense_Mutation_p.Q800H|LRRC37B_ENST00000394713.3_Missense_Mutation_p.Q831H|LRRC37B_ENST00000341671.7_Missense_Mutation_p.Q882H|LRRC37B_ENST00000584368.1_Missense_Mutation_p.Q843H Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 882 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) ACATGGAACAGAATGAACAGA 0.433000 4 9 0 0 0.009096 0 0 FCGR2A 2212 broad.mit.edu 37 1 161476260 161476260 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:161476260C>G ENST00000271450.6 + 3 281 c.243C>G c.(241-243)ctC>ctG p.L81L FCGR2A_ENST00000367972.4_Silent_p.L80L|FCGR2A_ENST00000467525.1_3'UTR NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 81 Ig-like C2-type 1. integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATGGGAATCTCATTCCCACCC 0.597000 13 75 0 0 0.006122 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662840 662840 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:662840G>A ENST00000266383.5 + 14 1764 c.1751G>A c.(1750-1752)gGa>gAa p.G584E NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 584 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CAGGCCCCTGGAAGGGGCTGG 0.642000 9 36 0 0 0.008291 0 0 USPL1 10208 broad.mit.edu 37 13 31232715 31232715 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:31232715C>T ENST00000255304.4 + 9 2843 c.2501C>T c.(2500-2502)tCg>tTg p.S834L NM_005800.4 NP_005791.3 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 834 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) GGCCCTCCATCGTCTAATGGC 0.507000 17 70 0 0 0.006122 0 0 CCNG2 901 broad.mit.edu 37 4 78079754 78079754 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:78079754C>G ENST00000316355.5 + 2 425 c.69C>G c.(67-69)gtC>gtG p.V23V CCNG2_ENST00000354403.5_Silent_p.V23V|CCNG2_ENST00000509972.1_Silent_p.V23V|CCNG2_ENST00000502280.1_Silent_p.V23V|CCNG2_ENST00000395640.1_Silent_p.V23V|CCNG2_ENST00000497512.1_3'UTR NM_004354.2 NP_004345.1 Q16589 CCNG2_HUMAN cyclin G2 23 cell cycle checkpoint|cell division|mitosis cytoplasm breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 TGTTGAACGTCTACCTGGAAC 0.478000 28 87 0 0 0.005443 0 0 BID 637 broad.mit.edu 37 22 18220787 18220787 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:18220787C>T ENST00000317361.7 - 5 1036 c.710G>A c.(709-711)aGa>aAa p.R237K BID_ENST00000399774.3_Missense_Mutation_p.R191K|BID_ENST00000399767.1_Missense_Mutation_p.R95K|BID_ENST00000342111.5_3'UTR|BID_ENST00000551952.1_Missense_Mutation_p.R191K|BID_ENST00000399765.1_Missense_Mutation_p.R95K NM_197966.2 NP_932070.1 P55957 BID_HUMAN BH3 interacting domain death agonist 191 activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria cytosol|membrane fraction|mitochondrial outer membrane death receptor binding p.R237K(1) large_intestine(2)|ovary(1) 3 all_epithelial(15;0.198) Lung(27;0.0419) TCTTACATTTCTGGCTAAGCT 0.552000 24 66 0 0 0.002780 0 0 LILRA6 79168 broad.mit.edu 37 19 54744933 54744933 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:54744933G>A ENST00000440558.2 - 5 777 c.729C>T c.(727-729)ctC>ctT p.L243L LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.L243L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000396365.2_Silent_p.L243L|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Silent_p.L243L leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 p.L243L(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGCCACACTGGAGGGTCAGGC 0.637000 13 95 0 0 0.003163 0 0 ZNF766 90321 broad.mit.edu 37 19 52793884 52793884 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:52793884C>T ENST00000439461.1 + 4 883 c.840C>T c.(838-840)ttC>ttT p.F280F CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Silent_p.F295F|ZNF766_ENST00000359102.4_Silent_p.F295F NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) GCAAGGTCTTCAGTCGAATTA 0.403000 7 24 0 0 0.001984 0 0 FLG 2312 broad.mit.edu 37 1 152283709 152283709 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:152283709C>G ENST00000368799.1 - 3 3688 c.3653G>C c.(3652-3654)aGa>aCa p.R1218T FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1218 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACGAGTTTGTCTGCTTGCACT 0.552000 Ichthyosis 126 378 0 0 0.003610 0 0 ZNF608 57507 broad.mit.edu 37 5 123984351 123984351 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:123984351G>A ENST00000306315.5 - 4 2161 c.1726C>T c.(1726-1728)Cat>Tat p.H576Y ZNF608_ENST00000504926.1_Missense_Mutation_p.H149Y NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 576 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) AAGTGTGCATGAGCCTGGTGG 0.493000 28 89 0 0 0.006320 0 0 ODAM 54959 broad.mit.edu 37 4 71068032 71068032 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:71068032G>A ENST00000396094.2 + 8 682 c.634G>A c.(634-636)Gaa>Aaa p.E212K NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 212 biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 CACAGCTCCTGAAATTGCTGT 0.373000 12 34 0 0 0.001855 0 0 TMEM108 66000 broad.mit.edu 37 3 133109176 133109176 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:133109176G>A ENST00000321871.6 + 5 1813 c.1603G>A c.(1603-1605)Gag>Aag p.E535K TMEM108_ENST00000508711.1_Missense_Mutation_p.E65K|TMEM108_ENST00000393130.3_Missense_Mutation_p.E535K NM_001136469.1|NM_023943.2 NP_001129941.1|NP_076432.1 Q6UXF1 TM108_HUMAN transmembrane protein 108 535 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TGAAACCTCTGAGGTAATGAG 0.532000 43 227 0 0 0.008740 0 0 GBA2 57704 broad.mit.edu 37 9 35737182 35737182 + Missense_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:35737182T>A ENST00000378103.3 - 17 3291 c.2768A>T c.(2767-2769)aAc>aTc p.N923I GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.N929I|GBA2_ENST00000378088.1_3'UTR NM_020944.2 NP_065995.1 Q9HCG7 GBA2_HUMAN glucosidase, beta (bile acid) 2 923 bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGGGCTCAGGTTTGCCATGGC 0.572000 10 89 0 0 0.008291 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12823101 12823101 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:12823101G>A ENST00000379672.5 + 6 717 c.417G>A c.(415-417)agG>agA p.R139R ARHGAP44_ENST00000340825.3_Silent_p.R139R|ARHGAP44_ENST00000262444.9_Silent_p.R139R NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 139 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 AAAAGCAGAGGAAACACTTAG 0.378000 3 12 0 0 0.004672 0 0 OSCP1 127700 broad.mit.edu 37 1 36883811 36883811 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:36883811C>G ENST00000356637.5 - 11 1162 c.1099G>C c.(1099-1101)Gag>Cag p.E367Q OSCP1_ENST00000433045.2_Missense_Mutation_p.E312Q|OSCP1_ENST00000235532.5_Missense_Mutation_p.E357Q|OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000495222.1_5'UTR Q8WVF1 OSCP1_HUMAN organic solute carrier partner 1 367 transport basal plasma membrane p.E367Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 22 TCCGTGATCTCAAACTCCCCC 0.577000 7 36 0 0 0.001984 0 0 LEPREL1 55214 broad.mit.edu 37 3 189681803 189681803 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:189681803C>T ENST00000319332.5 - 14 2175 c.1978G>A c.(1978-1980)Gga>Aga p.G660R LEPREL1_ENST00000427335.2_Missense_Mutation_p.G479R NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 660 Fe2OG dioxygenase. collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CACCTCTTTCCCTTGGTGACT 0.493000 26 151 0 0 0.004656 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959828 45959828 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:45959828G>A ENST00000400375.1 - 1 250 c.206C>T c.(205-207)tCa>tTa p.S69L TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 69 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 GGTGCAGCCTGATTGGCAGGG 0.716000 20 75 0 0 0.012319 0 0 WDFY3 23001 broad.mit.edu 37 4 85672736 85672736 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:85672736G>C ENST00000322366.6 - 36 6280 c.5873C>G c.(5872-5874)gCt>gGt p.A1958G WDFY3_ENST00000295888.4_Missense_Mutation_p.A1958G Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1958 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GAACTTTTTAGCCGGGTGATT 0.458000 38 91 0 0 0.004289 0 0 CC2D1A 54862 broad.mit.edu 37 19 14020719 14020719 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:14020719C>T ENST00000318003.7 + 2 385 c.144C>T c.(142-144)ttC>ttT p.F48F CC2D1A_ENST00000589606.1_Silent_p.F48F NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 48 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) AGGCTGAGTTCTTGGCTTTGG 0.567000 20 67 0 0 0.008871 0 0 TMEM53 79639 broad.mit.edu 37 1 45120816 45120816 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:45120816G>T ENST00000372237.3 - 3 412 c.249C>A c.(247-249)atC>atA p.I83I TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Silent_p.I83I NM_024587.2 NP_078863.2 Q6P2H8 TMM53_HUMAN transmembrane protein 53 83 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1) 10 Acute lymphoblastic leukemia(166;0.155) GAAGTGAAGGGATACCCAGTG 0.552000 OREG0013446 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 47 4.68919e-08 4.96942e-08 0.008291 1 0 AIP 9049 broad.mit.edu 37 11 67254633 67254633 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:67254633G>C ENST00000279146.3 + 2 374 c.256G>C c.(256-258)Gcc>Ccc p.A86P NM_003977.2 NP_003968.2 O00170 AIP_HUMAN aryl hydrocarbon receptor interacting protein 86 PPIase FKBP-type. protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2) 7 AGGGGAGATTGCCCAGTTCCT 0.582000 Familial Isolated Pituitary Adenoma 11 129 0 0 0.001368 0 0 ZNF10 7556 broad.mit.edu 37 12 133732691 133732691 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:133732691C>T ENST00000248211.6 + 5 1081 c.859C>T c.(859-861)Cat>Tat p.H287Y ZNF10_ENST00000402932.2_Missense_Mutation_p.H153Y|ZNF10_ENST00000426665.2_Missense_Mutation_p.H287Y|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TCAGCTTATTCATACTGGAGA 0.418000 16 39 0 0 0.004990 0 0 TNK2 10188 broad.mit.edu 37 3 195595101 195595101 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:195595101C>G ENST00000333602.6 - 12 2640 c.2023G>C c.(2023-2025)Gag>Cag p.E675Q TNK2_ENST00000428187.1_Missense_Mutation_p.E707Q|TNK2_ENST00000392400.1_Missense_Mutation_p.E675Q|TNK2_ENST00000381916.2_Missense_Mutation_p.E753Q NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 675 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CGCGCCTGCTCAGGCACAAAG 0.682000 10 72 0 0 0.006214 0 0 TMC2 117532 broad.mit.edu 37 20 2560666 2560666 + Silent SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:2560666T>A ENST00000358864.1 + 7 813 c.798T>A c.(796-798)ctT>ctA p.L266L NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 266 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 ACCTTGTCCTTTTTGGCTTAA 0.393000 6 82 0 0 0.003080 0 0 MCTS1 28985 broad.mit.edu 37 X 119738100 119738100 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:119738100G>C ENST00000371317.5 + 1 266 c.9G>C c.(7-9)aaG>aaC p.K3N NM_014060.2 NP_054779.1 Q9ULC4 MCTS1_HUMAN malignant T cell amplified sequence 1 3 cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1) 10 TCATGTTCAAGAAGTAAGGAC 0.582000 8 24 0 0 0.006214 0 0 S100A14 57402 broad.mit.edu 37 1 153587810 153587810 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:153587810G>C ENST00000368702.1 - 4 350 c.78C>G c.(76-78)atC>atG p.I26M S100A14_ENST00000344616.2_Missense_Mutation_p.I26M|S100A14_ENST00000368701.1_Missense_Mutation_p.I26M|S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000476873.1_Missense_Mutation_p.I26M Q9HCY8 S10AE_HUMAN S100 calcium binding protein A14 26 calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm calcium ion binding|chemokine receptor binding kidney(2)|large_intestine(1)|lung(1) 4 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GAAAGTTCTTGATGAGGGTCT 0.572000 20 38 0 0 0.007413 0 0 TRIP11 9321 broad.mit.edu 37 14 92471181 92471181 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471181C>G ENST00000267622.4 - 11 3512 c.3139G>C c.(3139-3141)Gat>Cat p.D1047H NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1047 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) GACAACTGATCAATCTGTTTA 0.328000 T PDGFRB AML 9 41 0 0 0.004482 0 0 NAB2 4665 broad.mit.edu 37 12 57484986 57484986 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57484986C>A ENST00000300131.3 + 2 540 c.162C>A c.(160-162)ctC>ctA p.L54L NAB2_ENST00000554718.1_Intron|NAB2_ENST00000357680.4_Silent_p.L54L|NAB2_ENST00000342556.6_Silent_p.L54L NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 54 NCD1. cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GCGCCAACCTCCTTTCCTACT 0.632000 25 102 7.88262e-20 8.67632e-20 0.003330 1 0 FERMT3 83706 broad.mit.edu 37 11 63990903 63990903 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:63990903G>A ENST00000279227.5 + 15 2038 c.1943G>A c.(1942-1944)cGt>cAt p.R648H FERMT3_ENST00000345728.5_Missense_Mutation_p.R644H NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 648 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 GAGCGGGCCCGTGGGGAGGAG 0.612000 8 42 0 0 0.004482 0 0 TRIP11 9321 broad.mit.edu 37 14 92471643 92471643 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471643C>T ENST00000267622.4 - 11 3050 c.2677G>A c.(2677-2679)Gaa>Aaa p.E893K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 893 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) GATGCTAGTTCAGTAACACTA 0.403000 T PDGFRB AML 18 89 0 0 0.007413 0 0 NACA 4666 broad.mit.edu 37 12 57106861 57106861 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57106861C>G ENST00000454682.1 - 7 6365 c.6084G>C c.(6082-6084)gaG>gaC p.E2028D NACA_ENST00000356769.3_Missense_Mutation_p.E165D|NACA_ENST00000546392.1_Missense_Mutation_p.E165D|NACA_ENST00000550952.1_Missense_Mutation_p.E875D|NACA_ENST00000552540.1_Missense_Mutation_p.E165D|NACA_ENST00000393891.4_Missense_Mutation_p.E165D|NACA_ENST00000548563.1_Missense_Mutation_p.E86D NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 165 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CCTCTTCACTCTCCTCTTGTA 0.403000 T BCL6 NHL 7 41 0 0 0.003080 0 0 TMEM140 55281 broad.mit.edu 37 7 134849728 134849728 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:134849728G>C ENST00000275767.2 + 2 758 c.535G>C c.(535-537)Gag>Cag p.E179Q C7orf49_ENST00000459937.1_Intron NM_018295.4 NP_060765.4 Q9NV12 TM140_HUMAN transmembrane protein 140 179 integral to membrane kidney(1)|large_intestine(2)|lung(2) 5 TGAGAGGGCTGAGAGCAAGCT 0.557000 14 30 0 0 0.003163 0 0 NACC1 112939 broad.mit.edu 37 19 13247198 13247198 + Nonsense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:13247198G>T ENST00000292431.4 + 3 1225 c.1099G>T c.(1099-1101)Gag>Tag p.E367* NM_052876.3 NP_443108.1 Q96RE7 NACC1_HUMAN nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 367 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 CGACCCCTCTGAGAAGCTGGA 0.652000 14 51 4.14922e-12 4.47443e-12 0.004007 1 0 HOMER2 9455 broad.mit.edu 37 15 83518566 83518566 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:83518566C>T ENST00000304231.8 - 9 1158 c.966G>A c.(964-966)ctG>ctA p.L322L HOMER2_ENST00000426485.1_Silent_p.L267L|HOMER2_ENST00000450735.2_Silent_p.L311L|HOMER2_ENST00000399166.2_Silent_p.L256L NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 322 metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane cervix(1)|endometrium(2)|lung(6) 9 ACTCCACCTTCAGGTGGCGCT 0.547000 OREG0023389 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 55 0 0 0.004656 0 0 PI4KA 5297 broad.mit.edu 37 22 21107310 21107310 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:21107310C>T ENST00000255882.6 - 25 2954 c.2868G>A c.(2866-2868)aaG>aaA p.K956K PI4KA_ENST00000572273.1_Silent_p.K898K NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 898 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TCTCCTTGGTCTTGGCCTAGA 0.537000 29 50 0 0 0.007291 0 0 AAK1 22848 broad.mit.edu 37 2 69704114 69704114 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:69704114C>T ENST00000409085.4 - 21 3065 c.2689G>A c.(2689-2691)Gat>Aat p.D897N AAK1_ENST00000409068.1_Intron NM_014911.3 NP_055726.3 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 897 coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 AGATTACTATCTTCTGCAGCT 0.423000 3 11 0 0 0.004672 0 0 C16orf62 57020 broad.mit.edu 37 16 19659193 19659193 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:19659193C>T ENST00000438132.3 + 24 2332 c.2284C>T c.(2284-2286)Cag>Tag p.Q762* C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q673*|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q422*|C16orf62_ENST00000417362.2_Nonsense_Mutation_p.Q606*|C16orf62_ENST00000542263.1_Nonsense_Mutation_p.Q695*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q523* NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 673 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TGTTCTTGTGCAGTTGATTCA 0.328000 24 76 0 0 0.003330 0 0 PARP8 79668 broad.mit.edu 37 5 50118221 50118221 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:50118221G>A ENST00000281631.5 + 17 2005 c.1847G>A c.(1846-1848)aGa>aAa p.R616K PARP8_ENST00000503750.2_Missense_Mutation_p.R574K|PARP8_ENST00000514342.2_Missense_Mutation_p.R327K|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.R595K|PARP8_ENST00000505697.2_Missense_Mutation_p.R616K|PARP8_ENST00000514067.2_Missense_Mutation_p.R574K NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 616 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) ACTTCTATCAGAGAAATGACA 0.308000 18 96 0 0 0.007413 0 0 CACNA1G 8913 broad.mit.edu 37 17 48684289 48684289 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:48684289C>G ENST00000352832.5 + 23 4754 c.4382C>G c.(4381-4383)tCc>tGc p.S1461C CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1461C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1461C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1461C|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1484C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1461C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1484C NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1484 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GTTTTGGCCTCCAAGGATGGT 0.577000 16 41 0 0 0.004007 0 0 PLEKHG7 440107 broad.mit.edu 37 12 93163911 93163911 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:93163911G>C ENST00000344636.3 + 12 1264 c.1080G>C c.(1078-1080)aaG>aaC p.K360N NM_001004330.2 NP_001004330.1 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 7 360 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1) 17 GCTTTACCAAGAGTCAGGAAA 0.333000 14 37 0 0 0.004007 0 0 B3GALT2 8707 broad.mit.edu 37 1 193150249 193150249 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:193150249C>T ENST00000367434.4 - 2 1199 c.444G>A c.(442-444)gaG>gaA p.E148E CDC73_ENST00000367435.3_Intron NM_003783.3 NP_003774.1 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 148 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 16 AAGGACTTTTCTCTTGGCATT 0.368000 29 67 0 0 0.007291 0 0 FANCA 2175 broad.mit.edu 37 16 89858379 89858379 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:89858379G>C ENST00000389301.3 - 13 1211 c.1181C>G c.(1180-1182)tCt>tGt p.S394C FANCA_ENST00000568369.1_Missense_Mutation_p.S394C NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 394 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AACCAGGGCAGACACAAAGGA 0.552000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 15 48 0 0 0.004007 0 0 AGL 178 broad.mit.edu 37 1 100346890 100346890 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:100346890C>T ENST00000294724.4 + 16 2522 c.2044C>T c.(2044-2046)Cct>Tct p.P682S AGL_ENST00000361915.3_Missense_Mutation_p.P682S|AGL_ENST00000370161.2_Missense_Mutation_p.P666S|AGL_ENST00000361302.3_Missense_Mutation_p.P666S|AGL_ENST00000361522.4_Missense_Mutation_p.P665S|AGL_ENST00000370165.3_Missense_Mutation_p.P682S|AGL_ENST00000370163.3_Missense_Mutation_p.P682S NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 682 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TAAGTGGAATCCTGAAGCATT 0.373000 19 58 0 0 0.008871 0 0 CCNT1 904 broad.mit.edu 37 12 49088089 49088089 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:49088089G>A ENST00000261900.3 - 9 1130 c.908C>T c.(907-909)tCa>tTa p.S303L NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 303 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 GGTAGAAGTTGACATGCTCAT 0.493000 31 61 0 0 0.008361 0 0 NSUN7 79730 broad.mit.edu 37 4 40752873 40752873 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:40752873C>G ENST00000381782.2 + 2 658 c.163C>G c.(163-165)Cag>Gag p.Q55E NSUN7_ENST00000316607.5_Missense_Mutation_p.Q55E NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 CAACATTTTTCAGGGTATTCG 0.512000 40 94 0 0 0.006230 0 0 OVCH1 341350 broad.mit.edu 37 12 29649538 29649538 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:29649538G>C ENST00000318184.5 - 2 133 c.134C>G c.(133-135)tCt>tGt p.S45C NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 45 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) ACTAATTCTAGAGAAGAATCT 0.413000 40 90 0 0 0.004878 0 0 LIN54 132660 broad.mit.edu 37 4 83859644 83859644 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:83859644G>A ENST00000340417.3 - 8 1831 c.1454C>T c.(1453-1455)tCa>tTa p.S485L LIN54_ENST00000506560.1_Missense_Mutation_p.S396L|LIN54_ENST00000505397.1_Missense_Mutation_p.S485L|LIN54_ENST00000446851.2_Missense_Mutation_p.S264L|LIN54_ENST00000442461.2_Missense_Mutation_p.S264L|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.S396L|LIN54_ENST00000510557.1_Missense_Mutation_p.S264L NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 485 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) TGATACATATGAAGACTGCTG 0.353000 4 55 0 0 0.000602 0 0 NACA 4666 broad.mit.edu 37 12 57106606 57106606 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57106606C>T ENST00000454682.1 - 8 6467 c.6186G>A c.(6184-6186)ctG>ctA p.L2062L NACA_ENST00000356769.3_Silent_p.L199L|NACA_ENST00000546392.1_Silent_p.L199L|NACA_ENST00000550952.1_Silent_p.L909L|NACA_ENST00000552540.1_Silent_p.L199L|NACA_ENST00000393891.4_Silent_p.L199L|NACA_ENST00000548563.1_Silent_p.L120L NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 199 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGTTGTTCTTCAGGGCTCGGA 0.423000 T BCL6 NHL 15 84 0 0 0.004990 0 0 SLC4A9 83697 broad.mit.edu 37 5 139745591 139745591 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:139745591G>A ENST00000230993.6 + 13 1990 c.1955G>A c.(1954-1956)cGc>cAc p.R652H SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R614H|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R628H|SLC4A9_ENST00000507527.1_Missense_Mutation_p.R652H NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 652 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGACCAGCCGCTTCTTCCCC 0.493000 73 198 0 0 0.003610 0 0 MBD3 53615 broad.mit.edu 37 19 1585105 1585105 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:1585105C>T ENST00000590550.2 - 1 424 c.51G>A c.(49-51)aaG>aaA p.K17K MBD3_ENST00000434436.3_Silent_p.K73K|MBD3_ENST00000156825.1_Silent_p.K73K|MBD3_ENST00000592012.1_Silent_p.K41K|MBD3_ENST00000585967.1_5'UTR O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 73 MBD. transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) TCTTGTTCATCTTGCTCATCA 0.647000 6 25 0 0 0.001984 0 0 ZNRF3 84133 broad.mit.edu 37 22 29445929 29445929 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:29445929G>A ENST00000544604.2 + 8 1935 c.1760G>A c.(1759-1761)cGc>cAc p.R587H ZNRF3_ENST00000402174.1_Missense_Mutation_p.R487H|ZNRF3_ENST00000406323.3_Missense_Mutation_p.R487H|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R487H NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 587 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 TCCACCTTCCGCAGCTCCCTC 0.667000 32 109 0 0 0.012213 0 0 AFM 173 broad.mit.edu 37 4 74361120 74361120 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:74361120G>A ENST00000226355.3 + 9 1255 c.1162G>A c.(1162-1164)Gaa>Aaa p.E388K NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 388 Albumin 2. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTGCAACACAGAAAACCCTCC 0.363000 15 44 0 0 0.003163 0 0 METTL6 131965 broad.mit.edu 37 3 15467880 15467880 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:15467880G>C ENST00000443029.1 - 2 379 c.139C>G c.(139-141)Ctt>Gtt p.L47V METTL6_ENST00000450816.2_Missense_Mutation_p.L47V|METTL6_ENST00000383790.3_Missense_Mutation_p.L47V|METTL6_ENST00000383789.5_Missense_Mutation_p.L47V Q8TCB7 METL6_HUMAN methyltransferase like 6 47 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1) 15 TTGTAAAAAAGATCCCAATTT 0.373000 14 43 0 0 0.001855 0 0 MALAT1 378938 broad.mit.edu 37 11 65272755 65272755 + RNA SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65272755G>T ENST00000534336.1 + 0 7523 NR_002819.2 CTAAGGTCAAGAGAAGTGTCA 0.483000 9 32 1.12685e-05 1.17239e-05 0.004482 1 0 GAPVD1 26130 broad.mit.edu 37 9 128086134 128086134 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:128086134C>T ENST00000470056.1 + 9 1950 c.1790C>T c.(1789-1791)tCa>tTa p.S597L GAPVD1_ENST00000495955.1_Missense_Mutation_p.S597L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.S597L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.S576L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.S597L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.S597L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.S597L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.S576L Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 597 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GAGTCTGTGTCAGAACTTGGA 0.428000 11 53 0 0 0.010729 0 0 ENAM 10117 broad.mit.edu 37 4 71508617 71508617 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:71508617G>A ENST00000396073.3 + 9 1755 c.1474G>A c.(1474-1476)Gaa>Aaa p.E492K ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 492 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) TGATCAACATGAAAACTCCTA 0.378000 7 30 0 0 0.004482 0 0 POM121L12 285877 broad.mit.edu 37 7 53103789 53103789 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:53103789C>T ENST00000408890.4 + 1 441 c.425C>T c.(424-426)gCg>gTg p.A142V NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 142 p.A142V(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 ATCGGGATCGCGCCCCCTGAG 0.721000 13 30 0 0 0.002450 0 0 CYP11B1 1584 broad.mit.edu 37 8 143961152 143961152 + Silent SNP C C G rs147788769 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:143961152C>G ENST00000292427.4 - 1 110 c.78G>C c.(76-78)acG>acC p.T26T CYP11B1_ENST00000517471.1_Silent_p.T26T|CYP11B1_ENST00000377675.3_Silent_p.T26T NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 26 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GGGCGGCTCTCGTGCCCAGTG 0.652000 Familial Hyperaldosteronism type I 20 77 0 0 0.008871 0 0 CAD 790 broad.mit.edu 37 2 27463930 27463930 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:27463930G>A ENST00000264705.4 + 37 5805 c.5643G>A c.(5641-5643)ctG>ctA p.L1881L CAD_ENST00000403525.1_Silent_p.L1818L NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1881 Linker. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CTGCAGAGCTGATGGGAACCC 0.622000 43 101 0 0 0.010771 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427616 197427616 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:197427616C>G ENST00000273582.5 - 7 1494 c.949G>C c.(949-951)Gag>Cag p.E317Q KIAA0226_ENST00000389665.5_Missense_Mutation_p.E377Q|KIAA0226_ENST00000296343.5_Missense_Mutation_p.E377Q|KIAA0226_ENST00000449205.1_Missense_Mutation_p.E377Q NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 377 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) AGCTGGCTCTCCCCACCTCCT 0.577000 35 76 0 0 0.002836 0 0 ETS2 2114 broad.mit.edu 37 21 40191453 40191453 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:40191453G>A ENST00000360214.3 + 9 1298 c.838G>A c.(838-840)Gag>Aag p.E280K ETS2_ENST00000360938.3_Missense_Mutation_p.E280K NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 280 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) CGACTCCCCTGAGAACGGTGC 0.557000 46 34 0 0 0.003610 0 0 C1RL 51279 broad.mit.edu 37 12 7260991 7260991 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:7260991C>T ENST00000266542.4 - 2 248 c.156G>A c.(154-156)ctG>ctA p.L52L C1RL-AS1_ENST00000541775.1_RNA|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_Silent_p.L52L|C1RL_ENST00000545337.1_Silent_p.L52L|C1RL-AS1_ENST00000435921.2_RNA NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 52 CUB. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CGGGGGATGTCAGCTGCTGGG 0.632000 18 55 0 0 0.010504 0 0 AP2M1 1173 broad.mit.edu 37 3 183900581 183900581 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:183900581C>T ENST00000382456.3 + 10 1406 c.1092C>T c.(1090-1092)atC>atT p.I364I AP2M1_ENST00000439647.1_Silent_p.I364I|AP2M1_ENST00000411763.2_Silent_p.I391I|AP2M1_ENST00000292807.5_Silent_p.I366I|AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron NM_001025205.1 NP_001020376.1 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 366 MHD. axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 18 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AATCGCAGATCAGCGCAGAGA 0.552000 17 93 0 0 0.004990 0 0 SYT14 255928 broad.mit.edu 37 1 210334211 210334211 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:210334211G>A ENST00000537238.1 + 9 1769 c.1378G>A c.(1378-1380)Gat>Aat p.D460N SYT14_ENST00000472886.1_Missense_Mutation_p.D498N|SYT14_ENST00000367015.1_Missense_Mutation_p.D460N|SYT14_ENST00000534859.1_Missense_Mutation_p.D524N|SYT14_ENST00000422431.1_Missense_Mutation_p.D562N|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.D517N|SYT14_ENST00000399639.2_3'UTR NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 498 C2 2. integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) TCAGCTTTCTGATGTGACACT 0.418000 18 76 0 0 0.006122 0 0 MTG2 26164 broad.mit.edu 37 20 60775858 60775858 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:60775858G>C ENST00000370823.3 + 7 964 c.946G>C c.(946-948)Gag>Cag p.E316Q MTG2_ENST00000436421.2_Missense_Mutation_p.E158Q|MTG2_ENST00000536470.1_Missense_Mutation_p.E88Q NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 TTCTCAGCCTGAGCCGTGGAC 0.547000 63 215 0 0 0.003610 0 0 GSTA3 2940 broad.mit.edu 37 6 52767169 52767169 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:52767169C>T ENST00000211122.3 - 4 312 c.247G>A c.(247-249)Ggg>Agg p.G83R GSTA3_ENST00000370968.1_Missense_Mutation_p.G33R NM_000847.4 NP_000838.3 Q16772 GSTA3_HUMAN glutathione S-transferase alpha 3 83 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2) 10 Lung NSC(77;0.0912) Glutathione(DB00143) ATGTCTTTCCCGTAGAGGTTG 0.448000 50 147 0 0 0.003610 0 0 C17orf62 79415 broad.mit.edu 37 17 80405459 80405459 + Missense_Mutation SNP C C T rs142773924 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:80405459C>T ENST00000437807.2 - 4 441 c.124G>A c.(124-126)Gga>Aga p.G42R C17orf62_ENST00000578919.1_Missense_Mutation_p.G42R|C17orf62_ENST00000583617.1_Missense_Mutation_p.G42R|C17orf62_ENST00000306645.5_Missense_Mutation_p.G42R|C17orf62_ENST00000434650.2_Intron|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000577732.1_Missense_Mutation_p.G42R|C17orf62_ENST00000578913.1_Missense_Mutation_p.G42R|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000577436.1_Intron|C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000585064.1_Missense_Mutation_p.G42R|C17orf62_ENST00000585080.1_Missense_Mutation_p.G42R NM_001193653.1|NM_001193657.1 NP_001180582.1|NP_001180586.1 Q9BQA9 CQ062_HUMAN chromosome 17 open reading frame 62 42 integral to membrane protein binding breast(2)|large_intestine(2)|skin(2)|urinary_tract(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GCTTTACCTCCGCTGTAGTAG 0.542000 4 14 0 0 0.000602 0 0 GTF2E1 2960 broad.mit.edu 37 3 120499990 120499990 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:120499990G>C ENST00000283875.5 + 5 1086 c.993G>C c.(991-993)aaG>aaC p.K331N NM_005513.2 NP_005504.2 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, alpha 56kDa 331 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) ACGAGAAAAAGACTTCCTCTG 0.547000 9 63 0 0 0.004482 0 0 RCOR1 23186 broad.mit.edu 37 14 103174893 103174893 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:103174893G>A ENST00000262241.6 + 6 978 c.752G>A c.(751-753)cGg>cAg p.R251Q RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 248 Interaction with HDAC1. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 CGCCATGCCCGGAAACAAAAA 0.463000 4 144 0 0 0.000602 0 0 BCAN 63827 broad.mit.edu 37 1 156621404 156621404 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:156621404C>T ENST00000329117.4 + 7 1556 c.1220C>T c.(1219-1221)tCc>tTc p.S407F BCAN_ENST00000361588.5_Missense_Mutation_p.S407F|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 407 Glu-rich. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCATCTACTCCATCCCCATC 0.572000 9 90 0 0 0.008291 0 0 C15orf57 90416 broad.mit.edu 37 15 40849428 40849428 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:40849428C>G ENST00000358005.3 - 3 661 c.388G>C c.(388-390)Gat>Cat p.D130H C15orf57_ENST00000558750.1_Missense_Mutation_p.D139H|C15orf57_ENST00000558113.1_Missense_Mutation_p.D130H|RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000561011.1_Missense_Mutation_p.D130H|C15orf57_ENST00000560305.1_Missense_Mutation_p.D130H|C15orf57_ENST00000559911.1_Missense_Mutation_p.D130H|C15orf57_ENST00000558871.1_Missense_Mutation_p.D130H|C15orf57_ENST00000416810.2_Missense_Mutation_p.D130H NM_001080791.1|NM_052849.2 NP_001074260.1|NP_443081.1 Q9BV29 CO057_HUMAN chromosome 15 open reading frame 57 130 endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 9 TCATCAGAATCAAGTCCATCC 0.438000 12 26 0 0 0.002450 0 0 ARID2 196528 broad.mit.edu 37 12 46231439 46231439 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:46231439G>A ENST00000334344.6 + 10 1451 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.E278K|ARID2_ENST00000444670.1_Missense_Mutation_p.E56K NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 427 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CATGCTCACGGAAATGGGAGA 0.378000 """N, S, F""" hepatocellular carcinoma 18 39 0 0 0.006122 0 0 MIR518F 574472 broad.mit.edu 37 19 54203354 54203354 + RNA SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:54203354G>C ENST00000384973.1 + 0 86 NR_030194.1 TACTCTTTGAGAAAAGCAACG 0.378000 13 59 0 0 0.001368 0 0 CDH10 1008 broad.mit.edu 37 5 24511615 24511615 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:24511615G>C ENST00000264463.4 - 6 1330 c.823C>G c.(823-825)Cat>Gat p.H275D NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 275 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H275Y(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ACTCGAAGATGAATAGTGTCT 0.418000 HNSCC(23;0.051) 7 28 0 0 0.001984 0 0 MYH7B 57644 broad.mit.edu 37 20 33567491 33567491 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:33567491C>T ENST00000262873.7 + 5 444 c.352C>T c.(352-354)Cag>Tag p.Q118* NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 76 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) AGCCGAGCTGCAGCCCATGAA 0.647000 25 87 0 0 0.006320 0 0 NRAP 4892 broad.mit.edu 37 10 115368262 115368262 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr10:115368262G>A ENST00000369358.4 - 32 3881 c.3637C>T c.(3637-3639)Cgg>Tgg p.R1213W NRAP_ENST00000369360.3_Missense_Mutation_p.R1178W|NRAP_ENST00000360478.3_Missense_Mutation_p.R1170W|NRAP_ENST00000359988.3_Missense_Mutation_p.R1205W Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1205 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GGATGCTGCCGATATTTACTC 0.438000 60 116 0 0 0.003610 0 0 STAB2 55576 broad.mit.edu 37 12 104129353 104129353 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:104129353G>A ENST00000388887.2 + 52 5749 c.5545G>A c.(5545-5547)Gac>Aac p.D1849N NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1849 FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGCTGGCAGGGACATCGTGAG 0.507000 3 10 0 0 0.004672 0 0 TP53INP1 94241 broad.mit.edu 37 8 95942725 95942725 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:95942725C>T ENST00000342697.4 - 4 1112 c.705G>A c.(703-705)ccG>ccA p.P235P TP53INP1_ENST00000378776.4_Silent_p.P180P|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_3'UTR NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 235 apoptosis PML body kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) TGTACTGACGCGGGCAGGGCT 0.438000 53 115 0 0 0.003610 0 0 EPPK1 83481 broad.mit.edu 37 8 144943311 144943311 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:144943311C>T ENST00000525985.1 - 2 4182 c.4111G>A c.(4111-4113)Ggg>Agg p.G1371R P58107 EPIPL_HUMAN epiplakin 1 1371 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGGTGCACCCCGTGGACAGGG 0.637000 8 31 0 0 0.003080 0 0 PLCH2 9651 broad.mit.edu 37 1 2428128 2428128 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:2428128G>A ENST00000449969.1 + 14 1998 c.1837G>A c.(1837-1839)Gac>Aac p.D613N PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.D640N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D640N|PLCH2_ENST00000378488.3_Missense_Mutation_p.D640N|PLCH2_ENST00000288766.5_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 640 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GGCCACCCACGACATAGAGAT 0.682000 4 14 0 0 0.000602 0 0 SLC25A18 83733 broad.mit.edu 37 22 18072904 18072904 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:18072904G>A ENST00000327451.5 + 11 1388 c.850G>A c.(850-852)Gct>Act p.A284T SLC25A18_ENST00000399813.1_Missense_Mutation_p.A284T NM_031481.1 NP_113669.1 Q9H1K4 GHC2_HUMAN solute carrier family 25 (glutamate carrier), member 18 284 integral to membrane|mitochondrial inner membrane binding|symporter activity breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 18 Lung(27;0.124) L-Glutamic Acid(DB00142) CATGAAAGGCGCTGGCTGCCG 0.527000 19 81 0 0 0.006122 0 0 HEXA 3073 broad.mit.edu 37 15 72643480 72643480 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:72643480C>A ENST00000268097.5 - 6 1169 c.666G>T c.(664-666)atG>atT p.M222I HEXA_ENST00000457859.2_Missense_Mutation_p.M30I|HEXA_ENST00000566304.1_Missense_Mutation_p.M233I|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.M222I|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.M49I NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 222 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 ATACCTTTCTCATGAGCTCTG 0.468000 10 38 7.03913e-09 7.48963e-09 0.001368 1 0 ARHGEF40 55701 broad.mit.edu 37 14 21556189 21556189 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:21556189C>A ENST00000298694.4 + 22 4577 c.4450C>A c.(4450-4452)Caa>Aaa p.Q1484K ARHGEF40_ENST00000298693.3_Missense_Mutation_p.Q1436K Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 1484 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CCCCAGCCTGCAACCCCCCCA 0.577000 19 79 1.45105e-14 1.57329e-14 0.006122 1 0 TBC1D20 128637 broad.mit.edu 37 20 428599 428599 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:428599C>A ENST00000354200.4 - 2 337 c.190G>T c.(190-192)Gag>Tag p.E64* NM_144628.2 NP_653229.1 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 64 Rab-GAP TBC. interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(17;0.228)|Breast(17;0.231) CGTCTGATCTCATCAGTCAGG 0.532000 13 47 6.31663e-08 6.67638e-08 0.003163 1 0 PLEC 5339 broad.mit.edu 37 8 144998102 144998102 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:144998102C>G ENST00000322810.4 - 31 6575 c.6406G>C c.(6406-6408)Gag>Cag p.E2136Q PLEC_ENST00000527096.1_Missense_Mutation_p.E2022Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1999Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2003Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E1967Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2026Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1999Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1985Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1977Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2136 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGTGCGGCCTCCTCCTCGGCC 0.746000 3 21 0 0 0.004672 0 0 ZBTB24 9841 broad.mit.edu 37 6 109788881 109788881 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:109788881G>A ENST00000230122.3 - 6 1512 c.1345C>T c.(1345-1347)Ctt>Ttt p.L449F NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) TGGGTCTGAAGAGAACTCTTT 0.373000 4 23 0 0 0.001168 0 0 SDC4 6385 broad.mit.edu 37 20 43964468 43964468 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:43964468G>A ENST00000372733.3 - 2 192 c.153C>T c.(151-153)ccC>ccT p.P51P SDC4_ENST00000537976.1_Intron NM_002999.3 NP_002990.2 P31431 SDC4_HUMAN syndecan 4 51 extracellular region|integral to plasma membrane cytoskeletal protein binding|thrombospondin receptor activity p.P51P(1) SDC4/ROS1(7) NS(1)|breast(1)|endometrium(1)|large_intestine(2) 5 Myeloproliferative disorder(115;0.0122) ATTCCTGCCCGGGCCCCACTA 0.582000 T ROS1 NSCLC 31 47 0 0 0.012213 0 0 TTN 7273 broad.mit.edu 37 2 179398942 179398942 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:179398942C>T ENST00000589042.1 - 358 102624 c.102400G>A c.(102400-102402)Gaa>Aaa p.E34134K TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32493K|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25069K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25261K|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25194K|TTN_ENST00000342992.6_Missense_Mutation_p.E31566K|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32493 Ig-like 151.|Ser-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) GGGCCAATTTCAATGGATGCC 0.443000 30 86 0 0 0.008361 0 0 NACA 4666 broad.mit.edu 37 12 57106659 57106659 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57106659C>G ENST00000454682.1 - 8 6414 c.6133G>C c.(6133-6135)Gaa>Caa p.E2045Q NACA_ENST00000356769.3_Missense_Mutation_p.E182Q|NACA_ENST00000546392.1_Missense_Mutation_p.E182Q|NACA_ENST00000550952.1_Missense_Mutation_p.E892Q|NACA_ENST00000552540.1_Missense_Mutation_p.E182Q|NACA_ENST00000393891.4_Missense_Mutation_p.E182Q|NACA_ENST00000548563.1_Missense_Mutation_p.E103Q NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 182 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 ATGACCAATTCAATGTCCTTA 0.403000 T BCL6 NHL 10 91 0 0 0.010729 0 0 RALGDS 5900 broad.mit.edu 37 9 135982483 135982483 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:135982483C>T ENST00000393160.3 - 7 1590 c.1237G>A c.(1237-1239)Gag>Aag p.E413K RALGDS_ENST00000372047.3_Missense_Mutation_p.E456K|RALGDS_ENST00000372062.3_Missense_Mutation_p.E439K|RALGDS_ENST00000542690.1_Missense_Mutation_p.E539K|RALGDS_ENST00000372050.3_Missense_Mutation_p.E468K|RALGDS_ENST00000393157.3_Missense_Mutation_p.E467K|RALGDS_ENST00000469972.1_5'UTR NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 468 Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CTGGCCACCTCGATCCAGTGC 0.622000 T CIITA """PMBL, Hodgkin Lymphona, """ 12 57 0 0 0.010729 0 0 MYRF 745 broad.mit.edu 37 11 61548770 61548770 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:61548770C>T ENST00000278836.5 + 21 2829 c.2733C>T c.(2731-2733)agC>agT p.S911S MYRF_ENST00000265460.5_Silent_p.S876S|MYRF_ENST00000389602.4_Silent_p.S302S|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor atgttctcagcccaagtccca 0.607000 18 47 0 0 0.004990 0 0 MALAT1 378938 broad.mit.edu 37 11 65272832 65272832 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65272832G>A ENST00000534336.1 + 0 7600 NR_002819.2 TGAAGCATCCGAAGGAATGCT 0.423000 5 30 0 0 0.000602 0 0 ZNF474 133923 broad.mit.edu 37 5 121488078 121488078 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:121488078G>C ENST00000296600.4 + 2 776 c.393G>C c.(391-393)ttG>ttC p.L131F ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA NM_207317.1 NP_997200.1 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 131 intracellular zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) CCAAGCATTTGAGGAGGCCAG 0.517000 31 78 0 0 0.009535 0 0 CLASP1 23332 broad.mit.edu 37 2 122165228 122165228 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:122165228C>T ENST00000263710.4 - 25 2877 c.2488G>A c.(2488-2490)Gat>Aat p.D830N CLASP1_ENST00000545861.1_Missense_Mutation_p.D577N|CLASP1_ENST00000541859.1_Missense_Mutation_p.D563N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D802N|CLASP1_ENST00000397587.3_Missense_Mutation_p.D810N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D808N|CLASP1_ENST00000455322.2_Missense_Mutation_p.D802N NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 830 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) CTTGAGGCATCACTGTTGGCA 0.502000 38 115 0 0 0.004289 0 0 YTHDC2 64848 broad.mit.edu 37 5 112871369 112871369 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:112871369G>A ENST00000161863.4 + 7 1189 c.976G>A c.(976-978)Gat>Aat p.D326N YTHDC2_ENST00000515883.1_Missense_Mutation_p.D326N NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 326 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TCGATTTAGTGATTTTTTACT 0.303000 13 48 0 0 0.002450 0 0 RUSC1 23623 broad.mit.edu 37 1 155295461 155295461 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:155295461C>T ENST00000368352.5 + 6 1963 c.1812C>T c.(1810-1812)ctC>ctT p.L604L RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Silent_p.L604L|RUSC1_ENST00000292254.4_Silent_p.L135L|RUSC1_ENST00000368349.4_Silent_p.L135L|RUSC1_ENST00000368347.4_Silent_p.L194L NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 604 RUN. cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) TGGGCCTCCTCAAGTGAGTTG 0.612000 9 15 0 0 0.004482 0 0 CPD 1362 broad.mit.edu 37 17 28789469 28789469 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:28789469C>G ENST00000225719.4 + 20 3974 c.3898C>G c.(3898-3900)Ctt>Gtt p.L1300V CPD_ENST00000543464.2_Missense_Mutation_p.L1053V NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 1300 proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 GCCAAGGGAGCTTGTGGTAAC 0.373000 20 49 0 0 0.010504 0 0 CNR1 1268 broad.mit.edu 37 6 88854153 88854153 + Missense_Mutation SNP C C A rs140051374 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:88854153C>A ENST00000537554.1 - 2 4403 c.841G>T c.(841-843)Ggg>Tgg p.G281W CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.G281W|CNR1_ENST00000549716.1_Missense_Mutation_p.G220W|CNR1_ENST00000369501.2_Missense_Mutation_p.G281W|CNR1_ENST00000468898.1_Missense_Mutation_p.G248W|CNR1_ENST00000369499.2_Missense_Mutation_p.G281W|CNR1_ENST00000549890.1_Missense_Mutation_p.G281W|CNR1_ENST00000535130.1_Missense_Mutation_p.G281W NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 281 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CTGGTGACCCCGATCCAGAAC 0.532000 4 74 0.00909568 0.00929367 0.009096 1 0 ARAP1 116985 broad.mit.edu 37 11 72409008 72409008 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:72409008G>A ENST00000359373.5 - 19 3536 c.2685C>T c.(2683-2685)ttC>ttT p.F895F ARAP1_ENST00000334211.8_Silent_p.F650F|ARAP1_ENST00000393609.3_Silent_p.F895F|ARAP1_ENST00000455638.2_Silent_p.F895F|ARAP1_ENST00000429686.1_Silent_p.F589F|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Silent_p.F655F|ARAP1_ENST00000426523.1_Silent_p.F650F Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 895 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 GCCCCTCCGGGAAGACAGCAC 0.657000 3 21 0 0 0.000602 0 0 STARD13 90627 broad.mit.edu 37 13 33703293 33703293 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:33703293G>T ENST00000336934.5 - 5 1637 c.1521C>A c.(1519-1521)gtC>gtA p.V507V STARD13_ENST00000399365.3_Silent_p.V389V|STARD13_ENST00000255486.4_Silent_p.V499V NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 507 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GTTCAGGCAAGACATCTTTGG 0.448000 23 90 6.21321e-17 6.82e-17 0.002780 1 0 DNAH11 8701 broad.mit.edu 37 7 21621571 21621571 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:21621571G>C ENST00000328843.6 + 9 1673 c.1642G>C c.(1642-1644)Gac>Cac p.D548H DNAH11_ENST00000409508.3_Missense_Mutation_p.D548H Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 548 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TCTGGAATTTGACAGAAGGCT 0.333000 Kartagener syndrome 3 92 0 0 0.004672 0 0 NOTUM 147111 broad.mit.edu 37 17 79916266 79916266 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:79916266G>A ENST00000409678.3 - 5 920 c.537C>T c.(535-537)ttC>ttT p.F179F NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 179 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) AGTAGGGGATGAAGCTGCAAC 0.612000 11 44 0 0 0.001368 0 0 BSN 8927 broad.mit.edu 37 3 49702266 49702266 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:49702266C>T ENST00000296452.4 + 10 11889 c.11775C>T c.(11773-11775)ttC>ttT p.F3925F NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3925 F -> L (in Ref. 1; AAC83555). synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TTTCCTCATTCTGGTGACCAT 0.557000 30 69 0 0 0.009535 0 0 PLEC 5339 broad.mit.edu 37 8 145007122 145007122 + Nonsense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:145007122G>A ENST00000322810.4 - 14 2156 c.1987C>T c.(1987-1989)Cag>Tag p.Q663* PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q549*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q526*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q530*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q494*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q553*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q526*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q512*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q504* NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 663 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGCAGGTCCTGCAGGTAGCGC 0.697000 6 29 0 0 0.003080 0 0 FXR1 8087 broad.mit.edu 37 3 180685868 180685868 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:180685868G>A ENST00000357559.4 + 14 1612 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K FXR1_ENST00000468861.1_Missense_Mutation_p.E325K|FXR1_ENST00000305586.7_Missense_Mutation_p.E325K|FXR1_ENST00000445140.2_Missense_Mutation_p.E410K|FXR1_ENST00000480918.1_Missense_Mutation_p.E397K|FXR1_ENST00000491062.1_Missense_Mutation_p.E361K NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 410 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TAACCCCTCTGAAACGGAATC 0.428000 24 161 0 0 0.003330 0 0 UPB1 51733 broad.mit.edu 37 22 24911253 24911253 + Missense_Mutation SNP C C T rs144135211 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:24911253C>T ENST00000413389.2 + 6 2095 c.502C>T c.(502-504)Cgg>Tgg p.R168W UPB1_ENST00000326010.5_Missense_Mutation_p.R236W Q9UBR1 BUP1_HUMAN ureidopropionase, beta 236 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) TTGCTACGGGCGGCACCACCC 0.562000 26 64 0 0 0.004656 0 0 ZNF70 7621 broad.mit.edu 37 22 24086776 24086776 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:24086776G>C ENST00000341976.3 - 2 1012 c.552C>G c.(550-552)ctC>ctG p.L184L NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 184 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 TCTGGTGCCTGAGCAGGTGGG 0.622000 13 48 0 0 0.001368 0 0 DLGAP4 22839 broad.mit.edu 37 20 35155390 35155390 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:35155390G>C ENST00000373913.3 + 13 3406 c.2926G>C c.(2926-2928)Gac>Cac p.D976H RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_Missense_Mutation_p.D976H|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000339266.5_Missense_Mutation_p.D979H|DLGAP4_ENST00000373907.2_Missense_Mutation_p.D979H|DLGAP4_ENST00000340491.4_Missense_Mutation_p.D440H Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 979 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CGAGAGCGCAGACAGCATCGA 0.557000 10 50 0 0 0.008291 0 0 UPRT 139596 broad.mit.edu 37 X 74519710 74519710 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:74519710C>A ENST00000373379.1 + 5 868 c.703C>A c.(703-705)Ctt>Att p.L235I UPRT_ENST00000373383.4_Missense_Mutation_p.L235I|UPRT_ENST00000530743.1_Missense_Mutation_p.L99I Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 235 nucleoside metabolic process cytoplasm|nucleus breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4) 18 GAGAAAAGTCCTTCTGATGTA 0.413000 37 23 5.04308e-16 5.51285e-16 0.006230 1 0 STAMBP 10617 broad.mit.edu 37 2 74074516 74074516 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:74074516G>C ENST00000394070.2 + 5 881 c.378G>C c.(376-378)aaG>aaC p.K126N STAMBP_ENST00000409707.1_Missense_Mutation_p.K126N|STAMBP_ENST00000339566.3_Missense_Mutation_p.K126N|STAMBP_ENST00000394073.1_Missense_Mutation_p.K126N|STAMBP_ENST00000536064.1_Missense_Mutation_p.K126N NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein 126 Glu-rich.|Interaction with CHMP3. JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 CTTTGTAGAAGAAGGAAGCAG 0.448000 8 29 0 0 0.004482 0 0 OR4D9 390199 broad.mit.edu 37 11 59283051 59283051 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:59283051G>C ENST00000329328.3 + 1 666 c.666G>C c.(664-666)ttG>ttC p.L222F NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 CGGTCATCTTGATGATGCTGA 0.498000 27 156 0 0 0.006320 0 0 TWIST1 7291 broad.mit.edu 37 7 19156446 19156446 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:19156446C>A ENST00000242261.5 - 1 849 c.499G>T c.(499-501)Gag>Tag p.E167* NM_000474.3 NP_000465.1 Q15672 TWST1_HUMAN twist family bHLH transcription factor 1 167 Sufficient for transactivation activity (By similarity). aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 GAGTCCAGCTCGTCGCTCTGG 0.617000 9 18 1.58986e-06 1.66498e-06 0.008291 1 0 FBXL13 222235 broad.mit.edu 37 7 102553560 102553560 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:102553560G>C ENST00000393772.2 - 11 1407 c.981C>G c.(979-981)atC>atG p.I327M FBXL13_ENST00000379305.3_Missense_Mutation_p.I327M|LRRC17_ENST00000249377.4_5'UTR|FBXL13_ENST00000379306.3_Missense_Mutation_p.I327M|FBXL13_ENST00000313221.4_Missense_Mutation_p.I327M|LRRC17_ENST00000339431.4_5'UTR|FBXL13_ENST00000436908.1_Missense_Mutation_p.I327M|FBXL13_ENST00000379308.3_Missense_Mutation_p.I327M|FBXL13_ENST00000456695.1_Missense_Mutation_p.I327M|FBXL13_ENST00000455112.2_Missense_Mutation_p.I327M Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 327 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GGTCCAGATAGATGAGCTTGT 0.488000 5 22 0 0 0.000602 0 0 TRIP11 9321 broad.mit.edu 37 14 92471470 92471470 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471470C>T ENST00000267622.4 - 11 3223 c.2850G>A c.(2848-2850)atG>atA p.M950I NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 950 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) GTGTGGCGTTCATTTGCTCAT 0.368000 T PDGFRB AML 15 113 0 0 0.007413 0 0 BACH2 60468 broad.mit.edu 37 6 90648025 90648025 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:90648025C>A ENST00000257749.4 - 8 2588 c.1881G>T c.(1879-1881)agG>agT p.R627S BACH2_ENST00000537989.1_Missense_Mutation_p.R627S|BACH2_ENST00000343122.3_Missense_Mutation_p.R627S NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 627 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GGAAATCGTTCCTTGGAAGAT 0.423000 18 43 3.51602e-12 3.80187e-12 0.008871 1 0 LIFR 3977 broad.mit.edu 37 5 38481936 38481936 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:38481936C>G ENST00000263409.4 - 20 3217 c.3055G>C c.(3055-3057)Gaa>Caa p.E1019Q LIFR_ENST00000453190.2_Missense_Mutation_p.E1019Q NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 1019 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) AAGTCCTCTTCTGCAGCTATA 0.443000 T PLAG1 salivary adenoma 20 99 0 0 0.008871 0 0 C19orf57 79173 broad.mit.edu 37 19 14000824 14000824 + Nonsense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:14000824G>C ENST00000454313.1 - 6 903 c.845C>G c.(844-846)tCa>tGa p.S282* C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Nonsense_Mutation_p.S282*|C19orf57_ENST00000346736.2_Nonsense_Mutation_p.S282* Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 282 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GGTAGGAGCTGATGCTGGGGT 0.711000 6 42 0 0 0.001168 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145771162 145771162 + Missense_Mutation SNP C C G rs149131924 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:145771162C>G ENST00000276826.5 - 5 2193 c.1992G>C c.(1990-1992)gaG>gaC p.E664D ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E664D|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E664D Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 664 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GCCGGCTGCTCTCGAACTGGG 0.677000 6 20 0 0 0.001168 0 0 FILIP1L 11259 broad.mit.edu 37 3 99649833 99649833 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:99649833G>A ENST00000331335.5 - 2 502 c.32C>T c.(31-33)tCa>tTa p.S11L CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.S11L|FILIP1L_ENST00000398326.2_Missense_Mutation_p.S11L NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 11 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 CTTTTGGGCTGAGCCCTCGGT 0.433000 9 44 0 0 0.010729 0 0 PRPF40B 25766 broad.mit.edu 37 12 50035744 50035744 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:50035744C>T ENST00000261897.1 + 18 2267 c.1716C>T c.(1714-1716)gtC>gtT p.V572V PRPF40B_ENST00000380281.1_Silent_p.V585V|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Silent_p.V607V Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 585 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 TCGCCCACGTCATAAGCTTTG 0.597000 31 78 0 0 0.009535 0 0 WDHD1 11169 broad.mit.edu 37 14 55474026 55474026 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:55474026C>T ENST00000360586.3 - 7 637 c.572G>A c.(571-573)aGa>aAa p.R191K WDHD1_ENST00000420358.2_Missense_Mutation_p.R68K|WDHD1_ENST00000421192.1_Missense_Mutation_p.R68K NM_007086.3 NP_009017.1 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 191 cytoplasm|nucleoplasm DNA binding breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 CCAAGCAAGTCTGCAGATTGA 0.318000 6 26 0 0 0.003080 0 0 DCHS2 54798 broad.mit.edu 37 4 155278412 155278412 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:155278412C>G ENST00000357232.3 - 6 758 c.759G>C c.(757-759)atG>atC p.M253I DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 253 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ctaaactgttcattacttcct 0.443000 30 102 0 0 0.007291 0 0 TAF6 6878 broad.mit.edu 37 7 99710524 99710524 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:99710524C>T ENST00000344095.4 - 6 996 c.471G>A c.(469-471)caG>caA p.Q157Q TAF6_ENST00000472509.1_Silent_p.Q214Q|TAF6_ENST00000418432.2_Silent_p.Q81Q|TAF6_ENST00000453269.2_Silent_p.Q157Q|TAF6_ENST00000452041.1_Silent_p.Q157Q|TAF6_ENST00000437822.2_Silent_p.Q194Q NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 157 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q157Q(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTTCAGCCTTCTGTTGCTCTT 0.602000 77 187 0 0 0.003610 0 0 PLG 5340 broad.mit.edu 37 6 161134112 161134112 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:161134112G>C ENST00000308192.9 + 5 565 c.502G>C c.(502-504)Gat>Cat p.D168H PLG_ENST00000462918.1_3'UTR NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 168 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CTATACTACTGATCCAGAAAA 0.478000 24 143 0 0 0.005443 0 0 MCF2L2 23101 broad.mit.edu 37 3 182897459 182897459 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:182897459C>G ENST00000328913.3 - 29 3424 c.3127G>C c.(3127-3129)Gac>Cac p.D1043H MCF2L2_ENST00000473233.1_Missense_Mutation_p.D1043H NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 1043 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGACTGTCGTCCGACTGGAAA 0.587000 22 225 0 0 0.002780 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39716595 39716595 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:39716595C>T ENST00000553728.1 + 4 1030 c.817C>T c.(817-819)Caa>Taa p.Q273* MIA2_ENST00000280082.3_Nonsense_Mutation_p.Q273*|MIA2_ENST00000556784.1_Nonsense_Mutation_p.Q272* TGGTGAGCCTCAAACAGAACA 0.393000 9 36 0 0 0.004482 0 0 GTSE1 51512 broad.mit.edu 37 22 46704811 46704811 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:46704811G>A ENST00000454366.1 + 4 945 c.733G>A c.(733-735)Gga>Aga p.G245R NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 226 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CTCTGTTAGAGGAAGAAGCAT 0.612000 20 71 0 0 0.010504 0 0 XIRP1 165904 broad.mit.edu 37 3 39228635 39228635 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:39228635C>T ENST00000340369.3 - 2 2530 c.2302G>A c.(2302-2304)Gag>Aag p.E768K XIRP1_ENST00000396251.1_Missense_Mutation_p.E768K|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 768 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GCTGCAGTCTCCTGGCTCTCT 0.642000 11 28 0 0 0.010729 0 0 LGALS12 85329 broad.mit.edu 37 11 63283183 63283183 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:63283183G>A ENST00000415491.2 + 7 1293 c.679G>A c.(679-681)Gag>Aag p.E227K LGALS12_ENST00000340246.5_Missense_Mutation_p.E289K|LGALS12_ENST00000394618.3_Missense_Mutation_p.E288K|LGALS12_ENST00000425950.2_Missense_Mutation_p.E218K|LGALS12_ENST00000255684.5_Missense_Mutation_p.E279K NM_001142537.1 NP_001136009.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 288 Galectin 2. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 GAGATTCTTTGAGGTAGGTCA 0.557000 11 37 0 0 0.010729 0 0 NSD1 64324 broad.mit.edu 37 5 176562391 176562391 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:176562391C>G ENST00000439151.2 + 2 332 c.287C>G c.(286-288)tCc>tGc p.S96C NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.S96C NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 96 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GGATCAGAATCCTTTCAAGAC 0.438000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 12 47 0 0 0.010729 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48143273 48143273 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:48143273G>A ENST00000405493.2 - 10 1024 c.815C>T c.(814-816)gCt>gTt p.A272V RAPGEF3_ENST00000449771.2_Missense_Mutation_p.A314V|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A314V|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.A314V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A272V|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A272V|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A272V NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 272 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) ATTCACCAGAGCCAGCTGTCC 0.612000 9 62 0 0 0.006214 0 0 COPB1 1315 broad.mit.edu 37 11 14486569 14486569 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:14486569C>T ENST00000249923.3 - 18 2598 c.2298G>A c.(2296-2298)ctG>ctA p.L766L COPB1_ENST00000439561.2_Silent_p.L766L NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 766 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 CCACAAGTTTCAGATCCCCTG 0.393000 10 18 0 0 0.006214 0 0 RPS27A 6233 broad.mit.edu 37 2 55460509 55460509 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:55460509C>G ENST00000272317.6 + 3 383 c.59C>G c.(58-60)tCg>tGg p.S20W RPS27A_ENST00000404735.1_Missense_Mutation_p.S20W|RPS27A_ENST00000402285.3_Missense_Mutation_p.S20W NM_002954.5 NP_002945.1 P62979 RS27A_HUMAN ribosomal protein S27a 20 Ubiquitin-like. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane metal ion binding|structural constituent of ribosome cervix(1)|ovary(1)|urinary_tract(1) 3 GTTGAACCCTCGGATACGATA 0.408000 4 30 0 0 0.000602 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110023720 110023720 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:110023720G>C ENST00000453089.2 + 2 1638 c.757G>C c.(757-759)Gac>Cac p.D253H ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D284H|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D285H Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 284 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) AGGCCACAAAGACATTACAGT 0.428000 3 7 0 0 0.004672 0 0 FKBP11 51303 broad.mit.edu 37 12 49315828 49315828 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:49315828C>G ENST00000550765.1 - 6 943 c.545G>C c.(544-546)aGa>aCa p.R182T FKBP11_ENST00000444214.2_Missense_Mutation_p.R80T|ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron|AC073610.5_ENST00000537495.1_3'UTR NM_016594.2 NP_057678.1 Q9NYL4 FKB11_HUMAN FK506 binding protein 11, 19 kDa 182 protein folding integral to membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(3)|lung(1) 5 GACTTTGGGTCTATTGGCCTT 0.408000 7 104 0 0 0.001984 0 0 SUPT16H 11198 broad.mit.edu 37 14 21827748 21827748 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:21827748C>G ENST00000216297.2 - 19 2534 c.2196G>C c.(2194-2196)aaG>aaC p.K732N NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 732 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TGTGCCGCTTCTTCCCAAACA 0.463000 18 49 0 0 0.007413 0 0 BCKDK 10295 broad.mit.edu 37 16 31121725 31121725 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:31121725G>A ENST00000394951.1 + 8 1170 c.547G>A c.(547-549)Gaa>Aaa p.E183K BCKDK_ENST00000219794.6_Missense_Mutation_p.E183K|BCKDK_ENST00000394950.3_Missense_Mutation_p.E183K|BCKDK_ENST00000287507.3_Missense_Mutation_p.E183K O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 183 Histidine kinase. branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity breast(1)|stomach(1) 2 TTTACAGGATGAAAAGCTCGT 0.592000 20 59 0 0 0.007413 0 0 TUBA8 51807 broad.mit.edu 37 22 18604368 18604368 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:18604368G>C ENST00000330423.3 + 2 199 c.126G>C c.(124-126)aaG>aaC p.K42N TUBA8_ENST00000316027.6_5'UTR NM_018943.2 NP_061816.1 Q9NY65 TBA8_HUMAN tubulin, alpha 8 42 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 AAGCTAGCAAGATCAACGATG 0.552000 12 53 0 0 0.010729 0 0 PAPSS1 9061 broad.mit.edu 37 4 108578142 108578142 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:108578142C>T ENST00000265174.4 - 7 1077 c.805G>A c.(805-807)Gtt>Att p.V269I PAPSS1_ENST00000511304.1_5'UTR NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 269 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) TCTGCCAAAACCTGCACCCAC 0.393000 11 74 0 0 0.008291 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57069957 57069957 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:57069957G>A ENST00000532437.1 - 6 4970 c.4659C>T c.(4657-4659)ccC>ccT p.P1553P TNKS1BP1_ENST00000358252.3_Silent_p.P1553P Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1553 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) AGTCCTGACTGGGGGATCTGG 0.637000 5 20 0 0 0.000602 0 0 KDM6B 23135 broad.mit.edu 37 17 7752328 7752328 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:7752328C>T ENST00000254846.5 + 11 3111 c.2722C>T c.(2722-2724)Cgc>Tgc p.R908C KDM6B_ENST00000448097.2_Missense_Mutation_p.R908C NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 908 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GCCCCCTGCTCGCTCTGAGTC 0.711000 6 11 0 0 0.001168 0 0 PLEC 5339 broad.mit.edu 37 8 144991749 144991749 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:144991749C>T ENST00000322810.4 - 32 12820 c.12651G>A c.(12649-12651)ctG>ctA p.L4217L PLEC_ENST00000527096.1_Silent_p.L4103L|PLEC_ENST00000345136.3_Silent_p.L4080L|PLEC_ENST00000357649.2_Silent_p.L4084L|PLEC_ENST00000398774.2_Silent_p.L4048L|PLEC_ENST00000436759.2_Silent_p.L4107L|PLEC_ENST00000354589.3_Silent_p.L4080L|PLEC_ENST00000356346.3_Silent_p.L4066L|PLEC_ENST00000354958.2_Silent_p.L4058L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4217 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGGGGTCGGTCAGGATCTCGT 0.617000 12 45 0 0 0.002450 0 0 SAAL1 113174 broad.mit.edu 37 11 18105261 18105261 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:18105261C>T ENST00000524803.1 - 10 1109 c.1060G>A c.(1060-1062)Gac>Aac p.D354N SAAL1_ENST00000300013.4_Missense_Mutation_p.D353N|SAAL1_ENST00000529318.1_Missense_Mutation_p.D356N Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 354 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 ATGAGGCTGTCAATTAGAGGA 0.363000 4 30 0 0 0.009096 0 0 AHDC1 27245 broad.mit.edu 37 1 27876393 27876393 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:27876393C>T ENST00000374011.2 - 6 3202 c.2234G>A c.(2233-2235)cGg>cAg p.R745Q AHDC1_ENST00000247087.5_Missense_Mutation_p.R745Q|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 745 Gly-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CCCATTCTTCCGGGACCGTCT 0.677000 10 43 0 0 0.006214 0 0 GPR1 2825 broad.mit.edu 37 2 207041250 207041250 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:207041250G>C ENST00000407325.2 - 3 1084 c.722C>G c.(721-723)tCc>tGc p.S241C GPR1_ENST00000437420.1_Missense_Mutation_p.S241C NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3 NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2 P46091 GPR1_HUMAN G protein-coupled receptor 1 241 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 18 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) ATGCCTACTGGAGATCAGGAT 0.443000 7 38 0 0 0.001984 0 0 YTHDC2 64848 broad.mit.edu 37 5 112868689 112868689 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:112868689G>C ENST00000161863.4 + 5 1002 c.789G>C c.(787-789)gaG>gaC p.E263D YTHDC2_ENST00000515883.1_Missense_Mutation_p.E263D NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 263 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TTGCCGCAGAGAGACGGGAAA 0.393000 19 56 0 0 0.007413 0 0 RTTN 25914 broad.mit.edu 37 18 67801735 67801735 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr18:67801735G>A ENST00000255674.6 - 23 3214 c.2928C>T c.(2926-2928)ttC>ttT p.F976F RTTN_ENST00000437017.1_Silent_p.F976F|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 976 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) CAGGCAAACTGAAGACCGATG 0.323000 12 28 0 0 0.001368 0 0 SMG1 23049 broad.mit.edu 37 16 18865140 18865140 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:18865140G>C ENST00000446231.2 - 31 4945 c.4533C>G c.(4531-4533)ttC>ttG p.F1511L SMG1_ENST00000389467.3_Missense_Mutation_p.F1511L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1511 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CAGACTTGCAGAAAGATATGG 0.403000 11 24 0 0 0.001368 0 0 ATP13A3 79572 broad.mit.edu 37 3 194152469 194152469 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:194152469G>A ENST00000439040.1 - 22 3189 c.2398C>T c.(2398-2400)Cat>Tat p.H800Y ATP13A3_ENST00000256031.4_Missense_Mutation_p.H800Y Q9H7F0 AT133_HUMAN ATPase type 13A3 800 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GCTGATGGATGACTGCACTGC 0.388000 10 45 0 0 0.006214 0 0 PGAP3 93210 broad.mit.edu 37 17 37842184 37842184 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:37842184G>A ENST00000300658.4 - 2 362 c.270C>T c.(268-270)ttC>ttT p.F90F PGAP3_ENST00000429199.2_Silent_p.F90F|PGAP3_ENST00000378011.4_Silent_p.F90F|PGAP3_ENST00000579146.1_Silent_p.F90F NM_033419.3 NP_219487.3 Q96FM1 PGAP3_HUMAN post-GPI attachment to proteins 3 90 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 CCTTGCCATGGAACTGAGGCA 0.537000 6 32 0 0 0.003080 0 0 WNK4 65266 broad.mit.edu 37 17 40936541 40936541 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:40936541G>C ENST00000246914.5 + 4 1135 c.1114G>C c.(1114-1116)Gag>Cag p.E372Q NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 372 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GGCCACCTCTGAGTACCCGTA 0.597000 6 36 0 0 0.001984 0 0 TRIP11 9321 broad.mit.edu 37 14 92469778 92469778 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92469778C>T ENST00000267622.4 - 11 4915 c.4542G>A c.(4540-4542)ttG>ttA p.L1514L NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1514 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CTTTCTCTTTCAATAGCTGTT 0.378000 T PDGFRB AML 6 52 0 0 0.001984 0 0 DHX9 1660 broad.mit.edu 37 1 182853912 182853912 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:182853912C>T ENST00000367549.3 + 27 3535 c.3425C>T c.(3424-3426)tCa>tTa p.S1142L DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 1142 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 TCTAGACCCTCAGCTGCTGGT 0.448000 29 63 0 0 0.010818 0 0 CAPG 822 broad.mit.edu 37 2 85628369 85628369 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:85628369C>A ENST00000263867.4 - 5 684 c.435G>T c.(433-435)aaG>aaT p.K145N CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409724.1_Missense_Mutation_p.K145N|CAPG_ENST00000409921.1_Missense_Mutation_p.K145N|CAPG_ENST00000409670.1_Missense_Mutation_p.K145N NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 145 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 GGATGTTCTTCTTCCCCTTCA 0.602000 34 95 2.75727e-19 3.03072e-19 0.004878 1 0 OSGEPL1 64172 broad.mit.edu 37 2 190626240 190626240 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:190626240C>G ENST00000519810.1 - 3 469 c.127G>C c.(127-129)Gaa>Caa p.E43Q OSGEPL1_ENST00000264151.5_Missense_Mutation_p.E43Q|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.E43Q Q9H4B0 OSGP2_HUMAN O-sialoglycoprotein endopeptidase-like 1 43 proteolysis|tRNA processing metalloendopeptidase activity large_intestine(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831) CAACTAGTTTCAATTCCCAAT 0.313000 10 78 0 0 0.008291 0 0 KLB 152831 broad.mit.edu 37 4 39448239 39448239 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:39448239G>A ENST00000257408.4 + 4 1990 c.1893G>A c.(1891-1893)ctG>ctA p.L631L NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 631 Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 GTGAGGGGCTGAAGCTTGGCA 0.627000 27 54 0 0 0.004656 0 0 SLC22A4 6583 broad.mit.edu 37 5 131671648 131671648 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:131671648G>T ENST00000200652.3 + 8 1573 c.1399G>T c.(1399-1401)Gcc>Tcc p.A467S AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 467 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CACATCCACGGCCTCCAGAGT 0.483000 15 134 1.99824e-07 2.10646e-07 0.004990 1 0 NPC1L1 29881 broad.mit.edu 37 7 44578910 44578910 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:44578910C>T ENST00000289547.4 - 2 1141 c.1086G>A c.(1084-1086)ccG>ccA p.P362P NPC1L1_ENST00000546276.1_Silent_p.P362P|NPC1L1_ENST00000423141.1_Silent_p.P362P|NPC1L1_ENST00000381160.3_Silent_p.P362P NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 362 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AGGCCACCACCGGGATGACAG 0.622000 34 101 0 0 0.002836 0 0 MAN2A2 4122 broad.mit.edu 37 15 91448544 91448544 + Nonsense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:91448544G>T ENST00000360468.3 + 2 214 c.196G>T c.(196-198)Gag>Tag p.E66* MAN2A2_ENST00000559717.1_Nonsense_Mutation_p.E66* NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 66 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GGAGAACCATGAGATTATCAG 0.547000 25 83 1.55469e-16 1.70418e-16 0.003330 1 0 NBPF10 100132406 broad.mit.edu 37 1 145368591 145368591 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:145368591C>T ENST00000342960.5 + 84 10604 c.10569C>T c.(10567-10569)atC>atT p.I3523I NBPF10_ENST00000369338.1_Silent_p.I639I|NBPF10_ENST00000369339.2_Silent_p.I641I NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3523 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AACAGCACATCAGCTTCGCCC 0.448000 67 511 0 0 0.003610 0 0 NACA 4666 broad.mit.edu 37 12 57112180 57112180 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57112180C>T ENST00000454682.1 - 3 3415 c.3134G>A c.(3133-3135)gGa>gAa p.G1045E NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGCTGGACTTCCTTTGGGGGA 0.632000 T BCL6 NHL 31 40 0 0 0.012213 0 0 CELF6 60677 broad.mit.edu 37 15 72582528 72582528 + Nonsense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:72582528G>A ENST00000287202.5 - 4 717 c.463C>T c.(463-465)Cag>Tag p.Q155* RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000569311.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000539635.1_Nonsense_Mutation_p.Q16*|CELF6_ENST00000543764.2_Nonsense_Mutation_p.Q40*|CELF6_ENST00000567083.1_Nonsense_Mutation_p.Q155*|CELF6_ENST00000395258.2_Nonsense_Mutation_p.Q42* NM_052840.4 NP_443072.3 Q96J87 CELF6_HUMAN CUGBP, Elav-like family member 6 155 RRM 2. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2) 13 CCAAAGGGCTGGAACAGGCGT 0.617000 12 27 0 0 0.001368 0 0 CCL2 6347 broad.mit.edu 37 17 32583786 32583786 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:32583786G>C ENST00000225831.4 + 3 305 c.240G>C c.(238-240)caG>caC p.Q80H CCL2_ENST00000580907.1_3'UTR NM_002982.3 NP_002973.1 P13500 CCL2_HUMAN chemokine (C-C motif) ligand 2 80 angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication extracellular space CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 6 Breast(3;0.00224) Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153) UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103) Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641) ACCCCAAGCAGAAGTGGGTTC 0.488000 20 38 0 0 0.008871 0 0 AHSG 197 broad.mit.edu 37 3 186338532 186338532 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:186338532G>C ENST00000411641.2 + 7 1136 c.917G>C c.(916-918)gGa>gCa p.G306A AHSG_ENST00000273784.5_Missense_Mutation_p.G307A P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 306 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) GCTCCTCCAGGACACCAGTTG 0.632000 105 167 0 0 0.003610 0 0 SLC41A1 254428 broad.mit.edu 37 1 205779420 205779420 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:205779420C>G ENST00000367137.3 - 2 1164 c.150G>C c.(148-150)gtG>gtC p.V50V NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 50 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) GAGACTCAATCACCACCTCTA 0.642000 OREG0014163 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 76 0 0 0.004482 0 0 FOXD4 2298 broad.mit.edu 37 9 117879 117879 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:117879C>G ENST00000382500.2 - 1 538 c.241G>C c.(241-243)Gag>Cag p.E81Q NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 81 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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 endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GTGCCAAACTCTGAGGGGTCG 0.711000 14 246 0 0 0.006122 0 0 KIAA0556 23247 broad.mit.edu 37 16 27789012 27789012 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:27789012G>C ENST00000261588.4 + 26 4652 c.4633G>C c.(4633-4635)Gag>Cag p.E1545Q NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1545 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GCCCACATGTGAGCCCACCGT 0.647000 26 93 0 0 0.005443 0 0 MUC16 94025 broad.mit.edu 37 19 9047213 9047213 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:9047213G>A ENST00000397910.4 - 5 34621 c.34418C>T c.(34417-34419)aCa>aTa p.T11473I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11475 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGGAAAGTTGTAGTGCTGTC 0.507000 30 57 0 0 0.009535 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374262 95374262 + RNA SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:95374262C>T ENST00000494840.1 - 0 1599 NR_077228.1 TTTTGACCTTCCAGTCACAAC 0.463000 6 64 0 0 0.003080 0 0 DNAH11 8701 broad.mit.edu 37 7 21639530 21639530 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:21639530G>A ENST00000328843.6 + 15 2824 c.2793G>A c.(2791-2793)ctG>ctA p.L931L DNAH11_ENST00000409508.3_Silent_p.L931L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 931 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ACTTCTTTCTGAAGAATACAG 0.403000 Kartagener syndrome 13 16 0 0 0.001855 0 0 FLG 2312 broad.mit.edu 37 1 152282333 152282333 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:152282333G>C ENST00000368799.1 - 3 5064 c.5029C>G c.(5029-5031)Cca>Gca p.P1677A FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1677 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTTCTCCTGGACTTGACCTT 0.567000 Ichthyosis 129 468 0 0 0.003610 0 0 OR2W3 343171 broad.mit.edu 37 1 248059216 248059216 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:248059216G>C ENST00000537741.1 + 3 585 c.328G>C c.(328-330)Gtg>Ctg p.V110L OR2W3_ENST00000360358.3_Missense_Mutation_p.V110L Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCTGGGTGGTGTGGAGTGCCT 0.577000 23 60 0 0 0.002299 0 0 TRIP11 9321 broad.mit.edu 37 14 92471478 92471478 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471478C>T ENST00000267622.4 - 11 3215 c.2842G>A c.(2842-2844)Gag>Aag p.E948K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 948 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTCATTTGCTCATGCTGGTAT 0.363000 T PDGFRB AML 15 106 0 0 0.008871 0 0 PHF12 57649 broad.mit.edu 37 17 27244465 27244465 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:27244465C>G ENST00000577226.1 - 7 1318 c.972G>C c.(970-972)ctG>ctC p.L324L PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Silent_p.L324L|PHF12_ENST00000268756.3_Silent_p.L324L Q96QT6 PHF12_HUMAN PHD finger protein 12 324 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) TCTTCTGGTTCAGCTAGGGAC 0.493000 11 47 0 0 0.008291 0 0 GALNT16 57452 broad.mit.edu 37 14 69805378 69805378 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:69805378C>G ENST00000337827.4 + 10 1305 c.978C>G c.(976-978)ttC>ttG p.F326L GALNT16_ENST00000553669.1_Missense_Mutation_p.F326L|GALNT16_ENST00000448469.3_Missense_Mutation_p.F326L NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 AGCTCTCCTTCAGGGTGTGGA 0.592000 11 92 0 0 0.008291 0 0 IGF2R 3482 broad.mit.edu 37 6 160484469 160484469 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:160484469C>G ENST00000356956.1 + 27 3841 c.3693C>G c.(3691-3693)gaC>gaG p.D1231E NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1231 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AGGTGAAAGACCCAAGGCATG 0.493000 13 74 0 0 0.001855 0 0 ADSL 158 broad.mit.edu 37 22 40745953 40745953 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:40745953C>G ENST00000216194.7 + 2 327 c.271C>G c.(271-273)Cac>Gac p.H91D ADSL_ENST00000454266.2_Missense_Mutation_p.H91D|ADSL_ENST00000342312.6_Missense_Mutation_p.H91D NM_000026.2 NP_000017.1 P30566 PUR8_HUMAN adenylosuccinate lyase 91 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 TGTGATGGCTCACGTGCACAC 0.468000 4 74 0 0 0.009096 0 0 NSUN7 79730 broad.mit.edu 37 4 40752778 40752778 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:40752778C>A ENST00000381782.2 + 2 563 c.68C>A c.(67-69)aCt>aAt p.T23N NSUN7_ENST00000316607.5_Missense_Mutation_p.T23N NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 TCCCAACTCACTTCCCTGCCT 0.547000 29 70 2.65835e-16 2.90996e-16 0.007291 1 0 SPON1 10418 broad.mit.edu 37 11 14280917 14280917 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:14280917G>A ENST00000310358.7 + 0 2119 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) AGAGGTATGTGAAGCAGTTCC 0.652000 3 13 0 0 0.004672 0 0 BEST3 144453 broad.mit.edu 37 12 70049339 70049339 + Missense_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:70049339T>A ENST00000330891.5 - 10 1581 c.1355A>T c.(1354-1356)aAa>aTa p.K452I BEST3_ENST00000553096.1_Missense_Mutation_p.K346I|BEST3_ENST00000488961.1_Missense_Mutation_p.K239I|BEST3_ENST00000331471.4_Intron NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 452 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GAAGCAGGATTTCTTCCAGGT 0.592000 5 108 0 0 0.000602 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5306808 5306808 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:5306808G>A ENST00000274181.7 + 21 3516 c.3378G>A c.(3376-3378)tcG>tcA p.S1126S NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 1126 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CGGGACCCTCGAGGGGCAGCT 0.672000 4 34 0 0 0.009096 0 0 STK11 6794 broad.mit.edu 37 19 1220487 1220487 + Missense_Mutation SNP G G A rs121913315 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:1220487G>A ENST00000326873.7 + 4 1753 c.580G>A c.(580-582)Gac>Aac p.D194N NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 194 Protein kinase. D -> N (in PJS).|D -> V (in lung cancer; somatic mutation).|D -> Y (in melanoma; sporadic malignant; somatic mutation). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.D194Y(6)|p.Y156fs*87(4)|p.?(3)|p.D194N(3) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAAAATCTCCGACCTGGGCGT 0.677000 D194N(ALEXANDERCELLS_LIVER)|D194N(PLCPRF5_LIVER) 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 4 6 0 0 0.001168 0 0 BBS4 585 broad.mit.edu 37 15 73002044 73002044 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:73002044C>T ENST00000268057.4 + 3 121 c.80C>T c.(79-81)cCa>cTa p.P27L BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.P35L|BBS4_ENST00000539603.1_Missense_Mutation_p.P15L NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 27 Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 TGCCTAGCTCCAGAGTTTCCT 0.358000 Bardet-Biedl syndrome 25 90 0 0 0.006320 0 0 SSBP4 170463 broad.mit.edu 37 19 18543509 18543509 + Splice_Site SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:18543509G>C ENST00000270061.6 + 12 970 c.e12-1 SSBP4_ENST00000348495.5_Splice_Site NM_032627.4 NP_116016.1 Q9BWG4 SSBP4_HUMAN single stranded DNA binding protein 4 nucleus single-stranded DNA binding endometrium(2)|kidney(1)|skin(1) 4 CTTGTCCCCAGATCCCCTACT 0.647000 11 22 0 0 0.008291 0 0 RIMKLA 284716 broad.mit.edu 37 1 42880305 42880305 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:42880305G>C ENST00000431473.3 + 5 965 c.836G>C c.(835-837)gGc>gCc p.G279A NM_173642.3 NP_775913.2 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family member A 279 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 GCTAATGTTGGCTTCCTAGCC 0.483000 23 270 0 0 0.002299 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73280574 73280574 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:73280574C>G ENST00000286657.4 - 4 655 c.619G>C c.(619-621)Gaa>Caa p.E207Q NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 207 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding p.E207Q(1) NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGAGCCTGTTCTACAGCTGAT 0.363000 21 52 0 0 0.012319 0 0 SATB2 23314 broad.mit.edu 37 2 200173562 200173562 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:200173562A>G ENST00000443023.1 - 9 2949 c.1484T>C c.(1483-1485)gTc>gCc p.V495A SATB2_ENST00000260926.5_Missense_Mutation_p.V554A|SATB2_ENST00000417098.1_Missense_Mutation_p.V554A|SATB2_ENST00000428695.1_Missense_Mutation_p.V436A|SATB2_ENST00000457245.1_Missense_Mutation_p.V554A Q9UPW6 SATB2_HUMAN SATB homeobox 2 554 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTCATAGATGACATCCCTCTC 0.597000 21 76 0 0 0.002780 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34107680 34107680 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:34107680C>G ENST00000341394.4 + 10 1225 c.1036C>G c.(1036-1038)Cca>Gca p.P346A CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P346A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P346A|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P265A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P346A NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 346 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) CTCTTTGACTCCAGTGGCTCA 0.458000 5 48 0 0 0.000602 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94337703 94337703 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:94337703C>T ENST00000436063.2 - 5 2049 c.1992G>A c.(1990-1992)ctG>ctA p.L664L NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 664 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) CTCTCATCTTCAGTGCTTTGA 0.403000 72 151 0 0 0.003610 0 0 PRKAG3 53632 broad.mit.edu 37 2 219695504 219695504 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:219695504G>A ENST00000439262.2 - 3 214 c.119C>T c.(118-120)tCg>tTg p.S40L PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Missense_Mutation_p.S65L|PRKAG3_ENST00000529249.1_Missense_Mutation_p.S65L NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 65 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCCTCCACCGACTTCTGCCT 0.607000 28 61 0 0 0.010818 0 0 SELT 51714 broad.mit.edu 37 3 150321201 150321201 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:150321201G>C ENST00000471696.1 + 1 127 c.52G>C c.(52-54)Gag>Cag p.E18Q SELT_ENST00000477889.1_5'UTR|SELT_ENST00000480740.1_Intron|SELT_ENST00000485923.1_5'UTR NM_016275.3 NP_057359.2 P62341 SELT_HUMAN 18 RSE -> WSD (in Ref. 4; AAH09611). cell redox homeostasis|selenocysteine incorporation selenium binding LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GGTCCGGAGCGAGGCCTCGGC 0.602000 7 29 0 0 0.001984 0 0 DYM 54808 broad.mit.edu 37 18 46906126 46906126 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr18:46906126C>A ENST00000269445.6 - 4 653 c.196G>T c.(196-198)Gaa>Taa p.E66* DYM_ENST00000442713.2_Intron NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 66 E -> K (in Ref. 2; BAC11088). Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 GGATTGTTTTCAACTGCAAGA 0.303000 15 42 2.31682e-05 2.40732e-05 0.003163 1 0 PRUNE2 158471 broad.mit.edu 37 9 79244121 79244121 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:79244121C>T ENST00000428286.1 - 16 9262 c.8062G>A c.(8062-8064)Gag>Aag p.E2688K PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000376718.3_Missense_Mutation_p.E3046K|PRUNE2_ENST00000443509.2_Missense_Mutation_p.E295K|PRUNE2_ENST00000223609.6_Missense_Mutation_p.E311K Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 3046 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ATGATGCTCTCTGGAATGTGG 0.388000 4 14 0 0 0.009096 0 0 CMSS1 84319 broad.mit.edu 37 3 99881149 99881149 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:99881149G>A ENST00000421999.2 + 4 374 c.228G>A c.(226-228)aaG>aaA p.K76K CMSS1_ENST00000489081.1_Silent_p.K58K NM_032359.3 NP_115735.2 cms1 ribosomal small subunit homolog (yeast) TATCTTAGAAGAAAATTACTG 0.383000 6 51 0 0 0.001168 0 0 KRT5 3852 broad.mit.edu 37 12 52910942 52910942 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:52910942C>G ENST00000252242.4 - 6 1557 c.1167G>C c.(1165-1167)atG>atC p.M389I NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 389 Coil 2.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) TCATCCGGTTCATCTCAGAGA 0.522000 26 99 0 0 0.003954 0 0 SZT2 23334 broad.mit.edu 37 1 43907767 43907767 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:43907767G>A ENST00000562955.1 + 55 7668 c.7668G>A c.(7666-7668)agG>agA p.R2556R SZT2_ENST00000372442.1_Silent_p.R1714R NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2613 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TTCTGGGAAGGAACTTCTTGC 0.642000 4 46 0 0 0.009096 0 0 C2orf57 165100 broad.mit.edu 37 2 232458485 232458485 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:232458485T>C ENST00000313965.2 + 1 911 c.823T>C c.(823-825)Tcc>Ccc p.S275P NM_152614.2 NP_689827.2 Q53QW1 CB057_HUMAN chromosome 2 open reading frame 57 275 endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 19 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) CTACATGCGCTCCATGACCAG 0.662000 3 88 0 0 0.004672 0 0 NR1I3 9970 broad.mit.edu 37 1 161199674 161199674 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:161199674C>G ENST00000367983.4 - 9 1254 c.960G>C c.(958-960)cgG>cgC p.R320R NR1I3_ENST00000504010.1_Silent_p.R252R|NR1I3_ENST00000428574.2_Intron|TOMM40L_ENST00000367987.1_3'UTR|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000367981.3_Silent_p.R296R|NR1I3_ENST00000367982.4_Silent_p.R324R|TOMM40L_ENST00000474486.1_3'UTR|NR1I3_ENST00000502985.1_3'UTR|NR1I3_ENST00000367979.2_Silent_p.R329R|NR1I3_ENST00000511676.1_Silent_p.R291R|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000367985.3_Silent_p.R286R|NR1I3_ENST00000515621.1_Silent_p.R245R|NR1I3_ENST00000367984.4_Silent_p.R281R|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000442691.2_Intron|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000511748.1_Intron|TOMM40L_ENST00000367988.3_3'UTR|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000508387.1_3'UTR|NR1I3_ENST00000367980.2_Silent_p.R329R|NR1I3_ENST00000505005.1_Intron Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 324 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CATTAATGCTCCGGAGCTCAG 0.557000 15 44 0 0 0.003163 0 0 MUC4 4585 broad.mit.edu 37 3 195515905 195515905 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:195515905G>A ENST00000463781.3 - 2 3005 c.2546C>T c.(2545-2547)tCc>tTc p.S849F MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S849F NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 854 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGCTGAGGCGGACAGCAATTC 0.557000 13 109 0 0 0.002450 0 0 OSR2 116039 broad.mit.edu 37 8 99963753 99963753 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:99963753C>G ENST00000297565.4 + 4 1259 c.763C>G c.(763-765)Cca>Gca p.P255A OSR2_ENST00000457907.2_Missense_Mutation_p.P376A|OSR2_ENST00000522510.1_Missense_Mutation_p.P255A|OSR2_ENST00000435298.2_Intron NM_001142462.1 NP_001135934.1 Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 255 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) ACAGGAATCTCCACACAAATG 0.428000 3 7 0 0 0.004672 0 0 EIF4G2 1982 broad.mit.edu 37 11 10828424 10828424 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:10828424G>C ENST00000526148.1 - 3 560 c.50C>G c.(49-51)tCg>tGg p.S17W EIF4G2_ENST00000525995.1_5'UTR|EIF4G2_ENST00000525681.1_Missense_Mutation_p.S17W|EIF4G2_ENST00000396525.2_Missense_Mutation_p.S17W|EIF4G2_ENST00000339995.5_Missense_Mutation_p.S17W NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 17 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TCCTCCGCCCGAAGAAGCACT 0.388000 27 94 0 0 0.005443 0 0 ZNF784 147808 broad.mit.edu 37 19 56133815 56133815 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:56133815C>T ENST00000325351.4 - 2 313 c.274G>A c.(274-276)Gag>Aag p.E92K ZNF784_ENST00000591479.1_3'UTR NM_203374.1 NP_976308.1 Q8NCA9 ZN784_HUMAN zinc finger protein 784 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CCGCCTCCCTCGGCCCCAGCC 0.711000 5 18 0 0 0.001168 0 0 GPR160 26996 broad.mit.edu 37 3 169802027 169802027 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:169802027C>T ENST00000355897.5 + 4 875 c.267C>T c.(265-267)ttC>ttT p.F89F NM_014373.2 NP_055188.1 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 89 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GCATTAGGTTCACTAAATACC 0.303000 8 82 0 0 0.003080 0 0 SLC6A7 6534 broad.mit.edu 37 5 149576346 149576346 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:149576346C>G ENST00000230671.2 + 3 656 c.285C>G c.(283-285)ctC>ctG p.L95L SLC6A7_ENST00000524041.1_Silent_p.L95L NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 95 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TCCTGGAGCTCTCCCTGGGCC 0.642000 39 115 0 0 0.007835 0 0 MUC16 94025 broad.mit.edu 37 19 9000195 9000195 + Missense_Mutation SNP T T C rs150399289 by1000genomes TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:9000195T>C ENST00000397910.4 - 55 40765 c.40562A>G c.(40561-40563)aAc>aGc p.N13521S MUC16_ENST00000380951.5_Missense_Mutation_p.N162S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13523 SEA 10. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AACACTGGTGTTCTTGAACAC 0.567000 30 39 0 0 0.009535 0 0 LTBP4 8425 broad.mit.edu 37 19 41125251 41125251 + Splice_Site SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:41125251G>A ENST00000308370.7 + 26 3268 c.e26-1 LTBP4_ENST00000204005.9_Splice_Site|LTBP4_ENST00000396819.3_Splice_Site|LTBP4_ENST00000243562.9_Splice_Site|LTBP4_ENST00000602240.1_Splice_Site|LTBP4_ENST00000545697.1_Splice_Site NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCTGCTTACAGATGTGAACGA 0.468000 38 104 0 0 0.006999 0 0 SCN2A 6326 broad.mit.edu 37 2 166210745 166210745 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:166210745C>T ENST00000357398.3 + 17 3253 c.2963C>T c.(2962-2964)tCt>tTt p.S988F SCN2A_ENST00000283256.6_Missense_Mutation_p.S988F|SCN2A_ENST00000375427.2_Missense_Mutation_p.S988F|SCN2A_ENST00000375437.2_Missense_Mutation_p.S988F Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 988 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TCCTTCAGTTCTGACAATCTT 0.383000 40 171 0 0 0.011902 0 0 LAT 27040 broad.mit.edu 37 16 28997455 28997455 + Splice_Site SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:28997455G>C ENST00000395456.2 + 4 485 c.e4-1 LAT_ENST00000563964.1_Intron|LAT_ENST00000454369.2_Splice_Site|LAT_ENST00000395461.3_Splice_Site|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_Splice_Site|LAT_ENST00000354453.4_Splice_Site|LAT_ENST00000564277.1_Splice_Site|LAT_ENST00000360872.5_Splice_Site NM_001014987.1|NM_001014988.1|NM_014387.3 NP_001014987.1|NP_001014988.1|NP_055202.1 O43561 LAT_HUMAN linker for activation of T cells calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity large_intestine(2)|lung(3)|urinary_tract(1) 6 Hepatocellular(780;0.244) TGTGTCCTCAGACACGGTTGC 0.612000 36 83 0 0 0.006230 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681334 44681334 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:44681334C>T ENST00000381176.4 - 4 705 c.573G>A c.(571-573)ctG>ctA p.L191L NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 191 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) GGAAGGTCATCAGCGGTGGGC 0.607000 19 72 0 0 0.012319 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 21 0 0 0.001168 0 0 ALG11 440138 broad.mit.edu 37 13 52593181 52593181 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:52593181G>A ENST00000521508.1 + 2 182 c.177G>A c.(175-177)ggG>ggA p.G59G ALG11_ENST00000523764.1_Intron NM_001004127.2 NP_001004127.2 ALG11, alpha-1,2-mannosyltransferase endometrium(1)|large_intestine(6)|lung(4)|ovary(2) 13 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.44e-08) GCAAAAATGGGAAAAATCAAA 0.388000 16 39 0 0 0.003163 0 0 G6PD 2539 broad.mit.edu 37 X 153760233 153760233 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:153760233C>A ENST00000393562.2 - 13 2003 c.1620G>T c.(1618-1620)gtG>gtT p.V540V G6PD_ENST00000393564.2_Silent_p.V510V|G6PD_ENST00000369620.2_Silent_p.V556V NM_000402.3 NP_000393.4 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase 510 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4) 18 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGTGGGGGTTCACCCACTTGT 0.677000 7 9 8.12818e-05 8.40193e-05 0.001984 1 0 ZNF383 163087 broad.mit.edu 37 19 37726940 37726940 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:37726940A>G ENST00000589413.1 + 7 779 c.196A>G c.(196-198)Atg>Gtg p.M66V ZNF383_ENST00000590503.1_Missense_Mutation_p.M66V|ZNF383_ENST00000352998.3_Missense_Mutation_p.M66V Q8NA42 ZN383_HUMAN zinc finger protein 383 66 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGAGCCCTGGATGGTTGGCAG 0.498000 26 71 0 0 0.007291 0 0 GDPD3 79153 broad.mit.edu 37 16 30116264 30116264 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:30116264C>T ENST00000406256.3 - 10 1263 c.886G>A c.(886-888)Gtc>Atc p.V296I NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 296 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 TCCGTTATGACGCCAGTGGCT 0.567000 15 43 0 0 0.003163 0 0 MAP1A 4130 broad.mit.edu 37 15 43815940 43815940 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:43815940G>A ENST00000382031.1 + 5 3014 c.2983G>A c.(2983-2985)Gat>Aat p.D995N MAP1A_ENST00000300231.5_Missense_Mutation_p.D757N|MAP1A_ENST00000399453.1_Missense_Mutation_p.D757N P78559 MAP1A_HUMAN microtubule-associated protein 1A 757 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GGAGATCCATGATGAGCCGGA 0.562000 11 16 0 0 0.008291 0 0 AKAP13 11214 broad.mit.edu 37 15 86118486 86118486 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:86118486C>G ENST00000394518.2 + 6 882 c.787C>G c.(787-789)Cat>Gat p.H263D AKAP13_ENST00000361243.2_Missense_Mutation_p.H263D NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 263 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TGATTCACATCATGAACACCC 0.393000 33 91 0 0 0.003271 0 0 GRAMD2 196996 broad.mit.edu 37 15 72460095 72460095 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:72460095G>T ENST00000309731.7 - 5 367 c.354C>A c.(352-354)ctC>ctA p.L118L NM_001012642.2 NP_001012660.1 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 118 GRAM. integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 CCTTGCCAAAGAGGCTGGCAT 0.597000 16 63 6.94344e-10 7.42744e-10 0.006122 1 0 MALAT1 378938 broad.mit.edu 37 11 65271805 65271805 + RNA SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65271805G>C ENST00000534336.1 + 0 6573 NR_002819.2 AGACTTCACAGAGAATGCAGT 0.413000 6 21 0 0 0.001168 0 0 SOD1 6647 broad.mit.edu 37 21 33031995 33031995 + Translation_Start_Site SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:33031995G>A ENST00000270142.6 + 0 61 SOD1_ENST00000389995.4_De_novo_Start_InFrame NM_000454.4 NP_000445.1 P00441 SODC_HUMAN superoxide dismutase 1, soluble activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding NS(1)|endometrium(2)|kidney(1) 4 GCGGAGACGGGGTGCTGGTTT 0.662000 5 9 0 0 0.000602 0 0 WWP2 11060 broad.mit.edu 37 16 69874159 69874159 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:69874159G>C ENST00000359154.2 + 5 572 c.471G>C c.(469-471)ctG>ctC p.L157L WWP2_ENST00000542271.1_Silent_p.L41L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.L157L|WWP2_ENST00000356003.2_Silent_p.L157L|WWP2_ENST00000569174.1_Silent_p.L157L NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 157 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCAGTGCCCTGACAGATGGTG 0.602000 3 68 0 0 0.009096 0 0 BRD9 65980 broad.mit.edu 37 5 887482 887482 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:887482C>T ENST00000323510.4 - 3 362 c.363G>A c.(361-363)atG>atA p.M121I BRD9_ENST00000467963.1_Missense_Mutation_p.M237I|BRD9_ENST00000483173.1_Missense_Mutation_p.M184I|BRD9_ENST00000388890.4_Missense_Mutation_p.M121I|BRD9_ENST00000435709.2_Missense_Mutation_p.M121I Q9H8M2 BRD9_HUMAN bromodomain containing 9 237 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) TTACTTTGCTCATCATCTTAA 0.507000 18 158 0 0 0.008871 0 0 ESRRG 2104 broad.mit.edu 37 1 216850530 216850530 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:216850530G>A ENST00000391890.3 - 4 808 c.291C>T c.(289-291)ctC>ctT p.L97L ESRRG_ENST00000463665.1_Silent_p.L97L|ESRRG_ENST00000366940.2_Silent_p.L97L|ESRRG_ENST00000493748.1_Silent_p.L97L|ESRRG_ENST00000408911.3_Silent_p.L120L|ESRRG_ENST00000360012.3_Silent_p.L97L|ESRRG_ENST00000361525.3_Silent_p.L97L|ESRRG_ENST00000487276.1_Silent_p.L97L|ESRRG_ENST00000493603.1_Silent_p.L97L|ESRRG_ENST00000366938.2_Silent_p.L97L|ESRRG_ENST00000366937.1_Silent_p.L125L|ESRRG_ENST00000359162.2_Silent_p.L97L|ESRRG_ENST00000361395.2_Silent_p.L97L NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 120 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) GCATCGAGTTGAGCATGTATT 0.502000 23 103 0 0 0.003954 0 0 ATMIN 23300 broad.mit.edu 37 16 81078338 81078338 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:81078338C>G ENST00000566488.1 + 3 2730 c.1767C>G c.(1765-1767)gtC>gtG p.V589V ATMIN_ENST00000299575.4_Silent_p.V745V|ATMIN_ENST00000564241.1_Silent_p.V589V|ATMIN_ENST00000539819.1_3'UTR O43313 ATMIN_HUMAN ATM interactor 745 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 CTGAAGGAGTCTCCACTGCTA 0.453000 10 97 0 0 0.006214 0 0 IGHV3-7 28452 broad.mit.edu 37 14 106518403 106518403 + RNA SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:106518403C>T ENST00000390598.2 - 0 426 CTGTGTCTCTCGCACAGTAAT 0.577000 19 280 0 0 0.002780 0 0 MLNR 2862 broad.mit.edu 37 13 49796350 49796350 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:49796350C>T ENST00000218721.1 + 2 1076 c.1076C>T c.(1075-1077)tCa>tTa p.S359L MLNR_ENST00000398307.1_3'UTR NM_001507.1 NP_001498.1 O43193 MTLR_HUMAN motilin receptor 359 digestion integral to plasma membrane growth hormone-releasing hormone receptor activity endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1) 14 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) AACCTCATTTCAAAGAAGTAC 0.512000 37 105 0 0 0.007835 0 0 RUFY3 22902 broad.mit.edu 37 4 71660553 71660553 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:71660553G>A ENST00000381006.3 + 14 2078 c.1499G>A c.(1498-1500)aGa>aAa p.R500K RUFY3_ENST00000502653.1_Missense_Mutation_p.R447K NM_001037442.2 NP_001032519.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 335 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) AAAGAAAGAAGATTACAAAAC 0.373000 6 90 0 0 0.001984 0 0 MYO7A 4647 broad.mit.edu 37 11 76873901 76873901 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:76873901C>T ENST00000409709.3 + 14 1829 c.1557C>T c.(1555-1557)ggC>ggT p.G519G MYO7A_ENST00000409893.1_Silent_p.G519G|MYO7A_ENST00000409619.2_Silent_p.G508G|MYO7A_ENST00000458637.2_Silent_p.G519G NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 519 Myosin head-like. G -> D (in USH1B; the deleterious effect remains to be proven). actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CTCCCCAGGGCACAGACACCA 0.597000 38 87 0 0 0.004289 0 0 KIAA1551 55196 broad.mit.edu 37 12 32135670 32135670 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:32135670C>G ENST00000312561.4 + 4 2195 c.1781C>G c.(1780-1782)aCt>aGt p.T594S KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 GCACGTAAGACTCAGAAGACA 0.358000 11 16 0 0 0.010729 0 0 MCM7 4176 broad.mit.edu 37 7 99696309 99696309 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:99696309G>A ENST00000303887.5 - 6 1257 c.612C>T c.(610-612)atC>atT p.I204I MCM7_ENST00000343023.6_Silent_p.I204I|MCM7_ENST00000354230.3_Silent_p.I28I NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 204 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) TTGGGCACATGATCAGAGGCA 0.517000 25 88 0 0 0.003330 0 0 HERC2 8924 broad.mit.edu 37 15 28463722 28463722 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:28463722G>A ENST00000261609.7 - 38 6049 c.5941C>T c.(5941-5943)Cat>Tat p.H1981Y NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1981 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 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) ATCTCAGCATGAACTCCAGCA 0.458000 37 71 0 0 0.005524 0 0 ARRDC3 57561 broad.mit.edu 37 5 90670857 90670857 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:90670857C>T ENST00000265138.3 - 5 1018 c.752G>A c.(751-753)cGt>cAt p.R251H NM_020801.2 NP_065852.1 Q96B67 ARRD3_HUMAN arrestin domain containing 3 251 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GGATTCCCCACGCAAGTTAGC 0.468000 13 66 0 0 0.001855 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091557 143091557 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:143091557C>T ENST00000367603.2 - 5 5061 c.4319G>A c.(4318-4320)cGa>cAa p.R1440Q HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1440Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.R1440Q NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AGAAAGCATTCGCTTGCTACC 0.517000 23 57 0 0 0.002780 0 0 MAP4K1 11184 broad.mit.edu 37 19 39101700 39101700 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:39101700C>G ENST00000591517.1 - 11 829 c.801G>C c.(799-801)aaG>aaC p.K267N MAP4K1_ENST00000589130.1_Missense_Mutation_p.K263N|MAP4K1_ENST00000396857.2_Missense_Mutation_p.K267N|MAP4K1_ENST00000589002.1_Intron|MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000586296.1_Missense_Mutation_p.K267N NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 267 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CACTGAGCATCTTGGTGGCGC 0.532000 6 16 0 0 0.001168 0 0 FBN2 2201 broad.mit.edu 37 5 127599217 127599217 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:127599217C>G ENST00000508053.1 - 69 9066 c.8092G>C c.(8092-8094)Gag>Cag p.E2698Q FBN2_ENST00000262464.4_Missense_Mutation_p.E2698Q P35556 FBN2_HUMAN fibrillin 2 2698 EGF-like 47; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GACGAGCACTCATTCACGTCG 0.602000 43 127 0 0 0.010771 0 0 GATAD2B 57459 broad.mit.edu 37 1 153790563 153790563 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:153790563G>A ENST00000368655.4 - 5 925 c.682C>T c.(682-684)Cgg>Tgg p.R228W NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 228 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R228W(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCCCCAGGCCGAGAGGGAAGC 0.522000 46 129 0 0 0.010771 0 0 RARS 5917 broad.mit.edu 37 5 167922356 167922356 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:167922356G>C ENST00000231572.3 + 6 670 c.616G>C c.(616-618)Gag>Cag p.E206Q RARS_ENST00000538719.1_5'UTR NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 206 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TATAGCTAAAGAGATGCATGT 0.428000 3 161 0 0 0.004672 0 0 GNPDA1 10007 broad.mit.edu 37 5 141385711 141385711 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:141385711C>G ENST00000508177.1 - 3 1165 c.407G>C c.(406-408)gGa>gCa p.G136A GNPDA1_ENST00000513454.1_Missense_Mutation_p.G136A|GNPDA1_ENST00000500692.2_Missense_Mutation_p.G136A|GNPDA1_ENST00000311337.6_Missense_Mutation_p.G136A|GNPDA1_ENST00000458112.2_Missense_Mutation_p.G102A|GNPDA1_ENST00000503794.1_Missense_Mutation_p.G136A|GNPDA1_ENST00000542860.1_Intron P46926 GNPI1_HUMAN glucosamine-6-phosphate deaminase 1 136 generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity central_nervous_system(1)|lung(1)|skin(3)|stomach(1) 6 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCTCACCTCCAACAAATAG 0.532000 25 76 0 0 0.002780 0 0 TRRAP 8295 broad.mit.edu 37 7 98545957 98545957 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:98545957G>C ENST00000359863.4 + 33 4850 c.4641G>C c.(4639-4641)ctG>ctC p.L1547L TRRAP_ENST00000446306.3_Silent_p.L1528L|TRRAP_ENST00000355540.3_Silent_p.L1529L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1547 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGGCGATGCTGATCGAGGTAA 0.512000 13 50 0 0 0.001855 0 0 RBM27 54439 broad.mit.edu 37 5 145651095 145651095 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:145651095C>G ENST00000265271.5 + 19 3012 c.2846C>G c.(2845-2847)tCt>tGt p.S949C RBM27_ENST00000506502.1_Missense_Mutation_p.S894C NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 949 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCATGTCCTCTCAAGGTCGA 0.478000 8 30 0 0 0.008291 0 0 AGL 178 broad.mit.edu 37 1 100366244 100366244 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:100366244C>G ENST00000294724.4 + 26 3893 c.3415C>G c.(3415-3417)Cta>Gta p.L1139V AGL_ENST00000361915.3_Missense_Mutation_p.L1139V|AGL_ENST00000370161.2_Missense_Mutation_p.L1123V|AGL_ENST00000361302.3_Missense_Mutation_p.L1123V|AGL_ENST00000361522.4_Missense_Mutation_p.L1122V|AGL_ENST00000370165.3_Missense_Mutation_p.L1139V|AGL_ENST00000370163.3_Missense_Mutation_p.L1139V NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1139 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CATTCCTAATCTACTGGGTGA 0.398000 37 151 0 0 0.006999 0 0 SCUBE2 57758 broad.mit.edu 37 11 9087482 9087482 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:9087482G>A ENST00000457346.2 - 7 880 c.806C>T c.(805-807)tCa>tTa p.S269L SCUBE2_ENST00000450649.2_Missense_Mutation_p.S269L|SCUBE2_ENST00000309263.3_Missense_Mutation_p.S269L|SCUBE2_ENST00000520467.1_Missense_Mutation_p.S269L Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 269 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) ATCCACCACTGATGTGGTGTT 0.522000 14 43 0 0 0.002450 0 0 ALPI 248 broad.mit.edu 37 2 233321905 233321905 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:233321905C>T ENST00000295463.3 + 5 598 c.521C>T c.(520-522)tCg>tTg p.S174L NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 174 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CAGCACGCCTCGCCAGCCGGC 0.627000 16 50 0 0 0.003163 0 0 LAMA3 3909 broad.mit.edu 37 18 21404467 21404467 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr18:21404467G>C ENST00000313654.9 + 21 2750 c.2509G>C c.(2509-2511)Gac>Cac p.D837H LAMA3_ENST00000399516.3_Missense_Mutation_p.D837H NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 837 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.D837N(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGTTTTGCAGACCCATTTTC 0.458000 31 75 0 0 0.009535 0 0 ALPK3 57538 broad.mit.edu 37 15 85407691 85407691 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:85407691G>A ENST00000258888.5 + 12 5291 c.5124G>A c.(5122-5124)ctG>ctA p.L1708L NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1708 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CACTGTATCTGATCTACCGGC 0.527000 35 59 0 0 0.004878 0 0 WDR35 57539 broad.mit.edu 37 2 20130163 20130163 + Nonsense_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:20130163T>A ENST00000345530.3 - 26 3263 c.3148A>T c.(3148-3150)Aag>Tag p.K1050* WDR35_ENST00000281405.4_Nonsense_Mutation_p.K1039*|WDR35_ENST00000416055.2_Nonsense_Mutation_p.K523* NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 1050 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCACCTGTCTTCAGTGCAGTG 0.433000 19 173 0 0 0.012213 0 0 BCKDK 10295 broad.mit.edu 37 16 31121565 31121565 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:31121565G>A ENST00000394951.1 + 7 1086 c.463G>A c.(463-465)Gtg>Atg p.V155M BCKDK_ENST00000219794.6_Missense_Mutation_p.V155M|BCKDK_ENST00000394950.3_Missense_Mutation_p.V155M|BCKDK_ENST00000287507.3_Missense_Mutation_p.V155M O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 155 branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity breast(1)|stomach(1) 2 CTGCCAGCTGGTGCGACAGCT 0.607000 18 66 0 0 0.004990 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959660 45959660 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:45959660G>C ENST00000400375.1 - 1 418 c.374C>G c.(373-375)tCt>tGt p.S125C TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 125 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 CTGGCAGCTAGACTGCTGGCA 0.617000 32 113 0 0 0.002836 0 0 DTD1 92675 broad.mit.edu 37 20 18724748 18724748 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:18724748C>G ENST00000377452.3 + 5 662 c.482C>G c.(481-483)tCa>tGa p.S161* NM_080820.4 NP_543010.3 Q8TEA8 DTD1_HUMAN D-tyrosyl-tRNA deacylase 1 161 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds large_intestine(4)|lung(1)|ovary(2) 7 aatCAGCTGTCAAAGCTCGAA 0.413000 5 8 0 0 0.000602 0 0 P4HB 5034 broad.mit.edu 37 17 79813047 79813047 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:79813047C>G ENST00000331483.4 - 4 817 c.595G>C c.(595-597)Gac>Cac p.D199H P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Missense_Mutation_p.D155H|P4HB_ENST00000576390.1_Intron NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide 199 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity p.D199H(1) NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) CCATCTTTGTCGAGCTGGTAT 0.542000 65 197 0 0 0.003610 0 0 FKBPL 63943 broad.mit.edu 37 6 32097143 32097143 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:32097143C>T ENST00000375156.3 - 2 685 c.415G>A c.(415-417)Gag>Aag p.E139K NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 139 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity GTCCAGCCCTCTGGCGGCCCT 0.562000 85 228 0 0 0.003610 0 0 NEK1 4750 broad.mit.edu 37 4 170523167 170523167 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:170523167G>A ENST00000439128.2 - 3 846 c.206C>T c.(205-207)tCa>tTa p.S69L NEK1_ENST00000512193.1_Missense_Mutation_p.S69L|NEK1_ENST00000511633.1_Missense_Mutation_p.S69L|NEK1_ENST00000507142.1_Missense_Mutation_p.S69L|NEK1_ENST00000510533.1_Missense_Mutation_p.S69L NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 69 Protein kinase. cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) ACCTTCAAATGATTCTCTATA 0.328000 13 75 0 0 0.001368 0 0 STEAP4 79689 broad.mit.edu 37 7 87913538 87913538 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:87913538G>A ENST00000380079.4 - 2 148 c.47C>T c.(46-48)tCa>tTa p.S16L STEAP4_ENST00000414498.1_Missense_Mutation_p.S16L|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.S16L|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 16 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) TTGCTTTTCTGAAGAATTCAT 0.353000 10 34 0 0 0.008291 0 0 POLE 5426 broad.mit.edu 37 12 133248806 133248806 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:133248806C>T ENST00000320574.5 - 16 1832 c.1789G>A c.(1789-1791)Gaa>Aaa p.E597K POLE_ENST00000535270.1_Missense_Mutation_p.E570K NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 597 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTACCTCTTCAAAGTTGGTG 0.557000 DNA polymerases (catalytic subunits) 12 64 0 0 0.001368 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062393 76062393 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:76062393C>T ENST00000260045.3 - 5 1906 c.1801G>A c.(1801-1803)Gct>Act p.A601T NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 601 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 CATTTAAGAGCTTTGAGGTGC 0.413000 37 89 0 0 0.013114 0 0 ETS2 2114 broad.mit.edu 37 21 40194812 40194812 + Nonstop_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:40194812G>T ENST00000360214.3 + 11 1869 c.1409G>T c.(1408-1410)tGa>tTa p.*470L ETS2_ENST00000360938.3_Nonstop_Mutation_p.*470L NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 0 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) ACGGAGGACTGAGGTCGCCGG 0.657000 31 11 1.74807e-11 1.88e-11 0.010818 1 0 MALAT1 378938 broad.mit.edu 37 11 65273372 65273372 + RNA SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65273372G>C ENST00000534336.1 + 0 8140 NR_002819.2 TTGAGTGGCTGAGAGGGCTTT 0.428000 21 65 0 0 0.012319 0 0 C1orf159 54991 broad.mit.edu 37 1 1019467 1019467 + Splice_Site SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:1019467C>T ENST00000482816.1 - 10 821 c.e10-1 C1orf159_ENST00000448924.1_Silent_p.E292E|C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000379339.1_Silent_p.E292E|C1orf159_ENST00000294576.5_Silent_p.E256E|C1orf159_ENST00000379320.1_Silent_p.E256E Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 integral to membrane all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GACCCCACGTCTCGGGAACAG 0.647000 3 23 0 0 0.004672 0 0 PMPCA 23203 broad.mit.edu 37 9 139309033 139309033 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:139309033G>C ENST00000371717.3 + 5 475 c.466G>C c.(466-468)Gat>Cat p.D156H PMPCA_ENST00000371720.1_Intron|PMPCA_ENST00000399219.3_Intron NM_015160.1 NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 156 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) TGTGTCTGCTGATAGCAAAGG 0.572000 6 94 0 0 0.001168 0 0 FKBPL 63943 broad.mit.edu 37 6 32097257 32097257 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:32097257C>A ENST00000375156.3 - 2 571 c.301G>T c.(301-303)Gat>Tat p.D101Y NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 101 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity AAGCTCCCATCGGGGCAGTAC 0.517000 21 84 1.01871e-10 1.09265e-10 0.008871 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85500377 85500377 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:85500377C>T ENST00000393217.2 + 15 3422 c.3361C>T c.(3361-3363)Caa>Taa p.Q1121* NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1121 LRRCT. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) CCCACTTCTTCAAGAAACAAA 0.333000 11 61 0 0 0.010729 0 0 BIN3 55909 broad.mit.edu 37 8 22494439 22494439 + Nonsense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:22494439G>A ENST00000276416.6 - 3 162 c.94C>T c.(94-96)Cag>Tag p.Q32* BIN3_ENST00000399977.4_Silent_p.F4F|BIN3_ENST00000520292.1_Nonsense_Mutation_p.Q32*|BIN3_ENST00000519513.1_Intron|BIN3_ENST00000519335.1_5'UTR NM_018688.4 NP_061158.1 Q9NQY0 BIN3_HUMAN bridging integrator 3 32 BAR. actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth cytoplasm|cytoskeleton cytoskeletal adaptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 9 Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143) BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) ACTCACTGCTGAAGTTTTCCA 0.547000 10 44 0 0 0.008291 0 0 SYDE1 85360 broad.mit.edu 37 19 15222217 15222217 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:15222217G>A ENST00000600252.1 + 2 1997 c.355G>A c.(355-357)Gag>Aag p.E119K SYDE1_ENST00000600440.1_Missense_Mutation_p.E395K|SYDE1_ENST00000342784.2_Missense_Mutation_p.E462K Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 462 Pro-rich. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1) 17 CTGCCTATCTGAGGACCTGTA 0.592000 4 56 0 0 0.009096 0 0 NACC1 112939 broad.mit.edu 37 19 13247207 13247207 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:13247207G>C ENST00000292431.4 + 3 1234 c.1108G>C c.(1108-1110)Gag>Cag p.E370Q NM_052876.3 NP_443108.1 Q96RE7 NACC1_HUMAN nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 370 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 TGAGAAGCTGGAGCTGGTGAC 0.662000 12 46 0 0 0.002450 0 0 MED16 10025 broad.mit.edu 37 19 873569 873569 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:873569G>C ENST00000312090.6 - 11 1935 c.1785C>G c.(1783-1785)gtC>gtG p.V595V MED16_ENST00000589119.1_Silent_p.V595V|MED16_ENST00000269814.4_Silent_p.V595V|MED16_ENST00000395808.3_Silent_p.V595V|MED16_ENST00000606828.1_5'UTR|MED16_ENST00000325464.1_Silent_p.V595V Q9Y2X0 MED16_HUMAN mediator complex subunit 16 595 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTTGATCATGACCTTGTCAA 0.572000 21 33 0 0 0.008871 0 0 IGF1R 3480 broad.mit.edu 37 15 99459287 99459287 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:99459287G>C ENST00000268035.6 + 9 2534 c.1923G>C c.(1921-1923)ctG>ctC p.L641L IGF1R_ENST00000558762.1_Silent_p.L641L NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 641 Fibronectin type-III 2. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ACGGCAACCTGAGTTACTACA 0.557000 33 105 0 0 0.002836 0 0 SMIM21 284274 broad.mit.edu 37 18 73122767 73122767 + Nonsense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr18:73122767G>C ENST00000382638.3 - 2 297 c.227C>G c.(226-228)tCa>tGa p.S76* RP11-321M21.3_ENST00000578340.1_Intron|RP11-321M21.3_ENST00000579386.1_Intron|SMIM21_ENST00000579022.1_3'UTR small integral membrane protein 21 TTTTCATCTTGAGCAGGGGAA 0.398000 4 15 0 0 0.009096 0 0 TOPORS 10210 broad.mit.edu 37 9 32542604 32542604 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:32542604C>T ENST00000360538.2 - 3 2035 c.1919G>A c.(1918-1920)aGa>aAa p.R640K TOPORS_ENST00000379858.1_Missense_Mutation_p.R575K NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 640 Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TTTGTCTCTTCTCCCTCTAGG 0.423000 80 236 0 0 0.003610 0 0 TBC1D31 93594 broad.mit.edu 37 8 124138784 124138784 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:124138784G>C ENST00000287380.1 + 13 1831 c.1741G>C c.(1741-1743)Gaa>Caa p.E581Q TBC1D31_ENST00000522420.1_Missense_Mutation_p.E476Q|TBC1D31_ENST00000521676.1_Missense_Mutation_p.E458Q|TBC1D31_ENST00000378080.2_Missense_Mutation_p.E476Q|TBC1D31_ENST00000327098.5_Missense_Mutation_p.E581Q|TBC1D31_ENST00000518805.1_Missense_Mutation_p.E214Q|TBC1D31_ENST00000309336.3_Missense_Mutation_p.E581Q NM_145647.3 NP_663622.2 TBC1 domain family, member 31 TGTGTTCTCAGAAGTGCTGAC 0.368000 14 28 0 0 0.002450 0 0 ESR2 2100 broad.mit.edu 37 14 64746790 64746790 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:64746790G>A ENST00000557772.1 - 2 443 c.444C>T c.(442-444)ttC>ttT p.F148F ESR2_ENST00000357782.2_Silent_p.F148F|ESR2_ENST00000353772.3_Silent_p.F148F|ESR2_ENST00000341099.4_Silent_p.F148F|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000555278.1_Silent_p.F148F|ESR2_ENST00000267525.6_Silent_p.F148F|ESR2_ENST00000554572.1_Silent_p.F148F|ESR2_ENST00000553796.1_Silent_p.F148F|ESR2_ENST00000542956.1_Silent_p.F148F|ESR2_ENST00000358599.5_Silent_p.F148F NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 148 Modulating. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) AGACAGCGCAGAAGTGAGCAT 0.478000 39 190 0 0 0.006230 0 0 ZNF546 339327 broad.mit.edu 37 19 40519724 40519724 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:40519724G>C ENST00000347077.4 + 7 763 c.547G>C c.(547-549)Gag>Cag p.E183Q ZNF546_ENST00000600094.1_Missense_Mutation_p.E157Q|ZNF546_ENST00000596894.1_Intron NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ACATGAATTTGAGAGACAAGA 0.358000 22 32 0 0 0.002299 0 0 CDKN1B 1027 broad.mit.edu 37 12 12874066 12874066 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:12874066C>A ENST00000396340.1 + 2 561 c.543C>A c.(541-543)ttC>ttA p.F181L CDKN1B_ENST00000477087.1_3'UTR|CDKN1B_ENST00000228872.4_3'UTR P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) 0 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) TCGCTGACTTCATGGAATGGA 0.328000 6 20 0.00116845 0.00120157 0.001168 1 0 MALAT1 378938 broad.mit.edu 37 11 65272327 65272327 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65272327G>A ENST00000534336.1 + 0 7095 NR_002819.2 AAGGGCCAGAGAAGCCAGACC 0.413000 12 31 0 0 0.002450 0 0 OCLM 10896 broad.mit.edu 37 1 186370311 186370311 + Nonstop_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:186370311G>C ENST00000574641.1 + 1 608 c.134G>C c.(133-135)tGa>tCa p.*45S C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000287859.6_Intron NM_022375.3 NP_071770.1 Q9Y5M6 TISR_HUMAN oculomedin 0 visual perception TTAGTACTTTGAAATTTTTGC 0.289000 8 21 0 0 0.003080 0 0 PTCH2 8643 broad.mit.edu 37 1 45295679 45295679 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:45295679C>G ENST00000447098.2 - 7 848 c.837G>C c.(835-837)ctG>ctC p.L279L PTCH2_ENST00000372192.3_Silent_p.L279L NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 279 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) AGCCCCCACTCAGCTCGTGAG 0.607000 Basal Cell Nevus syndrome 10 42 0 0 0.008291 0 0 TANC1 85461 broad.mit.edu 37 2 160087378 160087378 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:160087378C>T ENST00000263635.6 + 27 5678 c.5441C>T c.(5440-5442)tCt>tTt p.S1814F TANC1_ENST00000454300.1_Missense_Mutation_p.S1708F NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1814 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CCAGTCCACTCTCAAGAGAAC 0.463000 8 43 0 0 0.006214 0 0 TGFBR2 7048 broad.mit.edu 37 3 30691947 30691947 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:30691947C>G ENST00000295754.5 + 3 831 c.449C>G c.(448-450)tCa>tGa p.S150* TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S175* NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 150 activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 ATCATCTTCTCAGAAGGTGAG 0.433000 17 42 0 0 0.004990 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17699613 17699613 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:17699613C>T ENST00000399080.2 - 1 93 c.70G>A c.(70-72)Gag>Aag p.E24K NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 24 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TCCGGGTCCTCAGGAGGCGTT 0.602000 40 109 0 0 0.004878 0 0 ANKRD17 26057 broad.mit.edu 37 4 73957704 73957704 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:73957704G>A ENST00000358602.4 - 29 5757 c.5641C>T c.(5641-5643)Ctt>Ttt p.L1881F ANKRD17_ENST00000330838.6_Missense_Mutation_p.L1630F|ANKRD17_ENST00000509867.2_Missense_Mutation_p.L1768F NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1881 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCTAATGGAAGAGAAACTGGA 0.483000 21 116 0 0 0.008871 0 0 TSPYL5 85453 broad.mit.edu 37 8 98289207 98289207 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:98289207C>G ENST00000322128.3 - 1 969 c.866G>C c.(865-867)aGa>aCa p.R289T NM_033512.2 NP_277047.2 Q86VY4 TSYL5_HUMAN TSPY-like 5 289 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 20 Breast(36;2.56e-06) GTAGCCCAATCTGGCAAGGCC 0.473000 27 69 0 0 0.004656 0 0 DMD 1756 broad.mit.edu 37 X 32398771 32398771 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:32398771C>A ENST00000357033.4 - 34 4907 c.4701G>T c.(4699-4701)gaG>gaT p.E1567D DMD_ENST00000378677.2_Missense_Mutation_p.E1563D NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1567 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCAAGCATTTCTCCAACTGTT 0.338000 23 17 1.28384e-07 1.35516e-07 0.012319 1 0 FUBP3 8939 broad.mit.edu 37 9 133507625 133507625 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:133507625C>A ENST00000319725.9 + 16 1545 c.1470C>A c.(1468-1470)agC>agA p.S490R NM_003934.1 NP_003925.1 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 490 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) GCTGGGGCAGCACCTACCAGG 0.622000 12 32 4.3838e-07 4.60906e-07 0.001855 1 0 AKAP3 10566 broad.mit.edu 37 12 4736776 4736776 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:4736776C>G ENST00000545990.2 - 5 1816 c.1292G>C c.(1291-1293)aGa>aCa p.R431T AKAP3_ENST00000228850.1_Missense_Mutation_p.R431T NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 431 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 CATTTTTTCTCTCAATTTAGT 0.408000 21 108 0 0 0.008871 0 0 VPS13C 54832 broad.mit.edu 37 15 62228879 62228879 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:62228879G>A ENST00000261517.5 - 48 5745 c.5672C>T c.(5671-5673)tCa>tTa p.S1891L VPS13C_ENST00000395898.3_Missense_Mutation_p.S1848L|VPS13C_ENST00000249837.3_Missense_Mutation_p.S1848L|VPS13C_ENST00000395896.4_Missense_Mutation_p.S1891L NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1891 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GCTTGGTTGTGAGGAAGCTTC 0.373000 8 18 0 0 0.003080 0 0 CERS3 204219 broad.mit.edu 37 15 100943007 100943007 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:100943007C>G ENST00000284382.4 - 13 1486 c.1063G>C c.(1063-1065)Gag>Cag p.E355Q CERS3_ENST00000538112.2_Missense_Mutation_p.E355Q|RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000394113.1_Missense_Mutation_p.E355Q|RP11-168G16.2_ENST00000560643.1_RNA|CERS3_ENST00000560944.1_5'UTR NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 355 Poly-Glu. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TTGGTAGcctcttcttcttcc 0.483000 7 23 0 0 0.003080 0 0 PRND 23627 broad.mit.edu 37 20 4705248 4705248 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:4705248C>G ENST00000305817.2 + 2 122 c.51C>G c.(49-51)ctC>ctG p.L17L NM_012409.2 NP_036541.2 Q9UKY0 PRND_HUMAN prion protein 2 (dublet) 17 protein homooligomerization anchored to membrane|plasma membrane breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 13 GCATGCTGCTCTTCAGCCACC 0.632000 23 64 0 0 0.002299 0 0 ZNF385B 151126 broad.mit.edu 37 2 180634445 180634445 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:180634445T>C ENST00000410066.1 - 3 641 c.38A>G c.(37-39)aAg>aGg p.K13R NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 13 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) CTTTATCCCCTTTTCTTCAAA 0.423000 3 87 0 0 0.004672 0 0 BMPR2 659 broad.mit.edu 37 2 203395617 203395617 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:203395617G>A ENST00000374580.4 + 8 1607 c.1068G>A c.(1066-1068)atG>atA p.M356I BMPR2_ENST00000374574.2_Missense_Mutation_p.M356I NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 356 Protein kinase. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 GACTGTCCATGAGGCTGACTG 0.418000 9 23 0 0 0.008291 0 0 CCDC80 151887 broad.mit.edu 37 3 112358405 112358405 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:112358405C>T ENST00000206423.3 - 2 1301 c.348G>A c.(346-348)gaG>gaA p.E116E CCDC80_ENST00000439685.2_Silent_p.E116E|CCDC80_ENST00000475181.1_5'UTR NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 116 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 CTCTGATCATCTCACGCGGAG 0.602000 27 108 0 0 0.008361 0 0 FAM151A 338094 broad.mit.edu 37 1 55081832 55081832 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:55081832G>T ENST00000302250.2 - 3 436 c.276C>A c.(274-276)gtC>gtA p.V92V ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Silent_p.V92V NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 92 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CAGCCTCCAGGACTGTGATGT 0.453000 29 69 1.74807e-11 1.88e-11 0.010818 1 0 SVIL 6840 broad.mit.edu 37 10 29821937 29821937 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr10:29821937C>A ENST00000375398.2 - 10 1808 c.1359G>T c.(1357-1359)aaG>aaT p.K453N SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.K453N O95425 SVIL_HUMAN supervillin 453 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) GTAGGGTTTTCTTGCTTTGCT 0.483000 25 38 0.00106085 0.00109233 0.006320 1 0 TRIP11 9321 broad.mit.edu 37 14 92469811 92469811 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92469811C>T ENST00000267622.4 - 11 4882 c.4509G>A c.(4507-4509)atG>atA p.M1503I NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1503 M -> V (in dbSNP:rs34839498). transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CCTTCTCCTTCATTGAGTGGC 0.413000 T PDGFRB AML 15 64 0 0 0.003163 0 0 SDK1 221935 broad.mit.edu 37 7 4213926 4213926 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:4213926G>T ENST00000404826.2 + 33 5012 c.4873G>T c.(4873-4875)Gcc>Tcc p.A1625S SDK1_ENST00000389531.3_Missense_Mutation_p.A1625S NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1625 Fibronectin type-III 10. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGAGTATGAAGCCGGGTCAGG 0.552000 42 256 1.38658e-30 1.53893e-30 0.003610 1 0 GPR179 440435 broad.mit.edu 37 17 36499096 36499096 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:36499096C>T ENST00000342292.4 - 1 597 c.577G>A c.(577-579)Gac>Aac p.D193N NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 193 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GCAGGGGTGTCCAGGTCCCCA 0.637000 18 77 0 0 0.006122 0 0 LYPLAL1 127018 broad.mit.edu 37 1 219384873 219384873 + Nonsense_Mutation SNP C C T rs140122550 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:219384873C>T ENST00000366928.5 + 5 564 c.517C>T c.(517-519)Cag>Tag p.Q173* LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.Q157*|LYPLAL1_ENST00000483635.1_3'UTR NM_138794.3 NP_620149.1 Q5VWZ2 LYPL1_HUMAN lysophospholipase-like 1 173 cytoplasm lysophospholipase activity large_intestine(1)|lung(5) 6 GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116) TGAATTATTTCAGTGTCATGG 0.353000 29 104 0 0 0.007291 0 0 MALAT1 378938 broad.mit.edu 37 11 65272949 65272949 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65272949G>A ENST00000534336.1 + 0 7717 NR_002819.2 GGGAAAGGGGGAAAGCGGGCA 0.488000 19 87 0 0 0.010504 0 0 VSTM2L 128434 broad.mit.edu 37 20 36572481 36572481 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:36572481C>T ENST00000373459.4 + 2 460 c.220C>T c.(220-222)Cag>Tag p.Q74* VSTM2L_ENST00000373461.4_Silent_p.F147F|VSTM2L_ENST00000373458.3_Silent_p.F130F Q96N03 VTM2L_HUMAN V-set and transmembrane domain containing 2 like 0 Ig-like. central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.00878) TCATCGACTTCAGCGACGGCA 0.672000 8 20 0 0 0.004482 0 0 SSFA2 6744 broad.mit.edu 37 2 182763789 182763789 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:182763789G>A ENST00000431877.2 + 6 632 c.453G>A c.(451-453)ggG>ggA p.G151G SSFA2_ENST00000320370.7_Silent_p.G151G|SSFA2_ENST00000409001.1_Silent_p.G151G|SSFA2_ENST00000428267.2_5'UTR NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 151 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) ATCAGAAAGGGAGAAGTATGA 0.323000 5 27 0 0 0.001168 0 0 GATA6 2627 broad.mit.edu 37 18 19761413 19761413 + Splice_Site SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr18:19761413G>A ENST00000269216.3 + 4 1579 c.e4-1 GATA6_ENST00000581694.1_Splice_Site NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) ACTGTTTCTAGCCTTCATCAC 0.418000 11 44 0 0 0.010729 0 0 ALPK3 57538 broad.mit.edu 37 15 85370749 85370749 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:85370749G>C ENST00000258888.5 + 3 990 c.823G>C c.(823-825)Gag>Cag p.E275Q NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 275 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCAGCTCACAGAGGAGACCCA 0.562000 6 46 0 0 0.001168 0 0 TICRR 90381 broad.mit.edu 37 15 90144539 90144539 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:90144539C>G ENST00000268138.7 + 10 2269 c.2164C>G c.(2164-2166)Cag>Gag p.Q722E TICRR_ENST00000560985.1_Missense_Mutation_p.Q721E TOPBP1-interacting checkpoint and replication regulator GTGCCAGCTTCAGGTATTTCT 0.373000 6 34 0 0 0.001984 0 0 RNF169 254225 broad.mit.edu 37 11 74546869 74546869 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:74546869C>G ENST00000299563.4 + 6 1234 c.1221C>G c.(1219-1221)atC>atG p.I407M NM_001098638.1 NP_001092108.1 Q8NCN4 RN169_HUMAN ring finger protein 169 407 zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 15 CTCTCATCATCAAATCAACTC 0.493000 38 120 0 0 0.006230 0 0 YTHDC2 64848 broad.mit.edu 37 5 112889016 112889016 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:112889016C>T ENST00000161863.4 + 13 2040 c.1827C>T c.(1825-1827)atC>atT p.I609I YTHDC2_ENST00000515883.1_Silent_p.I609I NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 609 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TGGATTTGATCATGCATCTTC 0.343000 9 21 0 0 0.008291 0 0 TRIP11 9321 broad.mit.edu 37 14 92471131 92471131 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471131C>T ENST00000267622.4 - 11 3562 c.3189G>A c.(3187-3189)caG>caA p.Q1063Q NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1063 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CCAAATCTTTCTGCTGAATAA 0.343000 T PDGFRB AML 14 42 0 0 0.002450 0 0 OGFOD3 79701 broad.mit.edu 37 17 80352382 80352382 + Missense_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:80352382T>A ENST00000329197.5 - 9 951 c.861A>T c.(859-861)caA>caT p.Q287H OGFOD3_ENST00000313056.5_Intron 2-oxoglutarate and iron-dependent oxygenase domain containing 3 CATTAACTTCTTGGAACCCAC 0.582000 18 68 0 0 0.010504 0 0 SPOCK1 6695 broad.mit.edu 37 5 136315065 136315065 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:136315065C>T ENST00000394945.1 - 10 1254 c.1085G>A c.(1084-1086)gGg>gAg p.G362E SPOCK1_ENST00000282223.7_Missense_Mutation_p.G362E|SPOCK1_ENST00000509978.1_5'UTR NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 362 Thyroglobulin type-1. cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAACTCATTCCCATATTTGTC 0.587000 4 104 0 0 0.009096 0 0 WDR35 57539 broad.mit.edu 37 2 20130164 20130164 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:20130164C>T ENST00000345530.3 - 26 3262 c.3147G>A c.(3145-3147)ctG>ctA p.L1049L WDR35_ENST00000281405.4_Silent_p.L1038L|WDR35_ENST00000416055.2_Silent_p.L522L NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 1049 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACCTGTCTTCAGTGCAGTGT 0.438000 18 174 0 0 0.010818 0 0 LRRC41 10489 broad.mit.edu 37 1 46745255 46745255 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:46745255C>T ENST00000343304.6 - 8 2337 c.2052G>A c.(2050-2052)gaG>gaA p.E684E LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 684 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) CTGGGCGCTTCTCAAACAGAC 0.552000 45 132 0 0 0.011902 0 0 CEP250 11190 broad.mit.edu 37 20 34054793 34054793 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:34054793C>T ENST00000397527.1 + 8 1215 c.495C>T c.(493-495)ttC>ttT p.F165F CEP250_ENST00000397524.1_Silent_p.F165F|CEP250_ENST00000342580.4_Silent_p.F165F NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 165 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) ACACACAGTTCTTCAAGGGCT 0.522000 18 42 0 0 0.007413 0 0 ABCA2 20 broad.mit.edu 37 9 139910481 139910481 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:139910481C>T ENST00000265662.5 - 22 3397 c.3250G>A c.(3250-3252)Gaa>Aaa p.E1084K ABCA2_ENST00000371605.3_Missense_Mutation_p.E1083K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E1084K Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1083 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CAGAGGTGTTCCTCCACCGTG 0.622000 23 35 0 0 0.002299 0 0 DGKB 1607 broad.mit.edu 37 7 14613864 14613864 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:14613864G>A ENST00000403951.2 - 20 2165 c.1746C>T c.(1744-1746)atC>atT p.I582I DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Silent_p.I574I|DGKB_ENST00000444700.2_Silent_p.I563I|DGKB_ENST00000258767.5_Silent_p.I582I|DGKB_ENST00000399322.3_Silent_p.I582I|DGKB_ENST00000406247.3_Silent_p.I582I|DGKB_ENST00000402815.1_Silent_p.I581I Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 582 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) AATTATTGATGATACTGTAAG 0.358000 4 160 0 0 0.001168 0 0 OR5H15 403274 broad.mit.edu 37 3 97887885 97887885 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:97887885C>G ENST00000356526.2 + 1 342 c.342C>G c.(340-342)ctC>ctG p.L114L NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 AATGTTTTCTCTTGGCAACAA 0.378000 35 122 0 0 0.002836 0 0 ITPR3 3710 broad.mit.edu 37 6 33656530 33656530 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:33656530C>G ENST00000374316.5 + 50 7726 c.6666C>G c.(6664-6666)ttC>ttG p.F2222L ITPR3_ENST00000605930.1_Missense_Mutation_p.F2222L Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 2222 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 TTGCCTTCTTCTACCCTTACA 0.612000 18 68 0 0 0.006122 0 0 TRIP11 9321 broad.mit.edu 37 14 92488028 92488028 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92488028G>A ENST00000267622.4 - 4 833 c.460C>T c.(460-462)Cct>Tct p.P154S NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 154 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) AAAGCTGAAGGATGATGACTA 0.433000 T PDGFRB AML 11 44 0 0 0.008291 0 0 SLC9A7 84679 broad.mit.edu 37 X 46472745 46472745 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:46472745C>G ENST00000328306.4 - 16 1930 c.1905G>C c.(1903-1905)ctG>ctC p.L635L SLC9A7_ENST00000464933.1_5'UTR NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 635 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 GGGGACTGGTCAGACATCGAG 0.512000 19 27 0 0 0.010504 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122958596 122958596 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:122958596C>T ENST00000543897.1 - 12 3213 c.858G>A c.(856-858)caG>caA p.Q286Q ZCCHC8_ENST00000538116.1_Silent_p.Q135Q|ZCCHC8_ENST00000536306.1_Silent_p.Q286Q|ZCCHC8_ENST00000336229.4_Silent_p.Q524Q Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 524 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) AGATCCGCCTCTGCTGTTCTT 0.572000 51 107 0 0 0.003610 0 0 MALAT1 378938 broad.mit.edu 37 11 65273364 65273364 + RNA SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65273364G>C ENST00000534336.1 + 0 8132 NR_002819.2 ATAGGCATTTGAGTGGCTGAG 0.423000 20 65 0 0 0.012319 0 0 APOB 338 broad.mit.edu 37 2 21238409 21238409 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:21238409G>A ENST00000233242.1 - 22 3468 c.3341C>T c.(3340-3342)aCa>aTa p.T1114I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1114 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCTTCCTTTGTGTCACAACT 0.423000 6 33 0 0 0.003080 0 0 SNRPA 6626 broad.mit.edu 37 19 41257373 41257373 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:41257373G>C ENST00000243563.3 + 1 610 c.60G>C c.(58-60)aaG>aaC p.K20N SNRPA_ENST00000599570.1_3'UTR NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 20 RRM 1. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TCAATGAGAAGATCAAGAAGG 0.522000 47 91 0 0 0.013114 0 0 TNFRSF10B 8795 broad.mit.edu 37 8 22886091 22886091 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:22886091G>T ENST00000276431.4 - 5 785 c.501C>A c.(499-501)gtC>gtA p.V167V TNFRSF10B_ENST00000347739.3_Silent_p.V167V|TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_Silent_p.V16V NM_003842.4|NM_147187.2 NP_003833.4|NP_671716.2 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, member 10b 167 activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane caspase activator activity|receptor activity|TRAIL binding NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) TACAATCACCGACCTTGACCA 0.562000 32 96 9.78485e-24 1.08298e-23 0.002836 1 0 C16orf72 29035 broad.mit.edu 37 16 9210767 9210767 + Nonstop_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:9210767T>A ENST00000327827.7 + 4 1223 c.826T>A c.(826-828)Taa>Aaa p.*276K NM_014117.2 NP_054836.2 Q14CZ0 CP072_HUMAN chromosome 16 open reading frame 72 0 endometrium(4)|large_intestine(2)|lung(2) 8 CAGAATGATCTAAACTGCAAA 0.453000 14 84 0 0 0.004007 0 0 CXCR2 3579 broad.mit.edu 37 2 219000410 219000410 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:219000410C>T ENST00000318507.2 + 3 1313 c.886C>T c.(886-888)Ctg>Ttg p.L296L NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 296 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 CGACCGGGCTCTGGATGCCAC 0.587000 34 74 0 0 0.010818 0 0 ALPK3 57538 broad.mit.edu 37 15 85405874 85405874 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:85405874G>A ENST00000258888.5 + 10 4911 c.4744G>A c.(4744-4746)Gag>Aag p.E1582K NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1582 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGTTGGAGAAGAGATTGAGAT 0.572000 19 58 0 0 0.010504 0 0 CACNA1F 778 broad.mit.edu 37 X 49076130 49076130 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:49076130C>T ENST00000376265.2 - 20 2600 c.2539G>A c.(2539-2541)Gag>Aag p.E847K CACNA1F_ENST00000376251.1_Missense_Mutation_p.E782K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E836K NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 847 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) GCGCTGCCCTCAGGGATGGGT 0.607000 3 3 0 0 0.009096 0 0 RUNX1 861 broad.mit.edu 37 21 36171624 36171624 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:36171624G>A ENST00000344691.4 - 5 2437 c.860C>T c.(859-861)tCt>tTt p.S287F RUNX1_ENST00000325074.5_Missense_Mutation_p.S302F|RUNX1_ENST00000300305.3_Missense_Mutation_p.S314F|RUNX1_ENST00000437180.1_Missense_Mutation_p.S314F|RUNX1_ENST00000399240.1_Missense_Mutation_p.S223F NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 287 Pro/Ser/Thr-rich. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.S314fs*168(1) breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 AAGTTCTGCAGAGAGGGTTGT 0.532000 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 6 97 0 0 0.001984 0 0 KIAA1429 25962 broad.mit.edu 37 8 95508622 95508622 + Silent SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:95508622T>C ENST00000297591.5 - 18 4392 c.4317A>G c.(4315-4317)aaA>aaG p.K1439K KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1439 mRNA processing|RNA splicing nucleus p.K1439fs*18(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GTAGAAGCTGTTTTAACTCTG 0.393000 17 35 0 0 0.004990 0 0 SMC4 10051 broad.mit.edu 37 3 160137327 160137327 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:160137327G>T ENST00000357388.3 + 12 2304 c.1853G>T c.(1852-1854)aGa>aTa p.R618I SMC4_ENST00000360111.2_Missense_Mutation_p.R618I|SMC4_ENST00000344722.5_Missense_Mutation_p.R618I|SMC4_ENST00000462787.1_Missense_Mutation_p.R618I|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.R593I NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 618 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ATATATGGAAGATTGGTAAAG 0.353000 7 65 8.12818e-05 8.40193e-05 0.001984 1 0 EGFR 1956 broad.mit.edu 37 7 55224337 55224337 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:55224337C>A ENST00000275493.2 + 9 1295 c.1118C>A c.(1117-1119)cCg>cAg p.P373Q EGFR_ENST00000454757.2_Missense_Mutation_p.P320Q|EGFR_ENST00000455089.1_Missense_Mutation_p.P328Q|EGFR_ENST00000420316.2_Missense_Mutation_p.P373Q|EGFR_ENST00000342916.3_Missense_Mutation_p.P373Q|EGFR_ENST00000344576.2_Missense_Mutation_p.P373Q|EGFR_ENST00000442591.1_Missense_Mutation_p.P373Q NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 373 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CACATCCTGCCGGTGGCATTT 0.403000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 13 57 1.3612e-06 1.42739e-06 0.003163 1 0 PGBD1 84547 broad.mit.edu 37 6 28251866 28251866 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:28251866C>G ENST00000405948.2 + 2 696 c.276C>G c.(274-276)ttC>ttG p.F92L PGBD1_ENST00000259883.3_Missense_Mutation_p.F92L NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 92 SCAN box. viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 TGGAGCAGTTCCTGACCATCC 0.537000 26 74 0 0 0.003954 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681333 44681333 + Missense_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:44681333T>A ENST00000381176.4 - 4 706 c.574A>T c.(574-576)Atg>Ttg p.M192L NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 192 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) TGGAAGGTCATCAGCGGTGGG 0.607000 19 71 0 0 0.002299 0 0 PSMG1 8624 broad.mit.edu 37 21 40549373 40549373 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:40549373C>G ENST00000331573.3 - 6 1245 c.780G>C c.(778-780)aaG>aaC p.K260N PSMG1_ENST00000380900.2_Missense_Mutation_p.K239N NM_001261824.1|NM_003720.3 NP_001248753.1|NP_003711.1 O95456 PSMG1_HUMAN proteasome (prosome, macropain) assembly chaperone 1 260 proteasome assembly endoplasmic reticulum protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 8 Prostate(19;8.44e-08) TAACCAAACCCTTCAAGCTTC 0.323000 8 21 0 0 0.003080 0 0 FASN 2194 broad.mit.edu 37 17 80044282 80044282 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:80044282G>C ENST00000306749.2 - 22 3798 c.3580C>G c.(3580-3582)Ctg>Gtg p.L1194V NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1194 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) TCCAGCTGCAGGTTCCCGTTG 0.697000 12 27 0 0 0.001855 0 0 DNAH10 196385 broad.mit.edu 37 12 124298073 124298073 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:124298073C>G ENST00000409039.3 + 19 3178 c.3153C>G c.(3151-3153)ctC>ctG p.L1051L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1051 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GACTTCAGCTCAGGCATCTGG 0.438000 11 36 0 0 0.008291 0 0 NUP155 9631 broad.mit.edu 37 5 37307413 37307413 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:37307413C>G ENST00000231498.3 - 25 3092 c.2889G>C c.(2887-2889)caG>caC p.Q963H NUP155_ENST00000513532.1_Missense_Mutation_p.Q899H|NUP155_ENST00000381843.2_Missense_Mutation_p.Q904H|NUP155_ENST00000502533.1_5'UTR NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 963 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTGGAAGGCCTGAAGTCCAA 0.368000 12 65 0 0 0.001368 0 0 MAP1B 4131 broad.mit.edu 37 5 71494026 71494026 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:71494026G>C ENST00000296755.7 + 5 5142 c.4844G>C c.(4843-4845)aGa>aCa p.R1615T NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1615 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GAATGCCCAAGACCGATGTCA 0.438000 9 107 0 0 0.006214 0 0 AKR7L 246181 broad.mit.edu 37 1 19597298 19597298 + RNA SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:19597298C>T ENST00000420396.2 - 0 345 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 GCGCTGTGGTCAGGTGCATGT 0.622000 11 31 0 0 0.008291 0 0 C11orf84 144097 broad.mit.edu 37 11 63581231 63581231 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:63581231G>A ENST00000294244.4 + 1 372 c.73G>A c.(73-75)Gag>Aag p.E25K NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 25 endometrium(3)|kidney(1)|lung(3)|skin(1) 8 AGGGGAGGACGAGGAGGAGGC 0.677000 9 29 0 0 0.004482 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625408 140625408 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:140625408G>A ENST00000231173.3 + 1 262 c.262G>A c.(262-264)Gag>Aag p.E88K NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 88 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATATTAAATGAGAAGCTGGA 0.512000 5 68 0 0 0.001168 0 0 NACA 4666 broad.mit.edu 37 12 57111479 57111479 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57111479C>G ENST00000454682.1 - 3 4116 c.3835G>C c.(3835-3837)Gct>Cct p.A1279P NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GGTGGGGTAGCTAGACCTCCT 0.647000 T BCL6 NHL 27 76 0 0 0.005443 0 0 ZFP2 80108 broad.mit.edu 37 5 178358777 178358777 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:178358777G>C ENST00000361362.2 + 5 993 c.463G>C c.(463-465)Gag>Cag p.E155Q ZFP2_ENST00000503510.2_Missense_Mutation_p.E155Q|ZFP2_ENST00000523286.1_Missense_Mutation_p.E155Q|ZFP2_ENST00000520301.1_Missense_Mutation_p.E155Q NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TCATACTGGAGAGAAACCCTA 0.413000 17 52 0 0 0.007413 0 0 PRRT1 80863 broad.mit.edu 37 6 32118683 32118683 + Splice_Site SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:32118683C>T ENST00000211413.5 - 2 144 c.19_splice c.e2-1 p.G7_splice PRRT1_ENST00000375152.2_Intron|PRRT1_ENST00000375150.2_Intron NM_030651.3 NP_085154.3 Q99946 PRRT1_HUMAN proline-rich transmembrane protein 1 7 response to biotic stimulus integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(2) 6 GTCTGGGAGTCCTGGGGGAGG 0.607000 5 11 0 0 0.000602 0 0 BTBD6 90135 broad.mit.edu 37 14 105716079 105716079 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:105716079C>T ENST00000463376.2 + 3 844 c.303C>T c.(301-303)gtC>gtT p.V101V BRF1_ENST00000440513.3_Intron|BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000392554.3_Silent_p.V176V|BTBD6_ENST00000536364.1_Silent_p.V176V|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Silent_p.V101V|BRF1_ENST00000327359.3_Intron Q96KE9 BTBD6_HUMAN BTB (POZ) domain containing 6 176 BTB. cytoplasmic mRNA processing body endometrium(1)|lung(3) 4 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) AAGCCTGTGTCAACTTTCTGG 0.567000 6 62 0 0 0.001168 0 0 SLC35D3 340146 broad.mit.edu 37 6 137243566 137243566 + Translation_Start_Site SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:137243566G>A ENST00000331858.4 + 0 165 NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) AGGCCGGCGCGATGCGGCAGC 0.746000 4 9 0 0 0.000602 0 0 ZZEF1 23140 broad.mit.edu 37 17 4009037 4009037 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:4009037G>C ENST00000381638.2 - 7 1468 c.1344C>G c.(1342-1344)ctC>ctG p.L448L ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 448 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CATTAGGGGAGAGGAAAGTTG 0.453000 15 40 0 0 0.004990 0 0 SLC6A14 11254 broad.mit.edu 37 X 115585606 115585606 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:115585606C>T ENST00000371900.4 + 10 1490 c.1402C>T c.(1402-1404)Cag>Tag p.Q468* NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 468 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) CTGTGTGACTCAGGTATACTA 0.358000 17 21 0 0 0.006122 0 0 RSG1 79363 broad.mit.edu 37 1 16563180 16563180 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:16563180C>T ENST00000375599.3 - 1 477 c.58G>A c.(58-60)Gag>Aag p.E20K NM_030907.3 NP_112169.2 Q9BU20 RSG1_HUMAN REM2 and RAB-like small GTPase 1 20 cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction cilium|microtubule basal body GTP binding large_intestine(2)|lung(2)|pancreas(1)|prostate(1) 6 TCCTTGCCCTCGGCACTCTCG 0.632000 3 5 0 0 0.004672 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89416899 89416899 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:89416899G>A ENST00000490686.1 - 0 311 TGCTGATTGTGAGAGTGAATT 0.498000 12 167 0 0 0.001855 0 0 XAF1 54739 broad.mit.edu 37 17 6665494 6665494 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:6665494G>A ENST00000361842.3 + 5 681 c.442G>A c.(442-444)Gaa>Aaa p.E148K XAF1_ENST00000441631.1_Missense_Mutation_p.E148K|XAF1_ENST00000346752.4_Missense_Mutation_p.E129K NM_017523.3 NP_059993.2 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 148 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 6 TTCAGCTCCTGAAAGGGAAAT 0.408000 12 19 0 0 0.010729 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457692 15457692 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:15457692G>T ENST00000360151.4 - 8 876 c.877C>A c.(877-879)Ctt>Att p.L293I NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGGGTGGAAGGGGAGTGAGC 0.582000 7 63 9.70103e-10 1.03633e-09 0.008291 1 0 ATPAF2 91647 broad.mit.edu 37 17 17921887 17921887 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:17921887G>C ENST00000474627.3 - 8 1000 c.846C>G c.(844-846)gtC>gtG p.V282V ATPAF2_ENST00000585101.1_Intron NM_145691.3 NP_663729.1 Q8N5M1 ATPF2_HUMAN ATP synthase mitochondrial F1 complex assembly factor 2 282 proton-transporting ATP synthase complex assembly mitochondrion|nuclear speck protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 8 all_neural(463;0.228) GCTTGTGCTTGACTGTGGTGC 0.642000 25 74 0 0 0.004656 0 0 GRHL1 29841 broad.mit.edu 37 2 10132193 10132193 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:10132193C>G ENST00000324907.9 + 11 1516 c.1380C>G c.(1378-1380)ttC>ttG p.F460L GRHL1_ENST00000405379.2_Missense_Mutation_p.F460L|GRHL1_ENST00000324883.5_Missense_Mutation_p.F271L NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 460 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TCACAGTTTTCAAACCCTTCA 0.433000 4 26 0 0 0.009096 0 0 NT5C3A 51251 broad.mit.edu 37 7 33060909 33060909 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:33060909C>G ENST00000396152.2 - 6 615 c.313G>C c.(313-315)Gag>Cag p.E105Q AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000242210.7_Missense_Mutation_p.E144Q|NT5C3A_ENST00000381626.2_Missense_Mutation_p.E93Q|NT5C3A_ENST00000405342.1_Missense_Mutation_p.E105Q|NT5C3A_ENST00000409787.1_Missense_Mutation_p.E105Q|NT5C3A_ENST00000409467.1_Missense_Mutation_p.E93Q NM_016489.12 NP_057573.2 5'-nucleotidase, cytosolic IIIA GGGTACTTCTCTTCTACAGTA 0.313000 19 68 0 0 0.007413 0 0 HRC 3270 broad.mit.edu 37 19 49657579 49657579 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:49657579C>G ENST00000252825.4 - 1 1102 c.916G>C c.(916-918)Gat>Cat p.D306H HRC_ENST00000595625.1_Missense_Mutation_p.D306H NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 306 4 X tandem repeats, acidic.|6 X approximate tandem repeats. muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) TCATCATCATCATTGTCATCT 0.532000 17 55 0 0 0.004990 0 0 ARMC2 84071 broad.mit.edu 37 6 109285456 109285456 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:109285456C>T ENST00000392644.4 + 16 2394 c.2226C>T c.(2224-2226)ctC>ctT p.L742L ARMC2_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Silent_p.L577L NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 742 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) GTGTTCTCCTCAATCTCACTG 0.473000 9 25 0 0 0.006214 0 0 EPYC 1833 broad.mit.edu 37 12 91358091 91358091 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:91358091G>A ENST00000261172.3 - 7 903 c.811C>T c.(811-813)Ctg>Ttg p.L271L NM_004950.4 NP_004941.2 Q99645 EPYC_HUMAN epiphycan 271 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2) 18 TGCATTTCCAGAATGTTGTTA 0.338000 5 22 0 0 0.000602 0 0 INPP5D 3635 broad.mit.edu 37 2 234091127 234091127 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:234091127C>A ENST00000359570.5 + 21 2107 c.2107C>A c.(2107-2109)Cag>Aag p.Q703K INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000455936.2_Missense_Mutation_p.Q467K|INPP5D_ENST00000450745.1_Missense_Mutation_p.Q467K Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 715 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) AGTCACTTCCCAGTTTGTCTC 0.507000 18 65 1.33834e-09 1.42589e-09 0.007413 1 0 GALNT10 55568 broad.mit.edu 37 5 153760021 153760021 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:153760021G>A ENST00000297107.6 + 6 905 c.768G>A c.(766-768)cgG>cgA p.R256R GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Silent_p.R194R|GALNT10_ENST00000425427.2_Silent_p.R256R|SAP30L-AS1_ENST00000519727.1_RNA NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 256 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GCATTGCTCGGAACCGCAAGA 0.512000 43 126 0 0 0.009718 0 0 NUP37 79023 broad.mit.edu 37 12 102471251 102471251 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:102471251G>A ENST00000552283.1 - 7 710 c.571C>T c.(571-573)Cgg>Tgg p.R191W NUP37_ENST00000251074.1_Missense_Mutation_p.R191W Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 191 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding endometrium(3)|large_intestine(3)|lung(10)|ovary(1) 17 TCATAAAACCGGATTGTTCCA 0.368000 20 62 0 0 0.007413 0 0 UBQLN1 29979 broad.mit.edu 37 9 86276731 86276731 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:86276731C>T ENST00000376395.4 - 11 2264 c.1741G>A c.(1741-1743)Gaa>Aaa p.E581K UBQLN1_ENST00000257468.7_Missense_Mutation_p.E553K NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 581 UBA. apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 AGTAACCTTTCAATAGCTGCA 0.383000 24 69 0 0 0.003330 0 0 TRIP11 9321 broad.mit.edu 37 14 92470704 92470704 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92470704C>T ENST00000267622.4 - 11 3989 c.3616G>A c.(3616-3618)Gag>Aag p.E1206K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1206 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TGTAGAAGCTCCTCAAATTGA 0.398000 T PDGFRB AML 16 64 0 0 0.004990 0 0 DPYSL4 10570 broad.mit.edu 37 10 134012379 134012379 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr10:134012379G>A ENST00000338492.4 + 8 879 c.715G>A c.(715-717)Gct>Act p.A239T DPYSL4_ENST00000368627.1_Missense_Mutation_p.A139T|DPYSL4_ENST00000368629.1_Missense_Mutation_p.A139T NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 239 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GGTGTACCGAGCTGTCACCAT 0.657000 4 41 0 0 0.009096 0 0 CACNA2D1 781 broad.mit.edu 37 7 81662153 81662153 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:81662153C>T ENST00000356860.3 - 12 1441 c.1103G>A c.(1102-1104)aGa>aAa p.R368K CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R368K NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 368 VWFA. voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTCCTGGGCTCTCTCTTCTCC 0.279000 13 24 0 0 0.002450 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79973108 79973108 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:79973108C>G ENST00000306729.7 + 13 1608 c.1511C>G c.(1510-1512)tCt>tGt p.S504C ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Intron|ASPSCR1_ENST00000580534.1_Intron NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 500 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GGCCGAGCCTCTCCAAGCACT 0.632000 T TFE3 alveolar soft part sarcoma 20 79 0 0 0.010504 0 0 ANKZF1 55139 broad.mit.edu 37 2 220099962 220099962 + Missense_Mutation SNP A A T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:220099962A>T ENST00000323348.5 + 10 1793 c.1619A>T c.(1618-1620)cAt>cTt p.H540L ANKZF1_ENST00000409849.1_Missense_Mutation_p.H330L|ANKZF1_ENST00000410034.3_Missense_Mutation_p.H540L NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 540 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTCTCCTGCATGCAGCAGCT 0.587000 28 60 0 0 0.006320 0 0 EVPL 2125 broad.mit.edu 37 17 74018542 74018542 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:74018542C>T ENST00000301607.3 - 5 811 c.558G>A c.(556-558)caG>caA p.Q186Q EVPL_ENST00000586740.1_Silent_p.Q186Q NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 186 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CGATCTCCTTCTGCAGGATGT 0.672000 3 44 0 0 0.004672 0 0 DNAH17 8632 broad.mit.edu 37 17 76455098 76455098 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:76455098G>A ENST00000389840.5 - 61 9928 c.9804C>T c.(9802-9804)atC>atT p.I3268I DNAH17_ENST00000585328.1_Silent_p.I3277I|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCTTGTTTTTGATCCGGGACA 0.582000 21 61 0 0 0.010504 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938309 116938309 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:116938309G>A ENST00000229554.5 + 1 660 c.523G>A c.(523-525)Gag>Aag p.E175K RSPH4A_ENST00000368580.4_Missense_Mutation_p.E175K|RSPH4A_ENST00000368581.4_Missense_Mutation_p.E175K NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 175 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TAAACAGAAAGAGCTGAGATT 0.512000 Kartagener syndrome 33 116 0 0 0.003755 0 0 BDP1 55814 broad.mit.edu 37 5 70786860 70786860 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:70786860G>A ENST00000358731.4 + 11 1805 c.1542G>A c.(1540-1542)aaG>aaA p.K514K BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 514 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AATGCAGTAAGGAGCAGATGC 0.383000 7 34 0 0 0.001984 0 0 PCNT 5116 broad.mit.edu 37 21 47773920 47773920 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:47773920G>A ENST00000359568.5 + 11 1806 c.1699G>A c.(1699-1701)Gaa>Aaa p.E567K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 567 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TGTGGGTTTAGAAGAGAAACC 0.498000 3 14 0 0 0.004672 0 0 PCDH17 27253 broad.mit.edu 37 13 58208612 58208612 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:58208612G>T ENST00000377918.3 + 1 1958 c.1932G>T c.(1930-1932)gaG>gaT p.E644D NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 644 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCAGCGGCGAGATCCGCACGC 0.657000 43 122 2.13384e-23 2.35845e-23 0.003610 1 0 MDN1 23195 broad.mit.edu 37 6 90402813 90402813 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:90402813C>T ENST00000369393.3 - 63 10051 c.9936G>A c.(9934-9936)aaG>aaA p.K3312K MDN1_ENST00000428876.1_Silent_p.K3312K Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3312 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) AGGCCTGTTTCTTCAACAGGT 0.512000 14 35 0 0 0.004007 0 0 PDGFRL 5157 broad.mit.edu 37 8 17486079 17486079 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:17486079C>T ENST00000541323.1 + 5 1034 c.589C>T c.(589-591)Cgg>Tgg p.R197W PDGFRL_ENST00000398074.3_Missense_Mutation_p.R197W|PDGFRL_ENST00000251630.6_Missense_Mutation_p.R197W NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 197 extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) GGTTCCTTGTCGGGTGACCGT 0.532000 34 89 0 0 0.003755 0 0 HOXD8 3234 broad.mit.edu 37 2 176995585 176995585 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:176995585C>T ENST00000313173.4 + 1 1118 c.491C>T c.(490-492)tCg>tTg p.S164L HOXD8_ENST00000544999.1_Missense_Mutation_p.S164L|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Missense_Mutation_p.S60L|HOXD8_ENST00000450510.2_Missense_Mutation_p.S164L|HOXD8_ENST00000429017.1_5'UTR NM_001199746.1|NM_019558.3 NP_001186675.1|NP_062458.1 P13378 HXD8_HUMAN homeobox D8 164 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) GACTGTAAATCGTCCAGTGGT 0.488000 25 118 0 0 0.003330 0 0 KLK4 9622 broad.mit.edu 37 19 51410250 51410250 + Silent SNP A A C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:51410250A>C ENST00000324041.1 - 5 704 c.705T>G c.(703-705)ggT>ggG p.G235G KLK4_ENST00000431178.2_3'UTR NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 235 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) TGGTGTAGACACCTGGCACGC 0.552000 33 96 0 0 0.002836 0 0 GLI1 2735 broad.mit.edu 37 12 57857788 57857788 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57857788C>G ENST00000228682.2 + 3 198 c.107C>G c.(106-108)tCt>tGt p.S36C GLI1_ENST00000543426.1_Intron|GLI1_ENST00000546141.1_Intron NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 36 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CTAGGACTGTCTGGCCCGCCC 0.552000 42 204 0 0 0.011902 0 0 SMTN 6525 broad.mit.edu 37 22 31484020 31484020 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:31484020G>A ENST00000333137.7 + 3 339 c.121G>A c.(121-123)Gag>Aag p.E41K SMTN_ENST00000358743.1_Missense_Mutation_p.E41K|SMTN_ENST00000347557.2_Missense_Mutation_p.E41K|SMTN_ENST00000475548.1_3'UTR NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 41 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle p.E41K(2)|p.E33K(1) breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GCAGCGGCAGGAGCTGGAGCG 0.652000 6 28 0 0 0.001984 0 0 TANGO6 79613 broad.mit.edu 37 16 68961608 68961608 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:68961608C>A ENST00000261778.1 + 13 2277 c.2265C>A c.(2263-2265)gcC>gcA p.A755A RP11-521L9.1_ENST00000562790.1_lincRNA NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) GAGCCTTTGCCACTGAGGCCG 0.502000 14 140 1.05317e-09 1.12357e-09 0.002450 1 0 VEPH1 79674 broad.mit.edu 37 3 157188282 157188282 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:157188282C>T ENST00000362010.2 - 3 482 c.175G>A c.(175-177)Gaa>Aaa p.E59K VEPH1_ENST00000468233.1_Missense_Mutation_p.E59K|VEPH1_ENST00000392832.2_Missense_Mutation_p.E59K|VEPH1_ENST00000543418.1_Missense_Mutation_p.E59K|VEPH1_ENST00000494677.1_Missense_Mutation_p.E59K|VEPH1_ENST00000537559.1_Missense_Mutation_p.E59K|VEPH1_ENST00000392833.2_Missense_Mutation_p.E59K NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 59 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) ATACAGATTTCAACTACTGCC 0.408000 30 121 0 0 0.003271 0 0 NPR1 4881 broad.mit.edu 37 1 153661438 153661438 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:153661438C>T ENST00000368680.3 + 16 2899 c.2427C>T c.(2425-2427)agC>agT p.S809S NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 809 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GGGAGAACAGCAGCAACATCC 0.637000 32 100 0 0 0.008361 0 0 INPP1 3628 broad.mit.edu 37 2 191235867 191235867 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:191235867C>G ENST00000392329.2 + 7 1639 c.939C>G c.(937-939)ttC>ttG p.F313L INPP1_ENST00000541441.1_Missense_Mutation_p.F313L|INPP1_ENST00000322522.4_Missense_Mutation_p.F313L NM_001128928.1 NP_001122400.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 313 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) ATACCACATTCAAATGGGACT 0.468000 15 55 0 0 0.006122 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122774 12122774 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:12122774G>A ENST00000379388.2 + 4 3078 c.2746G>A c.(2746-2748)Gga>Aga p.G916R NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 916 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding p.G916R(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TCTTGGTACTGGACAGTCCCT 0.517000 12 47 0 0 0.001368 0 0 WDR3 10885 broad.mit.edu 37 1 118483837 118483837 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:118483837C>G ENST00000349139.4 + 8 927 c.880C>G c.(880-882)Ctt>Gtt p.L294V WDR3_ENST00000369441.3_3'UTR NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 294 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) AGGCAGGATTCTTGCTTGCCA 0.413000 5 55 0 0 0.001984 0 0 ZIC5 85416 broad.mit.edu 37 13 100622424 100622424 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:100622424G>A ENST00000267294.4 - 1 1739 c.1506C>T c.(1504-1506)ttC>ttT p.F502F NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 502 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CGGAGCGCGCGAAGACCTTGC 0.662000 22 95 0 0 0.002780 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870254 151870254 + Nonstop_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:151870254G>C ENST00000329342.5 + 3 1169 c.944G>C c.(943-945)tGa>tCa p.*315S NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 0 protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GGGGAAGAGTGAGTCTGAGCA 0.577000 29 60 0 0 0.007291 0 0 ETS2 2114 broad.mit.edu 37 21 40194646 40194646 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:40194646G>A ENST00000360214.3 + 11 1703 c.1243G>A c.(1243-1245)Gag>Aag p.E415K ETS2_ENST00000360938.3_Missense_Mutation_p.E415K NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 415 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) GATGAACTACGAGAAGCTGAG 0.493000 60 44 0 0 0.003610 0 0 SCN1A 6323 broad.mit.edu 37 2 166900256 166900256 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:166900256C>A ENST00000423058.2 - 11 1983 c.1966G>T c.(1966-1968)Gga>Tga p.G656* SCN1A_ENST00000303395.4_Nonsense_Mutation_p.G656*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.G656*|SCN1A_ENST00000409050.1_Intron NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 656 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ACTGAAGGTCCACCAACCAAG 0.478000 6 75 8.12818e-05 8.40193e-05 0.001984 1 0 MAP4K1 11184 broad.mit.edu 37 19 39103253 39103253 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:39103253G>A ENST00000591517.1 - 9 691 c.663C>T c.(661-663)ctC>ctT p.L221L MAP4K1_ENST00000589130.1_Silent_p.L217L|MAP4K1_ENST00000396857.2_Silent_p.L221L|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000586296.1_Silent_p.L221L NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 221 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTGCCTACCTGAGAGGGTGCA 0.607000 13 23 0 0 0.001855 0 0 FCAR 2204 broad.mit.edu 37 19 55401037 55401037 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:55401037G>A ENST00000391723.3 + 4 562 c.562G>A c.(562-564)Gac>Aac p.D188N FCAR_ENST00000345937.4_Silent_p.T128T|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Silent_p.T202T|FCAR_ENST00000391726.3_Silent_p.T116T|FCAR_ENST00000353758.4_Silent_p.T115T|FCAR_ENST00000391724.3_Silent_p.T190T|FCAR_ENST00000355524.3_Silent_p.T224T|FCAR_ENST00000359272.4_Silent_p.T212T NM_133274.2 NP_579808.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 0 Ig-like C2-type 2. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) AAGATTACACGACGCAGAACT 0.532000 102 303 0 0 0.003610 0 0 DENND4B 9909 broad.mit.edu 37 1 153911479 153911479 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:153911479G>C ENST00000361217.4 - 13 2280 c.1862C>G c.(1861-1863)tCt>tGt p.S621C NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 621 dDENN. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAGCAGCTGAGAGTAAAGTTT 0.537000 4 17 0 0 0.009096 0 0 RNF17 56163 broad.mit.edu 37 13 25348972 25348972 + Silent SNP A A C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:25348972A>C ENST00000255324.5 + 3 299 c.247A>C c.(247-249)Aga>Cga p.R83R RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.R83R|RNF17_ENST00000255325.5_Silent_p.R83R NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 83 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TGTAAATACTAGACAACGCTA 0.348000 16 27 0 0 0.004990 0 0 OPA3 80207 broad.mit.edu 37 19 46056955 46056955 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:46056955C>G ENST00000263275.4 - 2 411 c.357G>C c.(355-357)tgG>tgC p.W119C OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Missense_Mutation_p.W66C NM_025136.3 NP_079412.1 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 119 response to stimulus|visual perception mitochondrion cervix(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) GCAGCGCGTTCCAGGCAGCAC 0.716000 6 20 0 0 0.001984 0 0 NACA 4666 broad.mit.edu 37 12 57112997 57112997 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57112997C>A ENST00000454682.1 - 3 2598 c.2317G>T c.(2317-2319)Gag>Tag p.E773* NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CCAGAGTCCTCAGTTGGGCAC 0.493000 T BCL6 NHL 9 16 0.000442599 0.000456323 0.006214 1 0 PCDHB2 56133 broad.mit.edu 37 5 140475302 140475302 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:140475302G>C ENST00000194155.4 + 1 1076 c.928G>C c.(928-930)Gat>Cat p.D310H NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 310 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGAAACTGGATTTCGAATC 0.408000 16 49 0 0 0.004007 0 0 NACA 4666 broad.mit.edu 37 12 57110480 57110480 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57110480C>T ENST00000454682.1 - 3 5115 c.4834G>A c.(4834-4836)Gag>Aag p.E1612K NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GTAGGTGCCTCTTTGGGGGAA 0.607000 T BCL6 NHL 10 23 0 0 0.008291 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725254 106725254 + RNA SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:106725254G>T ENST00000390609.2 - 0 376 TTCATTTGCAGATACAGCGTG 0.522000 49 399 7.84493e-40 8.71902e-40 0.003610 1 0 IRF1 3659 broad.mit.edu 37 5 131825145 131825145 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:131825145C>T ENST00000245414.4 - 2 284 c.26G>A c.(25-27)aGa>aAa p.R9K IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Missense_Mutation_p.R9K NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 9 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) TAGCCAGGGTCTCATGCGCAT 0.493000 18 54 0 0 0.008871 0 0 SYT14 255928 broad.mit.edu 37 1 210334216 210334216 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:210334216G>A ENST00000537238.1 + 9 1774 c.1383G>A c.(1381-1383)gtG>gtA p.V461V SYT14_ENST00000472886.1_Silent_p.V499V|SYT14_ENST00000367015.1_Silent_p.V461V|SYT14_ENST00000534859.1_Silent_p.V525V|SYT14_ENST00000422431.1_Silent_p.V563V|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Silent_p.V518V|SYT14_ENST00000399639.2_3'UTR NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 499 C2 2. integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) TTTCTGATGTGACACTCATAC 0.418000 17 77 0 0 0.006122 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681481 44681481 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:44681481C>T ENST00000381176.4 - 4 558 c.426G>A c.(424-426)atG>atA p.M142I NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 142 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) GGTCCTGTTTCATCCATCGTC 0.652000 36 95 0 0 0.003271 0 0 UNC79 57578 broad.mit.edu 37 14 94041424 94041424 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:94041424C>G ENST00000553484.1 + 17 2245 c.2091C>G c.(2089-2091)atC>atG p.I697M UNC79_ENST00000555664.1_Missense_Mutation_p.I697M|UNC79_ENST00000256339.4_Missense_Mutation_p.I520M|UNC79_ENST00000393151.2_Missense_Mutation_p.I697M Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 697 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AGTTAGATATCATGGTTCCAC 0.328000 9 20 0 0 0.004482 0 0 EFHB 151651 broad.mit.edu 37 3 19924047 19924047 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:19924047C>G ENST00000295824.9 - 12 2484 c.2323G>C c.(2323-2325)Gaa>Caa p.E775Q EFHB_ENST00000344838.4_Missense_Mutation_p.E645Q NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 775 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 TATACCTCTTCTTTTGATCTG 0.299000 3 9 0 0 0.004672 0 0 HENMT1 113802 broad.mit.edu 37 1 109191450 109191450 + Nonsense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:109191450G>C ENST00000370032.5 - 8 1340 c.920C>G c.(919-921)tCa>tGa p.S307* HENMT1_ENST00000370031.1_Nonsense_Mutation_p.S338*|HENMT1_ENST00000402983.1_Nonsense_Mutation_p.S307* NM_144584.2 NP_653185.2 Q5T8I9 HENMT_HUMAN HEN1 methyltransferase homolog 1 (Arabidopsis) 307 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity p.G306_P310delGSKAP(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 AGGGGCCTTTGAGCCACCAAT 0.517000 9 56 0 0 0.006214 0 0 LTBR 4055 broad.mit.edu 37 12 6499994 6499994 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:6499994C>G ENST00000228918.4 + 10 1525 c.1199C>G c.(1198-1200)tCt>tGt p.S400C LTBR_ENST00000539925.1_Missense_Mutation_p.S381C|LTBR_ENST00000541102.1_Missense_Mutation_p.S257C NM_002342.1 NP_002333.1 P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) 400 apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 CCCGGGCTCTCTACACCCCAC 0.632000 56 123 0 0 0.003610 0 0 NRXN3 9369 broad.mit.edu 37 14 79432618 79432618 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:79432618G>A ENST00000554719.1 + 9 2018 c.1527G>A c.(1525-1527)ctG>ctA p.L509L NRXN3_ENST00000335750.5_Silent_p.L509L NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCAGCTACCTGAGCCTTGCCA 0.483000 17 81 0 0 0.007413 0 0 SMCO3 440087 broad.mit.edu 37 12 14959195 14959195 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:14959195G>A ENST00000316048.2 - 2 492 c.420C>T c.(418-420)gtC>gtT p.V140V C12orf60_ENST00000330828.2_Intron|C12orf60_ENST00000527783.1_Intron NM_001013698.2 NP_001013720.2 single-pass membrane protein with coiled-coil domains 3 TGCCAGTTGTGACATTTGAGC 0.438000 5 110 0 0 0.001168 0 0 KLRC3 3823 broad.mit.edu 37 12 10570960 10570960 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:10570960C>G ENST00000396439.2 - 4 513 c.469G>C c.(469-471)Gat>Cat p.D157H KLRC3_ENST00000381903.2_Missense_Mutation_p.D157H|KLRC3_ENST00000381904.2_Missense_Mutation_p.D157H|NKG2-E_ENST00000539033.1_Missense_Mutation_p.D157H NM_002261.2 NP_002252.2 killer cell lectin-like receptor subfamily C, member 3 large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 TCTTCATTATCTATACAAAGC 0.323000 29 84 0 0 0.002836 0 0 USP35 57558 broad.mit.edu 37 11 77920693 77920693 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:77920693C>G ENST00000529308.1 + 10 2053 c.1792C>G c.(1792-1794)Ctc>Gtc p.L598V USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.L329V|USP35_ENST00000441408.2_Missense_Mutation_p.L184V|USP35_ENST00000530267.1_Missense_Mutation_p.L166V NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 598 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) GGACCTCTCTCTCGCCTTCCC 0.622000 10 132 0 0 0.006214 0 0 NUDT19 390916 broad.mit.edu 37 19 33183199 33183199 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:33183199G>A ENST00000397061.3 + 1 333 c.333G>A c.(331-333)aaG>aaA p.K111K NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 111 Nudix hydrolase. mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) ATGACCACAAGACCGACAACA 0.716000 13 27 0 0 0.003163 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41738568 41738568 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:41738568C>T ENST00000352645.4 + 12 1490 c.1233C>T c.(1231-1233)atC>atT p.I411I ZC3H7B_ENST00000351589.4_Silent_p.I411I NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 427 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCTTGCTCATCAAGAACCCCT 0.602000 4 47 0 0 0.009096 0 0 CAPG 822 broad.mit.edu 37 2 85628366 85628366 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:85628366C>T ENST00000263867.4 - 5 687 c.438G>A c.(436-438)aaG>aaA p.K146K CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409724.1_Silent_p.K146K|CAPG_ENST00000409921.1_Silent_p.K146K|CAPG_ENST00000409670.1_Silent_p.K146K NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 146 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 CACGGATGTTCTTCTTCCCCT 0.592000 34 96 0 0 0.004878 0 0 MALAT1 378938 broad.mit.edu 37 11 65272344 65272344 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65272344G>A ENST00000534336.1 + 0 7112 NR_002819.2 GACCCAGTAAGAAAAAATAGC 0.418000 9 27 0 0 0.006214 0 0 MKNK1 8569 broad.mit.edu 37 1 47046281 47046281 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:47046281G>A ENST00000371946.4 - 4 318 c.155C>T c.(154-156)tCt>tTt p.S52F MKNK1_ENST00000465783.1_Missense_Mutation_p.S52F|MKNK1_ENST00000341183.5_Missense_Mutation_p.S52F|MKNK1_ENST00000428112.2_Missense_Mutation_p.S52F|MKNK1_ENST00000371944.4_5'UTR|MKNK1_ENST00000545730.1_Missense_Mutation_p.S52F|MKNK1_ENST00000371945.4_Missense_Mutation_p.S52F NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 52 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) AAGCAATTCAGAGGTCAGCTT 0.478000 22 41 0 0 0.003330 0 0 TAS1R3 83756 broad.mit.edu 37 1 1268701 1268701 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:1268701C>G ENST00000339381.5 + 5 1574 c.1542C>G c.(1540-1542)ttC>ttG p.F514L NM_152228.1 NP_689414.1 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 514 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) TCAAGGGGTTCCACTCCTGCT 0.711000 4 8 0 0 0.009096 0 0 RUNX1 861 broad.mit.edu 37 21 36171681 36171681 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:36171681G>A ENST00000344691.4 - 5 2380 c.803C>T c.(802-804)tCt>tTt p.S268F RUNX1_ENST00000325074.5_Missense_Mutation_p.S283F|RUNX1_ENST00000300305.3_Missense_Mutation_p.S295F|RUNX1_ENST00000437180.1_Missense_Mutation_p.S295F|RUNX1_ENST00000399240.1_Missense_Mutation_p.S204F NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 268 Pro/Ser/Thr-rich. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 TGGGTGCACAGAAGGAGAGGC 0.522000 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 7 79 0 0 0.001984 0 0 PRKAR2A 5576 broad.mit.edu 37 3 48789027 48789027 + Silent SNP G G A rs143784793 byFrequency TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:48789027G>A ENST00000265563.8 - 11 1455 c.1206C>T c.(1204-1206)ctC>ctT p.L402L PRKAR2A_ENST00000296446.8_Silent_p.L380L|PRKAR2A_ENST00000454963.1_Silent_p.L402L NM_004157.2 NP_004148.1 P13861 KAP2_HUMAN protein kinase, cAMP-dependent, regulatory, type II, alpha 402 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity SLC26A6/PRKAR2A(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) CCTACTGCCCGAGGTTGCCCA 0.522000 13 14 0 0 0.001368 0 0 PRSS3 5646 broad.mit.edu 37 9 33796723 33796723 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:33796723G>A ENST00000361005.5 + 2 294 c.294G>A c.(292-294)ctG>ctA p.L98L PRSS3_ENST00000429677.3_Silent_p.L34L|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Silent_p.L55L|PRSS3_ENST00000379405.3_Silent_p.L41L NM_007343.3 NP_031369.2 P35030 TRY3_HUMAN protease, serine, 3 98 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) AGGTGTCCCTGAATTCTGGCT 0.547000 7 178 0 0 0.006122 0 0 ANKZF1 55139 broad.mit.edu 37 2 220101166 220101166 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:220101166G>A ENST00000323348.5 + 14 2354 c.2180G>A c.(2179-2181)tGa>tAa p.*727* ANKZF1_ENST00000409849.1_Silent_p.*517*|ANKZF1_ENST00000410034.3_Silent_p.*727* NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 0 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCTCTTCCTGATCTCTTACA 0.557000 12 38 0 0 0.001855 0 0 CRTC3 64784 broad.mit.edu 37 15 91161162 91161162 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:91161162C>T ENST00000420329.2 + 8 808 c.661C>T c.(661-663)Ccg>Tcg p.P221S CRTC3_ENST00000268184.6_Missense_Mutation_p.P221S NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 221 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) GTTAAATGTTCCGAAGCCACT 0.438000 T MAML2 salivary gland mucoepidermoid 12 47 0 0 0.001368 0 0 RSPH10B 222967 broad.mit.edu 37 7 5967846 5967846 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:5967846C>T ENST00000405415.1 - 19 2799 c.2413G>A c.(2413-2415)Gat>Aat p.D805N RSPH10B_ENST00000404406.1_Missense_Mutation_p.D805N|RSPH10B_ENST00000441023.2_Missense_Mutation_p.D805N|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000337579.3_Missense_Mutation_p.D805N B2RC85 R10B2_HUMAN radial spoke head 10 homolog B (Chlamydomonas) 805 breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4) 11 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974) AGTTCGTCATCTTCCATCTTC 0.522000 46 253 0 0 0.003610 0 0 CABP1 9478 broad.mit.edu 37 12 121093905 121093905 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:121093905G>C ENST00000453000.1 + 1 804 c.292G>C c.(292-294)Gag>Cag p.E98Q CABP1_ENST00000351200.2_Intron|CABP1_ENST00000316803.3_Intron|CABP1_ENST00000288616.3_Missense_Mutation_p.E19Q Q9NZU7 CABP1_HUMAN calcium binding protein 1 0 Pro-rich. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GATGTGCCAGGAGGAACAGAC 0.652000 9 35 0 0 0.004482 0 0 WDR35 57539 broad.mit.edu 37 2 20130165 20130165 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:20130165A>G ENST00000345530.3 - 26 3261 c.3146T>C c.(3145-3147)cTg>cCg p.L1049P WDR35_ENST00000281405.4_Missense_Mutation_p.L1038P|WDR35_ENST00000416055.2_Missense_Mutation_p.L522P NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 1049 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTGTCTTCAGTGCAGTGTC 0.438000 18 174 0 0 0.010818 0 0 MALAT1 378938 broad.mit.edu 37 11 65272459 65272459 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65272459G>A ENST00000534336.1 + 0 7227 NR_002819.2 GCTTCCAGTTGAATTCACCAG 0.343000 8 18 0 0 0.003080 0 0 SARDH 1757 broad.mit.edu 37 9 136596561 136596561 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:136596561C>G ENST00000371872.4 - 4 813 c.556G>C c.(556-558)Gag>Cag p.E186Q SARDH_ENST00000298628.5_Missense_Mutation_p.E186Q|SARDH_ENST00000439388.1_Missense_Mutation_p.E186Q|SARDH_ENST00000371867.1_Missense_Mutation_p.E97Q|SARDH_ENST00000422262.2_Missense_Mutation_p.E18Q NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 186 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GTCTTGGTCTCTGCCGGGCTC 0.627000 7 71 0 0 0.001984 0 0 DNA2 1763 broad.mit.edu 37 10 70231756 70231756 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr10:70231756G>A ENST00000399180.2 - 1 123 c.124C>T c.(124-126)Cat>Tat p.H42Y DNA2_ENST00000399179.2_5'UTR P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 0 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 TGTCCCAAATGACCTGCGCCA 0.657000 17 20 0 0 0.004990 0 0 TMEM44 93109 broad.mit.edu 37 3 194309351 194309351 + Nonstop_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:194309351C>G ENST00000381975.3 - 10 1255 c.1190G>C c.(1189-1191)tGa>tCa p.*397S TMEM44-AS1_ENST00000419571.1_RNA|TMEM44_ENST00000392432.2_Silent_p.V445V|TMEM44_ENST00000476750.1_5'UTR|TMEM44_ENST00000347147.4_Silent_p.V398V|TMEM44_ENST00000473092.1_Silent_p.V408V|TMEM44-AS1_ENST00000453671.1_RNA|TMEM44-AS1_ENST00000447982.1_RNA|TMEM44_ENST00000273580.7_Silent_p.V409V Q2T9K0 TMM44_HUMAN transmembrane protein 44 0 integral to membrane breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1) 8 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) CTTCGAGGTTCACATCTTCAG 0.498000 10 235 0 0 0.008291 0 0 ABAT 18 broad.mit.edu 37 16 8875251 8875251 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:8875251C>A ENST00000569156.1 + 16 1783 c.1526C>A c.(1525-1527)tCa>tAa p.S509* ABAT_ENST00000268251.8_Silent_p.L489L|ABAT_ENST00000567812.1_Silent_p.L504L|TMEM186_ENST00000564869.1_5'UTR|ABAT_ENST00000425191.2_Silent_p.L489L|ABAT_ENST00000396600.2_Silent_p.L489L P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 0 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) ACCTGTTCCTCAATATTTTCA 0.478000 20 53 5.03518e-11 5.40791e-11 0.007413 1 0 RALGDS 5900 broad.mit.edu 37 9 135985044 135985044 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:135985044C>T ENST00000393160.3 - 4 741 c.388G>A c.(388-390)Gag>Aag p.E130K RALGDS_ENST00000372047.3_Missense_Mutation_p.E173K|RALGDS_ENST00000372062.3_Missense_Mutation_p.E156K|RALGDS_ENST00000542690.1_Missense_Mutation_p.E256K|RALGDS_ENST00000372050.3_Missense_Mutation_p.E185K|RALGDS_ENST00000393157.3_Missense_Mutation_p.E184K NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 185 N-terminal Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CCACCATCCTCGTCGGAATAG 0.557000 T CIITA """PMBL, Hodgkin Lymphona, """ 18 61 0 0 0.008871 0 0 SLC16A14 151473 broad.mit.edu 37 2 230902183 230902183 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:230902183C>G ENST00000295190.4 - 5 1904 c.1446G>C c.(1444-1446)atG>atC p.M482I NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 482 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) GTATTCCTATCATGTAAAGCA 0.328000 6 31 0 0 0.001984 0 0 CRELD1 78987 broad.mit.edu 37 3 9979762 9979762 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:9979762C>T ENST00000383811.3 + 4 1031 c.432C>T c.(430-432)ccC>ccT p.P144P CRELD1_ENST00000326434.5_Silent_p.P144P|CRELD1_ENST00000397170.3_Silent_p.P144P|CRELD1_ENST00000452070.1_Silent_p.P144P NM_015513.4 NP_056328.2 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 144 cardiac septum development|endocardial cushion development integral to membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1) 14 TCTGCTGCCCCGCAGGCACCT 0.652000 5 20 0 0 0.000602 0 0 TRIP11 9321 broad.mit.edu 37 14 92470587 92470587 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92470587C>G ENST00000267622.4 - 11 4106 c.3733G>C c.(3733-3735)Gag>Cag p.E1245Q NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1245 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TGGTGAAGCTCTTCCTGAAGC 0.408000 T PDGFRB AML 8 39 0 0 0.003080 0 0 LRRC66 339977 broad.mit.edu 37 4 52861814 52861814 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:52861814G>C ENST00000343457.3 - 4 1380 c.1374C>G c.(1372-1374)ttC>ttG p.F458L NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 458 integral to membrane p.F458L(2) central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GTGTCACCCAGAAAGGGGTCT 0.562000 26 72 0 0 0.003330 0 0 RSRC1 51319 broad.mit.edu 37 3 157920866 157920866 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:157920866G>A ENST00000295930.3 + 4 488 c.326G>A c.(325-327)aGg>aAg p.R109K RSRC1_ENST00000480820.1_Missense_Mutation_p.R109K|RSRC1_ENST00000475278.2_Missense_Mutation_p.R109K|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron NM_001271838.1|NM_016625.2 NP_001258767.1|NP_057709.2 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 109 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) TGTAGGTCCAGGTCAAGACCT 0.393000 4 45 0 0 0.009096 0 0 BICD2 23299 broad.mit.edu 37 9 95481630 95481630 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:95481630C>G ENST00000356884.6 - 5 1364 c.1297G>C c.(1297-1299)Gag>Cag p.E433Q BICD2_ENST00000375512.3_Missense_Mutation_p.E433Q NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 433 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 GCCAAGATCTCAGGCCCGTTG 0.637000 6 56 0 0 0.001984 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450679 85450679 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:85450679C>G ENST00000393217.2 + 8 2169 c.2108C>G c.(2107-2109)tCt>tGt p.S703C NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 703 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GAAGTCAACTCTCTTAAATCT 0.373000 46 119 0 0 0.009718 0 0 NKTR 4820 broad.mit.edu 37 3 42680839 42680839 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:42680839G>C ENST00000232978.8 + 13 3831 c.3643G>C c.(3643-3645)Gag>Cag p.E1215Q RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1215 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) GGAGGTGGCTGAGAAGAGCCA 0.527000 21 43 0 0 0.012319 0 0 CECR2 27443 broad.mit.edu 37 22 17956654 17956654 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:17956654G>C ENST00000262608.8 + 1 28 c.28G>C c.(28-30)Gat>Cat p.D10H CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000342247.5_Missense_Mutation_p.D9H|CECR2_ENST00000400573.4_Missense_Mutation_p.D29H NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 51 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) TCTTCACAGAGATGACGTGGA 0.463000 22 57 0 0 0.003330 0 0 FLG 2312 broad.mit.edu 37 1 152283989 152283989 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:152283989C>T ENST00000368799.1 - 3 3408 c.3373G>A c.(3373-3375)Gaa>Aaa p.E1125K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1125 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCAGACTGTTCATGAGTGCTC 0.607000 Ichthyosis 124 299 0 0 0.003610 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27834486 27834486 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:27834486G>C ENST00000318304.8 + 21 2204 c.1921G>C c.(1921-1923)Gat>Cat p.D641H PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D488H|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D610H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D635H NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 641 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) TAGTGACTTGGATATGCCATT 0.418000 11 103 0 0 0.001368 0 0 FSCN3 29999 broad.mit.edu 37 7 127236417 127236417 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:127236417C>T ENST00000265825.5 + 3 1096 c.877C>T c.(877-879)Cga>Tga p.R293* FSCN3_ENST00000420086.2_Nonsense_Mutation_p.R159* NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 293 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 GCGCTTAAACCGAATGTCCTT 0.537000 44 86 0 0 0.003610 0 0 HMGB2 3148 broad.mit.edu 37 4 174254786 174254786 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:174254786G>A ENST00000296503.5 - 2 888 c.15C>T c.(13-15)gaC>gaT p.D5D HMGB2_ENST00000446922.2_Silent_p.D5D|HMGB2_ENST00000438704.2_Silent_p.D5D P26583 HMGB2_HUMAN high mobility group box 2 5 base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) GCTTGTTGGGGTCTCCTTTAC 0.642000 4 64 0 0 0.009096 0 0 DIS3L2 129563 broad.mit.edu 37 2 233001212 233001212 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:233001212C>G ENST00000325385.7 + 8 1009 c.733C>G c.(733-735)Cga>Gga p.R245G DIS3L2_ENST00000409307.1_Missense_Mutation_p.R245G|DIS3L2_ENST00000360410.4_Silent_p.L264L|DIS3L2_ENST00000273009.6_Missense_Mutation_p.R245G NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 245 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) AAAACATTCTCGAGCAGCAAC 0.433000 21 85 0 0 0.002780 0 0 PDE3A 5139 broad.mit.edu 37 12 20799804 20799804 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:20799804C>A ENST00000359062.3 + 12 2525 c.2485C>A c.(2485-2487)Ctg>Atg p.L829M PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 829 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GTTGATGGCGCTGTATGTGGC 0.428000 33 126 1.62565e-12 1.7602e-12 0.012213 1 0 TRIM39 56658 broad.mit.edu 37 6 30297129 30297129 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:30297129C>T ENST00000376659.5 + 3 633 c.35C>T c.(34-36)tCt>tTt p.S12F TRIM39_ENST00000396551.3_Missense_Mutation_p.S12F|TRIM39_ENST00000396548.1_Missense_Mutation_p.S12F|TRIM39_ENST00000396547.1_Missense_Mutation_p.S12F|TRIM39_ENST00000376656.4_Missense_Mutation_p.S12F|TRIM39_ENST00000540416.1_Missense_Mutation_p.S12F NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 GCTGGGGCCTCTGCAGCCTCT 0.473000 50 149 0 0 0.003610 0 0 CCDC180 100499483 broad.mit.edu 37 9 100056386 100056386 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:100056386G>A ENST00000357054.1 + 13 1179 c.244G>A c.(244-246)Gac>Aac p.D82N CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.D82N|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000411667.2_5'UTR|CCDC180_ENST00000375205.2_Missense_Mutation_p.D122N|RP11-23J9.4_ENST00000534123.1_RNA coiled-coil domain containing 180 TGAGGGAGCAGACATGGGTAA 0.607000 21 50 0 0 0.008871 0 0 TRIP11 9321 broad.mit.edu 37 14 92470328 92470328 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92470328C>G ENST00000267622.4 - 11 4365 c.3992G>C c.(3991-3993)aGa>aCa p.R1331T NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1331 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CTTACTTGCTCTAAGACACTC 0.383000 T PDGFRB AML 9 57 0 0 0.006214 0 0 BEST3 144453 broad.mit.edu 37 12 70049452 70049452 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:70049452C>G ENST00000330891.5 - 10 1468 c.1242G>C c.(1240-1242)agG>agC p.R414S BEST3_ENST00000553096.1_Missense_Mutation_p.R308S|BEST3_ENST00000488961.1_Missense_Mutation_p.R201S|BEST3_ENST00000331471.4_Intron NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 414 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TTGTCTGCCTCCTGTAGCTTC 0.562000 25 114 0 0 0.004656 0 0 NPTX2 4885 broad.mit.edu 37 7 98256620 98256620 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:98256620C>G ENST00000265634.3 + 4 1197 c.1032C>G c.(1030-1032)atC>atG p.I344M NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 344 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GGCACCCCATCAAGCCCGGGG 0.662000 16 40 0 0 0.007413 0 0 AKAP4 8852 broad.mit.edu 37 X 49958507 49958507 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:49958507A>G ENST00000376056.2 - 5 980 c.830T>C c.(829-831)aTg>aCg p.M277T AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.M277T|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.M286T Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 286 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) AGTGCCACGCATTTCTGCAGC 0.498000 15 21 0 0 0.003163 0 0 NPLOC4 55666 broad.mit.edu 37 17 79563226 79563226 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:79563226C>G ENST00000374747.5 - 11 1165 c.1036G>C c.(1036-1038)Gac>Cac p.D346H NPLOC4_ENST00000539314.1_Missense_Mutation_p.D185H|NPLOC4_ENST00000331134.6_Missense_Mutation_p.D346H Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 346 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TTCTGGAAGTCTCCTGCAGTG 0.443000 24 59 0 0 0.003330 0 0 CACNA1G 8913 broad.mit.edu 37 17 48683370 48683370 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:48683370G>C ENST00000352832.5 + 22 4711 c.4339G>C c.(4339-4341)Gac>Cac p.D1447H CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1447H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1447H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1447H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D1470H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.D1470H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1447H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1470H NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1470 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GTACAACTTTGACAACCTTGG 0.587000 21 61 0 0 0.002299 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169684718 169684718 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:169684718C>T ENST00000444448.2 + 6 724 c.248C>T c.(247-249)gCg>gTg p.A83V NOSTRIN_ENST00000458381.2_Missense_Mutation_p.A83V|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.A55V|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.A5V|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.A55V|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.A83V|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.A5V Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficking 83 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 AAATCCACAGCGGACCTGCAT 0.463000 14 48 0 0 0.003163 0 0 NKTR 4820 broad.mit.edu 37 3 42680982 42680982 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:42680982G>C ENST00000232978.8 + 13 3974 c.3786G>C c.(3784-3786)ttG>ttC p.L1262F RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1262 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) CACAAGGCTTGAGAATAGAAA 0.453000 27 42 0 0 0.004656 0 0 CACNG4 27092 broad.mit.edu 37 17 65026887 65026887 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:65026887G>A ENST00000262138.3 + 4 753 c.751G>A c.(751-753)Gag>Aag p.E251K NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 251 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) AAGGTCCACCGAGGCCTCGCC 0.632000 24 58 0 0 0.003330 0 0 ZNF572 137209 broad.mit.edu 37 8 125989717 125989717 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:125989717C>T ENST00000319286.5 + 3 1361 c.1207C>T c.(1207-1209)Cag>Tag p.Q403* NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 403 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CATTAGACATCAGAGAACACA 0.423000 HNSCC(60;0.17) 10 56 0 0 0.006214 0 0 SVEP1 79987 broad.mit.edu 37 9 113169862 113169862 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:113169862G>A ENST00000401783.2 - 38 8354 c.8018C>T c.(8017-8019)tCa>tTa p.S2673L SVEP1_ENST00000297826.5_Missense_Mutation_p.S599L|SVEP1_ENST00000374469.1_Missense_Mutation_p.S2650L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2673 Sushi 21. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CAGAAAGTTTGATGAATGTGT 0.443000 55 167 0 0 0.003610 0 0 ALKBH3 221120 broad.mit.edu 37 11 43911373 43911373 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:43911373G>C ENST00000302708.4 + 6 776 c.365G>C c.(364-366)aGa>aCa p.R122T ALKBH3_ENST00000532410.1_3'UTR|ALKBH3_ENST00000378840.4_Missense_Mutation_p.R121T NM_139178.3 NP_631917.1 Q96Q83 ALKB3_HUMAN alkB, alkylation repair homolog 3 (E. coli) 122 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation mitochondrion|nucleoplasm damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|kidney(1)|lung(4)|prostate(1) 8 Vitamin C(DB00126) ACTGGCATCAGAGAGGGTAAG 0.478000 Direct reversal of damage 11 31 0 0 0.010729 0 0 OR10G4 390264 broad.mit.edu 37 11 123886938 123886938 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:123886938C>A ENST00000320891.4 + 1 657 c.657C>A c.(655-657)tcC>tcA p.S219S NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CCTATGTGTCCATCGTCTGTT 0.542000 36 60 5.8336e-16 6.36828e-16 0.003271 1 0 LIMK1 3984 broad.mit.edu 37 7 73521420 73521420 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:73521420C>G ENST00000418310.1 + 8 1154 c.1052C>G c.(1051-1053)tCt>tGt p.S351C LIMK1_ENST00000538333.3_Missense_Mutation_p.S287C|LIMK1_ENST00000336180.2_Missense_Mutation_p.S321C P53667 LIMK1_HUMAN LIM domain kinase 1 321 Protein kinase. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) CTGGGTCGCTCTGAGTCCCTC 0.697000 3 18 0 0 0.004672 0 0 MCL1 4170 broad.mit.edu 37 1 150551469 150551469 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:150551469C>T ENST00000369026.2 - 1 597 c.538G>A c.(538-540)Gag>Aag p.E180K MCL1_ENST00000307940.3_Missense_Mutation_p.E180K NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 180 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GAGATAATCTCCAGCGACTGC 0.627000 25 59 0 0 0.003954 0 0 ADD2 119 broad.mit.edu 37 2 70900406 70900406 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:70900406G>A ENST00000355733.3 - 15 2238 c.1794C>T c.(1792-1794)ttC>ttT p.F598F ADD2_ENST00000264436.3_Intron|ADD2_ENST00000407644.2_Intron NM_017488.3 NP_059522.1 P35612 ADDB_HUMAN adducin 2 (beta) 0 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 GGGCAACGCTGAAGAACTCGC 0.542000 12 43 0 0 0.001368 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627818 43627818 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:43627818G>A ENST00000332857.6 - 4 897 c.869C>T c.(868-870)tCg>tTg p.S290L SPATA31A6_ENST00000496386.1_5'UTR NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 AAAGGCGCACGAGGTTCTGGC 0.552000 83 82 0 0 0.003610 0 0 TMEM45B 120224 broad.mit.edu 37 11 129724648 129724648 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:129724648C>G ENST00000281441.3 + 3 410 c.322C>G c.(322-324)Ctg>Gtg p.L108V TMEM45B_ENST00000524567.1_Missense_Mutation_p.L108V NM_138788.3 NP_620143.1 Q96B21 TM45B_HUMAN transmembrane protein 45B 108 integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) GCTCACCTATCTGGTCAGCCA 0.483000 29 40 0 0 0.009535 0 0 NCOR1P1 149934 broad.mit.edu 37 20 26084205 26084205 + RNA SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:26084205C>G ENST00000478176.1 - 0 252 NR_003678.1 TCTATTAACTCTTCCTTTGAA 0.393000 12 23 0 0 0.010729 0 0 MALAT1 378938 broad.mit.edu 37 11 65273081 65273081 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65273081G>A ENST00000534336.1 + 0 7849 NR_002819.2 CCCTCACCTCGATGCAGCCAG 0.507000 23 87 0 0 0.012319 0 0 IL10RA 3587 broad.mit.edu 37 11 117860224 117860224 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:117860224G>A ENST00000227752.3 + 3 376 c.256G>A c.(256-258)Gtg>Atg p.V86M IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.V66M|IL10RA_ENST00000545409.1_Intron NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 86 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) CCTTACCGCAGTGACCTTGGA 0.577000 28 37 0 0 0.006320 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101572517 101572517 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:101572517G>A ENST00000326172.5 + 5 1262 c.1147G>A c.(1147-1149)Gag>Aag p.E383K NFKBIZ_ENST00000326151.5_Missense_Mutation_p.E261K|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.E283K NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 383 Required for transcriptional activity (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 CAGCGCCTGTGAGGCCATGGT 0.493000 21 124 0 0 0.002780 0 0 RRP1B 23076 broad.mit.edu 37 21 45104516 45104516 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:45104516C>G ENST00000340648.4 + 10 1091 c.974C>G c.(973-975)tCc>tGc p.S325C NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 325 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) AAGCGCCTCTCCAAACTCATC 0.488000 4 44 0 0 0.009096 0 0 S100A16 140576 broad.mit.edu 37 1 153580541 153580541 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:153580541G>C ENST00000368704.1 - 2 272 c.87C>G c.(85-87)gtC>gtG p.V29V S100A16_ENST00000368703.2_Silent_p.V29V|S100A16_ENST00000368705.2_Silent_p.V29V|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368706.4_Silent_p.V29V Q96FQ6 S10AG_HUMAN S100 calcium binding protein A16 29 EF-hand 1. cytosol|nucleolus calcium ion binding|protein homodimerization activity breast(1)|large_intestine(1)|prostate(1) 3 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TCTTGTTCTTGACCAGGCTGT 0.532000 13 46 0 0 0.003163 0 0 KIAA1407 57577 broad.mit.edu 37 3 113753906 113753906 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:113753906C>G ENST00000295878.3 - 6 830 c.684G>C c.(682-684)caG>caC p.Q228H KIAA1407_ENST00000545063.1_Missense_Mutation_p.Q59H NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 228 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GCACCAGACACTGAGCCTCCA 0.448000 21 120 0 0 0.010504 0 0 NACA 4666 broad.mit.edu 37 12 57110522 57110522 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57110522C>G ENST00000454682.1 - 3 5073 c.4792G>C c.(4792-4794)Gag>Cag p.E1598Q NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 ATGAGGAGCTCTTTGGGGGAT 0.597000 T BCL6 NHL 5 27 0 0 0.001168 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33566371 33566371 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:33566371G>A ENST00000321505.4 + 2 2121 c.1941G>A c.(1939-1941)ctG>ctA p.L647L KIAA1549L_ENST00000265654.5_Silent_p.L653L|KIAA1549L_ENST00000389726.3_Silent_p.L653L KIAA1549-like CATTGTTTCTGAGGAAATCAA 0.512000 8 17 0 0 0.003080 0 0 MALAT1 378938 broad.mit.edu 37 11 65272679 65272679 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65272679G>A ENST00000534336.1 + 0 7447 NR_002819.2 TAAAGGCACCGAAGGCTTAAA 0.502000 14 40 0 0 0.001855 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65152104 65152104 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:65152104C>G ENST00000323544.4 + 4 419 c.291C>G c.(289-291)atC>atG p.I97M AC069368.3_ENST00000437723.1_Missense_Mutation_p.I97M NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 97 PH. NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 TCAGCGACATCAAATTCCAGG 0.488000 37 157 0 0 0.008740 0 0 UNC119 9094 broad.mit.edu 37 17 26879514 26879514 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:26879514G>A ENST00000301032.4 - 1 135 c.62C>T c.(61-63)tCg>tTg p.S21L UNC119_ENST00000335765.4_Missense_Mutation_p.S21L NM_054035.2 NP_473376.1 Q13432 U119A_HUMAN unc-119 homolog (C. elegans) 21 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 7 Lung NSC(42;0.00431) GCTCTGGCCCGAGGGCCCCGG 0.761000 3 9 0 0 0.004672 0 0 ZNF70 7621 broad.mit.edu 37 22 24086061 24086061 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:24086061G>A ENST00000341976.3 - 2 1727 c.1267C>T c.(1267-1269)Ctg>Ttg p.L423L NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 423 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 TTGCCGCACAGATTGCACACG 0.547000 59 119 0 0 0.003610 0 0 SMG9 56006 broad.mit.edu 37 19 44251656 44251656 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:44251656G>T ENST00000601170.1 - 5 840 c.526C>A c.(526-528)Cgc>Agc p.R176S SMG9_ENST00000270066.6_Missense_Mutation_p.R176S Q9H0W8 SMG9_HUMAN SMG9 nonsense mediated mRNA decay factor 176 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay intracellular protein binding kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2) 19 TGCTTCATGCGCTCTGGGGGC 0.572000 4 60 0.00909568 0.00929367 0.009096 1 0 CFP 5199 broad.mit.edu 37 X 47485839 47485839 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:47485839G>A ENST00000247153.3 - 8 1261 c.1020C>T c.(1018-1020)atC>atT p.I340I CFP_ENST00000396992.3_Silent_p.I340I|CFP_ENST00000377005.2_Silent_p.I340I NM_002621.2 NP_002612.1 P27918 PROP_HUMAN complement factor properdin 340 TSP type-1 5. complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 GCTGGCCCGGGATTTCTTGAC 0.617000 15 10 0 0 0.004007 0 0 BTBD1 53339 broad.mit.edu 37 15 83687528 83687528 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:83687528G>A ENST00000379403.2 - 6 1132 c.1133C>T c.(1132-1134)tCa>tTa p.S378L RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000261721.4_Silent_p.F407F Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 0 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) ACATGACCCTGAATGTGTTAG 0.418000 13 48 0 0 0.002450 0 0 TTL 150465 broad.mit.edu 37 2 113258824 113258824 + Missense_Mutation SNP G G C rs2943625 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:113258824G>C ENST00000233336.5 + 4 702 c.511G>C c.(511-513)Gat>Cat p.D171H NM_153712.4 NP_714923.1 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 171 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity breast(1)|large_intestine(2)|ovary(1) 4 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) AGAGCTTCTCGATTTCATAGA 0.458000 T ETV6 ALL 9 50 0 0 0.010729 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22850972 22850972 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:22850972C>T ENST00000283645.4 + 11 1364 c.1234C>T c.(1234-1236)Ctg>Ttg p.L412L TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.L412L NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 412 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GCTCAAGGTTCTGCACAAAGT 0.448000 21 43 0 0 0.002299 0 0 LIN54 132660 broad.mit.edu 37 4 83858440 83858440 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:83858440G>A ENST00000340417.3 - 9 1921 c.1544C>T c.(1543-1545)tCa>tTa p.S515L LIN54_ENST00000506560.1_Missense_Mutation_p.S426L|LIN54_ENST00000505397.1_Missense_Mutation_p.S515L|LIN54_ENST00000446851.2_Missense_Mutation_p.S294L|LIN54_ENST00000442461.2_Missense_Mutation_p.S294L|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.S426L|LIN54_ENST00000510557.1_Missense_Mutation_p.S294L NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 515 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) GGCCGACTCTGATGGGATTAT 0.289000 13 54 0 0 0.001368 0 0 RFPL2 10739 broad.mit.edu 37 22 32587230 32587230 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:32587230C>T ENST00000400236.3 - 5 1601 c.396G>A c.(394-396)gaG>gaA p.E132E RFPL2_ENST00000248983.4_Silent_p.E132E|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Silent_p.E161E|RFPL2_ENST00000400237.1_Silent_p.E222E NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 222 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 CGTCAAATCTCTCGGCAAGGT 0.582000 8 95 0 0 0.003080 0 0 SPAG4 6676 broad.mit.edu 37 20 34206846 34206846 + Splice_Site SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:34206846G>C ENST00000374273.3 + 8 831 c.717_splice c.e8-1 p.R240_splice NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 240 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) TCCTTGCAGAGAGTGGCCAAG 0.592000 14 57 0 0 0.002450 0 0 SSPN 8082 broad.mit.edu 37 12 26377309 26377309 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:26377309G>C ENST00000242729.2 + 2 540 c.363G>C c.(361-363)atG>atC p.M121I SSPN_ENST00000422622.2_Missense_Mutation_p.M18I|SSPN_ENST00000540266.1_Missense_Mutation_p.M18I|SSPN_ENST00000535504.1_Missense_Mutation_p.M121I|RP11-283G6.4_ENST00000540392.1_RNA NM_005086.4 NP_005077.2 Q14714 SSPN_HUMAN sarcospan 121 cell adhesion|muscle contraction cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 Colorectal(261;0.0847) AATTTTCTATGAAAGTAAGTT 0.373000 45 152 0 0 0.010771 0 0 YTHDC2 64848 broad.mit.edu 37 5 112851047 112851047 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:112851047C>T ENST00000161863.4 + 2 479 c.266C>T c.(265-267)tCt>tTt p.S89F YTHDC2_ENST00000515883.1_Missense_Mutation_p.S89F NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 89 R3H. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GGTTTGGTCTCTAAAAGTAAA 0.333000 15 63 0 0 0.003163 0 0 HGSNAT 138050 broad.mit.edu 37 8 43048965 43048965 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:43048965G>A ENST00000458501.2 + 14 1527 c.1527G>A c.(1525-1527)gtG>gtA p.V509V HGSNAT_ENST00000379644.4_Silent_p.V481V|HGSNAT_ENST00000297798.7_Silent_p.V213V|HGSNAT_ENST00000521576.1_Silent_p.V198V Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 509 V -> L (does not have any clinical significance; no loss of enzymatic activity). lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) ACTCCATCGTGATGGCCTTTT 0.403000 24 62 0 0 0.003330 0 0 DDI2 84301 broad.mit.edu 37 1 15983119 15983119 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:15983119G>A ENST00000480945.1 + 9 1362 c.1191G>A c.(1189-1191)caG>caA p.Q397Q NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA-damage inducible 1 homolog 2 (S. cerevisiae) 397 proteolysis aspartic-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1) 17 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CAGAGCGTCAGAAGCCATGAT 0.458000 39 93 0 0 0.007835 0 0 PIWIL2 55124 broad.mit.edu 37 8 22210625 22210625 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:22210625C>T ENST00000356766.6 + 21 2705 c.2557C>T c.(2557-2559)Cag>Tag p.Q853* PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.Q853*|PIWIL2_ENST00000454009.2_Nonsense_Mutation_p.Q853* NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 853 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) GTTTGTAGTTCAGAAGAAAAT 0.413000 33 68 0 0 0.002836 0 0 FRAS1 80144 broad.mit.edu 37 4 79455676 79455676 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:79455676C>T ENST00000264895.6 + 71 11439 c.10999C>T c.(10999-11001)Cag>Tag p.Q3667* NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3662 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CACTGAATTTCAGCTCTGCAA 0.418000 28 120 0 0 0.009535 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12918895 12918895 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:12918895G>C ENST00000240189.2 + 2 118 c.31G>C c.(31-33)Gag>Cag p.E11Q NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 11 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGACTACTGGAGCTGGCGGG 0.557000 35 148 0 0 0.004289 0 0 NRROS 375387 broad.mit.edu 37 3 196386869 196386869 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:196386869G>A ENST00000328557.4 + 3 558 c.355G>A c.(355-357)Gag>Aag p.E119K NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species CTGCCTCTCAGAGAACTACGA 0.672000 7 51 0 0 0.001984 0 0 STK11 6794 broad.mit.edu 37 19 1221279 1221279 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:1221279G>A ENST00000326873.7 + 6 1975 c.802G>A c.(802-804)Ggg>Agg p.G268R NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 268 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.Y246fs*3(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TGAGAACATCGGGAAGGGGAG 0.607000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 5 8 0 0 0.000602 0 0 TMEM147 10430 broad.mit.edu 37 19 36037925 36037925 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:36037925C>T ENST00000392204.2 + 4 604 c.276C>T c.(274-276)atC>atT p.I92I TMEM147_ENST00000392205.1_Silent_p.I141I|TMEM147_ENST00000222284.5_Silent_p.I141I NM_001242597.1 NP_001229526.1 Q9BVK8 TM147_HUMAN transmembrane protein 147 141 endoplasmic reticulum membrane|integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) ACTCCAACATCAGTCTGGTAG 0.567000 19 93 0 0 0.007413 0 0 MPL 4352 broad.mit.edu 37 1 43812513 43812513 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:43812513C>G ENST00000372470.3 + 8 1258 c.1216C>G c.(1216-1218)Ctg>Gtg p.L406V MPL_ENST00000413998.2_Missense_Mutation_p.L406V NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 406 Fibronectin type-III 2. cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity p.L406V(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CAGTGGGCATCTGGAATTGGA 0.567000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 17 80 0 0 0.004007 0 0 OR2C3 81472 broad.mit.edu 37 1 247694956 247694956 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:247694956C>G ENST00000366487.3 - 2 1219 c.858G>C c.(856-858)ctG>ctC p.L286L GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TAAGTGGGTTCAGCGCAGGAG 0.547000 7 93 0 0 0.003080 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38162181 38162181 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:38162181G>A ENST00000317025.8 - 14 3052 c.2535C>T c.(2533-2535)ctC>ctT p.L845L WHSC1L1_ENST00000433384.2_Silent_p.L845L|WHSC1L1_ENST00000527502.1_Silent_p.L845L NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 845 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TACTACAGATGAGAATGTAGG 0.438000 T NUP98 AML 17 94 0 0 0.004990 0 0 LIMK1 3984 broad.mit.edu 37 7 73520530 73520530 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:73520530C>T ENST00000418310.1 + 7 1030 c.928C>T c.(928-930)Ccc>Tcc p.P310S LIMK1_ENST00000538333.3_Missense_Mutation_p.P246S|LIMK1_ENST00000336180.2_Missense_Mutation_p.P280S P53667 LIMK1_HUMAN LIM domain kinase 1 280 actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) GGCTTATACTCCCAGCGGGGA 0.657000 36 176 0 0 0.003755 0 0 UNC5D 137970 broad.mit.edu 37 8 35616848 35616848 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:35616848C>G ENST00000287272.2 + 13 1987 c.1967C>G c.(1966-1968)tCa>tGa p.S656* UNC5D_ENST00000453357.2_Nonsense_Mutation_p.S720*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.S730*|UNC5D_ENST00000404895.2_Nonsense_Mutation_p.S725*|UNC5D_ENST00000449677.1_Nonsense_Mutation_p.S301*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.S658* Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 725 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GAAGTGGTTTCAGATGAAAGG 0.378000 22 68 0 0 0.010504 0 0 RTEL1 51750 broad.mit.edu 37 20 62298846 62298846 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:62298846G>C ENST00000318100.4 + 8 1466 c.639G>C c.(637-639)cgG>cgC p.R213R RTEL1_ENST00000370018.3_Silent_p.R213R|RTEL1_ENST00000360203.5_Silent_p.R213R|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.R213R|RTEL1_ENST00000508582.2_Silent_p.R237R Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 213 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) ACCTGTCCCGGAACCTGAAGC 0.572000 61 145 0 0 0.003610 0 0 SNAP91 9892 broad.mit.edu 37 6 84311158 84311158 + Splice_Site SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:84311158C>G ENST00000428679.2 - 16 1750 c.e16-1 SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Splice_Site|SNAP91_ENST00000521485.1_Splice_Site|SNAP91_ENST00000195649.6_Splice_Site|SNAP91_ENST00000520302.1_Splice_Site|SNAP91_ENST00000439399.2_Splice_Site|SNAP91_ENST00000521743.1_Splice_Site O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GCCAAAGAATCTATATTTCAC 0.413000 5 40 0 0 0.000602 0 0 ABAT 18 broad.mit.edu 37 16 8873373 8873373 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:8873373G>A ENST00000396600.2 + 15 2245 c.1307G>A c.(1306-1308)cGa>cAa p.R436Q ABAT_ENST00000268251.8_Missense_Mutation_p.R436Q|ABAT_ENST00000567812.1_Missense_Mutation_p.R451Q|ABAT_ENST00000569156.1_Missense_Mutation_p.R436Q|ABAT_ENST00000425191.2_Missense_Mutation_p.R436Q NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 436 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) GTGAGAGGACGAGGCACCTTT 0.532000 8 51 0 0 0.004482 0 0 CELSR2 1952 broad.mit.edu 37 1 109795615 109795615 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:109795615G>A ENST00000271332.3 + 1 2975 c.2914G>A c.(2914-2916)Gac>Aac p.D972N NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 972 Cadherin 8. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTTTCAGCTGGACATCTTCTC 0.592000 28 76 0 0 0.006320 0 0 MCM2 4171 broad.mit.edu 37 3 127327234 127327234 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:127327234C>T ENST00000265056.7 + 7 1355 c.1111C>T c.(1111-1113)Cag>Tag p.Q371* NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 371 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 GACCATCTATCAGAACTACCA 0.572000 68 229 0 0 0.003610 0 0 ZNF584 201514 broad.mit.edu 37 19 58921347 58921347 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:58921347G>C ENST00000306910.4 + 2 581 c.58G>C c.(58-60)Gag>Cag p.E20Q ZNF584_ENST00000596281.1_Intron|ZNF584_ENST00000593920.1_Intron|ZNF584_ENST00000322834.7_Missense_Mutation_p.E12Q|ZNF584_ENST00000599238.1_Intron|ZNF584_ENST00000596921.1_Intron NM_173548.1 NP_775819.1 Q8IVC4 ZN584_HUMAN zinc finger protein 584 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) GGTGATGTTTGAGGATGTGAC 0.498000 23 81 0 0 0.003330 0 0 CEP104 9731 broad.mit.edu 37 1 3756183 3756183 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:3756183C>G ENST00000378230.3 - 7 1048 c.724G>C c.(724-726)Gat>Cat p.D242H NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 242 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 TTTTGCAAATCAGCAATGGCT 0.348000 14 89 0 0 0.002450 0 0 ZNF816 125893 broad.mit.edu 37 19 53454424 53454424 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:53454424G>A ENST00000357666.4 - 5 904 c.604C>T c.(604-606)Cat>Tat p.H202Y ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H202Y NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TTAGAAATATGAGTTTTGAGC 0.368000 19 66 0 0 0.006122 0 0 SLC22A15 55356 broad.mit.edu 37 1 116577934 116577934 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:116577934G>A ENST00000369503.4 + 7 1201 c.1071G>A c.(1069-1071)ttG>ttA p.L357L SLC22A15_ENST00000481127.1_3'UTR NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 357 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GTATCTACTTGATTAACCAAA 0.438000 12 28 0 0 0.010729 0 0 PCMTD2 55251 broad.mit.edu 37 20 62904683 62904683 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:62904683G>C ENST00000308824.6 + 6 943 c.816G>C c.(814-816)aaG>aaC p.K272N PCMTD2_ENST00000266078.6_Missense_Mutation_p.K48N|PCMTD2_ENST00000369758.3_Missense_Mutation_p.K245N|PCMTD2_ENST00000299468.7_Intron NM_018257.2 NP_060727.2 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 272 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) ACGGACTAAAGAACACCCCCA 0.493000 27 87 0 0 0.005443 0 0 OR6C6 283365 broad.mit.edu 37 12 55688558 55688558 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:55688558G>A ENST00000358433.2 - 1 458 c.459C>T c.(457-459)atC>atT p.I153I NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 GGGGAAATATGATTAAGAATC 0.418000 8 49 0 0 0.003080 0 0 CDH24 64403 broad.mit.edu 37 14 23523752 23523752 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:23523752G>C ENST00000397359.3 - 5 1006 c.747C>G c.(745-747)ctC>ctG p.L249L CDH24_ENST00000554034.1_Silent_p.L249L|CDH24_ENST00000487137.2_Silent_p.L249L|CDH24_ENST00000267383.5_Silent_p.L249L NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 249 Cadherin 2. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) TGACATCGCTGAGCGTGACAG 0.607000 OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 27 0 0 0.001368 0 0 TRIP11 9321 broad.mit.edu 37 14 92471517 92471517 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471517C>G ENST00000267622.4 - 11 3176 c.2803G>C c.(2803-2805)Gag>Cag p.E935Q NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 935 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTCTTTTGCTCTTGTAAAGAC 0.368000 T PDGFRB AML 15 107 0 0 0.004007 0 0 MALAT1 378938 broad.mit.edu 37 11 65272108 65272108 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65272108G>A ENST00000534336.1 + 0 6876 NR_002819.2 GGAGGGGACTGAAGCCTTTAG 0.373000 8 23 0 0 0.003080 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1797130 1797130 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:1797130C>T ENST00000250894.4 + 6 1002 c.845C>T c.(844-846)tCg>tTg p.S282L MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.S282L NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 282 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 TCCGTGCCCTCGGCCGCCGTC 0.672000 30 54 0 0 0.010818 0 0 MOGS 7841 broad.mit.edu 37 2 74690021 74690021 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:74690021C>T ENST00000233616.4 - 4 1057 c.895G>A c.(895-897)Ggc>Agc p.G299S MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.G193S NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 299 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity p.G299C(1) cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 CCTGGCAAGCCGAGGTAGCGT 0.582000 51 134 0 0 0.003610 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 6 40 0 0 0.001984 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530308 140530308 + Missense_Mutation SNP A A T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:140530308A>T ENST00000231136.1 + 1 470 c.470A>T c.(469-471)cAc>cTc p.H157L PCDHB6_ENST00000543635.1_Missense_Mutation_p.H21L NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 157 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAATGGCACACGATTTAGAC 0.483000 43 156 0 0 0.009718 0 0 TBC1D31 93594 broad.mit.edu 37 8 124109599 124109599 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:124109599G>C ENST00000287380.1 + 6 839 c.749G>C c.(748-750)aGa>aCa p.R250T TBC1D31_ENST00000309336.3_Missense_Mutation_p.R250T|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R145T|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R250T|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R145T|TBC1D31_ENST00000378080.2_Missense_Mutation_p.R145T NM_145647.3 NP_663622.2 TBC1 domain family, member 31 CAGCTCTTTAGAATTATCCAG 0.408000 13 50 0 0 0.001855 0 0 SLC1A3 6507 broad.mit.edu 37 5 36686317 36686317 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:36686317G>A ENST00000265113.4 + 10 2051 c.1575G>A c.(1573-1575)ctG>ctA p.L525L CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Silent_p.L480L NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 525 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) CATATCAACTGATTGCACAGG 0.393000 27 185 0 0 0.006320 0 0 CMYA5 202333 broad.mit.edu 37 5 79029812 79029812 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:79029812C>T ENST00000446378.2 + 2 5255 c.5224C>T c.(5224-5226)Cag>Tag p.Q1742* NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1742 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGAAGAATTTCAGCCATTTAC 0.423000 11 45 0 0 0.010729 0 0 TRIP11 9321 broad.mit.edu 37 14 92469841 92469841 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92469841C>T ENST00000267622.4 - 11 4852 c.4479G>A c.(4477-4479)ctG>ctA p.L1493L NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1493 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CTTTTTCTCGCAGCATCATAG 0.378000 T PDGFRB AML 20 92 0 0 0.010504 0 0 DNAH17 8632 broad.mit.edu 37 17 76455962 76455962 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:76455962G>A ENST00000389840.5 - 60 9639 c.9515C>T c.(9514-9516)gCg>gTg p.A3172V DNAH17_ENST00000585328.1_Missense_Mutation_p.A3181V|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GATCTTGGCCGCCTTCCAGCT 0.592000 41 34 0 0 0.007835 0 0 MROH2B 133558 broad.mit.edu 37 5 41057214 41057214 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:41057214G>C ENST00000399564.4 - 9 1366 c.916C>G c.(916-918)Cta>Gta p.L306V MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GTCCTACCTAGAATGAGAAAA 0.413000 10 44 0 0 0.006214 0 0 ATP13A4 84239 broad.mit.edu 37 3 193185208 193185208 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:193185208C>G ENST00000342695.4 - 10 1333 c.1011G>C c.(1009-1011)caG>caC p.Q337H ATP13A4_ENST00000295548.3_Missense_Mutation_p.Q337H|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q337H NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 337 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCGCTTCACTCTGTGTTTTCC 0.502000 19 163 0 0 0.010504 0 0 RASD1 51655 broad.mit.edu 37 17 17398763 17398763 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:17398763G>A ENST00000225688.3 - 2 733 c.522C>T c.(520-522)ttC>ttT p.F174F RASD1_ENST00000579152.1_3'UTR NM_001199989.1|NM_016084.4 NP_001186918.1|NP_057168.1 Q9Y272 RASD1_HUMAN RAS, dexamethasone-induced 1 174 G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction nucleus|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 CCGAGATCTCGAAGTAGGCGC 0.647000 5 9 0 0 0.001168 0 0 FCAR 2204 broad.mit.edu 37 19 55401049 55401049 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:55401049G>C ENST00000355524.3 + 5 694 c.684G>C c.(682-684)ttG>ttC p.L228F FCAR_ENST00000345937.4_Missense_Mutation_p.L132F|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Missense_Mutation_p.L206F|FCAR_ENST00000391726.3_Missense_Mutation_p.L120F|FCAR_ENST00000353758.4_Missense_Mutation_p.L119F|FCAR_ENST00000391724.3_Missense_Mutation_p.L194F|FCAR_ENST00000391723.3_Missense_Mutation_p.D192H|FCAR_ENST00000359272.4_Missense_Mutation_p.L216F NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 228 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CGCAGAACTTGATCCGCATGG 0.537000 108 317 0 0 0.003610 0 0 PHF23 79142 broad.mit.edu 37 17 7139717 7139717 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:7139717G>A ENST00000320316.3 - 4 755 c.529C>T c.(529-531)Cct>Tct p.P177S PHF23_ENST00000454255.2_Missense_Mutation_p.P173S|PHF23_ENST00000576955.1_Missense_Mutation_p.P47S|PHF23_ENST00000571362.1_Missense_Mutation_p.P110S NM_024297.2 NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 177 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 TTTCGAGGAGGATGGGAGAGG 0.632000 21 49 0 0 0.010504 0 0 KIF27 55582 broad.mit.edu 37 9 86518439 86518439 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:86518439G>C ENST00000297814.2 - 4 1137 c.994C>G c.(994-996)Ctc>Gtc p.L332V KIF27_ENST00000334204.2_Missense_Mutation_p.L332V|KIF27_ENST00000413982.1_Missense_Mutation_p.L332V NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 332 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 GCATATTTGAGAGAATTTAAG 0.433000 22 80 0 0 0.002299 0 0 CCDC9 26093 broad.mit.edu 37 19 47763996 47763996 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:47763996G>A ENST00000221922.6 + 5 584 c.362G>A c.(361-363)cGa>cAa p.R121Q NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 121 Gly-rich. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) GAGCAGCCTCGAGGAGGAGGA 0.716000 12 24 0 0 0.010729 0 0 STAT2 6773 broad.mit.edu 37 12 56740694 56740694 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:56740694C>A ENST00000314128.4 - 20 1793 c.1770G>T c.(1768-1770)ctG>ctT p.L590L STAT2_ENST00000557235.1_Silent_p.L586L|STAT2_ENST00000556539.1_5'UTR P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 590 SH2. interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 TGGTCTTCTTCAGCAGCCGGC 0.607000 21 95 6.33239e-15 6.88453e-15 0.010504 1 0 LRBA 987 broad.mit.edu 37 4 151773393 151773393 + Nonsense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:151773393G>A ENST00000535741.1 - 23 3942 c.3469C>T c.(3469-3471)Caa>Taa p.Q1157* LRBA_ENST00000507224.1_Nonsense_Mutation_p.Q1157*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.Q1157*|LRBA_ENST00000357115.3_Nonsense_Mutation_p.Q1157* P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1157 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TTTCCTTCTTGAAATATTAAT 0.383000 21 66 0 0 0.008871 0 0 DSTYK 25778 broad.mit.edu 37 1 205138659 205138659 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:205138659T>C ENST00000367162.3 - 3 986 c.956A>G c.(955-957)aAc>aGc p.N319S DSTYK_ENST00000367161.3_Missense_Mutation_p.N319S|DSTYK_ENST00000367160.4_Missense_Mutation_p.N319S NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 319 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 AGCCCCACAGTTCCAGTGACT 0.498000 10 52 0 0 0.008291 0 0 NACA 4666 broad.mit.edu 37 12 57106570 57106570 + Splice_Site SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57106570C>T ENST00000454682.1 - 8 6503 c.6222_splice c.e8+1 p.M2074_splice NACA_ENST00000356769.3_Splice_Site_p.M211_splice|NACA_ENST00000546392.1_Splice_Site_p.M211_splice|NACA_ENST00000550952.1_Splice_Site_p.M921_splice|NACA_ENST00000552540.1_Splice_Site_p.M211_splice|NACA_ENST00000393891.4_Splice_Site_p.M211_splice|NACA_ENST00000548563.1_Splice_Site_p.M132_splice NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 211 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GAACACTTACCATAATCGCAT 0.403000 T BCL6 NHL 17 79 0 0 0.006122 0 0 TRPM1 4308 broad.mit.edu 37 15 31338418 31338418 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:31338418G>C ENST00000542188.1 - 15 2147 c.1834C>G c.(1834-1836)Ctg>Gtg p.L612V TRPM1_ENST00000256552.6_Missense_Mutation_p.L595V|TRPM1_ENST00000397795.2_Missense_Mutation_p.L573V NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 573 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) TCCATTCCCAGAAGTTTAAGA 0.313000 11 25 0 0 0.008291 0 0 C6orf222 389384 broad.mit.edu 37 6 36285134 36285134 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:36285134C>T ENST00000437635.2 - 12 2135 c.1958G>A c.(1957-1959)tGa>tAa p.*653* NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 0 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 ACACAGCTTTCAATCTGGACT 0.443000 19 37 0 0 0.006122 0 0 SPC24 147841 broad.mit.edu 37 19 11266370 11266370 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:11266370C>G ENST00000592540.1 - 1 114 c.83G>C c.(82-84)cGa>cCa p.R28P NM_182513.2 NP_872319.1 Q8NBT2 SPC24_HUMAN SPC24, NDC80 kinetochore complex component 28 Interaction with the N-terminus of SPBC25.|Interaction with the NDC80-CDCA1 subcomplex. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1) 5 CAGCAGCCGTCGCTGCTGCGC 0.701000 3 10 0 0 0.004672 0 0 FNIP2 57600 broad.mit.edu 37 4 159791564 159791564 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:159791564C>T ENST00000264433.6 + 14 2967 c.2892C>T c.(2890-2892)acC>acT p.T964T FNIP2_ENST00000379346.3_Silent_p.T987T NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 964 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding p.T964T(1)|p.T290T(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) TTCATGGGACCGGCAGTGATG 0.562000 16 31 0 0 0.004007 0 0 CLTCL1 8218 broad.mit.edu 37 22 19207486 19207486 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:19207486C>T ENST00000263200.10 - 18 2899 c.2827G>A c.(2827-2829)Gag>Aag p.E943K CLTCL1_ENST00000427926.1_Missense_Mutation_p.E943K|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E943K NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 943 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) TAGCGGGCCTCGCTTTTGAAC 0.552000 T ? ALCL 38 130 0 0 0.005524 0 0 FAM111A 63901 broad.mit.edu 37 11 58919875 58919875 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:58919875A>G ENST00000528737.1 + 5 3552 c.734A>G c.(733-735)aAc>aGc p.N245S FAM111A_ENST00000533703.1_Missense_Mutation_p.N245S|FAM111A_ENST00000420244.1_Missense_Mutation_p.N245S|FAM111A_ENST00000531147.1_Missense_Mutation_p.N245S|FAM111A_ENST00000361723.3_Missense_Mutation_p.N245S Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 245 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) CTCATTGAAAACAATGACACC 0.418000 15 73 0 0 0.002450 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994519 45994519 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:45994519C>G ENST00000400374.3 + 1 914 c.884C>G c.(883-885)tCt>tGt p.S295C TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 295 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 GGGGCTTCCTCTCTGTGCTGC 0.637000 13 181 0 0 0.001368 0 0 MALAT1 378938 broad.mit.edu 37 11 65272931 65272931 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65272931G>A ENST00000534336.1 + 0 7699 NR_002819.2 AGCGGTGCTTGAAGGGGAGGG 0.468000 14 77 0 0 0.007413 0 0 SUPT6H 6830 broad.mit.edu 37 17 27001375 27001375 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:27001375G>C ENST00000314616.6 + 3 467 c.184G>C c.(184-186)Gat>Cat p.D62H SUPT6H_ENST00000347486.4_Missense_Mutation_p.D62H NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 62 Asp/Glu-rich. DDDEDEGEEDEGS -> ATAPGHPKLSEGR (in Ref. 1; AAC50821). chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CAATGACGATGATGATGAAGA 0.473000 10 27 0 0 0.008291 0 0 TRIP11 9321 broad.mit.edu 37 14 92471562 92471562 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471562C>T ENST00000267622.4 - 11 3131 c.2758G>A c.(2758-2760)Gaa>Aaa p.E920K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 920 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTTTGATCTTCAATTATCTTT 0.373000 T PDGFRB AML 24 86 0 0 0.002780 0 0 YY1 7528 broad.mit.edu 37 14 100743853 100743853 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:100743853C>T ENST00000262238.4 + 5 1421 c.1161C>T c.(1159-1161)ttC>ttT p.F387F NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 387 Involved in masking transactivation domain. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) TGTGCCCCTTCGATGGTTGTA 0.458000 18 50 0 0 0.004990 0 0 DTX4 23220 broad.mit.edu 37 11 58972245 58972245 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:58972245G>A ENST00000227451.3 + 9 1827 c.1723G>A c.(1723-1725)Gag>Aag p.E575K DTX4_ENST00000532982.1_Missense_Mutation_p.E469K NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 575 Notch signaling pathway cytoplasm zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) CATCTGGAATGAGGTCCACCA 0.562000 4 18 0 0 0.009096 0 0 ZNF700 90592 broad.mit.edu 37 19 12060474 12060474 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:12060474C>T ENST00000482090.1 + 3 1999 c.1581C>T c.(1579-1581)ttC>ttT p.F527F ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Silent_p.F545F|CTD-2006C1.12_ENST00000586394.1_RNA Q9H0M5 ZN700_HUMAN zinc finger protein 700 545 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 GTAAAGCCTTCAGATGTTGCA 0.423000 17 61 0 0 0.004007 0 0 SRCAP 10847 broad.mit.edu 37 16 30749759 30749759 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:30749759G>C ENST00000262518.4 + 34 8783 c.8398G>C c.(8398-8400)Gaa>Caa p.E2800Q SRCAP_ENST00000395059.2_Missense_Mutation_p.E2738Q|SRCAP_ENST00000344771.4_Missense_Mutation_p.E2642Q NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2800 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GTCAGGGCCAGAATCCTCCCC 0.652000 4 76 0 0 0.009096 0 0 TSSK6 83983 broad.mit.edu 37 19 19625897 19625897 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:19625897C>T ENST00000360913.3 - 1 941 c.340G>A c.(340-342)Gac>Aac p.D114N TSSK6_ENST00000585580.3_Missense_Mutation_p.D114N Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 114 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.D114N(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 GCAAAGAGGTCGCGCGCCTGA 0.657000 22 53 0 0 0.010504 0 0 CEP250 11190 broad.mit.edu 37 20 34054880 34054880 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:34054880G>C ENST00000397527.1 + 8 1302 c.582G>C c.(580-582)atG>atC p.M194I CEP250_ENST00000397524.1_Missense_Mutation_p.M194I|CEP250_ENST00000342580.4_Missense_Mutation_p.M194I NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 194 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) TCCTGGAAATGAAGTCAGCTA 0.527000 16 45 0 0 0.004990 0 0 SUMF2 25870 broad.mit.edu 37 7 56142396 56142396 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:56142396G>A ENST00000434526.2 + 5 590 c.559G>A c.(559-561)Gag>Aag p.E187K SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.E168K|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.E172K|SUMF2_ENST00000342190.6_Missense_Mutation_p.E187K|SUMF2_ENST00000275607.9_Missense_Mutation_p.E80K NM_001042469.1|NM_015411.2 NP_001035934.2|NP_056226.2 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 168 endoplasmic reticulum lumen metal ion binding breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 14 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CACGGAGGAAGAGTGGGAGTT 0.567000 OREG0018081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 112 0 0 0.001984 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 56 0 0 0.009096 0 0 CYFIP1 23191 broad.mit.edu 37 15 22935917 22935917 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:22935917G>A ENST00000313077.7 + 9 978 c.853G>A c.(853-855)Gat>Aat p.D285N CYFIP1_ENST00000560848.1_Missense_Mutation_p.D285N NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 285 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CTATAAGTTGGATGCCAAGAA 0.368000 5 26 0 0 0.001168 0 0 HOXB7 3217 broad.mit.edu 37 17 46685395 46685395 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:46685395C>A ENST00000239165.7 - 2 561 c.463G>T c.(463-465)Gaa>Taa p.E155* HOXB7_ENST00000567101.1_5'UTR NM_004502.3 NP_004493.3 P09629 HXB7_HUMAN homeobox B7 155 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 8 TAGTGAAATTCTTTCTCCAGC 0.542000 29 90 7.26314e-15 7.8857e-15 0.007291 1 0 CIT 11113 broad.mit.edu 37 12 120241085 120241085 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:120241085G>A ENST00000392521.2 - 10 1275 c.1220C>T c.(1219-1221)tCa>tTa p.S407L CIT_ENST00000261833.7_Missense_Mutation_p.S407L NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 407 AGC-kinase C-terminal. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CGAGAAGCCTGAGGGGCTCAG 0.493000 34 85 0 0 0.010818 0 0 USP9X 8239 broad.mit.edu 37 X 41000592 41000592 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:41000592G>A ENST00000324545.7 + 9 1702 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K USP9X_ENST00000378308.2_Missense_Mutation_p.E357K NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 357 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TGCACTGAATGAAGTTAATAA 0.348000 10 5 0 0 0.006214 0 0 NACA 4666 broad.mit.edu 37 12 57110609 57110609 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57110609C>G ENST00000454682.1 - 3 4986 c.4705G>C c.(4705-4707)Gaa>Caa p.E1569Q NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GCTGGGGCTTCTTTGGGGGTT 0.567000 T BCL6 NHL 7 20 0 0 0.001984 0 0 MYH9 4627 broad.mit.edu 37 22 36691645 36691645 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:36691645C>T ENST00000216181.5 - 26 3621 c.3391G>A c.(3391-3393)Gag>Aag p.E1131K NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1131 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTCTGCTTCTCAGCTTTATTC 0.547000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 36 0 0 0.003163 0 0 HDHD3 81932 broad.mit.edu 37 9 116136231 116136231 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:116136231G>C ENST00000238379.5 - 2 1301 c.404C>G c.(403-405)tCc>tGc p.S135C HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Missense_Mutation_p.S135C NM_031219.2 NP_112496.1 Q9BSH5 HDHD3_HUMAN haloacid dehalogenase-like hydrolase domain containing 3 135 phosphoglycolate phosphatase activity|protein binding large_intestine(2)|liver(1) 3 GTCAAAGTTGGAGATCACTGC 0.622000 43 137 0 0 0.003610 0 0 TAOK2 9344 broad.mit.edu 37 16 29994478 29994478 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:29994478C>G ENST00000308893.4 + 12 2128 c.1085C>G c.(1084-1086)tCc>tGc p.S362C TAOK2_ENST00000416441.2_Missense_Mutation_p.S189C|TAOK2_ENST00000279394.3_Missense_Mutation_p.S362C|TAOK2_ENST00000543033.1_Missense_Mutation_p.S362C NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 362 Ser-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 ATCAGCGCCTCCAGCCAGAGC 0.627000 42 96 0 0 0.009718 0 0 KPRP 448834 broad.mit.edu 37 1 152732722 152732722 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:152732722C>T ENST00000368773.1 + 2 716 c.658C>T c.(658-660)Cag>Tag p.Q220* KPRP_ENST00000606109.1_Nonsense_Mutation_p.Q220* NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 220 cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTTTCCCTCAGTATCGGTC 0.577000 9 138 0 0 0.010729 0 0 F11R 50848 broad.mit.edu 37 1 160970527 160970527 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:160970527G>A ENST00000368026.6 - 4 556 c.282C>T c.(280-282)atC>atT p.I94I F11R_ENST00000537746.1_Intron|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 94 Ig-like V-type 1. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) ACTTGAAGGTGATACCAGTTG 0.537000 9 46 0 0 0.004482 0 0 MUC16 94025 broad.mit.edu 37 19 9011341 9011341 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:9011341C>T ENST00000397910.4 - 36 39095 c.38892G>A c.(38890-38892)agG>agA p.R12964R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12966 SEA 6. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGACTGTTCCTGTCCAGGG 0.547000 49 150 0 0 0.003610 0 0 SPIRE2 84501 broad.mit.edu 37 16 89930015 89930015 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:89930015G>T ENST00000378247.3 + 11 1750 c.1707G>T c.(1705-1707)ggG>ggT p.G569G SPIRE2_ENST00000393062.2_Silent_p.G569G NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 569 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) TGAAGAAGGGGAAGGTGAGGC 0.587000 12 60 3.07112e-06 3.20779e-06 0.010729 1 0 R3HDM1 23518 broad.mit.edu 37 2 136399347 136399347 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:136399347C>T ENST00000264160.4 + 15 1831 c.1461C>T c.(1459-1461)atC>atT p.I487I R3HDM1_ENST00000410054.1_Silent_p.I431I|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409606.1_Silent_p.I487I|R3HDM1_ENST00000409478.1_Intron NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 487 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) GTATTCTGATCAACCCACAAA 0.418000 14 47 0 0 0.003163 0 0 CBX7 23492 broad.mit.edu 37 22 39530549 39530549 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:39530549G>C ENST00000216133.5 - 5 660 c.455C>G c.(454-456)tCg>tGg p.S152W CBX7_ENST00000401405.3_Intron|CBX7_ENST00000475962.1_Intron NM_175709.3 NP_783640.1 O95931 CBX7_HUMAN chromobox homolog 7 152 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Melanoma(58;0.04) CTTCTTGCGCGAGAGCCGCAG 0.701000 6 20 0 0 0.001168 0 0 KDM5B 10765 broad.mit.edu 37 1 202725518 202725518 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:202725518C>G ENST00000367265.3 - 10 2488 c.1324G>C c.(1324-1326)Gat>Cat p.D442H KDM5B_ENST00000367264.2_Missense_Mutation_p.D478H|KDM5B_ENST00000456180.1_5'UTR NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 442 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 ATTTTCCCATCTCGGACAGGA 0.418000 40 92 0 0 0.007835 0 0 LIMS2 55679 broad.mit.edu 37 2 128415128 128415128 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:128415128G>A ENST00000409455.1 - 2 640 c.5C>T c.(4-6)tCg>tTg p.S2L LIMS2_ENST00000545738.2_Missense_Mutation_p.S29L|LIMS2_ENST00000409808.2_Missense_Mutation_p.S2L|LIMS2_ENST00000410011.1_Missense_Mutation_p.S2L|LIMS2_ENST00000324938.5_Missense_Mutation_p.S31L|LIMS2_ENST00000355119.4_Missense_Mutation_p.S7L Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 7 cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) CAAGGCGTCCGACATATTGCT 0.662000 24 61 0 0 0.002780 0 0 HRG 3273 broad.mit.edu 37 3 186395631 186395631 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:186395631C>T ENST00000232003.4 + 7 1617 c.1537C>T c.(1537-1539)Cca>Tca p.P513S NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 513 fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GAGTGGGTTTCCACAAGTTTC 0.363000 33 88 0 0 0.012213 0 0 OR1L3 26735 broad.mit.edu 37 9 125438072 125438072 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:125438072C>T ENST00000304820.2 + 1 758 c.664C>T c.(664-666)Ctc>Ttc p.L222F NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 TCTAAGAATTCTCATCGCTGT 0.468000 23 72 0 0 0.012319 0 0 CHD1L 9557 broad.mit.edu 37 1 146756150 146756150 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:146756150G>A ENST00000369258.4 + 16 1852 c.1832G>A c.(1831-1833)cGa>cAa p.R611Q CHD1L_ENST00000431239.1_Missense_Mutation_p.R517Q|CHD1L_ENST00000361293.5_Missense_Mutation_p.R330Q|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.R407Q NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 611 chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) CAAGAGGGCCGATCACTCCGA 0.348000 17 63 0 0 0.004007 0 0 C20orf194 25943 broad.mit.edu 37 20 3299010 3299010 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:3299010C>A ENST00000252032.9 - 17 1461 c.1394G>T c.(1393-1395)gGa>gTa p.G465V C20orf194_ENST00000453730.2_Missense_Mutation_p.G203V NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 465 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 ACCATTGCCTCCCAGTAAGTC 0.388000 25 61 3.73148e-12 4.02939e-12 0.007291 1 0 TEX35 84066 broad.mit.edu 37 1 178491564 178491564 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:178491564G>A ENST00000319416.2 + 9 803 c.691G>A c.(691-693)Gag>Aag p.E231K TEX35_ENST00000258298.2_Intron|TEX35_ENST00000367639.1_Intron|TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367642.3_3'UTR NM_032126.4 NP_115502.2 testis expressed 35 gtcccagactgagggaaggtg 0.522000 5 9 0 0 0.000602 0 0 GAN 8139 broad.mit.edu 37 16 81388253 81388253 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:81388253C>G ENST00000248272.3 + 3 688 c.526C>G c.(526-528)Caa>Gaa p.Q176E NM_022041.3 NP_071324.1 Q9H2C0 GAN_HUMAN gigaxonin 176 BACK. cell death cytoplasm|neurofilament protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) GCTGAGTCCTCAAAAGCTTAA 0.408000 21 50 0 0 0.010504 0 0 PIN4 5303 broad.mit.edu 37 X 71401627 71401627 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:71401627G>A ENST00000218432.5 + 1 102 c.67G>A c.(67-69)Gct>Act p.A23T PIN4_ENST00000423432.2_Missense_Mutation_p.A23T|PIN4_ENST00000373669.2_Missense_Mutation_p.A23T Q9Y237 PIN4_HUMAN protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) 0 Necessary for association with the pre- rRNP complexes.|Necessary for nuclear localization and DNA-binding. protein folding|rRNA processing cytoplasm|mitochondrial matrix|nucleolus|preribosome|spindle bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity large_intestine(1)|lung(2) 3 Renal(35;0.156) TCAACAACAAGCTTCCAAGAT 0.547000 5 11 0 0 0.001168 0 0 VPS33A 65082 broad.mit.edu 37 12 122750886 122750886 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:122750886G>T ENST00000267199.4 - 1 182 c.70C>A c.(70-72)Cgc>Agc p.R24S VPS33A_ENST00000451053.2_Missense_Mutation_p.R24S|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R24S NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 24 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AGGAACTCGCGCAGCTCGCGA 0.667000 10 41 4.68919e-08 4.96942e-08 0.008291 1 0 MYH9 4627 broad.mit.edu 37 22 36691644 36691644 + Missense_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:36691644T>A ENST00000216181.5 - 26 3622 c.3392A>T c.(3391-3393)gAg>gTg p.E1131V NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1131 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTTCTGCTTCTCAGCTTTATT 0.547000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 37 0 0 0.003163 0 0 TIGD4 201798 broad.mit.edu 37 4 153692046 153692046 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:153692046C>G ENST00000304337.2 - 2 931 c.111G>C c.(109-111)aaG>aaC p.K37N NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 37 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) CTGCTTTTTTCTTGCCACTTT 0.358000 29 55 0 0 0.006320 0 0 HAX1 10456 broad.mit.edu 37 1 154246316 154246316 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:154246316C>G ENST00000328703.7 + 3 596 c.383C>G c.(382-384)tCa>tGa p.S128* HAX1_ENST00000457918.2_Nonsense_Mutation_p.S80*|HAX1_ENST00000483970.2_Nonsense_Mutation_p.S136*|HAX1_ENST00000532105.1_5'UTR NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 128 Involved in HCLS1 binding. Cleavage; by caspase-3. actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTTCGGGACTCAATGCTTAAG 0.557000 Kostmann syndrome 26 103 0 0 0.006320 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72492036 72492036 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr10:72492036C>T ENST00000373208.1 + 7 1138 c.1138C>T c.(1138-1140)Cac>Tac p.H380Y ADAMTS14_ENST00000373207.1_Missense_Mutation_p.H377Y NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 377 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TGGCATGTGTCACCCCCTGAG 0.597000 3 23 0 0 0.004672 0 0 EPCAM 4072 broad.mit.edu 37 2 47601169 47601169 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:47601169C>G ENST00000263735.4 + 3 765 c.407C>G c.(406-408)tCt>tGt p.S136C EPCAM_ENST00000405271.1_Missense_Mutation_p.S164C NM_002354.2 NP_002345.2 P16422 EPCAM_HUMAN epithelial cell adhesion molecule 136 positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding p.0?(2)|p.?(1) endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1) 15 ATAACCTGCTCTGAGCGAGTG 0.433000 8 39 0 0 0.004482 0 0 RIN3 79890 broad.mit.edu 37 14 93022127 93022127 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:93022127G>C ENST00000216487.7 + 2 235 c.76G>C c.(76-78)Gag>Cag p.E26Q NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 26 Poly-Glu. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) AGGAGAGGAAGAGGAAGAGGA 0.517000 14 22 0 0 0.001855 0 0 KLHL3 26249 broad.mit.edu 37 5 137045500 137045500 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:137045500C>T ENST00000508657.1 - 3 798 c.84G>A c.(82-84)gaG>gaA p.E28E KLHL3_ENST00000309755.4_Silent_p.E60E|KLHL3_ENST00000394937.3_Silent_p.E60E NM_001257194.1 NP_001244123.1 Q9UH77 KLHL3_HUMAN kelch-like family member 3 60 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) GGGCTTCTATCTCGACATCTT 0.537000 26 100 0 0 0.007291 0 0 TNK2 10188 broad.mit.edu 37 3 195595308 195595308 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:195595308G>C ENST00000333602.6 - 12 2433 c.1816C>G c.(1816-1818)Cag>Gag p.Q606E TNK2_ENST00000428187.1_Missense_Mutation_p.Q638E|TNK2_ENST00000392400.1_Missense_Mutation_p.Q606E|TNK2_ENST00000381916.2_Missense_Mutation_p.Q684E NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 606 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GTGGGGCTCTGAGGCGGGGTC 0.766000 11 22 0 0 0.010729 0 0 SLC2A1 6513 broad.mit.edu 37 1 43394969 43394969 + Missense_Mutation SNP G G C rs80359823 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:43394969G>C ENST00000426263.3 - 7 1062 c.884C>G c.(883-885)aCg>aGg p.T295R SLC2A1_ENST00000475162.1_Intron NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 295 T -> M (in GLUT1DS1; 75% of wild-type glucose uptake activity). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) GAAGATGCTCGTGGAGTAATA 0.572000 7 9 0 0 0.003080 0 0 RPLP0 6175 broad.mit.edu 37 12 120635242 120635242 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:120635242G>C ENST00000551150.1 - 6 990 c.675C>G c.(673-675)gtC>gtG p.V225V RPLP0_ENST00000546989.1_Silent_p.V189V|RPLP0_ENST00000552292.1_Silent_p.V15V|RPLP0_ENST00000313104.5_Silent_p.V163V|RPLP0_ENST00000392514.4_Silent_p.V225V|RPLP0_ENST00000228306.4_Silent_p.V225V P05388 RLA0_HUMAN ribosomal protein, large, P0 225 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCTGCAGACAGACACTGGCAA 0.488000 16 31 0 0 0.004990 0 0 FAM91A1 157769 broad.mit.edu 37 8 124810476 124810476 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:124810476C>T ENST00000334705.7 + 16 1804 c.1558C>T c.(1558-1560)Cag>Tag p.Q520* FAM91A1_ENST00000521166.1_Nonsense_Mutation_p.Q520* NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 520 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) CTGCACCCCTCAGGTAAAGAC 0.453000 17 52 0 0 0.004990 0 0 MOGAT1 116255 broad.mit.edu 37 2 223559247 223559247 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:223559247G>C ENST00000446656.3 + 4 645 c.645G>C c.(643-645)ttG>ttC p.L215F NM_058165.2 NP_477513.2 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 215 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) AAATTGCTTTGACCCATGGGT 0.413000 10 23 0 0 0.010729 0 0 COPB1 1315 broad.mit.edu 37 11 14507935 14507935 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:14507935G>C ENST00000249923.3 - 7 1115 c.815C>G c.(814-816)tCt>tGt p.S272C COPB1_ENST00000439561.2_Missense_Mutation_p.S272C NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 272 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 TGGTGCACTAGAGAGTGTCAC 0.398000 12 93 0 0 0.001855 0 0 NACA 4666 broad.mit.edu 37 12 57110634 57110634 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57110634C>G ENST00000454682.1 - 3 4961 c.4680G>C c.(4678-4680)aaG>aaC p.K1560N NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TTGCTGGGGTCTTTTTAGGGG 0.567000 T BCL6 NHL 11 27 0 0 0.001855 0 0 ARCN1 372 broad.mit.edu 37 11 118453900 118453900 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:118453900G>A ENST00000359415.4 + 4 562 c.397G>A c.(397-399)Gaa>Aaa p.E133K ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.E4K|ARCN1_ENST00000264028.4_Missense_Mutation_p.E92K P48444 COPD_HUMAN archain 1 92 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TTAGATCCCTGAATATTGCCG 0.348000 35 53 0 0 0.006999 0 0 RNF213 57674 broad.mit.edu 37 17 78358943 78358943 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:78358943C>T ENST00000582970.1 + 60 14570 c.14427C>T c.(14425-14427)atC>atT p.I4809I CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.I4858I|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Silent_p.I2882I|RNF213_ENST00000427003.3_3'UTR NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 1175 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ACAGCTCCATCAGAGGCTTCC 0.532000 11 44 0 0 0.010729 0 0 BMX 660 broad.mit.edu 37 X 15560113 15560113 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:15560113G>T ENST00000357607.2 + 15 1591 c.1403G>T c.(1402-1404)aGc>aTc p.S468I BMX_ENST00000348343.6_Missense_Mutation_p.S468I|BMX_ENST00000342014.6_Missense_Mutation_p.S468I P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 468 Protein kinase. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) AGGAAACTCAGCCATCCCAAG 0.373000 35 46 2.48696e-23 2.74494e-23 0.003271 1 0 BCAN 63827 broad.mit.edu 37 1 156621405 156621405 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:156621405C>T ENST00000329117.4 + 7 1557 c.1221C>T c.(1219-1221)tcC>tcT p.S407S BCAN_ENST00000361588.5_Silent_p.S407S|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 407 Glu-rich. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCATCTACTCCATCCCCATCA 0.577000 9 90 0 0 0.008291 0 0 ACIN1 22985 broad.mit.edu 37 14 23548138 23548138 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:23548138C>G ENST00000262710.1 - 7 2399 c.2072G>C c.(2071-2073)tGt>tCt p.C691S ACIN1_ENST00000555053.1_Missense_Mutation_p.C691S|ACIN1_ENST00000457657.1_Missense_Mutation_p.C651S|ACIN1_ENST00000605057.1_Missense_Mutation_p.C633S NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 691 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CTTTGGCTCACAGACCTGCAG 0.542000 9 39 0 0 0.006214 0 0 C16orf98 100652740 broad.mit.edu 37 16 31213943 31213943 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:31213943G>A ENST00000561916.2 + 2 265 c.169G>A c.(169-171)Gaa>Aaa p.E57K PYCARD_ENST00000247470.9_Silent_p.F23F|PYCARD_ENST00000350605.4_Silent_p.F23F chromosome 16 open reading frame 98 GCTTCAGCTTGAACTTCTTGA 0.706000 8 42 0 0 0.003080 0 0 RUFY3 22902 broad.mit.edu 37 4 71660554 71660554 + Missense_Mutation SNP A A T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:71660554A>T ENST00000381006.3 + 14 2079 c.1500A>T c.(1498-1500)agA>agT p.R500S RUFY3_ENST00000502653.1_Missense_Mutation_p.R447S NM_001037442.2 NP_001032519.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 335 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) AAGAAAGAAGATTACAAAACG 0.368000 6 91 0 0 0.001984 0 0 BTBD6 90135 broad.mit.edu 37 14 105716585 105716585 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:105716585C>A ENST00000463376.2 + 3 1350 c.809C>A c.(808-810)gCc>gAc p.A270D BRF1_ENST00000440513.3_Intron|BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.A345D|BTBD6_ENST00000536364.1_Missense_Mutation_p.A345D|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.A270D|BRF1_ENST00000327359.3_Intron Q96KE9 BTBD6_HUMAN BTB (POZ) domain containing 6 345 cytoplasmic mRNA processing body endometrium(1)|lung(3) 4 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) CAGTCTTCTGCCTACCGCAGC 0.622000 18 57 3.52763e-06 3.6798e-06 0.004990 1 0 SLCO1B1 10599 broad.mit.edu 37 12 21358889 21358889 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:21358889C>G ENST00000256958.2 + 11 1515 c.1419C>G c.(1417-1419)gtC>gtG p.V473V NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 473 Kazal-like. bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GGGAACCAGTCTGTGGAAACA 0.368000 11 82 0 0 0.010729 0 0 RASGRF1 5923 broad.mit.edu 37 15 79296198 79296198 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:79296198C>T ENST00000419573.3 - 16 2717 c.2443G>A c.(2443-2445)Gag>Aag p.E815K RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Missense_Mutation_p.E31K|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E799K NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 817 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GTATCGCCCTCATCTGGAATC 0.607000 14 38 0 0 0.002450 0 0 FAM3B 54097 broad.mit.edu 37 21 42694889 42694889 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:42694889G>T ENST00000398652.3 + 3 242 c.176G>T c.(175-177)tGt>tTt p.C59F FAM3B_ENST00000357985.2_Missense_Mutation_p.C20F|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Missense_Mutation_p.C43F|FAM3B_ENST00000398647.3_Intron P58499 FAM3B_HUMAN family with sequence similarity 3, member B 20 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) GCCTCCTTGTGTGCCTGGTAT 0.622000 9 44 0.000442599 0.000456323 0.006214 1 0 FAM20A 54757 broad.mit.edu 37 17 66548055 66548055 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:66548055C>T ENST00000592554.1 - 4 1400 c.678G>A c.(676-678)ctG>ctA p.L226L FAM20A_ENST00000226094.5_5'UTR NM_001243746.1|NM_017565.3 NP_001230675.1|NP_060035.2 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 226 extracellular region cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) CCGAGAACCTCAGCACCAGCT 0.552000 3 3 0 0 0.009096 0 0 DLG1 1739 broad.mit.edu 37 3 196792287 196792287 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:196792287C>T ENST00000346964.2 - 23 2521 c.2332G>A c.(2332-2334)Gat>Aat p.D778N DLG1_ENST00000422288.1_Missense_Mutation_p.D705N|DLG1_ENST00000419354.1_Missense_Mutation_p.D756N|DLG1_ENST00000392382.2_Missense_Mutation_p.D723N|DLG1_ENST00000357674.4_Missense_Mutation_p.D745N|DLG1_ENST00000452595.1_Missense_Mutation_p.D640N|DLG1_ENST00000314062.3_Missense_Mutation_p.D705N|DLG1_ENST00000450955.1_Missense_Mutation_p.D745N|DLG1_ENST00000448528.2_Missense_Mutation_p.D756N|DLG1_ENST00000443183.1_Missense_Mutation_p.D652N NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 756 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TCTCTTCCATCTACCTCATAA 0.303000 7 135 0 0 0.001984 0 0 ZNF354C 30832 broad.mit.edu 37 5 178507032 178507032 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:178507032C>T ENST00000315475.6 + 5 1905 c.1599C>T c.(1597-1599)ttC>ttT p.F533F NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) GGAAACCTTTCATCTGCAGCT 0.383000 19 84 0 0 0.006320 0 0 HUWE1 10075 broad.mit.edu 37 X 53602642 53602642 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:53602642C>G ENST00000342160.3 - 44 6448 c.5991G>C c.(5989-5991)caG>caC p.Q1997H HUWE1_ENST00000262854.6_Missense_Mutation_p.Q1997H Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1997 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AGTCACTGCTCTGACGCGTAA 0.448000 6 7 0 0 0.001984 0 0 FGGY 55277 broad.mit.edu 37 1 59844477 59844477 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:59844477C>G ENST00000371218.4 + 5 706 c.522C>G c.(520-522)ttC>ttG p.F174L FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Missense_Mutation_p.F174L|FGGY_ENST00000371212.1_Missense_Mutation_p.F86L NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 174 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TCCCGGACTTCTTATCGTGGA 0.393000 3 47 0 0 0.004672 0 0 MAP10 54627 broad.mit.edu 37 1 232941206 232941206 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:232941206C>G ENST00000418460.1 + 1 564 c.437C>G c.(436-438)tCg>tGg p.S146W NM_019090.2 NP_061963.2 microtubule-associated protein 10 ATGGCGGCCTCGCTGTCCGAG 0.677000 7 14 0 0 0.001984 0 0 TRANK1 9881 broad.mit.edu 37 3 36897603 36897603 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:36897603C>G ENST00000429976.2 - 12 3725 c.3478G>C c.(3478-3480)Gag>Cag p.E1160Q TRANK1_ENST00000428977.2_Missense_Mutation_p.E610Q|TRANK1_ENST00000301807.6_Missense_Mutation_p.E610Q O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1160 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CTTTGTACCTCCTGGCACAGC 0.502000 8 117 0 0 0.003080 0 0 TRIP11 9321 broad.mit.edu 37 14 92471001 92471001 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92471001C>T ENST00000267622.4 - 11 3692 c.3319G>A c.(3319-3321)Gag>Aag p.E1107K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1107 E -> D (in dbSNP:rs4619320). transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CTAGTCTTCTCATTCAAAACA 0.363000 T PDGFRB AML 13 35 0 0 0.001368 0 0 THOC2 57187 broad.mit.edu 37 X 122866817 122866817 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:122866817G>A ENST00000245838.8 - 1 87 c.56C>T c.(55-57)tCa>tTa p.S19L THOC2_ENST00000355725.4_Missense_Mutation_p.S19L NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 19 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GCCTCTCCCTGATTTCTCCCA 0.632000 OREG0003978|OREG0003979 type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 37 0 0 0.001984 0 0 TRPC1 7220 broad.mit.edu 37 3 142443489 142443489 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:142443489G>A ENST00000273482.6 + 1 479 c.88G>A c.(88-90)Gag>Aag p.E30K TRPC1_ENST00000476941.1_Missense_Mutation_p.E30K NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 30 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 ctcGCCGAACGAGGTGATGGC 0.617000 12 65 0 0 0.010729 0 0 GPSM2 29899 broad.mit.edu 37 1 109461321 109461321 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:109461321G>A ENST00000406462.1 + 13 2123 c.1350G>A c.(1348-1350)ctG>ctA p.L450L GPSM2_ENST00000264126.3_Silent_p.L450L|AKNAD1_ENST00000357393.4_Intron P81274 GPSM2_HUMAN G-protein signaling modulator 2 450 G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3) 14 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) TCAACAGACTGAAGGGGAAAA 0.373000 9 56 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179498729 179498729 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:179498729G>A ENST00000589042.1 - 231 42721 c.42497C>T c.(42496-42498)tCt>tTt p.S14166F TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S12525F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S5101F|TTN_ENST00000342175.6_Missense_Mutation_p.S5293F|TTN_ENST00000359218.5_Missense_Mutation_p.S5226F|TTN_ENST00000342992.6_Missense_Mutation_p.S11598F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12525 Fibronectin type-III 2. 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) TTTTTCATGAGAAAGTTCACA 0.368000 69 156 0 0 0.003610 0 0 ABCA2 20 broad.mit.edu 37 9 139909920 139909920 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:139909920C>T ENST00000265662.5 - 24 3790 c.3643G>A c.(3643-3645)Gac>Aac p.D1215N ABCA2_ENST00000371605.3_Missense_Mutation_p.D1214N|ABCA2_ENST00000341511.6_Missense_Mutation_p.D1215N Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1214 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CGGTACCCGTCGCCATAGGTG 0.662000 3 10 0 0 0.004672 0 0 OS9 10956 broad.mit.edu 37 12 58112070 58112070 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:58112070G>C ENST00000315970.7 + 11 1317 c.1276G>C c.(1276-1278)Gat>Cat p.D426H OS9_ENST00000257966.8_Missense_Mutation_p.D427H|OS9_ENST00000552285.1_Missense_Mutation_p.D426H|OS9_ENST00000413095.2_Missense_Mutation_p.D220H|OS9_ENST00000439210.2_Missense_Mutation_p.D367H|OS9_ENST00000435406.2_Missense_Mutation_p.D374H|OS9_ENST00000389142.5_Missense_Mutation_p.D426H|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Missense_Mutation_p.D426H|OS9_ENST00000551035.1_Missense_Mutation_p.D394H NM_001017958.2|NM_006812.3 NP_001017958.1|NP_006803.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin 426 Asp/Glu-rich (acidic). ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) tgaggatgaagatgaggatga 0.542000 6 74 0 0 0.001168 0 0 DCBLD2 131566 broad.mit.edu 37 3 98518364 98518364 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:98518364G>A ENST00000326840.6 - 16 2542 c.2180C>T c.(2179-2181)tCa>tTa p.S727L DCBLD2_ENST00000326857.9_Missense_Mutation_p.S741L NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 727 cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 GGCCTGGGCTGAGGAGCAGCT 0.557000 68 233 0 0 0.003610 0 0 KATNB1 10300 broad.mit.edu 37 16 57786709 57786709 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:57786709G>C ENST00000379661.3 + 10 1116 c.724G>C c.(724-726)Gac>Cac p.D242H NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 242 Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) CTTCAACCCAGACGGCTGCTG 0.657000 4 28 0 0 0.009096 0 0 KPNA1 3836 broad.mit.edu 37 3 122170899 122170899 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:122170899G>C ENST00000344337.6 - 7 753 c.577C>G c.(577-579)Ctt>Gtt p.L193V KPNA1_ENST00000466923.1_5'UTR NM_002264.3 NP_002255.3 P52294 IMA1_HUMAN karyopherin alpha 1 (importin alpha 5) 193 NLS binding site (major) (By similarity). DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) ATGTTGCCAAGAGCCCAGACT 0.398000 42 176 0 0 0.003610 0 0 TNIP3 79931 broad.mit.edu 37 4 122078303 122078303 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:122078303C>T ENST00000454328.1 - 6 536 c.309G>A c.(307-309)caG>caA p.Q103Q TNIP3_ENST00000509841.1_Silent_p.Q180Q|TNIP3_ENST00000507879.1_Silent_p.Q173Q|TNIP3_ENST00000057513.3_Silent_p.Q103Q Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 103 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 CGTCCTCTCTCTGCCTGTCGT 0.642000 111 275 0 0 0.003610 0 0 TAF7L 54457 broad.mit.edu 37 X 100532640 100532640 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chrX:100532640C>G ENST00000372907.3 - 9 914 c.903G>C c.(901-903)ttG>ttC p.L301F TAF7L_ENST00000356784.1_Missense_Mutation_p.L215F|TAF7L_ENST00000324762.6_Missense_Mutation_p.L215F|TAF7L_ENST00000372905.2_Missense_Mutation_p.L215F NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 301 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 CCGAGGATATCAAAAATCCTG 0.468000 20 97 0 0 0.008871 0 0 IL4R 3566 broad.mit.edu 37 16 27375021 27375021 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:27375021C>T ENST00000395762.2 + 11 2607 c.2348C>T c.(2347-2349)tCg>tTg p.S783L IL4R_ENST00000170630.2_Missense_Mutation_p.S783L|IL4R_ENST00000543915.2_Missense_Mutation_p.S783L|IL4R_ENST00000380922.3_Missense_Mutation_p.S768L NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 783 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity p.S783L(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CTGGCACCCTCGGGCATCTCA 0.612000 19 57 0 0 0.010504 0 0 C16orf89 146556 broad.mit.edu 37 16 5112511 5112511 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:5112511G>A ENST00000315997.5 - 2 474 c.273C>T c.(271-273)cgC>cgT p.R91R C16orf89_ENST00000350219.4_Silent_p.R129R|C16orf89_ENST00000474471.3_Silent_p.R91R|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Silent_p.R91R|C16orf89_ENST00000422873.1_Silent_p.R129R NM_152459.4 NP_689672.4 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 91 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 GCATCCCCACGCGCAGGCTCA 0.572000 22 59 0 0 0.002299 0 0 MRPL47 57129 broad.mit.edu 37 3 179306692 179306692 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:179306692G>C ENST00000476781.1 - 7 750 c.721C>G c.(721-723)Ctt>Gtt p.L241V MRPL47_ENST00000392659.2_Missense_Mutation_p.L131V|MRPL47_ENST00000259038.2_Missense_Mutation_p.L221V NM_020409.2 NP_065142.2 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 241 translation mitochondrial ribosome structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1) 11 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) GCTTCAGCAAGATGTGGAAAC 0.343000 13 165 0 0 0.001855 0 0 CEP250 11190 broad.mit.edu 37 20 34054830 34054830 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:34054830C>T ENST00000397527.1 + 8 1252 c.532C>T c.(532-534)Ctc>Ttc p.L178F CEP250_ENST00000397524.1_Missense_Mutation_p.L178F|CEP250_ENST00000342580.4_Missense_Mutation_p.L178F NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 178 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CGGTCGCCTTCTCAGTCTATG 0.532000 17 45 0 0 0.006122 0 0 DFFB 1677 broad.mit.edu 37 1 3782217 3782217 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:3782217C>T ENST00000378212.2 + 3 575 c.252C>T c.(250-252)gtC>gtT p.V84V DFFB_ENST00000338895.3_Intron|DFFB_ENST00000378209.3_Intron O76075 DFFB_HUMAN DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) 0 apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction cytosol|nucleoplasm deoxyribonuclease activity|enzyme binding endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211) Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) CTGTTGGTGTCAGGGCAAGGA 0.597000 5 20 0 0 0.000602 0 0 AHRR 57491 broad.mit.edu 37 5 434023 434023 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:434023C>T ENST00000316418.5 + 12 1278 c.1234C>T c.(1234-1236)Cgg>Tgg p.R412W AHRR_ENST00000506456.1_Missense_Mutation_p.R250W|AHRR_ENST00000505113.1_Missense_Mutation_p.R394W|AHRR_ENST00000512529.1_Missense_Mutation_p.R240W NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) AGTGACAGGGCGGAGGGAGAC 0.632000 5 37 0 0 0.000602 0 0 ZNF671 79891 broad.mit.edu 37 19 58233748 58233748 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:58233748C>A ENST00000317398.6 - 3 419 c.324G>T c.(322-324)tgG>tgT p.W108C ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_3'UTR|ZNF671_ENST00000335820.3_Missense_Mutation_p.W10C|AC003006.7_ENST00000599221.1_Intron NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 108 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGTCATACACCCAGGGCTCTT 0.537000 10 209 7.48243e-07 7.85655e-07 0.006214 1 0 TRIP11 9321 broad.mit.edu 37 14 92470322 92470322 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:92470322C>T ENST00000267622.4 - 11 4371 c.3998G>A c.(3997-3999)aGt>aAt p.S1333N NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1333 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTCAGACTTACTTGCTCTAAG 0.383000 T PDGFRB AML 12 59 0 0 0.001368 0 0 RCC2 55920 broad.mit.edu 37 1 17749292 17749292 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:17749292C>G ENST00000375436.4 - 5 751 c.564G>C c.(562-564)aaG>aaC p.K188N RCC2_ENST00000375433.3_Missense_Mutation_p.K188N NM_018715.3 NP_061185.1 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 188 cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4) 17 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) CTTCTACTCTCTTGGTGTCAC 0.557000 21 68 0 0 0.003954 0 0 STAT4 6775 broad.mit.edu 37 2 191895766 191895766 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:191895766G>A ENST00000392320.2 - 23 2466 c.2152C>T c.(2152-2154)Ctt>Ttt p.L718F AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.L718F NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 718 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GACATGGGAAGAAGGTCTGAT 0.403000 35 146 0 0 0.007835 0 0 ABCA2 20 broad.mit.edu 37 9 139913234 139913234 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:139913234C>T ENST00000265662.5 - 13 1903 c.1756G>A c.(1756-1758)Gag>Aag p.E586K ABCA2_ENST00000371605.3_Missense_Mutation_p.E585K|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Missense_Mutation_p.E586K Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 585 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ATGCTCTCCTCGTCGTGGAAG 0.652000 17 51 0 0 0.004007 0 0 ABCB5 340273 broad.mit.edu 37 7 20739704 20739704 + Silent SNP G G T rs148327292 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:20739704G>T ENST00000404938.2 + 19 2935 c.2283G>T c.(2281-2283)ggG>ggT p.G761G ABCB5_ENST00000258738.6_Silent_p.G316G NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 316 ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GCAGAGCAGGGGAAATTTTAA 0.284000 12 39 0.00244969 0.0025159 0.002450 1 0 NACA 4666 broad.mit.edu 37 12 57110190 57110190 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57110190C>G ENST00000454682.1 - 3 5405 c.5124G>C c.(5122-5124)aaG>aaC p.K1708N NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TAGCAGAACTCTTTTTGGTCT 0.522000 T BCL6 NHL 78 265 0 0 0.003610 0 0 TMEM198 130612 broad.mit.edu 37 2 220412742 220412742 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:220412742C>T ENST00000344458.2 + 4 1266 c.681C>T c.(679-681)ctC>ctT p.L227L TMEM198_ENST00000373883.3_Silent_p.L227L Q66K66 TM198_HUMAN transmembrane protein 198 227 Leu-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGCCCCTGCTCAGCCTGATGG 0.667000 3 12 0 0 0.004672 0 0 HTR2A 3356 broad.mit.edu 37 13 47466711 47466711 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:47466711G>A ENST00000378688.4 - 2 558 c.427C>T c.(427-429)Ctg>Ttg p.L143L HTR2A_ENST00000543956.1_Silent_p.L59L|HTR2A_ENST00000542664.1_Silent_p.L143L P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 143 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TTGCTCGGCAGAGGCCACCGG 0.572000 20 84 0 0 0.010504 0 0 XKR3 150165 broad.mit.edu 37 22 17288751 17288751 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:17288751G>A ENST00000331428.5 - 2 315 c.213C>T c.(211-213)atC>atT p.I71I NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 71 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TAATAAAGCTGATGGTAAATG 0.358000 16 46 0 0 0.004007 0 0 CCDC34 91057 broad.mit.edu 37 11 27384432 27384432 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:27384432C>G ENST00000317945.6 - 1 349 c.310G>C c.(310-312)Gag>Cag p.E104Q CCDC34_ENST00000328697.6_Missense_Mutation_p.E104Q NM_080654.2 NP_542385.1 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 104 p.E104K(1) endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1) 9 ACTTTGGCCTCTGAATCATGG 0.572000 27 81 0 0 0.007291 0 0 FAM135B 51059 broad.mit.edu 37 8 139164359 139164359 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:139164359C>T ENST00000395297.1 - 13 2529 c.2359G>A c.(2359-2361)Gac>Aac p.D787N NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 787 p.D787Y(2)|p.D787N(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGCTTGGTGTCCGCATCTTCA 0.522000 HNSCC(54;0.14) 8 55 0 0 0.003080 0 0 SVOP 55530 broad.mit.edu 37 12 109306418 109306418 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:109306418C>A ENST00000299134.5 - 14 1343 c.1344G>T c.(1342-1344)aaG>aaT p.K448N NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 AGTCCTCGGCCTTTGGTCTCA 0.607000 44 79 6.4771e-29 7.17879e-29 0.010771 1 0 USF2 7392 broad.mit.edu 37 19 35761375 35761375 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:35761375A>G ENST00000222305.3 + 5 492 c.455A>G c.(454-456)aAt>aGt p.N152S USF2_ENST00000595068.1_Missense_Mutation_p.N152S|USF2_ENST00000379134.3_Intron|USF2_ENST00000343550.5_Missense_Mutation_p.N85S|USF2_ENST00000594064.1_Missense_Mutation_p.N150S NM_003367.2 NP_003358.1 Q15853 USF2_HUMAN upstream transcription factor 2, c-fos interacting 152 lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1) 13 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCCTTCAGCAATGGTGGCAGT 0.592000 23 53 0 0 0.003954 0 0 OSBPL9 114883 broad.mit.edu 37 1 52246990 52246990 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:52246990G>A ENST00000371710.3 + 16 1647 c.1465G>A c.(1465-1467)Gat>Aat p.D489N OSBPL9_ENST00000435686.2_Missense_Mutation_p.D306N|OSBPL9_ENST00000462759.1_Missense_Mutation_p.D293N|OSBPL9_ENST00000337809.4_Missense_Mutation_p.D476N|OSBPL9_ENST00000530544.1_Missense_Mutation_p.D390N|OSBPL9_ENST00000447887.1_Missense_Mutation_p.D481N|OSBPL9_ENST00000453295.1_Missense_Mutation_p.D454N|OSBPL9_ENST00000428468.1_Missense_Mutation_p.D471N|OSBPL9_ENST00000531828.1_Missense_Mutation_p.D306N|OSBPL9_ENST00000361556.5_Missense_Mutation_p.D361N|OSBPL9_ENST00000486942.1_Missense_Mutation_p.D293N|OSBPL9_ENST00000371714.1_Missense_Mutation_p.D458N NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 471 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 ATTACCAAATGATACTGAAGA 0.358000 12 22 0 0 0.001855 0 0 ELMO3 79767 broad.mit.edu 37 16 67237075 67237075 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:67237075G>C ENST00000393997.2 + 17 1945 c.1888G>C c.(1888-1890)Gac>Cac p.D630H ELMO3_ENST00000360833.1_Missense_Mutation_p.D613H|ELMO3_ENST00000477898.1_Missense_Mutation_p.D464H NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 577 PH. apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding p.D630N(1) cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GCAGTACGGAGACATGGAGGA 0.647000 10 26 0 0 0.008291 0 0 MAP1LC3C 440738 broad.mit.edu 37 1 242162283 242162283 + Missense_Mutation SNP C C T rs141733716 by1000genomes TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:242162283C>T ENST00000357246.3 - 1 92 c.28G>A c.(28-30)Gtc>Atc p.V10I NM_001004343.2 NP_001004343.1 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 gamma 10 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(106;0.0188) AAGGGTCTGACGCTTGGGATT 0.458000 OREG0014354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 61 0 0 0.010504 0 0 UACA 55075 broad.mit.edu 37 15 70959538 70959538 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:70959538G>C ENST00000322954.6 - 16 3670 c.3485C>G c.(3484-3486)tCt>tGt p.S1162C UACA_ENST00000560441.1_Missense_Mutation_p.S1147C|UACA_ENST00000539319.1_Missense_Mutation_p.S1053C|UACA_ENST00000379983.2_Missense_Mutation_p.S1149C NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 1162 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 GGGTACAGAAGAGTTCTTTTG 0.398000 64 134 0 0 0.003610 0 0 LSM14B 149986 broad.mit.edu 37 20 60706468 60706468 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:60706468G>A ENST00000253001.4 + 7 1098 c.892G>A c.(892-894)Gaa>Aaa p.E298K LSM14B_ENST00000279068.6_Missense_Mutation_p.E298K Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 298 multicellular organismal development|regulation of translation ribonucleoprotein complex endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CCAGAGTGCCGAAGCGCCCGC 0.537000 7 27 0 0 0.003080 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884017 24884017 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr14:24884017C>G ENST00000382554.3 + 9 3380 c.3062C>G c.(3061-3063)tCt>tGt p.S1021C NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1021 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GACCTTGACTCTTCGCTGGCG 0.607000 22 35 0 0 0.002299 0 0 MALAT1 378938 broad.mit.edu 37 11 65272416 65272416 + RNA SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65272416C>G ENST00000534336.1 + 0 7184 NR_002819.2 ACCACTAGTTCTTTCAGATGG 0.378000 3 17 0 0 0.009096 0 0 CHRNA3 1136 broad.mit.edu 37 15 78894511 78894511 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:78894511G>T ENST00000326828.5 - 5 857 c.473C>A c.(472-474)tCc>tAc p.S158Y CHRNA3_ENST00000348639.3_Missense_Mutation_p.S158Y NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 158 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GATTTTACAGGAGCTCTTAAA 0.493000 6 93 3.59834e-05 3.73403e-05 0.001168 1 0 FCRL4 83417 broad.mit.edu 37 1 157556066 157556066 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:157556066C>G ENST00000271532.1 - 6 1162 c.1027G>C c.(1027-1029)Gag>Cag p.E343Q FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 343 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) AGCTCCAGCTCTGCTCTCAGG 0.582000 24 70 0 0 0.002299 0 0 RNF145 153830 broad.mit.edu 37 5 158585719 158585719 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:158585719G>A ENST00000424310.2 - 11 2310 c.1951C>T c.(1951-1953)Cac>Tac p.H651Y RNF145_ENST00000518802.1_Missense_Mutation_p.H681Y|RNF145_ENST00000521606.2_Missense_Mutation_p.H668Y|RNF145_ENST00000274542.2_Missense_Mutation_p.H679Y|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000519865.1_Missense_Mutation_p.H651Y|RNF145_ENST00000520638.1_Missense_Mutation_p.H665Y NM_001199383.1 NP_001186312.1 Q96MT1 RN145_HUMAN ring finger protein 145 651 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCGCACTGTGAGGATATTCT 0.473000 34 159 0 0 0.003271 0 0 OR8S1 341568 broad.mit.edu 37 12 48920205 48920205 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:48920205C>T ENST00000310194.1 + 1 791 c.791C>T c.(790-792)tCa>tTa p.S264L OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 ATGCCAAACTCAGGTTCCCCC 0.498000 24 72 0 0 0.003330 0 0 VPS13B 157680 broad.mit.edu 37 8 100866028 100866028 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:100866028G>A ENST00000358544.2 + 56 10597 c.10486G>A c.(10486-10488)Gaa>Aaa p.E3496K VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E3471K NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3496 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGAGTTGGAAGAATACAAGGA 0.383000 23 63 0 0 0.012319 0 0 ESRRA 2101 broad.mit.edu 37 11 64082296 64082296 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:64082296G>A ENST00000405666.1 + 5 889 c.655G>A c.(655-657)Gat>Aat p.D219N ESRRA_ENST00000000442.6_Missense_Mutation_p.D219N|ESRRA_ENST00000406310.1_Missense_Mutation_p.D218N P11474 ERR1_HUMAN estrogen-related receptor alpha 219 Ligand binding domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(8) 14 CGCAGGCCCTGATGGGCACCT 0.587000 17 50 0 0 0.004990 0 0 AC010547.9 0 broad.mit.edu 37 16 71512138 71512138 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:71512138G>A ENST00000561908.1 - 5 769 c.267C>T c.(265-267)gtC>gtT p.V89V ZNF19_ENST00000567225.1_Silent_p.V89V|ZNF19_ENST00000565100.2_Silent_p.V19V|ZNF19_ENST00000564230.1_Silent_p.V89V|ZNF19_ENST00000565637.1_Silent_p.V47V|ZNF19_ENST00000288177.5_Silent_p.V89V TACCTTTACAGACGTTTTTGG 0.448000 8 34 0 0 0.004482 0 0 GRIA2 2891 broad.mit.edu 37 4 158224904 158224904 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:158224904C>A ENST00000296526.7 + 3 755 c.430C>A c.(430-432)Caa>Aaa p.Q144K GRIA2_ENST00000264426.9_Missense_Mutation_p.Q144K|GRIA2_ENST00000449365.1_Missense_Mutation_p.Q97K|GRIA2_ENST00000507898.1_Missense_Mutation_p.Q97K|GRIA2_ENST00000393815.2_Missense_Mutation_p.Q97K NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 144 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TGAATACTATCAATGGGACAA 0.443000 33 106 1.08312e-15 1.18078e-15 0.009535 1 0 C16orf72 29035 broad.mit.edu 37 16 9210763 9210763 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:9210763G>A ENST00000327827.7 + 4 1219 c.822G>A c.(820-822)atG>atA p.M274I NM_014117.2 NP_054836.2 Q14CZ0 CP072_HUMAN chromosome 16 open reading frame 72 274 endometrium(4)|large_intestine(2)|lung(2) 8 GCAACAGAATGATCTAAACTG 0.448000 14 90 0 0 0.003163 0 0 NFATC2 4773 broad.mit.edu 37 20 50140540 50140540 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr20:50140540G>A ENST00000371564.3 - 2 459 c.240C>T c.(238-240)ggC>ggT p.G80G NFATC2_ENST00000414705.1_Silent_p.G60G|NFATC2_ENST00000396009.3_Silent_p.G80G NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 80 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CGGGGGGCTCGCCAGAGAGAC 0.657000 22 75 0 0 0.012319 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48185361 48185361 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:48185361C>T ENST00000396720.3 + 7 2429 c.2235C>T c.(2233-2235)ctC>ctT p.L745L CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 745 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GAGCTGGCCTCGGCCCTCAGG 0.741000 3 7 0 0 0.004672 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125879726 125879726 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:125879726G>C ENST00000393434.2 - 2 446 c.97C>G c.(97-99)Cca>Gca p.P33A ALDH1L1_ENST00000273450.3_Missense_Mutation_p.P43A|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.P33A|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.P33A|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.P33A NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 33 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TCCTTGTCTGGAACAGTGAAC 0.572000 15 117 0 0 0.003163 0 0 PARD3B 117583 broad.mit.edu 37 2 206166459 206166459 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:206166459C>T ENST00000462231.1 + 18 2824 c.2664C>T c.(2662-2664)ctC>ctT p.L888L PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000406610.2_Intron|PARD3B_ENST00000351153.1_Intron Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 0 Lys-rich. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) AGTTGGTTCTCATTTTGTCTC 0.458000 15 40 0 0 0.004007 0 0 TUBA8 51807 broad.mit.edu 37 22 18604405 18604405 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:18604405G>A ENST00000330423.3 + 2 236 c.163G>A c.(163-165)Gag>Aag p.E55K TUBA8_ENST00000316027.6_5'UTR NM_018943.2 NP_061816.1 Q9NY65 TBA8_HUMAN tubulin, alpha 8 55 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 CTTTTTCAGCGAGACTGGCAA 0.557000 9 56 0 0 0.004482 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959218 45959218 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:45959218G>A ENST00000400375.1 - 1 860 c.816C>T c.(814-816)ctC>ctT p.L272L TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 272 keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 CGGGGCGGCAGAGGAGGGACA 0.726000 12 22 0 0 0.010729 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555807 155555807 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:155555807G>A ENST00000295101.2 + 1 997 c.520G>A c.(520-522)Gcc>Acc p.A174T KCNJ3_ENST00000544049.1_Missense_Mutation_p.A174T NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 174 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CATCGTGGACGCCTTCCTCAT 0.597000 13 49 0 0 0.001855 0 0 PPP6R2 9701 broad.mit.edu 37 22 50845240 50845240 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr22:50845240A>G ENST00000359139.3 + 4 744 c.350A>G c.(349-351)aAt>aGt p.N117S PPP6R2_ENST00000216061.5_Missense_Mutation_p.N117S|PPP6R2_ENST00000395741.3_Missense_Mutation_p.N117S|PPP6R2_ENST00000395744.3_Missense_Mutation_p.N117S NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 117 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CCGCCTCTCAATCCTCTGCTC 0.547000 88 257 0 0 0.003610 0 0 MAMDC4 158056 broad.mit.edu 37 9 139749723 139749723 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:139749723G>A ENST00000445819.1 + 11 1265 c.1215G>A c.(1213-1215)caG>caA p.Q405Q MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.Q405Q Q6UXC1 AEGP_HUMAN MAM domain containing 4 405 MAM 2. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TGGCCGGGCAGACAGGCCCGG 0.672000 21 22 0 0 0.012319 0 0 MYLIP 29116 broad.mit.edu 37 6 16141928 16141928 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:16141928G>T ENST00000356840.3 + 3 549 c.351G>T c.(349-351)gtG>gtT p.V117V MYLIP_ENST00000349606.4_5'UTR NM_013262.3 NP_037394.2 Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting protein 117 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) AGCAGGCAGTGGAACTCAGTG 0.527000 9 70 3.09899e-07 3.26252e-07 0.004482 1 0 UHMK1 127933 broad.mit.edu 37 1 162470803 162470803 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr1:162470803C>T ENST00000489294.1 + 3 820 c.662C>T c.(661-663)tCa>tTa p.S221L UHMK1_ENST00000545294.1_Missense_Mutation_p.S147L|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.S221L NM_175866.4 NP_787062.1 Q8TAS1 UHMK1_HUMAN U2AF homology motif (UHM) kinase 1 221 Protein kinase. cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 11 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) GAATGTACCTCAGCTGTTGAT 0.443000 6 39 0 0 0.001984 0 0 FAM135B 51059 broad.mit.edu 37 8 139164976 139164976 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:139164976G>C ENST00000395297.1 - 13 1912 c.1742C>G c.(1741-1743)tCt>tGt p.S581C NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 581 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTTATCTCTAGAGCTCCTACT 0.478000 HNSCC(54;0.14) 34 95 0 0 0.002836 0 0 BLOC1S3 388552 broad.mit.edu 37 19 45683082 45683082 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:45683082C>G ENST00000433642.2 + 2 624 c.528C>G c.(526-528)atC>atG p.I176M AC005779.2_ENST00000593083.1_Missense_Mutation_p.I1M|BLOC1S3_ENST00000587722.1_Missense_Mutation_p.I176M NM_212550.3 NP_997715.1 Q6QNY0 BL1S3_HUMAN biogenesis of lysosomal organelles complex-1, subunit 3 176 cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport BLOC-1 complex identical protein binding ovary(1)|skin(1) 2 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) GTCTGGACATCGTGGCTGGCT 0.726000 Hermansky-Pudlak syndrome 9 22 0 0 0.004482 0 0 GREB1 9687 broad.mit.edu 37 2 11774361 11774361 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr2:11774361G>T ENST00000381486.2 + 29 5396 c.5096G>T c.(5095-5097)tGg>tTg p.W1699L GREB1_ENST00000396123.1_Missense_Mutation_p.W697L|GREB1_ENST00000234142.5_Missense_Mutation_p.W1699L NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1699 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CTGCGGAAGTGGTCCAGCAAG 0.607000 16 64 6.31663e-08 6.67638e-08 0.003163 1 0 GPR98 84059 broad.mit.edu 37 5 90074289 90074289 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr5:90074289C>T ENST00000405460.2 + 63 12808 c.12712C>T c.(12712-12714)Cag>Tag p.Q4238* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4238 Calx-beta 28. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTATGAGTTTCAGCTCACTGC 0.468000 7 20 0 0 0.001984 0 0 TIAM1 7074 broad.mit.edu 37 21 32493057 32493057 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr21:32493057T>C ENST00000286827.3 - 29 4876 c.4405A>G c.(4405-4407)Aaa>Gaa p.K1469E TIAM1_ENST00000541036.1_Missense_Mutation_p.K1409E NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1469 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TGGGACTCTTTCTCCGGGCTG 0.577000 3 58 0 0 0.004672 0 0 THAP1 55145 broad.mit.edu 37 8 42693174 42693174 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr8:42693174G>A ENST00000254250.3 - 3 803 c.573C>T c.(571-573)gaC>gaT p.D191D THAP1_ENST00000345117.2_3'UTR NM_018105.2 NP_060575.1 Q9NVV9 THAP1_HUMAN THAP domain containing, apoptosis associated protein 1 191 cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body sequence-specific DNA binding|zinc ion binding NS(1)|lung(4)|prostate(1)|skin(1) 7 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869) CTGATACGTCGTCTTTCTCTT 0.388000 24 87 0 0 0.003330 0 0 DNAH1 25981 broad.mit.edu 37 3 52382931 52382931 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:52382931G>A ENST00000420323.2 + 13 2395 c.2134G>A c.(2134-2136)Ggt>Agt p.G712S NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 712 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTTCATCAGCGGTGACCCCCT 0.617000 6 78 0 0 0.001984 0 0 PTPRD 5789 broad.mit.edu 37 9 8524994 8524994 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:8524994T>C ENST00000381196.4 - 15 1153 c.610A>G c.(610-612)Aaa>Gaa p.K204E PTPRD_ENST00000397617.3_Missense_Mutation_p.K198E|PTPRD_ENST00000358503.5_Missense_Mutation_p.K195E|PTPRD_ENST00000540109.1_Missense_Mutation_p.K204E|PTPRD_ENST00000360074.4_Missense_Mutation_p.K195E|PTPRD_ENST00000486161.1_Missense_Mutation_p.K204E|PTPRD_ENST00000537002.1_Missense_Mutation_p.K201E|PTPRD_ENST00000356435.5_Missense_Mutation_p.K204E|PTPRD_ENST00000355233.5_Missense_Mutation_p.K204E|PTPRD_ENST00000397606.3_Missense_Mutation_p.K198E|PTPRD_ENST00000397611.3_Missense_Mutation_p.K201E NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 204 Ig-like C2-type 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CACTCATATTTTCCTTGGTCA 0.458000 TSP Lung(15;0.13) 49 135 0 0 0.003610 0 0 MALAT1 378938 broad.mit.edu 37 11 65272480 65272480 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65272480G>A ENST00000534336.1 + 0 7248 NR_002819.2 TGGACAAAATGAGGAAAACAG 0.368000 10 26 0 0 0.008291 0 0 PLCH1 23007 broad.mit.edu 37 3 155200497 155200497 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr3:155200497C>T ENST00000460012.1 - 23 3585 c.3228G>A c.(3226-3228)gaG>gaA p.E1076E PLCH1_ENST00000414191.1_Silent_p.E1076E|PLCH1_ENST00000340059.7_Silent_p.E1114E|PLCH1_ENST00000334686.6_Silent_p.E1076E|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1114 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCACAAAGTCCTCAGGATTAC 0.478000 28 112 0 0 0.004656 0 0 MALAT1 378938 broad.mit.edu 37 11 65272556 65272556 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:65272556G>A ENST00000534336.1 + 0 7324 NR_002819.2 GTATTGAATAGATTTCAGCTT 0.413000 17 45 0 0 0.004990 0 0 PPP1R18 170954 broad.mit.edu 37 6 30647097 30647097 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:30647097C>G ENST00000274853.3 - 2 3557 c.1681G>C c.(1681-1683)Gag>Cag p.E561Q PPP1R18_ENST00000399199.3_Missense_Mutation_p.E561Q|PPP1R18_ENST00000488324.1_5'UTR NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 561 cytoplasm|cytoskeleton actin binding CCCAGCTCCTCCAGTACCGAA 0.627000 24 46 0 0 0.003954 0 0 ZNF76 7629 broad.mit.edu 37 6 35260660 35260660 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:35260660G>T ENST00000373953.3 + 11 1434 c.1168G>T c.(1168-1170)Gcc>Tcc p.A390S ZNF76_ENST00000440666.2_Missense_Mutation_p.A364S|ZNF76_ENST00000339411.5_Missense_Mutation_p.A390S NM_003427.3 NP_003418.2 P36508 ZNF76_HUMAN zinc finger protein 76 390 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 TCTCCCAGCCGCCTCTGCAGC 0.617000 9 88 2.74318e-10 2.93833e-10 0.006214 1 0 KIAA1549 57670 broad.mit.edu 37 7 138603406 138603406 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:138603406G>A ENST00000440172.1 - 2 1014 c.966C>T c.(964-966)taC>taT p.Y322Y KIAA1549_ENST00000242365.4_Silent_p.Y272Y|KIAA1549_ENST00000422774.1_Silent_p.Y322Y NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 322 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TCACATCAGTGTATCTGTCTG 0.542000 O BRAF pilocytic astrocytoma 36 48 0 0 0.003755 0 0 TAOK2 9344 broad.mit.edu 37 16 29994909 29994909 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr16:29994909C>T ENST00000308893.4 + 13 2389 c.1346C>T c.(1345-1347)tCc>tTc p.S449F TAOK2_ENST00000416441.2_Missense_Mutation_p.S276F|TAOK2_ENST00000279394.3_Missense_Mutation_p.S449F|TAOK2_ENST00000543033.1_Missense_Mutation_p.S449F NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 449 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GCTCCCACTTCCACCACCTCT 0.622000 9 466 0 0 0.004482 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49967126 49967126 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:49967126G>A ENST00000293350.4 + 9 1277 c.1114G>A c.(1114-1116)Gat>Aat p.D372N ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D321N|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.D209N|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.D207N|CTD-3148I10.9_ENST00000599536.1_Silent_p.*7* NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 372 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CCAGGCTGGTGATGTGCCTTC 0.602000 49 221 0 0 0.003610 0 0 PRDM11 56981 broad.mit.edu 37 11 45241256 45241256 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:45241256G>A ENST00000263765.4 + 7 1041 c.792G>A c.(790-792)atG>atA p.M264I CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.M264I|PRDM11_ENST00000424263.2_Missense_Mutation_p.M230I|PRDM11_ENST00000528980.1_3'UTR Q9NQV5 PRD11_HUMAN PR domain containing 11 264 SET. endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 AGGACTACATGAAGCGCCTGC 0.637000 13 31 0 0 0.001368 0 0 C12orf57 113246 broad.mit.edu 37 12 7054986 7054986 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:7054986G>A ENST00000537087.1 + 3 483 c.195G>A c.(193-195)gaG>gaA p.E65E C12orf57_ENST00000542222.1_3'UTR|C12orf57_ENST00000540506.2_Silent_p.E59E|C12orf57_ENST00000229281.5_Silent_p.E94E Q99622 C10_HUMAN chromosome 12 open reading frame 57 94 kidney(1)|large_intestine(1) 2 AGGATCCTGAGATCGCCAGCC 0.617000 8 26 0 0 0.003080 0 0 NACA 4666 broad.mit.edu 37 12 57108149 57108149 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57108149C>A ENST00000454682.1 - 5 6101 c.5820G>T c.(5818-5820)cgG>cgT p.R1940R NACA_ENST00000356769.3_Silent_p.R77R|NACA_ENST00000546392.1_Silent_p.R77R|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000550952.1_Silent_p.R787R|NACA_ENST00000552540.1_Silent_p.R77R|NACA_ENST00000393891.4_Silent_p.R77R|NACA_ENST00000548563.1_5'UTR NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 77 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 ATCTTACCTTCCGTGCCTTCT 0.398000 T BCL6 NHL 10 47 4.68919e-08 4.96942e-08 0.008291 1 0 ABCA2 20 broad.mit.edu 37 9 139910547 139910547 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr9:139910547C>T ENST00000265662.5 - 22 3331 c.3184G>A c.(3184-3186)Gag>Aag p.E1062K ABCA2_ENST00000371605.3_Missense_Mutation_p.E1061K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E1062K Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1061 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TTGCGGATCTCATCCATCTCC 0.612000 31 63 0 0 0.003271 0 0 SLTM 79811 broad.mit.edu 37 15 59181735 59181735 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr15:59181735C>T ENST00000380516.2 - 16 2185 c.2098G>A c.(2098-2100)Gaa>Aaa p.E700K SLTM_ENST00000536328.1_Missense_Mutation_p.E269K NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 700 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCAATCCGTTCAGCTTCCTTA 0.408000 14 23 0 0 0.001855 0 0 NACA 4666 broad.mit.edu 37 12 57112459 57112459 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr12:57112459C>T ENST00000454682.1 - 3 3136 c.2855G>A c.(2854-2856)gGa>gAa p.G952E NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 AGCTGGGCCTCCTTTAGGGGA 0.642000 T BCL6 NHL 18 53 0 0 0.006122 0 0 LOC494141 494141 broad.mit.edu 37 11 18231217 18231217 + Translation_Start_Site SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:18231217G>T ENST00000527059.1 + 1 463 c.3G>T c.(1-3)atG>atT p.M1I RP11-113D6.10_ENST00000340135.3_Start_Codon_SNP_p.M1I|RP11-113D6.10_ENST00000534640.1_Start_Codon_SNP_p.M1I AGTCCTTCATGAAAAAAGAAG 0.333000 9 16 1.12685e-05 1.17239e-05 0.004482 1 0 ARID4B 51742 broad.mit.edu 37 1 235345584 235345584 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:235345584C>A ENST00000264183.3 - 20 3147 c.2650G>T c.(2650-2652)Gaa>Taa p.E884* ARID4B_ENST00000349213.3_Nonsense_Mutation_p.E798*|ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E884* NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 884 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TTTCTTTTTTCCTCCAAACCA 0.343000 7 101 0.00307968 0.00315538 0.003080 1 0 GRAMD1A 57655 broad.mit.edu 37 19 35502416 35502416 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:35502416C>T ENST00000599564.1 + 8 896 c.825C>T c.(823-825)ttC>ttT p.F275F GRAMD1A_ENST00000411896.2_Silent_p.F181F|GRAMD1A_ENST00000317991.5_Silent_p.F188F|GRAMD1A_ENST00000504615.2_5'UTR Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 188 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ACCGCTGCTTCCTCCTCATCT 0.617000 11 129 0 0 0.002450 0 0 SDHAP1 255812 broad.mit.edu 37 3 195698269 195698269 + RNA SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:195698269G>C ENST00000427841.1 - 0 1603 NR_003264.2 CAACATTCGTGACAGATTCTT 0.398000 7 71 0 0 0.003080 0 0 IMPA2 3613 broad.mit.edu 37 18 12028874 12028874 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr18:12028874C>T ENST00000269159.3 + 7 875 c.633C>T c.(631-633)ctC>ctT p.L211L IMPA2_ENST00000589238.1_Silent_p.L22L|IMPA2_ENST00000588927.1_Silent_p.L22L NM_014214.2 NP_055029.1 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 211 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1) 12 Lithium(DB01356) CATTGGCACTCTGCCACCTGG 0.617000 42 63 0 0 0.010771 0 0 RIPK1 8737 broad.mit.edu 37 6 3081283 3081283 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:3081283G>C ENST00000259808.4 + 4 690 c.392G>C c.(391-393)gGa>gCa p.G131A RIPK1_ENST00000380409.2_Missense_Mutation_p.G131A|RIPK1_ENST00000541791.1_Intron|RIPK1_ENST00000479389.1_3'UTR Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 131 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) TACTTACATGGAAAAGGCGTG 0.368000 13 42 0 0 0.001368 0 0 FLG2 388698 broad.mit.edu 37 1 152323370 152323370 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:152323370G>A ENST00000388718.5 - 3 6964 c.6892C>T c.(6892-6894)Cat>Tat p.H2298Y FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2298 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCTGTCCATGAGTAGTTTCC 0.483000 25 313 0 0 0.002780 0 0 MALAT1 378938 broad.mit.edu 37 11 65272924 65272924 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65272924G>A ENST00000534336.1 + 0 7692 NR_002819.2 AATCTCAAGCGGTGCTTGAAG 0.463000 15 70 0 0 0.008871 0 0 WDR31 114987 broad.mit.edu 37 9 116083793 116083793 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:116083793G>A ENST00000374193.4 - 8 882 c.636C>T c.(634-636)ctC>ctT p.L212L WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Silent_p.L87L|WDR31_ENST00000341761.4_Silent_p.L211L NM_001012361.2|NM_145241.3 NP_001012361.1|NP_660284.1 Q8NA23 WDR31_HUMAN WD repeat domain 31 212 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 AAGCCCACCTGAGGGTTTTAT 0.478000 13 26 0 0 0.002450 0 0 ACIN1 22985 broad.mit.edu 37 14 23549752 23549752 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:23549752C>G ENST00000262710.1 - 6 1293 c.966G>C c.(964-966)gaG>gaC p.E322D ACIN1_ENST00000555053.1_Missense_Mutation_p.E322D|ACIN1_ENST00000605057.1_Missense_Mutation_p.E264D|ACIN1_ENST00000457657.1_Missense_Mutation_p.E282D NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 322 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TTTTGGGTCTCTCATCCATCA 0.463000 30 83 0 0 0.007291 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104245125 104245125 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:104245125C>G ENST00000202556.9 - 4 593 c.311G>C c.(310-312)aGa>aCa p.R104T NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 104 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) TATTACATTTCTCTGAGTTCG 0.363000 17 42 0 0 0.006122 0 0 IGSF21 84966 broad.mit.edu 37 1 18703351 18703351 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:18703351G>A ENST00000251296.1 + 8 1542 c.1159G>A c.(1159-1161)Gac>Aac p.D387N IGSF21_ENST00000473951.1_3'UTR NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 387 Ig-like 2. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCGCCTCCTGGACGGCAGCGC 0.657000 20 43 0 0 0.007413 0 0 OR4D2 124538 broad.mit.edu 37 17 56247319 56247319 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:56247319C>G ENST00000545221.1 + 1 303 c.303C>G c.(301-303)atC>atG p.I101M NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 TGGGTCAGATCTTCTTCTTCC 0.527000 10 121 0 0 0.006214 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709486 31709486 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:31709486G>A ENST00000382835.2 - 1 526 c.501C>T c.(499-501)aaC>aaT p.N167N NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 167 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 TGGATTCAGGGTTCTGAGACT 0.478000 31 78 0 0 0.010818 0 0 TTL 150465 broad.mit.edu 37 2 113258890 113258890 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:113258890G>C ENST00000233336.5 + 4 768 c.577G>C c.(577-579)Gag>Cag p.E193Q NM_153712.4 NP_714923.1 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 193 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity breast(1)|large_intestine(2)|ovary(1) 4 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) TCTGCTGCTTGAGCCAGGTCA 0.463000 T ETV6 ALL 13 49 0 0 0.001368 0 0 SETD5 55209 broad.mit.edu 37 3 9517533 9517533 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:9517533C>T ENST00000402466.1 + 24 4561 c.3793C>T c.(3793-3795)Cag>Tag p.Q1265* SETD5_ENST00000402198.1_Nonsense_Mutation_p.Q1363*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.Q1382*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.Q1265*|SETD5_ENST00000406341.1_Nonsense_Mutation_p.Q1363* Q9C0A6 SETD5_HUMAN SET domain containing 5 1363 Ser-rich. NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) TTCAGTTTCTCAGTCCAGCAC 0.552000 19 22 0 0 0.008871 0 0 C4orf45 152940 broad.mit.edu 37 4 159836377 159836377 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:159836377G>A ENST00000434826.2 - 4 575 c.491C>T c.(490-492)tCa>tTa p.S164L C4orf45_ENST00000508011.1_5'UTR NM_152543.2 NP_689756.2 Q96LM5 CD045_HUMAN chromosome 4 open reading frame 45 164 large_intestine(2)|lung(3) 5 TCTTGGCAATGATGACTTACA 0.423000 12 24 0 0 0.001855 0 0 SELO 83642 broad.mit.edu 37 22 50654234 50654234 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:50654234G>A ENST00000380903.2 + 6 1498 c.1440G>A c.(1438-1440)ctG>ctA p.L480L RP3-402G11.5_ENST00000492092.1_3'UTR NM_031454.1 NP_113642.1 TGGCCAGGCTGATGGAGCAGT 0.587000 31 63 0 0 0.007291 0 0 NEB 4703 broad.mit.edu 37 2 152381070 152381070 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:152381070C>G ENST00000397345.3 - 152 22535 c.22333G>C c.(22333-22335)Gac>Cac p.D7445H NEB_ENST00000604864.1_Missense_Mutation_p.D7445H|NEB_ENST00000603639.1_Missense_Mutation_p.D7445H|NEB_ENST00000409198.1_Missense_Mutation_p.D5744H|NEB_ENST00000427231.2_Missense_Mutation_p.D7445H|NEB_ENST00000172853.10_Missense_Mutation_p.D5744H NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5744 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCTTGATGTCTGGTCGATCA 0.502000 49 146 0 0 0.003610 0 0 MIB1 57534 broad.mit.edu 37 18 19429231 19429231 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr18:19429231C>G ENST00000261537.6 + 17 2732 c.2468C>G c.(2467-2469)tCa>tGa p.S823* MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 823 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) ATGGTGTGCTCAGATATGAAG 0.378000 50 127 0 0 0.003610 0 0 PACSIN2 11252 broad.mit.edu 37 22 43272287 43272287 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:43272287C>G ENST00000263246.3 - 10 1405 c.1204G>C c.(1204-1206)Gag>Cag p.E402Q PACSIN2_ENST00000403744.3_Missense_Mutation_p.E402Q|PACSIN2_ENST00000407585.1_Missense_Mutation_p.E361Q|PACSIN2_ENST00000402229.1_Missense_Mutation_p.E402Q|PACSIN2_ENST00000337959.4_Missense_Mutation_p.E361Q|PACSIN2_ENST00000496919.1_5'UTR NM_001184970.1 NP_001171899.1 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in neurons 2 402 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) TTGTTAGACTCATCGTCTGAC 0.617000 14 51 0 0 0.003163 0 0 CDH13 1012 broad.mit.edu 37 16 83636065 83636065 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:83636065G>C ENST00000566620.1 + 8 1257 c.967G>C c.(967-969)Gaa>Caa p.E323Q CDH13_ENST00000268613.10_Missense_Mutation_p.E370Q|CDH13_ENST00000428848.3_Missense_Mutation_p.E284Q NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 323 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GTAGACTCTGGAAAATCCCAA 0.463000 67 241 0 0 0.003610 0 0 LRRC37B 114659 broad.mit.edu 37 17 30376383 30376383 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:30376383G>C ENST00000327564.7 + 10 2788 c.2727G>C c.(2725-2727)caG>caC p.Q909H LRRC37B_ENST00000394713.3_Missense_Mutation_p.Q831H|LRRC37B_ENST00000584368.1_Missense_Mutation_p.Q843H|LRRC37B_ENST00000543378.2_Missense_Mutation_p.Q800H|LRRC37B_ENST00000341671.7_Missense_Mutation_p.Q882H Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 882 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) ACATGGAACAGAATGAACAGA 0.433000 4 9 0 0 0.009096 0 0 FCGR2A 2212 broad.mit.edu 37 1 161476260 161476260 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:161476260C>G ENST00000271450.6 + 3 281 c.243C>G c.(241-243)ctC>ctG p.L81L FCGR2A_ENST00000367972.4_Silent_p.L80L|FCGR2A_ENST00000467525.1_3'UTR NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 81 Ig-like C2-type 1. integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATGGGAATCTCATTCCCACCC 0.597000 13 75 0 0 0.006122 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662840 662840 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:662840G>A ENST00000266383.5 + 14 1764 c.1751G>A c.(1750-1752)gGa>gAa p.G584E NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 584 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CAGGCCCCTGGAAGGGGCTGG 0.642000 9 36 0 0 0.008291 0 0 USPL1 10208 broad.mit.edu 37 13 31232715 31232715 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr13:31232715C>T ENST00000255304.4 + 9 2843 c.2501C>T c.(2500-2502)tCg>tTg p.S834L NM_005800.4 NP_005791.3 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 834 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) GGCCCTCCATCGTCTAATGGC 0.507000 17 70 0 0 0.006122 0 0 CCNG2 901 broad.mit.edu 37 4 78079754 78079754 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:78079754C>G ENST00000316355.5 + 2 425 c.69C>G c.(67-69)gtC>gtG p.V23V CCNG2_ENST00000395640.1_Silent_p.V23V|CCNG2_ENST00000502280.1_Silent_p.V23V|CCNG2_ENST00000354403.5_Silent_p.V23V|CCNG2_ENST00000509972.1_Silent_p.V23V|CCNG2_ENST00000497512.1_3'UTR NM_004354.2 NP_004345.1 Q16589 CCNG2_HUMAN cyclin G2 23 cell cycle checkpoint|cell division|mitosis cytoplasm breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 TGTTGAACGTCTACCTGGAAC 0.478000 28 87 0 0 0.005443 0 0 BID 637 broad.mit.edu 37 22 18220787 18220787 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:18220787C>T ENST00000317361.7 - 5 1036 c.710G>A c.(709-711)aGa>aAa p.R237K BID_ENST00000399774.3_Missense_Mutation_p.R191K|BID_ENST00000342111.5_3'UTR|BID_ENST00000399765.1_Missense_Mutation_p.R95K|BID_ENST00000551952.1_Missense_Mutation_p.R191K|BID_ENST00000399767.1_Missense_Mutation_p.R95K NM_197966.2 NP_932070.1 P55957 BID_HUMAN BH3 interacting domain death agonist 191 activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria cytosol|membrane fraction|mitochondrial outer membrane death receptor binding p.R237K(1) large_intestine(2)|ovary(1) 3 all_epithelial(15;0.198) Lung(27;0.0419) TCTTACATTTCTGGCTAAGCT 0.552000 24 66 0 0 0.002780 0 0 LILRA6 79168 broad.mit.edu 37 19 54744933 54744933 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:54744933G>A ENST00000440558.2 - 5 777 c.729C>T c.(727-729)ctC>ctT p.L243L LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000396365.2_Silent_p.L243L|LILRA6_ENST00000245621.5_Silent_p.L243L|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Silent_p.L243L leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 p.L243L(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGCCACACTGGAGGGTCAGGC 0.637000 13 95 0 0 0.003163 0 0 ZNF766 90321 broad.mit.edu 37 19 52793884 52793884 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:52793884C>T ENST00000439461.1 + 4 883 c.840C>T c.(838-840)ttC>ttT p.F280F ZNF766_ENST00000359102.4_Silent_p.F295F|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Silent_p.F295F|CTD-2525I3.5_ENST00000594865.1_RNA NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) GCAAGGTCTTCAGTCGAATTA 0.403000 7 24 0 0 0.001984 0 0 FLG 2312 broad.mit.edu 37 1 152283709 152283709 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:152283709C>G ENST00000368799.1 - 3 3688 c.3653G>C c.(3652-3654)aGa>aCa p.R1218T FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1218 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACGAGTTTGTCTGCTTGCACT 0.552000 Ichthyosis 126 378 0 0 0.003610 0 0 ZNF608 57507 broad.mit.edu 37 5 123984351 123984351 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:123984351G>A ENST00000306315.5 - 4 2161 c.1726C>T c.(1726-1728)Cat>Tat p.H576Y ZNF608_ENST00000504926.1_Missense_Mutation_p.H149Y NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 576 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) AAGTGTGCATGAGCCTGGTGG 0.493000 28 89 0 0 0.006320 0 0 ODAM 54959 broad.mit.edu 37 4 71068032 71068032 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:71068032G>A ENST00000396094.2 + 8 682 c.634G>A c.(634-636)Gaa>Aaa p.E212K NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 212 biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 CACAGCTCCTGAAATTGCTGT 0.373000 12 34 0 0 0.001855 0 0 TMEM108 66000 broad.mit.edu 37 3 133109176 133109176 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:133109176G>A ENST00000321871.6 + 5 1813 c.1603G>A c.(1603-1605)Gag>Aag p.E535K TMEM108_ENST00000508711.1_Missense_Mutation_p.E65K|TMEM108_ENST00000393130.3_Missense_Mutation_p.E535K NM_001136469.1|NM_023943.2 NP_001129941.1|NP_076432.1 Q6UXF1 TM108_HUMAN transmembrane protein 108 535 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TGAAACCTCTGAGGTAATGAG 0.532000 43 227 0 0 0.008740 0 0 GBA2 57704 broad.mit.edu 37 9 35737182 35737182 + Missense_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:35737182T>A ENST00000378103.3 - 17 3291 c.2768A>T c.(2767-2769)aAc>aTc p.N923I GBA2_ENST00000378088.1_3'UTR|GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.N929I NM_020944.2 NP_065995.1 Q9HCG7 GBA2_HUMAN glucosidase, beta (bile acid) 2 923 bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGGGCTCAGGTTTGCCATGGC 0.572000 10 89 0 0 0.008291 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12823101 12823101 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:12823101G>A ENST00000379672.5 + 6 717 c.417G>A c.(415-417)agG>agA p.R139R ARHGAP44_ENST00000262444.9_Silent_p.R139R|ARHGAP44_ENST00000340825.3_Silent_p.R139R NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 139 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 AAAAGCAGAGGAAACACTTAG 0.378000 3 12 0 0 0.004672 0 0 OSCP1 127700 broad.mit.edu 37 1 36883811 36883811 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:36883811C>G ENST00000356637.5 - 11 1162 c.1099G>C c.(1099-1101)Gag>Cag p.E367Q OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000433045.2_Missense_Mutation_p.E312Q|OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000235532.5_Missense_Mutation_p.E357Q Q8WVF1 OSCP1_HUMAN organic solute carrier partner 1 367 transport basal plasma membrane p.E367Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 22 TCCGTGATCTCAAACTCCCCC 0.577000 7 36 0 0 0.001984 0 0 LEPREL1 55214 broad.mit.edu 37 3 189681803 189681803 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:189681803C>T ENST00000319332.5 - 14 2175 c.1978G>A c.(1978-1980)Gga>Aga p.G660R LEPREL1_ENST00000427335.2_Missense_Mutation_p.G479R NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 660 Fe2OG dioxygenase. collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CACCTCTTTCCCTTGGTGACT 0.493000 26 151 0 0 0.004656 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959828 45959828 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:45959828G>A ENST00000400375.1 - 1 250 c.206C>T c.(205-207)tCa>tTa p.S69L TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 69 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 GGTGCAGCCTGATTGGCAGGG 0.716000 20 75 0 0 0.012319 0 0 WDFY3 23001 broad.mit.edu 37 4 85672736 85672736 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:85672736G>C ENST00000322366.6 - 36 6280 c.5873C>G c.(5872-5874)gCt>gGt p.A1958G WDFY3_ENST00000295888.4_Missense_Mutation_p.A1958G Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1958 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GAACTTTTTAGCCGGGTGATT 0.458000 38 91 0 0 0.004289 0 0 CC2D1A 54862 broad.mit.edu 37 19 14020719 14020719 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:14020719C>T ENST00000318003.7 + 2 385 c.144C>T c.(142-144)ttC>ttT p.F48F CC2D1A_ENST00000589606.1_Silent_p.F48F NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 48 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) AGGCTGAGTTCTTGGCTTTGG 0.567000 20 67 0 0 0.008871 0 0 TMEM53 79639 broad.mit.edu 37 1 45120816 45120816 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:45120816G>T ENST00000372237.3 - 3 412 c.249C>A c.(247-249)atC>atA p.I83I TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372235.3_Intron|TMEM53_ENST00000372242.3_Silent_p.I83I NM_024587.2 NP_078863.2 Q6P2H8 TMM53_HUMAN transmembrane protein 53 83 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1) 10 Acute lymphoblastic leukemia(166;0.155) GAAGTGAAGGGATACCCAGTG 0.552000 OREG0013446 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 47 4.68919e-08 4.96502e-08 0.008291 1 0 AIP 9049 broad.mit.edu 37 11 67254633 67254633 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:67254633G>C ENST00000279146.3 + 2 374 c.256G>C c.(256-258)Gcc>Ccc p.A86P NM_003977.2 NP_003968.2 O00170 AIP_HUMAN aryl hydrocarbon receptor interacting protein 86 PPIase FKBP-type. protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2) 7 AGGGGAGATTGCCCAGTTCCT 0.582000 Familial Isolated Pituitary Adenoma 11 129 0 0 0.001368 0 0 ZNF10 7556 broad.mit.edu 37 12 133732691 133732691 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:133732691C>T ENST00000248211.6 + 5 1081 c.859C>T c.(859-861)Cat>Tat p.H287Y ZNF10_ENST00000402932.2_Missense_Mutation_p.H153Y|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.H287Y|ZNF268_ENST00000416488.1_Intron NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TCAGCTTATTCATACTGGAGA 0.418000 16 39 0 0 0.004990 0 0 TNK2 10188 broad.mit.edu 37 3 195595101 195595101 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:195595101C>G ENST00000333602.6 - 12 2640 c.2023G>C c.(2023-2025)Gag>Cag p.E675Q TNK2_ENST00000428187.1_Missense_Mutation_p.E707Q|TNK2_ENST00000392400.1_Missense_Mutation_p.E675Q|TNK2_ENST00000381916.2_Missense_Mutation_p.E753Q NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 675 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CGCGCCTGCTCAGGCACAAAG 0.682000 10 72 0 0 0.006214 0 0 TMC2 117532 broad.mit.edu 37 20 2560666 2560666 + Silent SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:2560666T>A ENST00000358864.1 + 7 813 c.798T>A c.(796-798)ctT>ctA p.L266L NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 266 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 ACCTTGTCCTTTTTGGCTTAA 0.393000 6 82 0 0 0.003080 0 0 MCTS1 28985 broad.mit.edu 37 X 119738100 119738100 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:119738100G>C ENST00000371317.5 + 1 266 c.9G>C c.(7-9)aaG>aaC p.K3N NM_014060.2 NP_054779.1 Q9ULC4 MCTS1_HUMAN malignant T cell amplified sequence 1 3 cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1) 10 TCATGTTCAAGAAGTAAGGAC 0.582000 8 24 0 0 0.006214 0 0 S100A14 57402 broad.mit.edu 37 1 153587810 153587810 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:153587810G>C ENST00000368702.1 - 4 350 c.78C>G c.(76-78)atC>atG p.I26M S100A14_ENST00000368701.1_Missense_Mutation_p.I26M|S100A14_ENST00000344616.2_Missense_Mutation_p.I26M|S100A14_ENST00000476873.1_Missense_Mutation_p.I26M|S100A14_ENST00000368700.3_5'UTR Q9HCY8 S10AE_HUMAN S100 calcium binding protein A14 26 calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm calcium ion binding|chemokine receptor binding kidney(2)|large_intestine(1)|lung(1) 4 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GAAAGTTCTTGATGAGGGTCT 0.572000 20 38 0 0 0.007413 0 0 TRIP11 9321 broad.mit.edu 37 14 92471181 92471181 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92471181C>G ENST00000267622.4 - 11 3512 c.3139G>C c.(3139-3141)Gat>Cat p.D1047H NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1047 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) GACAACTGATCAATCTGTTTA 0.328000 T PDGFRB AML 9 41 0 0 0.004482 0 0 NAB2 4665 broad.mit.edu 37 12 57484986 57484986 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57484986C>A ENST00000300131.3 + 2 540 c.162C>A c.(160-162)ctC>ctA p.L54L NAB2_ENST00000554718.1_Intron|NAB2_ENST00000357680.4_Silent_p.L54L|NAB2_ENST00000342556.6_Silent_p.L54L NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 54 NCD1. cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GCGCCAACCTCCTTTCCTACT 0.632000 25 102 7.88262e-20 8.67089e-20 0.003330 1 0 FERMT3 83706 broad.mit.edu 37 11 63990903 63990903 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:63990903G>A ENST00000279227.5 + 15 2038 c.1943G>A c.(1942-1944)cGt>cAt p.R648H FERMT3_ENST00000345728.5_Missense_Mutation_p.R644H NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 648 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 GAGCGGGCCCGTGGGGAGGAG 0.612000 8 42 0 0 0.004482 0 0 TRIP11 9321 broad.mit.edu 37 14 92471643 92471643 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92471643C>T ENST00000267622.4 - 11 3050 c.2677G>A c.(2677-2679)Gaa>Aaa p.E893K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 893 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) GATGCTAGTTCAGTAACACTA 0.403000 T PDGFRB AML 18 89 0 0 0.007413 0 0 NACA 4666 broad.mit.edu 37 12 57106861 57106861 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57106861C>G ENST00000454682.1 - 7 6365 c.6084G>C c.(6082-6084)gaG>gaC p.E2028D NACA_ENST00000393891.4_Missense_Mutation_p.E165D|NACA_ENST00000550952.1_Missense_Mutation_p.E875D|NACA_ENST00000552540.1_Missense_Mutation_p.E165D|NACA_ENST00000548563.1_Missense_Mutation_p.E86D|NACA_ENST00000546392.1_Missense_Mutation_p.E165D|NACA_ENST00000356769.3_Missense_Mutation_p.E165D NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 165 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CCTCTTCACTCTCCTCTTGTA 0.403000 T BCL6 NHL 7 41 0 0 0.003080 0 0 TMEM140 55281 broad.mit.edu 37 7 134849728 134849728 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:134849728G>C ENST00000275767.2 + 2 758 c.535G>C c.(535-537)Gag>Cag p.E179Q C7orf49_ENST00000459937.1_Intron NM_018295.4 NP_060765.4 Q9NV12 TM140_HUMAN transmembrane protein 140 179 integral to membrane kidney(1)|large_intestine(2)|lung(2) 5 TGAGAGGGCTGAGAGCAAGCT 0.557000 14 30 0 0 0.003163 0 0 NACC1 112939 broad.mit.edu 37 19 13247198 13247198 + Nonsense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:13247198G>T ENST00000292431.4 + 3 1225 c.1099G>T c.(1099-1101)Gag>Tag p.E367* NM_052876.3 NP_443108.1 Q96RE7 NACC1_HUMAN nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 367 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 CGACCCCTCTGAGAAGCTGGA 0.652000 14 51 4.14922e-12 4.47099e-12 0.004007 1 0 HOMER2 9455 broad.mit.edu 37 15 83518566 83518566 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:83518566C>T ENST00000304231.8 - 9 1158 c.966G>A c.(964-966)ctG>ctA p.L322L HOMER2_ENST00000426485.1_Silent_p.L267L|HOMER2_ENST00000450735.2_Silent_p.L311L|HOMER2_ENST00000399166.2_Silent_p.L256L NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 322 metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane cervix(1)|endometrium(2)|lung(6) 9 ACTCCACCTTCAGGTGGCGCT 0.547000 OREG0023389 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 55 0 0 0.004656 0 0 PI4KA 5297 broad.mit.edu 37 22 21107310 21107310 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:21107310C>T ENST00000255882.6 - 25 2954 c.2868G>A c.(2866-2868)aaG>aaA p.K956K PI4KA_ENST00000572273.1_Silent_p.K898K NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 898 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TCTCCTTGGTCTTGGCCTAGA 0.537000 29 50 0 0 0.007291 0 0 AAK1 22848 broad.mit.edu 37 2 69704114 69704114 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:69704114C>T ENST00000409085.4 - 21 3065 c.2689G>A c.(2689-2691)Gat>Aat p.D897N AAK1_ENST00000409068.1_Intron NM_014911.3 NP_055726.3 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 897 coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 AGATTACTATCTTCTGCAGCT 0.423000 3 11 0 0 0.004672 0 0 C16orf62 57020 broad.mit.edu 37 16 19659193 19659193 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:19659193C>T ENST00000438132.3 + 24 2332 c.2284C>T c.(2284-2286)Cag>Tag p.Q762* C16orf62_ENST00000417362.2_Nonsense_Mutation_p.Q606*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q523*|C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q673*|C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q422*|C16orf62_ENST00000542263.1_Nonsense_Mutation_p.Q695* NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 673 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TGTTCTTGTGCAGTTGATTCA 0.328000 24 76 0 0 0.003330 0 0 PARP8 79668 broad.mit.edu 37 5 50118221 50118221 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:50118221G>A ENST00000281631.5 + 17 2005 c.1847G>A c.(1846-1848)aGa>aAa p.R616K PARP8_ENST00000505554.1_Missense_Mutation_p.R595K|PARP8_ENST00000505697.2_Missense_Mutation_p.R616K|PARP8_ENST00000503750.2_Missense_Mutation_p.R574K|PARP8_ENST00000514067.2_Missense_Mutation_p.R574K|PARP8_ENST00000514342.2_Missense_Mutation_p.R327K|PARP8_ENST00000511363.2_3'UTR NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 616 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) ACTTCTATCAGAGAAATGACA 0.308000 18 96 0 0 0.007413 0 0 CACNA1G 8913 broad.mit.edu 37 17 48684289 48684289 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:48684289C>G ENST00000352832.5 + 23 4754 c.4382C>G c.(4381-4383)tCc>tGc p.S1461C CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1461C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1461C|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1484C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1461C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1461C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1484C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1461C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1484C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1484C NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1484 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GTTTTGGCCTCCAAGGATGGT 0.577000 16 41 0 0 0.004007 0 0 PLEKHG7 440107 broad.mit.edu 37 12 93163911 93163911 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:93163911G>C ENST00000344636.3 + 12 1264 c.1080G>C c.(1078-1080)aaG>aaC p.K360N NM_001004330.2 NP_001004330.1 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 7 360 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1) 17 GCTTTACCAAGAGTCAGGAAA 0.333000 14 37 0 0 0.004007 0 0 B3GALT2 8707 broad.mit.edu 37 1 193150249 193150249 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:193150249C>T ENST00000367434.4 - 2 1199 c.444G>A c.(442-444)gaG>gaA p.E148E CDC73_ENST00000367435.3_Intron NM_003783.3 NP_003774.1 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 148 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 16 AAGGACTTTTCTCTTGGCATT 0.368000 29 67 0 0 0.007291 0 0 FANCA 2175 broad.mit.edu 37 16 89858379 89858379 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:89858379G>C ENST00000389301.3 - 13 1211 c.1181C>G c.(1180-1182)tCt>tGt p.S394C FANCA_ENST00000568369.1_Missense_Mutation_p.S394C NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 394 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AACCAGGGCAGACACAAAGGA 0.552000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 15 48 0 0 0.004007 0 0 AGL 178 broad.mit.edu 37 1 100346890 100346890 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:100346890C>T ENST00000294724.4 + 16 2522 c.2044C>T c.(2044-2046)Cct>Tct p.P682S AGL_ENST00000370165.3_Missense_Mutation_p.P682S|AGL_ENST00000361915.3_Missense_Mutation_p.P682S|AGL_ENST00000361302.3_Missense_Mutation_p.P666S|AGL_ENST00000361522.4_Missense_Mutation_p.P665S|AGL_ENST00000370161.2_Missense_Mutation_p.P666S|AGL_ENST00000370163.3_Missense_Mutation_p.P682S NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 682 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TAAGTGGAATCCTGAAGCATT 0.373000 19 58 0 0 0.008871 0 0 CCNT1 904 broad.mit.edu 37 12 49088089 49088089 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:49088089G>A ENST00000261900.3 - 9 1130 c.908C>T c.(907-909)tCa>tTa p.S303L NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 303 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 GGTAGAAGTTGACATGCTCAT 0.493000 31 61 0 0 0.008361 0 0 NSUN7 79730 broad.mit.edu 37 4 40752873 40752873 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:40752873C>G ENST00000381782.2 + 2 658 c.163C>G c.(163-165)Cag>Gag p.Q55E NSUN7_ENST00000316607.5_Missense_Mutation_p.Q55E NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 CAACATTTTTCAGGGTATTCG 0.512000 40 94 0 0 0.006230 0 0 OVCH1 341350 broad.mit.edu 37 12 29649538 29649538 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:29649538G>C ENST00000318184.5 - 2 133 c.134C>G c.(133-135)tCt>tGt p.S45C NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 45 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) ACTAATTCTAGAGAAGAATCT 0.413000 40 90 0 0 0.004878 0 0 LIN54 132660 broad.mit.edu 37 4 83859644 83859644 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:83859644G>A ENST00000340417.3 - 8 1831 c.1454C>T c.(1453-1455)tCa>tTa p.S485L LIN54_ENST00000510557.1_Missense_Mutation_p.S264L|LIN54_ENST00000506560.1_Missense_Mutation_p.S396L|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.S396L|LIN54_ENST00000446851.2_Missense_Mutation_p.S264L|LIN54_ENST00000442461.2_Missense_Mutation_p.S264L|LIN54_ENST00000505397.1_Missense_Mutation_p.S485L NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 485 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) TGATACATATGAAGACTGCTG 0.353000 4 55 0 0 0.000602 0 0 NACA 4666 broad.mit.edu 37 12 57106606 57106606 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57106606C>T ENST00000454682.1 - 8 6467 c.6186G>A c.(6184-6186)ctG>ctA p.L2062L NACA_ENST00000393891.4_Silent_p.L199L|NACA_ENST00000550952.1_Silent_p.L909L|NACA_ENST00000552540.1_Silent_p.L199L|NACA_ENST00000548563.1_Silent_p.L120L|NACA_ENST00000546392.1_Silent_p.L199L|NACA_ENST00000356769.3_Silent_p.L199L NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 199 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGTTGTTCTTCAGGGCTCGGA 0.423000 T BCL6 NHL 15 84 0 0 0.004990 0 0 SLC4A9 83697 broad.mit.edu 37 5 139745591 139745591 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:139745591G>A ENST00000230993.6 + 13 1990 c.1955G>A c.(1954-1956)cGc>cAc p.R652H SLC4A9_ENST00000507527.1_Missense_Mutation_p.R652H|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R628H|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R614H NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 652 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGACCAGCCGCTTCTTCCCC 0.493000 73 198 0 0 0.003610 0 0 MBD3 53615 broad.mit.edu 37 19 1585105 1585105 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:1585105C>T ENST00000590550.2 - 1 424 c.51G>A c.(49-51)aaG>aaA p.K17K MBD3_ENST00000592012.1_Silent_p.K41K|MBD3_ENST00000156825.1_Silent_p.K73K|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000434436.3_Silent_p.K73K O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 73 MBD. transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) TCTTGTTCATCTTGCTCATCA 0.647000 6 25 0 0 0.001984 0 0 ZNRF3 84133 broad.mit.edu 37 22 29445929 29445929 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:29445929G>A ENST00000544604.2 + 8 1935 c.1760G>A c.(1759-1761)cGc>cAc p.R587H ZNRF3_ENST00000332811.4_Missense_Mutation_p.R487H|ZNRF3_ENST00000402174.1_Missense_Mutation_p.R487H|ZNRF3_ENST00000406323.3_Missense_Mutation_p.R487H NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 587 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 TCCACCTTCCGCAGCTCCCTC 0.667000 32 109 0 0 0.012213 0 0 AFM 173 broad.mit.edu 37 4 74361120 74361120 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:74361120G>A ENST00000226355.3 + 9 1255 c.1162G>A c.(1162-1164)Gaa>Aaa p.E388K NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 388 Albumin 2. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTGCAACACAGAAAACCCTCC 0.363000 15 44 0 0 0.003163 0 0 METTL6 131965 broad.mit.edu 37 3 15467880 15467880 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:15467880G>C ENST00000443029.1 - 2 379 c.139C>G c.(139-141)Ctt>Gtt p.L47V METTL6_ENST00000450816.2_Missense_Mutation_p.L47V|METTL6_ENST00000383789.5_Missense_Mutation_p.L47V|METTL6_ENST00000383790.3_Missense_Mutation_p.L47V Q8TCB7 METL6_HUMAN methyltransferase like 6 47 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1) 15 TTGTAAAAAAGATCCCAATTT 0.373000 14 43 0 0 0.001855 0 0 MALAT1 378938 broad.mit.edu 37 11 65272755 65272755 + RNA SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65272755G>T ENST00000534336.1 + 0 7523 NR_002819.2 CTAAGGTCAAGAGAAGTGTCA 0.483000 9 32 1.12685e-05 1.17121e-05 0.004482 1 0 GAPVD1 26130 broad.mit.edu 37 9 128086134 128086134 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:128086134C>T ENST00000470056.1 + 9 1950 c.1790C>T c.(1789-1791)tCa>tTa p.S597L GAPVD1_ENST00000394083.2_Missense_Mutation_p.S576L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.S597L|GAPVD1_ENST00000495955.1_Missense_Mutation_p.S597L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.S597L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.S597L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.S576L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.S597L Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 597 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GAGTCTGTGTCAGAACTTGGA 0.428000 11 53 0 0 0.010729 0 0 ENAM 10117 broad.mit.edu 37 4 71508617 71508617 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:71508617G>A ENST00000396073.3 + 9 1755 c.1474G>A c.(1474-1476)Gaa>Aaa p.E492K ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 492 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) TGATCAACATGAAAACTCCTA 0.378000 7 30 0 0 0.004482 0 0 POM121L12 285877 broad.mit.edu 37 7 53103789 53103789 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:53103789C>T ENST00000408890.4 + 1 441 c.425C>T c.(424-426)gCg>gTg p.A142V NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 142 p.A142V(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 ATCGGGATCGCGCCCCCTGAG 0.721000 13 30 0 0 0.002450 0 0 CYP11B1 1584 broad.mit.edu 37 8 143961152 143961152 + Silent SNP C C G rs147788769 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:143961152C>G ENST00000292427.4 - 1 110 c.78G>C c.(76-78)acG>acC p.T26T CYP11B1_ENST00000377675.3_Silent_p.T26T|CYP11B1_ENST00000517471.1_Silent_p.T26T NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 26 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GGGCGGCTCTCGTGCCCAGTG 0.652000 Familial Hyperaldosteronism type I 20 77 0 0 0.008871 0 0 CAD 790 broad.mit.edu 37 2 27463930 27463930 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:27463930G>A ENST00000264705.4 + 37 5805 c.5643G>A c.(5641-5643)ctG>ctA p.L1881L CAD_ENST00000403525.1_Silent_p.L1818L NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1881 Linker. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CTGCAGAGCTGATGGGAACCC 0.622000 43 101 0 0 0.010771 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427616 197427616 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:197427616C>G ENST00000273582.5 - 7 1494 c.949G>C c.(949-951)Gag>Cag p.E317Q KIAA0226_ENST00000449205.1_Missense_Mutation_p.E377Q|KIAA0226_ENST00000296343.5_Missense_Mutation_p.E377Q|KIAA0226_ENST00000389665.5_Missense_Mutation_p.E377Q NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 377 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) AGCTGGCTCTCCCCACCTCCT 0.577000 35 76 0 0 0.002836 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60212054 60212054 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr18:60212054C>G ENST00000269499.5 + 4 1566 c.1148C>G c.(1147-1149)tCa>tGa p.S383* ZCCHC2_ENST00000586834.1_Nonsense_Mutation_p.S62* NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 383 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 TCTGATCTTTCAGTCACAACA 0.308000 2 2 0 0 0.004672 0 0 ETS2 2114 broad.mit.edu 37 21 40191453 40191453 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:40191453G>A ENST00000360214.3 + 9 1298 c.838G>A c.(838-840)Gag>Aag p.E280K ETS2_ENST00000360938.3_Missense_Mutation_p.E280K NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 280 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) CGACTCCCCTGAGAACGGTGC 0.557000 46 34 0 0 0.003610 0 0 C1RL 51279 broad.mit.edu 37 12 7260991 7260991 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:7260991C>T ENST00000266542.4 - 2 248 c.156G>A c.(154-156)ctG>ctA p.L52L C1RL_ENST00000545280.1_Intron|C1RL_ENST00000545337.1_Silent_p.L52L|C1RL_ENST00000544702.1_Silent_p.L52L|C1RL-AS1_ENST00000435921.2_RNA|C1RL-AS1_ENST00000541775.1_RNA NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 52 CUB. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CGGGGGATGTCAGCTGCTGGG 0.632000 18 55 0 0 0.010504 0 0 AP2M1 1173 broad.mit.edu 37 3 183900581 183900581 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:183900581C>T ENST00000382456.3 + 10 1406 c.1092C>T c.(1090-1092)atC>atT p.I364I AP2M1_ENST00000439647.1_Silent_p.I364I|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000292807.5_Silent_p.I366I|AP2M1_ENST00000411763.2_Silent_p.I391I|AP2M1_ENST00000461733.1_3'UTR NM_001025205.1 NP_001020376.1 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 366 MHD. axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 18 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AATCGCAGATCAGCGCAGAGA 0.552000 17 93 0 0 0.004990 0 0 SYT14 255928 broad.mit.edu 37 1 210334211 210334211 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:210334211G>A ENST00000537238.1 + 9 1769 c.1378G>A c.(1378-1380)Gat>Aat p.D460N SYT14_ENST00000367015.1_Missense_Mutation_p.D460N|SYT14_ENST00000534859.1_Missense_Mutation_p.D524N|SYT14_ENST00000367019.1_Missense_Mutation_p.D517N|SYT14_ENST00000472886.1_Missense_Mutation_p.D498N|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.D562N|SYT14_ENST00000399639.2_3'UTR NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 498 C2 2. integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) TCAGCTTTCTGATGTGACACT 0.418000 18 76 0 0 0.006122 0 0 MTG2 26164 broad.mit.edu 37 20 60775858 60775858 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:60775858G>C ENST00000370823.3 + 7 964 c.946G>C c.(946-948)Gag>Cag p.E316Q MTG2_ENST00000436421.2_Missense_Mutation_p.E158Q|MTG2_ENST00000536470.1_Missense_Mutation_p.E88Q NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 TTCTCAGCCTGAGCCGTGGAC 0.547000 63 215 0 0 0.003610 0 0 GSTA3 2940 broad.mit.edu 37 6 52767169 52767169 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:52767169C>T ENST00000211122.3 - 4 312 c.247G>A c.(247-249)Ggg>Agg p.G83R GSTA3_ENST00000370968.1_Missense_Mutation_p.G33R NM_000847.4 NP_000838.3 Q16772 GSTA3_HUMAN glutathione S-transferase alpha 3 83 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2) 10 Lung NSC(77;0.0912) Glutathione(DB00143) ATGTCTTTCCCGTAGAGGTTG 0.448000 50 147 0 0 0.003610 0 0 C17orf62 79415 broad.mit.edu 37 17 80405459 80405459 + Missense_Mutation SNP C C T rs142773924 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:80405459C>T ENST00000437807.2 - 4 441 c.124G>A c.(124-126)Gga>Aga p.G42R C17orf62_ENST00000306645.5_Missense_Mutation_p.G42R|C17orf62_ENST00000434650.2_Intron|C17orf62_ENST00000578919.1_Missense_Mutation_p.G42R|C17orf62_ENST00000585064.1_Missense_Mutation_p.G42R|C17orf62_ENST00000577732.1_Missense_Mutation_p.G42R|C17orf62_ENST00000577436.1_Intron|C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000583617.1_Missense_Mutation_p.G42R|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000585080.1_Missense_Mutation_p.G42R|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000578913.1_Missense_Mutation_p.G42R NM_001193653.1|NM_001193657.1 NP_001180582.1|NP_001180586.1 Q9BQA9 CQ062_HUMAN chromosome 17 open reading frame 62 42 integral to membrane protein binding breast(2)|large_intestine(2)|skin(2)|urinary_tract(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GCTTTACCTCCGCTGTAGTAG 0.542000 4 14 0 0 0.000602 0 0 GTF2E1 2960 broad.mit.edu 37 3 120499990 120499990 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:120499990G>C ENST00000283875.5 + 5 1086 c.993G>C c.(991-993)aaG>aaC p.K331N NM_005513.2 NP_005504.2 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, alpha 56kDa 331 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) ACGAGAAAAAGACTTCCTCTG 0.547000 9 63 0 0 0.004482 0 0 BCAN 63827 broad.mit.edu 37 1 156621404 156621404 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:156621404C>T ENST00000329117.4 + 7 1556 c.1220C>T c.(1219-1221)tCc>tTc p.S407F RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.S407F NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 407 Glu-rich. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCATCTACTCCATCCCCATC 0.572000 9 90 0 0 0.008291 0 0 C15orf57 90416 broad.mit.edu 37 15 40849428 40849428 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:40849428C>G ENST00000358005.3 - 3 661 c.388G>C c.(388-390)Gat>Cat p.D130H C15orf57_ENST00000558871.1_Missense_Mutation_p.D130H|C15orf57_ENST00000558750.1_Missense_Mutation_p.D139H|C15orf57_ENST00000416810.2_Missense_Mutation_p.D130H|C15orf57_ENST00000559911.1_Missense_Mutation_p.D130H|RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000561011.1_Missense_Mutation_p.D130H|C15orf57_ENST00000560305.1_Missense_Mutation_p.D130H|C15orf57_ENST00000558113.1_Missense_Mutation_p.D130H NM_001080791.1|NM_052849.2 NP_001074260.1|NP_443081.1 Q9BV29 CO057_HUMAN chromosome 15 open reading frame 57 130 endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 9 TCATCAGAATCAAGTCCATCC 0.438000 12 26 0 0 0.002450 0 0 ARID2 196528 broad.mit.edu 37 12 46231439 46231439 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:46231439G>A ENST00000334344.6 + 10 1451 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K ARID2_ENST00000422737.1_Missense_Mutation_p.E278K|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.E56K NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 427 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CATGCTCACGGAAATGGGAGA 0.378000 """N, S, F""" hepatocellular carcinoma 18 39 0 0 0.006122 0 0 MIR518F 574472 broad.mit.edu 37 19 54203354 54203354 + RNA SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:54203354G>C ENST00000384973.1 + 0 86 NR_030194.1 TACTCTTTGAGAAAAGCAACG 0.378000 13 59 0 0 0.001368 0 0 CDH10 1008 broad.mit.edu 37 5 24511615 24511615 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:24511615G>C ENST00000264463.4 - 6 1330 c.823C>G c.(823-825)Cat>Gat p.H275D NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 275 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H275Y(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ACTCGAAGATGAATAGTGTCT 0.418000 HNSCC(23;0.051) 7 28 0 0 0.001984 0 0 MYH7B 57644 broad.mit.edu 37 20 33567491 33567491 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:33567491C>T ENST00000262873.7 + 5 444 c.352C>T c.(352-354)Cag>Tag p.Q118* NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 76 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) AGCCGAGCTGCAGCCCATGAA 0.647000 25 87 0 0 0.006320 0 0 NRAP 4892 broad.mit.edu 37 10 115368262 115368262 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr10:115368262G>A ENST00000369358.4 - 32 3881 c.3637C>T c.(3637-3639)Cgg>Tgg p.R1213W NRAP_ENST00000359988.3_Missense_Mutation_p.R1205W|NRAP_ENST00000369360.3_Missense_Mutation_p.R1178W|NRAP_ENST00000360478.3_Missense_Mutation_p.R1170W Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1205 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GGATGCTGCCGATATTTACTC 0.438000 60 116 0 0 0.003610 0 0 STAB2 55576 broad.mit.edu 37 12 104129353 104129353 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:104129353G>A ENST00000388887.2 + 52 5749 c.5545G>A c.(5545-5547)Gac>Aac p.D1849N NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1849 FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGCTGGCAGGGACATCGTGAG 0.507000 3 10 0 0 0.004672 0 0 TP53INP1 94241 broad.mit.edu 37 8 95942725 95942725 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:95942725C>T ENST00000342697.4 - 4 1112 c.705G>A c.(703-705)ccG>ccA p.P235P TP53INP1_ENST00000448464.2_3'UTR|TP53INP1_ENST00000378776.4_Silent_p.P180P|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 235 apoptosis PML body kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) TGTACTGACGCGGGCAGGGCT 0.438000 53 115 0 0 0.003610 0 0 EPPK1 83481 broad.mit.edu 37 8 144943311 144943311 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:144943311C>T ENST00000525985.1 - 2 4182 c.4111G>A c.(4111-4113)Ggg>Agg p.G1371R P58107 EPIPL_HUMAN epiplakin 1 1371 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGGTGCACCCCGTGGACAGGG 0.637000 8 31 0 0 0.003080 0 0 PLCH2 9651 broad.mit.edu 37 1 2428128 2428128 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:2428128G>A ENST00000449969.1 + 14 1998 c.1837G>A c.(1837-1839)Gac>Aac p.D613N PLCH2_ENST00000378486.3_Missense_Mutation_p.D640N|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.D640N|PLCH2_ENST00000378488.3_Missense_Mutation_p.D640N|PLCH2_ENST00000288766.5_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 640 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GGCCACCCACGACATAGAGAT 0.682000 4 14 0 0 0.000602 0 0 SLC25A18 83733 broad.mit.edu 37 22 18072904 18072904 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:18072904G>A ENST00000327451.5 + 11 1388 c.850G>A c.(850-852)Gct>Act p.A284T SLC25A18_ENST00000399813.1_Missense_Mutation_p.A284T NM_031481.1 NP_113669.1 Q9H1K4 GHC2_HUMAN solute carrier family 25 (glutamate carrier), member 18 284 integral to membrane|mitochondrial inner membrane binding|symporter activity breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 18 Lung(27;0.124) L-Glutamic Acid(DB00142) CATGAAAGGCGCTGGCTGCCG 0.527000 19 81 0 0 0.006122 0 0 HEXA 3073 broad.mit.edu 37 15 72643480 72643480 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:72643480C>A ENST00000268097.5 - 6 1169 c.666G>T c.(664-666)atG>atT p.M222I RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.M49I|HEXA_ENST00000566304.1_Missense_Mutation_p.M233I|HEXA_ENST00000567159.1_Missense_Mutation_p.M222I|HEXA_ENST00000457859.2_Missense_Mutation_p.M30I|RP11-106M3.3_ENST00000570175.1_RNA NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 222 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 ATACCTTTCTCATGAGCTCTG 0.468000 10 38 7.03913e-09 7.48321e-09 0.001368 1 0 LAMA5 3911 broad.mit.edu 37 20 60942119 60942119 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:60942119G>A ENST00000252999.3 - 1 249 c.183C>T c.(181-183)tcC>tcT p.S61S LAMA5_ENST00000370677.3_Silent_p.S61S|LAMA5_ENST00000370692.3_Silent_p.S61S NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 61 Laminin N-terminal. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGCAGGTCGCGGAGGCGGCGA 0.791000 2 0 0 0 0.004672 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21556189 21556189 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:21556189C>A ENST00000298694.4 + 22 4577 c.4450C>A c.(4450-4452)Caa>Aaa p.Q1484K ARHGEF40_ENST00000298693.3_Missense_Mutation_p.Q1436K Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 1484 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CCCCAGCCTGCAACCCCCCCA 0.577000 19 79 1.45105e-14 1.57214e-14 0.006122 1 0 TBC1D20 128637 broad.mit.edu 37 20 428599 428599 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:428599C>A ENST00000354200.4 - 2 337 c.190G>T c.(190-192)Gag>Tag p.E64* NM_144628.2 NP_653229.1 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 64 Rab-GAP TBC. interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(17;0.228)|Breast(17;0.231) CGTCTGATCTCATCAGTCAGG 0.532000 13 47 6.31663e-08 6.67036e-08 0.003163 1 0 PLEC 5339 broad.mit.edu 37 8 144998102 144998102 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:144998102C>G ENST00000322810.4 - 31 6575 c.6406G>C c.(6406-6408)Gag>Cag p.E2136Q PLEC_ENST00000356346.3_Missense_Mutation_p.E1985Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1999Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2026Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1999Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2003Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E1967Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2022Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1977Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2136 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGTGCGGCCTCCTCCTCGGCC 0.746000 3 21 0 0 0.004672 0 0 ZBTB24 9841 broad.mit.edu 37 6 109788881 109788881 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:109788881G>A ENST00000230122.3 - 6 1512 c.1345C>T c.(1345-1347)Ctt>Ttt p.L449F NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) TGGGTCTGAAGAGAACTCTTT 0.373000 4 23 0 0 0.001168 0 0 SDC4 6385 broad.mit.edu 37 20 43964468 43964468 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:43964468G>A ENST00000372733.3 - 2 192 c.153C>T c.(151-153)ccC>ccT p.P51P SDC4_ENST00000537976.1_Intron NM_002999.3 NP_002990.2 P31431 SDC4_HUMAN syndecan 4 51 extracellular region|integral to plasma membrane cytoskeletal protein binding|thrombospondin receptor activity p.P51P(1) SDC4/ROS1(7) NS(1)|breast(1)|endometrium(1)|large_intestine(2) 5 Myeloproliferative disorder(115;0.0122) ATTCCTGCCCGGGCCCCACTA 0.582000 T ROS1 NSCLC 31 47 0 0 0.012213 0 0 TTN 7273 broad.mit.edu 37 2 179398942 179398942 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:179398942C>T ENST00000589042.1 - 358 102624 c.102400G>A c.(102400-102402)Gaa>Aaa p.E34134K TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25261K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25069K|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25194K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32493K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31566K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32493 Ig-like 151.|Ser-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) GGGCCAATTTCAATGGATGCC 0.443000 30 86 0 0 0.008361 0 0 NACA 4666 broad.mit.edu 37 12 57106659 57106659 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57106659C>G ENST00000454682.1 - 8 6414 c.6133G>C c.(6133-6135)Gaa>Caa p.E2045Q NACA_ENST00000393891.4_Missense_Mutation_p.E182Q|NACA_ENST00000550952.1_Missense_Mutation_p.E892Q|NACA_ENST00000552540.1_Missense_Mutation_p.E182Q|NACA_ENST00000548563.1_Missense_Mutation_p.E103Q|NACA_ENST00000546392.1_Missense_Mutation_p.E182Q|NACA_ENST00000356769.3_Missense_Mutation_p.E182Q NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 182 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 ATGACCAATTCAATGTCCTTA 0.403000 T BCL6 NHL 10 91 0 0 0.010729 0 0 RALGDS 5900 broad.mit.edu 37 9 135982483 135982483 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:135982483C>T ENST00000393160.3 - 7 1590 c.1237G>A c.(1237-1239)Gag>Aag p.E413K RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.E539K|RALGDS_ENST00000372047.3_Missense_Mutation_p.E456K|RALGDS_ENST00000372050.3_Missense_Mutation_p.E468K|RALGDS_ENST00000393157.3_Missense_Mutation_p.E467K|RALGDS_ENST00000372062.3_Missense_Mutation_p.E439K NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 468 Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CTGGCCACCTCGATCCAGTGC 0.622000 T CIITA """PMBL, Hodgkin Lymphona, """ 12 57 0 0 0.010729 0 0 MYRF 745 broad.mit.edu 37 11 61548770 61548770 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:61548770C>T ENST00000278836.5 + 21 2829 c.2733C>T c.(2731-2733)agC>agT p.S911S TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.S876S|MYRF_ENST00000389602.4_Silent_p.S302S NM_001127392.1 NP_001120864.1 myelin regulatory factor atgttctcagcccaagtccca 0.607000 18 47 0 0 0.004990 0 0 MALAT1 378938 broad.mit.edu 37 11 65272832 65272832 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65272832G>A ENST00000534336.1 + 0 7600 NR_002819.2 TGAAGCATCCGAAGGAATGCT 0.423000 5 30 0 0 0.000602 0 0 ZNF474 133923 broad.mit.edu 37 5 121488078 121488078 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:121488078G>C ENST00000296600.4 + 2 776 c.393G>C c.(391-393)ttG>ttC p.L131F CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron NM_207317.1 NP_997200.1 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 131 intracellular zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) CCAAGCATTTGAGGAGGCCAG 0.517000 31 78 0 0 0.009535 0 0 CLASP1 23332 broad.mit.edu 37 2 122165228 122165228 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:122165228C>T ENST00000263710.4 - 25 2877 c.2488G>A c.(2488-2490)Gat>Aat p.D830N CLASP1_ENST00000541377.1_Missense_Mutation_p.D808N|CLASP1_ENST00000541859.1_Missense_Mutation_p.D563N|CLASP1_ENST00000455322.2_Missense_Mutation_p.D802N|CLASP1_ENST00000397587.3_Missense_Mutation_p.D810N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D802N|CLASP1_ENST00000545861.1_Missense_Mutation_p.D577N NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 830 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) CTTGAGGCATCACTGTTGGCA 0.502000 38 115 0 0 0.004289 0 0 YTHDC2 64848 broad.mit.edu 37 5 112871369 112871369 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:112871369G>A ENST00000161863.4 + 7 1189 c.976G>A c.(976-978)Gat>Aat p.D326N YTHDC2_ENST00000515883.1_Missense_Mutation_p.D326N NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 326 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TCGATTTAGTGATTTTTTACT 0.303000 13 48 0 0 0.002450 0 0 RUSC1 23623 broad.mit.edu 37 1 155295461 155295461 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:155295461C>T ENST00000368352.5 + 6 1963 c.1812C>T c.(1810-1812)ctC>ctT p.L604L RUSC1_ENST00000368349.4_Silent_p.L135L|RUSC1_ENST00000368354.3_Silent_p.L604L|RUSC1_ENST00000292254.4_Silent_p.L135L|RUSC1_ENST00000368347.4_Silent_p.L194L|RUSC1_ENST00000462780.1_3'UTR NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 604 RUN. cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) TGGGCCTCCTCAAGTGAGTTG 0.612000 9 15 0 0 0.004482 0 0 CPD 1362 broad.mit.edu 37 17 28789469 28789469 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:28789469C>G ENST00000225719.4 + 20 3974 c.3898C>G c.(3898-3900)Ctt>Gtt p.L1300V CPD_ENST00000543464.2_Missense_Mutation_p.L1053V NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 1300 proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 GCCAAGGGAGCTTGTGGTAAC 0.373000 20 49 0 0 0.010504 0 0 CNR1 1268 broad.mit.edu 37 6 88854153 88854153 + Missense_Mutation SNP C C A rs140051374 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:88854153C>A ENST00000537554.1 - 2 4403 c.841G>T c.(841-843)Ggg>Tgg p.G281W CNR1_ENST00000549890.1_Missense_Mutation_p.G281W|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.G281W|CNR1_ENST00000369499.2_Missense_Mutation_p.G281W|CNR1_ENST00000468898.1_Missense_Mutation_p.G248W|CNR1_ENST00000535130.1_Missense_Mutation_p.G281W|CNR1_ENST00000369501.2_Missense_Mutation_p.G281W|CNR1_ENST00000549716.1_Missense_Mutation_p.G220W NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 281 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CTGGTGACCCCGATCCAGAAC 0.532000 4 74 0.00909568 0.00928322 0.009096 1 0 ARAP1 116985 broad.mit.edu 37 11 72409008 72409008 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:72409008G>A ENST00000359373.5 - 19 3536 c.2685C>T c.(2683-2685)ttC>ttT p.F895F ARAP1_ENST00000334211.8_Silent_p.F650F|ARAP1_ENST00000393609.3_Silent_p.F895F|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Silent_p.F895F|ARAP1_ENST00000429686.1_Silent_p.F589F|ARAP1_ENST00000426523.1_Silent_p.F650F|ARAP1_ENST00000393605.3_Silent_p.F655F Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 895 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 GCCCCTCCGGGAAGACAGCAC 0.657000 3 21 0 0 0.000602 0 0 STARD13 90627 broad.mit.edu 37 13 33703293 33703293 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr13:33703293G>T ENST00000336934.5 - 5 1637 c.1521C>A c.(1519-1521)gtC>gtA p.V507V STARD13_ENST00000399365.3_Silent_p.V389V|STARD13_ENST00000255486.4_Silent_p.V499V NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 507 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GTTCAGGCAAGACATCTTTGG 0.448000 23 90 6.21321e-17 6.8156e-17 0.002780 1 0 DNAH11 8701 broad.mit.edu 37 7 21621571 21621571 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:21621571G>C ENST00000328843.6 + 9 1673 c.1642G>C c.(1642-1644)Gac>Cac p.D548H DNAH11_ENST00000409508.3_Missense_Mutation_p.D548H Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 548 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TCTGGAATTTGACAGAAGGCT 0.333000 Kartagener syndrome 3 92 0 0 0.004672 0 0 BSN 8927 broad.mit.edu 37 3 49702266 49702266 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:49702266C>T ENST00000296452.4 + 10 11889 c.11775C>T c.(11773-11775)ttC>ttT p.F3925F NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3925 F -> L (in Ref. 1; AAC83555). synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TTTCCTCATTCTGGTGACCAT 0.557000 30 69 0 0 0.009535 0 0 PLEC 5339 broad.mit.edu 37 8 145007122 145007122 + Nonsense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:145007122G>A ENST00000322810.4 - 14 2156 c.1987C>T c.(1987-1989)Cag>Tag p.Q663* PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q512*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q526*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q553*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q526*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q530*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q494*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q549*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q504* NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 663 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGCAGGTCCTGCAGGTAGCGC 0.697000 6 29 0 0 0.003080 0 0 FXR1 8087 broad.mit.edu 37 3 180685868 180685868 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:180685868G>A ENST00000357559.4 + 14 1612 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K FXR1_ENST00000491062.1_Missense_Mutation_p.E361K|FXR1_ENST00000480918.1_Missense_Mutation_p.E397K|FXR1_ENST00000468861.1_Missense_Mutation_p.E325K|FXR1_ENST00000305586.7_Missense_Mutation_p.E325K|FXR1_ENST00000445140.2_Missense_Mutation_p.E410K NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 410 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TAACCCCTCTGAAACGGAATC 0.428000 24 161 0 0 0.003330 0 0 UPB1 51733 broad.mit.edu 37 22 24911253 24911253 + Missense_Mutation SNP C C T rs144135211 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:24911253C>T ENST00000413389.2 + 6 2095 c.502C>T c.(502-504)Cgg>Tgg p.R168W UPB1_ENST00000326010.5_Missense_Mutation_p.R236W Q9UBR1 BUP1_HUMAN ureidopropionase, beta 236 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) TTGCTACGGGCGGCACCACCC 0.562000 26 64 0 0 0.004656 0 0 DLGAP4 22839 broad.mit.edu 37 20 35155390 35155390 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:35155390G>C ENST00000373913.3 + 13 3406 c.2926G>C c.(2926-2928)Gac>Cac p.D976H RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000401952.2_Missense_Mutation_p.D976H|DLGAP4_ENST00000373907.2_Missense_Mutation_p.D979H|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000340491.4_Missense_Mutation_p.D440H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.D979H|DLGAP4_ENST00000475894.1_3'UTR Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 979 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CGAGAGCGCAGACAGCATCGA 0.557000 10 50 0 0 0.008291 0 0 UPRT 139596 broad.mit.edu 37 X 74519710 74519710 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:74519710C>A ENST00000373379.1 + 5 868 c.703C>A c.(703-705)Ctt>Att p.L235I UPRT_ENST00000530743.1_Missense_Mutation_p.L99I|UPRT_ENST00000373383.4_Missense_Mutation_p.L235I Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 235 nucleoside metabolic process cytoplasm|nucleus breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4) 18 GAGAAAAGTCCTTCTGATGTA 0.413000 37 23 5.04308e-16 5.50913e-16 0.006230 1 0 STAMBP 10617 broad.mit.edu 37 2 74074516 74074516 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:74074516G>C ENST00000394070.2 + 5 881 c.378G>C c.(376-378)aaG>aaC p.K126N STAMBP_ENST00000409707.1_Missense_Mutation_p.K126N|STAMBP_ENST00000339566.3_Missense_Mutation_p.K126N|STAMBP_ENST00000394073.1_Missense_Mutation_p.K126N|STAMBP_ENST00000536064.1_Missense_Mutation_p.K126N NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein 126 Glu-rich.|Interaction with CHMP3. JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 CTTTGTAGAAGAAGGAAGCAG 0.448000 8 29 0 0 0.004482 0 0 OR4D9 390199 broad.mit.edu 37 11 59283051 59283051 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:59283051G>C ENST00000329328.3 + 1 666 c.666G>C c.(664-666)ttG>ttC p.L222F NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 CGGTCATCTTGATGATGCTGA 0.498000 27 156 0 0 0.006320 0 0 TWIST1 7291 broad.mit.edu 37 7 19156446 19156446 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:19156446C>A ENST00000242261.5 - 1 849 c.499G>T c.(499-501)Gag>Tag p.E167* NM_000474.3 NP_000465.1 Q15672 TWST1_HUMAN twist family bHLH transcription factor 1 167 Sufficient for transactivation activity (By similarity). aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 GAGTCCAGCTCGTCGCTCTGG 0.617000 9 18 1.58986e-06 1.66337e-06 0.008291 1 0 FBXL13 222235 broad.mit.edu 37 7 102553560 102553560 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:102553560G>C ENST00000393772.2 - 11 1407 c.981C>G c.(979-981)atC>atG p.I327M LRRC17_ENST00000339431.4_5'UTR|FBXL13_ENST00000456695.1_Missense_Mutation_p.I327M|LRRC17_ENST00000249377.4_5'UTR|FBXL13_ENST00000455112.2_Missense_Mutation_p.I327M|FBXL13_ENST00000436908.1_Missense_Mutation_p.I327M|FBXL13_ENST00000379305.3_Missense_Mutation_p.I327M|FBXL13_ENST00000379306.3_Missense_Mutation_p.I327M|FBXL13_ENST00000379308.3_Missense_Mutation_p.I327M|FBXL13_ENST00000313221.4_Missense_Mutation_p.I327M Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 327 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GGTCCAGATAGATGAGCTTGT 0.488000 5 22 0 0 0.000602 0 0 TRIP11 9321 broad.mit.edu 37 14 92471470 92471470 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92471470C>T ENST00000267622.4 - 11 3223 c.2850G>A c.(2848-2850)atG>atA p.M950I NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 950 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) GTGTGGCGTTCATTTGCTCAT 0.368000 T PDGFRB AML 15 113 0 0 0.007413 0 0 BACH2 60468 broad.mit.edu 37 6 90648025 90648025 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:90648025C>A ENST00000257749.4 - 8 2588 c.1881G>T c.(1879-1881)agG>agT p.R627S BACH2_ENST00000537989.1_Missense_Mutation_p.R627S|BACH2_ENST00000343122.3_Missense_Mutation_p.R627S NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 627 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GGAAATCGTTCCTTGGAAGAT 0.423000 18 43 3.51602e-12 3.79902e-12 0.008871 1 0 LIFR 3977 broad.mit.edu 37 5 38481936 38481936 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:38481936C>G ENST00000263409.4 - 20 3217 c.3055G>C c.(3055-3057)Gaa>Caa p.E1019Q LIFR_ENST00000453190.2_Missense_Mutation_p.E1019Q NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 1019 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) AAGTCCTCTTCTGCAGCTATA 0.443000 T PLAG1 salivary adenoma 20 99 0 0 0.008871 0 0 C19orf57 79173 broad.mit.edu 37 19 14000824 14000824 + Nonsense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:14000824G>C ENST00000454313.1 - 6 903 c.845C>G c.(844-846)tCa>tGa p.S282* C19orf57_ENST00000586783.1_Nonsense_Mutation_p.S282*|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Nonsense_Mutation_p.S282* Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 282 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GGTAGGAGCTGATGCTGGGGT 0.711000 6 42 0 0 0.001168 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145771162 145771162 + Missense_Mutation SNP C C G rs149131924 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:145771162C>G ENST00000276826.5 - 5 2193 c.1992G>C c.(1990-1992)gaG>gaC p.E664D ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E664D|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E664D Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 664 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GCCGGCTGCTCTCGAACTGGG 0.677000 6 20 0 0 0.001168 0 0 FILIP1L 11259 broad.mit.edu 37 3 99649833 99649833 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:99649833G>A ENST00000331335.5 - 2 502 c.32C>T c.(31-33)tCa>tTa p.S11L FILIP1L_ENST00000354552.3_Missense_Mutation_p.S11L|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000398326.2_Missense_Mutation_p.S11L NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 11 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 CTTTTGGGCTGAGCCCTCGGT 0.433000 9 44 0 0 0.010729 0 0 PRPF40B 25766 broad.mit.edu 37 12 50035744 50035744 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:50035744C>T ENST00000261897.1 + 18 2267 c.1716C>T c.(1714-1716)gtC>gtT p.V572V FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Silent_p.V607V|PRPF40B_ENST00000380281.1_Silent_p.V585V Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 585 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 TCGCCCACGTCATAAGCTTTG 0.597000 31 78 0 0 0.009535 0 0 WDHD1 11169 broad.mit.edu 37 14 55474026 55474026 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:55474026C>T ENST00000360586.3 - 7 637 c.572G>A c.(571-573)aGa>aAa p.R191K WDHD1_ENST00000421192.1_Missense_Mutation_p.R68K|WDHD1_ENST00000420358.2_Missense_Mutation_p.R68K NM_007086.3 NP_009017.1 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 191 cytoplasm|nucleoplasm DNA binding breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 CCAAGCAAGTCTGCAGATTGA 0.318000 6 26 0 0 0.003080 0 0 DCHS2 54798 broad.mit.edu 37 4 155278412 155278412 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:155278412C>G ENST00000357232.3 - 6 758 c.759G>C c.(757-759)atG>atC p.M253I DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 253 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ctaaactgttcattacttcct 0.443000 30 102 0 0 0.007291 0 0 TAF6 6878 broad.mit.edu 37 7 99710524 99710524 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:99710524C>T ENST00000344095.4 - 6 996 c.471G>A c.(469-471)caG>caA p.Q157Q TAF6_ENST00000437822.2_Silent_p.Q194Q|TAF6_ENST00000418432.2_Silent_p.Q81Q|TAF6_ENST00000452041.1_Silent_p.Q157Q|TAF6_ENST00000472509.1_Silent_p.Q214Q|TAF6_ENST00000453269.2_Silent_p.Q157Q NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 157 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q157Q(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTTCAGCCTTCTGTTGCTCTT 0.602000 77 187 0 0 0.003610 0 0 PLG 5340 broad.mit.edu 37 6 161134112 161134112 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:161134112G>C ENST00000308192.9 + 5 565 c.502G>C c.(502-504)Gat>Cat p.D168H PLG_ENST00000462918.1_3'UTR NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 168 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CTATACTACTGATCCAGAAAA 0.478000 24 143 0 0 0.005443 0 0 MCF2L2 23101 broad.mit.edu 37 3 182897459 182897459 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:182897459C>G ENST00000328913.3 - 29 3424 c.3127G>C c.(3127-3129)Gac>Cac p.D1043H MCF2L2_ENST00000473233.1_Missense_Mutation_p.D1043H NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 1043 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGACTGTCGTCCGACTGGAAA 0.587000 22 225 0 0 0.002780 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39716595 39716595 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:39716595C>T ENST00000553728.1 + 4 1030 c.817C>T c.(817-819)Caa>Taa p.Q273* MIA2_ENST00000280082.3_Nonsense_Mutation_p.Q273*|MIA2_ENST00000556784.1_Nonsense_Mutation_p.Q272* TGGTGAGCCTCAAACAGAACA 0.393000 9 36 0 0 0.004482 0 0 GTSE1 51512 broad.mit.edu 37 22 46704811 46704811 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:46704811G>A ENST00000454366.1 + 4 945 c.733G>A c.(733-735)Gga>Aga p.G245R NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 226 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CTCTGTTAGAGGAAGAAGCAT 0.612000 20 71 0 0 0.010504 0 0 CELF6 60677 broad.mit.edu 37 15 72582528 72582528 + Nonsense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:72582528G>A ENST00000287202.5 - 4 717 c.463C>T c.(463-465)Cag>Tag p.Q155* CELF6_ENST00000543764.2_Nonsense_Mutation_p.Q40*|CELF6_ENST00000567083.1_Nonsense_Mutation_p.Q155*|CELF6_ENST00000395258.2_Nonsense_Mutation_p.Q42*|CELF6_ENST00000539635.1_Nonsense_Mutation_p.Q16*|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000569311.1_5'UTR NM_052840.4 NP_443072.3 Q96J87 CELF6_HUMAN CUGBP, Elav-like family member 6 155 RRM 2. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2) 13 CCAAAGGGCTGGAACAGGCGT 0.617000 12 27 0 0 0.001368 0 0 LGALS12 85329 broad.mit.edu 37 11 63283183 63283183 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:63283183G>A ENST00000415491.2 + 7 1293 c.679G>A c.(679-681)Gag>Aag p.E227K LGALS12_ENST00000425950.2_Missense_Mutation_p.E218K|LGALS12_ENST00000340246.5_Missense_Mutation_p.E289K|LGALS12_ENST00000394618.3_Missense_Mutation_p.E288K|LGALS12_ENST00000255684.5_Missense_Mutation_p.E279K NM_001142537.1 NP_001136009.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 288 Galectin 2. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 GAGATTCTTTGAGGTAGGTCA 0.557000 11 37 0 0 0.010729 0 0 NSD1 64324 broad.mit.edu 37 5 176562391 176562391 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:176562391C>G ENST00000439151.2 + 2 332 c.287C>G c.(286-288)tCc>tGc p.S96C NSD1_ENST00000347982.4_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.S96C NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 96 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GGATCAGAATCCTTTCAAGAC 0.438000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 12 47 0 0 0.010729 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48143273 48143273 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:48143273G>A ENST00000405493.2 - 10 1024 c.815C>T c.(814-816)gCt>gTt p.A272V RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A272V|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A272V|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.A314V|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A314V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A272V|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.A314V NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 272 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) ATTCACCAGAGCCAGCTGTCC 0.612000 9 62 0 0 0.006214 0 0 COPB1 1315 broad.mit.edu 37 11 14486569 14486569 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:14486569C>T ENST00000249923.3 - 18 2598 c.2298G>A c.(2296-2298)ctG>ctA p.L766L COPB1_ENST00000439561.2_Silent_p.L766L NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 766 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 CCACAAGTTTCAGATCCCCTG 0.393000 10 18 0 0 0.006214 0 0 RPS27A 6233 broad.mit.edu 37 2 55460509 55460509 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:55460509C>G ENST00000272317.6 + 3 383 c.59C>G c.(58-60)tCg>tGg p.S20W RPS27A_ENST00000404735.1_Missense_Mutation_p.S20W|RPS27A_ENST00000402285.3_Missense_Mutation_p.S20W NM_002954.5 NP_002945.1 P62979 RS27A_HUMAN ribosomal protein S27a 20 Ubiquitin-like. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane metal ion binding|structural constituent of ribosome cervix(1)|ovary(1)|urinary_tract(1) 3 GTTGAACCCTCGGATACGATA 0.408000 4 30 0 0 0.000602 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110023720 110023720 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:110023720G>C ENST00000453089.2 + 2 1638 c.757G>C c.(757-759)Gac>Cac p.D253H ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D285H|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D284H Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 284 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) AGGCCACAAAGACATTACAGT 0.428000 3 7 0 0 0.004672 0 0 FKBP11 51303 broad.mit.edu 37 12 49315828 49315828 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:49315828C>G ENST00000550765.1 - 6 943 c.545G>C c.(544-546)aGa>aCa p.R182T AC073610.5_ENST00000537495.1_3'UTR|FKBP11_ENST00000444214.2_Missense_Mutation_p.R80T|ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron NM_016594.2 NP_057678.1 Q9NYL4 FKB11_HUMAN FK506 binding protein 11, 19 kDa 182 protein folding integral to membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(3)|lung(1) 5 GACTTTGGGTCTATTGGCCTT 0.408000 7 104 0 0 0.001984 0 0 SUPT16H 11198 broad.mit.edu 37 14 21827748 21827748 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:21827748C>G ENST00000216297.2 - 19 2534 c.2196G>C c.(2194-2196)aaG>aaC p.K732N NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 732 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TGTGCCGCTTCTTCCCAAACA 0.463000 18 49 0 0 0.007413 0 0 BCKDK 10295 broad.mit.edu 37 16 31121725 31121725 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:31121725G>A ENST00000394951.1 + 8 1170 c.547G>A c.(547-549)Gaa>Aaa p.E183K BCKDK_ENST00000219794.6_Missense_Mutation_p.E183K|BCKDK_ENST00000394950.3_Missense_Mutation_p.E183K|BCKDK_ENST00000287507.3_Missense_Mutation_p.E183K O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 183 Histidine kinase. branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity breast(1)|stomach(1) 2 TTTACAGGATGAAAAGCTCGT 0.592000 20 59 0 0 0.007413 0 0 TUBA8 51807 broad.mit.edu 37 22 18604368 18604368 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:18604368G>C ENST00000330423.3 + 2 199 c.126G>C c.(124-126)aaG>aaC p.K42N TUBA8_ENST00000316027.6_5'UTR NM_018943.2 NP_061816.1 Q9NY65 TBA8_HUMAN tubulin, alpha 8 42 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 AAGCTAGCAAGATCAACGATG 0.552000 12 53 0 0 0.010729 0 0 PAPSS1 9061 broad.mit.edu 37 4 108578142 108578142 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:108578142C>T ENST00000265174.4 - 7 1077 c.805G>A c.(805-807)Gtt>Att p.V269I PAPSS1_ENST00000511304.1_5'UTR NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 269 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) TCTGCCAAAACCTGCACCCAC 0.393000 11 74 0 0 0.008291 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57069957 57069957 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:57069957G>A ENST00000532437.1 - 6 4970 c.4659C>T c.(4657-4659)ccC>ccT p.P1553P TNKS1BP1_ENST00000358252.3_Silent_p.P1553P Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1553 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) AGTCCTGACTGGGGGATCTGG 0.637000 5 20 0 0 0.000602 0 0 KDM6B 23135 broad.mit.edu 37 17 7752328 7752328 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:7752328C>T ENST00000254846.5 + 11 3111 c.2722C>T c.(2722-2724)Cgc>Tgc p.R908C KDM6B_ENST00000448097.2_Missense_Mutation_p.R908C NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 908 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GCCCCCTGCTCGCTCTGAGTC 0.711000 6 11 0 0 0.001168 0 0 PLEC 5339 broad.mit.edu 37 8 144991749 144991749 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:144991749C>T ENST00000322810.4 - 32 12820 c.12651G>A c.(12649-12651)ctG>ctA p.L4217L PLEC_ENST00000356346.3_Silent_p.L4066L|PLEC_ENST00000354589.3_Silent_p.L4080L|PLEC_ENST00000436759.2_Silent_p.L4107L|PLEC_ENST00000345136.3_Silent_p.L4080L|PLEC_ENST00000357649.2_Silent_p.L4084L|PLEC_ENST00000398774.2_Silent_p.L4048L|PLEC_ENST00000527096.1_Silent_p.L4103L|PLEC_ENST00000354958.2_Silent_p.L4058L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4217 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGGGGTCGGTCAGGATCTCGT 0.617000 12 45 0 0 0.002450 0 0 SAAL1 113174 broad.mit.edu 37 11 18105261 18105261 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:18105261C>T ENST00000524803.1 - 10 1109 c.1060G>A c.(1060-1062)Gac>Aac p.D354N SAAL1_ENST00000529318.1_Missense_Mutation_p.D356N|SAAL1_ENST00000300013.4_Missense_Mutation_p.D353N Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 354 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 ATGAGGCTGTCAATTAGAGGA 0.363000 4 30 0 0 0.009096 0 0 AHDC1 27245 broad.mit.edu 37 1 27876393 27876393 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:27876393C>T ENST00000374011.2 - 6 3202 c.2234G>A c.(2233-2235)cGg>cAg p.R745Q AHDC1_ENST00000247087.5_Missense_Mutation_p.R745Q|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 745 Gly-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CCCATTCTTCCGGGACCGTCT 0.677000 10 43 0 0 0.006214 0 0 GPR1 2825 broad.mit.edu 37 2 207041250 207041250 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:207041250G>C ENST00000407325.2 - 3 1084 c.722C>G c.(721-723)tCc>tGc p.S241C GPR1_ENST00000437420.1_Missense_Mutation_p.S241C NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3 NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2 P46091 GPR1_HUMAN G protein-coupled receptor 1 241 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 18 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) ATGCCTACTGGAGATCAGGAT 0.443000 7 38 0 0 0.001984 0 0 YTHDC2 64848 broad.mit.edu 37 5 112868689 112868689 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:112868689G>C ENST00000161863.4 + 5 1002 c.789G>C c.(787-789)gaG>gaC p.E263D YTHDC2_ENST00000515883.1_Missense_Mutation_p.E263D NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 263 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TTGCCGCAGAGAGACGGGAAA 0.393000 19 56 0 0 0.007413 0 0 RTTN 25914 broad.mit.edu 37 18 67801735 67801735 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr18:67801735G>A ENST00000255674.6 - 23 3214 c.2928C>T c.(2926-2928)ttC>ttT p.F976F RTTN_ENST00000437017.1_Silent_p.F976F|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 976 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) CAGGCAAACTGAAGACCGATG 0.323000 12 28 0 0 0.001368 0 0 SMG1 23049 broad.mit.edu 37 16 18865140 18865140 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:18865140G>C ENST00000446231.2 - 31 4945 c.4533C>G c.(4531-4533)ttC>ttG p.F1511L SMG1_ENST00000389467.3_Missense_Mutation_p.F1511L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1511 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CAGACTTGCAGAAAGATATGG 0.403000 11 24 0 0 0.001368 0 0 ATP13A3 79572 broad.mit.edu 37 3 194152469 194152469 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:194152469G>A ENST00000439040.1 - 22 3189 c.2398C>T c.(2398-2400)Cat>Tat p.H800Y ATP13A3_ENST00000256031.4_Missense_Mutation_p.H800Y Q9H7F0 AT133_HUMAN ATPase type 13A3 800 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GCTGATGGATGACTGCACTGC 0.388000 10 45 0 0 0.006214 0 0 PGAP3 93210 broad.mit.edu 37 17 37842184 37842184 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:37842184G>A ENST00000300658.4 - 2 362 c.270C>T c.(268-270)ttC>ttT p.F90F PGAP3_ENST00000579146.1_Silent_p.F90F|PGAP3_ENST00000378011.4_Silent_p.F90F|PGAP3_ENST00000429199.2_Silent_p.F90F NM_033419.3 NP_219487.3 Q96FM1 PGAP3_HUMAN post-GPI attachment to proteins 3 90 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 CCTTGCCATGGAACTGAGGCA 0.537000 6 32 0 0 0.003080 0 0 WNK4 65266 broad.mit.edu 37 17 40936541 40936541 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:40936541G>C ENST00000246914.5 + 4 1135 c.1114G>C c.(1114-1116)Gag>Cag p.E372Q NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 372 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GGCCACCTCTGAGTACCCGTA 0.597000 6 36 0 0 0.001984 0 0 TRIP11 9321 broad.mit.edu 37 14 92469778 92469778 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92469778C>T ENST00000267622.4 - 11 4915 c.4542G>A c.(4540-4542)ttG>ttA p.L1514L NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1514 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CTTTCTCTTTCAATAGCTGTT 0.378000 T PDGFRB AML 6 52 0 0 0.001984 0 0 DHX9 1660 broad.mit.edu 37 1 182853912 182853912 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:182853912C>T ENST00000367549.3 + 27 3535 c.3425C>T c.(3424-3426)tCa>tTa p.S1142L DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 1142 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 TCTAGACCCTCAGCTGCTGGT 0.448000 29 63 0 0 0.010818 0 0 CAPG 822 broad.mit.edu 37 2 85628369 85628369 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:85628369C>A ENST00000263867.4 - 5 684 c.435G>T c.(433-435)aaG>aaT p.K145N CAPG_ENST00000409670.1_Missense_Mutation_p.K145N|CAPG_ENST00000409724.1_Missense_Mutation_p.K145N|CAPG_ENST00000409921.1_Missense_Mutation_p.K145N|CAPG_ENST00000483659.1_5'UTR NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 145 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 GGATGTTCTTCTTCCCCTTCA 0.602000 34 95 2.75727e-19 3.02879e-19 0.004878 1 0 OSGEPL1 64172 broad.mit.edu 37 2 190626240 190626240 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:190626240C>G ENST00000519810.1 - 3 469 c.127G>C c.(127-129)Gaa>Caa p.E43Q OSGEPL1_ENST00000522700.1_Missense_Mutation_p.E43Q|OSGEPL1_ENST00000264151.5_Missense_Mutation_p.E43Q Q9H4B0 OSGP2_HUMAN O-sialoglycoprotein endopeptidase-like 1 43 proteolysis|tRNA processing metalloendopeptidase activity large_intestine(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831) CAACTAGTTTCAATTCCCAAT 0.313000 10 78 0 0 0.008291 0 0 KLB 152831 broad.mit.edu 37 4 39448239 39448239 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:39448239G>A ENST00000257408.4 + 4 1990 c.1893G>A c.(1891-1893)ctG>ctA p.L631L NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 631 Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 GTGAGGGGCTGAAGCTTGGCA 0.627000 27 54 0 0 0.004656 0 0 SLC22A4 6583 broad.mit.edu 37 5 131671648 131671648 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:131671648G>T ENST00000200652.3 + 8 1573 c.1399G>T c.(1399-1401)Gcc>Tcc p.A467S AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 467 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CACATCCACGGCCTCCAGAGT 0.483000 15 134 1.99824e-07 2.10453e-07 0.004990 1 0 NPC1L1 29881 broad.mit.edu 37 7 44578910 44578910 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:44578910C>T ENST00000289547.4 - 2 1141 c.1086G>A c.(1084-1086)ccG>ccA p.P362P NPC1L1_ENST00000381160.3_Silent_p.P362P|NPC1L1_ENST00000423141.1_Silent_p.P362P|NPC1L1_ENST00000546276.1_Silent_p.P362P NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 362 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AGGCCACCACCGGGATGACAG 0.622000 34 101 0 0 0.002836 0 0 MAN2A2 4122 broad.mit.edu 37 15 91448544 91448544 + Nonsense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:91448544G>T ENST00000360468.3 + 2 214 c.196G>T c.(196-198)Gag>Tag p.E66* MAN2A2_ENST00000559717.1_Nonsense_Mutation_p.E66* NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 66 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GGAGAACCATGAGATTATCAG 0.547000 25 83 1.55469e-16 1.70307e-16 0.003330 1 0 NACA 4666 broad.mit.edu 37 12 57112180 57112180 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57112180C>T ENST00000454682.1 - 3 3415 c.3134G>A c.(3133-3135)gGa>gAa p.G1045E NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGCTGGACTTCCTTTGGGGGA 0.632000 T BCL6 NHL 31 40 0 0 0.012213 0 0 ZNF70 7621 broad.mit.edu 37 22 24086776 24086776 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:24086776G>C ENST00000341976.3 - 2 1012 c.552C>G c.(550-552)ctC>ctG p.L184L NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 184 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 TCTGGTGCCTGAGCAGGTGGG 0.622000 13 48 0 0 0.001368 0 0 CCL2 6347 broad.mit.edu 37 17 32583786 32583786 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:32583786G>C ENST00000225831.4 + 3 305 c.240G>C c.(238-240)caG>caC p.Q80H CCL2_ENST00000580907.1_3'UTR NM_002982.3 NP_002973.1 P13500 CCL2_HUMAN chemokine (C-C motif) ligand 2 80 angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication extracellular space CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 6 Breast(3;0.00224) Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153) UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103) Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641) ACCCCAAGCAGAAGTGGGTTC 0.488000 20 38 0 0 0.008871 0 0 AHSG 197 broad.mit.edu 37 3 186338532 186338532 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:186338532G>C ENST00000411641.2 + 7 1136 c.917G>C c.(916-918)gGa>gCa p.G306A AHSG_ENST00000273784.5_Missense_Mutation_p.G307A P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 306 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) GCTCCTCCAGGACACCAGTTG 0.632000 105 167 0 0 0.003610 0 0 SLC41A1 254428 broad.mit.edu 37 1 205779420 205779420 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:205779420C>G ENST00000367137.3 - 2 1164 c.150G>C c.(148-150)gtG>gtC p.V50V NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 50 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) GAGACTCAATCACCACCTCTA 0.642000 OREG0014163 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 76 0 0 0.004482 0 0 FOXD4 2298 broad.mit.edu 37 9 117879 117879 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:117879C>G ENST00000382500.2 - 1 538 c.241G>C c.(241-243)Gag>Cag p.E81Q NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 81 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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 endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GTGCCAAACTCTGAGGGGTCG 0.711000 14 246 0 0 0.006122 0 0 KIAA0556 23247 broad.mit.edu 37 16 27789012 27789012 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:27789012G>C ENST00000261588.4 + 26 4652 c.4633G>C c.(4633-4635)Gag>Cag p.E1545Q NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1545 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GCCCACATGTGAGCCCACCGT 0.647000 26 93 0 0 0.005443 0 0 MUC16 94025 broad.mit.edu 37 19 9047213 9047213 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:9047213G>A ENST00000397910.4 - 5 34621 c.34418C>T c.(34417-34419)aCa>aTa p.T11473I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11475 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGGAAAGTTGTAGTGCTGTC 0.507000 30 57 0 0 0.009535 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374262 95374262 + RNA SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:95374262C>T ENST00000494840.1 - 0 1599 NR_077228.1 TTTTGACCTTCCAGTCACAAC 0.463000 6 64 0 0 0.003080 0 0 DNAH11 8701 broad.mit.edu 37 7 21639530 21639530 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:21639530G>A ENST00000328843.6 + 15 2824 c.2793G>A c.(2791-2793)ctG>ctA p.L931L DNAH11_ENST00000409508.3_Silent_p.L931L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 931 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ACTTCTTTCTGAAGAATACAG 0.403000 Kartagener syndrome 13 16 0 0 0.001855 0 0 FLG 2312 broad.mit.edu 37 1 152282333 152282333 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:152282333G>C ENST00000368799.1 - 3 5064 c.5029C>G c.(5029-5031)Cca>Gca p.P1677A FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1677 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTTCTCCTGGACTTGACCTT 0.567000 Ichthyosis 129 468 0 0 0.003610 0 0 OR2W3 343171 broad.mit.edu 37 1 248059216 248059216 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:248059216G>C ENST00000537741.1 + 3 585 c.328G>C c.(328-330)Gtg>Ctg p.V110L OR2W3_ENST00000360358.3_Missense_Mutation_p.V110L Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCTGGGTGGTGTGGAGTGCCT 0.577000 23 60 0 0 0.002299 0 0 TRIP11 9321 broad.mit.edu 37 14 92471478 92471478 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92471478C>T ENST00000267622.4 - 11 3215 c.2842G>A c.(2842-2844)Gag>Aag p.E948K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 948 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTCATTTGCTCATGCTGGTAT 0.363000 T PDGFRB AML 15 106 0 0 0.008871 0 0 PHF12 57649 broad.mit.edu 37 17 27244465 27244465 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:27244465C>G ENST00000577226.1 - 7 1318 c.972G>C c.(970-972)ctG>ctC p.L324L PHF12_ENST00000332830.4_Silent_p.L324L|PHF12_ENST00000268756.3_Silent_p.L324L|PHF12_ENST00000582655.1_5'UTR Q96QT6 PHF12_HUMAN PHD finger protein 12 324 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) TCTTCTGGTTCAGCTAGGGAC 0.493000 11 47 0 0 0.008291 0 0 GALNT16 57452 broad.mit.edu 37 14 69805378 69805378 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:69805378C>G ENST00000337827.4 + 10 1305 c.978C>G c.(976-978)ttC>ttG p.F326L GALNT16_ENST00000553669.1_Missense_Mutation_p.F326L|GALNT16_ENST00000448469.3_Missense_Mutation_p.F326L NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 AGCTCTCCTTCAGGGTGTGGA 0.592000 11 92 0 0 0.008291 0 0 IGF2R 3482 broad.mit.edu 37 6 160484469 160484469 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:160484469C>G ENST00000356956.1 + 27 3841 c.3693C>G c.(3691-3693)gaC>gaG p.D1231E NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1231 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AGGTGAAAGACCCAAGGCATG 0.493000 13 74 0 0 0.001855 0 0 ADSL 158 broad.mit.edu 37 22 40745953 40745953 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:40745953C>G ENST00000216194.7 + 2 327 c.271C>G c.(271-273)Cac>Gac p.H91D ADSL_ENST00000342312.6_Missense_Mutation_p.H91D|ADSL_ENST00000454266.2_Missense_Mutation_p.H91D NM_000026.2 NP_000017.1 P30566 PUR8_HUMAN adenylosuccinate lyase 91 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 TGTGATGGCTCACGTGCACAC 0.468000 4 74 0 0 0.009096 0 0 NSUN7 79730 broad.mit.edu 37 4 40752778 40752778 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:40752778C>A ENST00000381782.2 + 2 563 c.68C>A c.(67-69)aCt>aAt p.T23N NSUN7_ENST00000316607.5_Missense_Mutation_p.T23N NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 TCCCAACTCACTTCCCTGCCT 0.547000 29 70 2.65835e-16 2.90803e-16 0.007291 1 0 SPON1 10418 broad.mit.edu 37 11 14280917 14280917 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:14280917G>A ENST00000310358.7 + 0 2119 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) AGAGGTATGTGAAGCAGTTCC 0.652000 3 13 0 0 0.004672 0 0 BEST3 144453 broad.mit.edu 37 12 70049339 70049339 + Missense_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:70049339T>A ENST00000330891.5 - 10 1581 c.1355A>T c.(1354-1356)aAa>aTa p.K452I BEST3_ENST00000488961.1_Missense_Mutation_p.K239I|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.K346I NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 452 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GAAGCAGGATTTCTTCCAGGT 0.592000 5 108 0 0 0.000602 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5306808 5306808 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:5306808G>A ENST00000274181.7 + 21 3516 c.3378G>A c.(3376-3378)tcG>tcA p.S1126S NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 1126 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CGGGACCCTCGAGGGGCAGCT 0.672000 4 34 0 0 0.009096 0 0 STK11 6794 broad.mit.edu 37 19 1220487 1220487 + Missense_Mutation SNP G G A rs121913315 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:1220487G>A ENST00000326873.7 + 4 1753 c.580G>A c.(580-582)Gac>Aac p.D194N NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 194 Protein kinase. D -> N (in PJS).|D -> V (in lung cancer; somatic mutation).|D -> Y (in melanoma; sporadic malignant; somatic mutation). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.D194Y(6)|p.Y156fs*87(4)|p.?(3)|p.D194N(3) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAAAATCTCCGACCTGGGCGT 0.677000 D194N(ALEXANDERCELLS_LIVER)|D194N(PLCPRF5_LIVER) 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 4 6 0 0 0.001168 0 0 BBS4 585 broad.mit.edu 37 15 73002044 73002044 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:73002044C>T ENST00000268057.4 + 3 121 c.80C>T c.(79-81)cCa>cTa p.P27L BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.P35L|BBS4_ENST00000539603.1_Missense_Mutation_p.P15L|BBS4_ENST00000564239.1_3'UTR NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 27 Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 TGCCTAGCTCCAGAGTTTCCT 0.358000 Bardet-Biedl syndrome 25 90 0 0 0.006320 0 0 SSBP4 170463 broad.mit.edu 37 19 18543509 18543509 + Splice_Site SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:18543509G>C ENST00000270061.6 + 12 970 c.e12-1 SSBP4_ENST00000348495.5_Splice_Site NM_032627.4 NP_116016.1 Q9BWG4 SSBP4_HUMAN single stranded DNA binding protein 4 nucleus single-stranded DNA binding endometrium(2)|kidney(1)|skin(1) 4 CTTGTCCCCAGATCCCCTACT 0.647000 11 22 0 0 0.008291 0 0 RIMKLA 284716 broad.mit.edu 37 1 42880305 42880305 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:42880305G>C ENST00000431473.3 + 5 965 c.836G>C c.(835-837)gGc>gCc p.G279A NM_173642.3 NP_775913.2 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family member A 279 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 GCTAATGTTGGCTTCCTAGCC 0.483000 23 270 0 0 0.002299 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73280574 73280574 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:73280574C>G ENST00000286657.4 - 4 655 c.619G>C c.(619-621)Gaa>Caa p.E207Q NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 207 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding p.E207Q(1) NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGAGCCTGTTCTACAGCTGAT 0.363000 21 52 0 0 0.012319 0 0 SATB2 23314 broad.mit.edu 37 2 200173562 200173562 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:200173562A>G ENST00000443023.1 - 9 2949 c.1484T>C c.(1483-1485)gTc>gCc p.V495A SATB2_ENST00000260926.5_Missense_Mutation_p.V554A|SATB2_ENST00000457245.1_Missense_Mutation_p.V554A|SATB2_ENST00000417098.1_Missense_Mutation_p.V554A|SATB2_ENST00000428695.1_Missense_Mutation_p.V436A Q9UPW6 SATB2_HUMAN SATB homeobox 2 554 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTCATAGATGACATCCCTCTC 0.597000 21 76 0 0 0.002780 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34107680 34107680 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:34107680C>G ENST00000341394.4 + 10 1225 c.1036C>G c.(1036-1038)Cca>Gca p.P346A CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P346A|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P346A|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P265A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P346A NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 346 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) CTCTTTGACTCCAGTGGCTCA 0.458000 5 48 0 0 0.000602 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94337703 94337703 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:94337703C>T ENST00000436063.2 - 5 2049 c.1992G>A c.(1990-1992)ctG>ctA p.L664L NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 664 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) CTCTCATCTTCAGTGCTTTGA 0.403000 72 151 0 0 0.003610 0 0 PRKAG3 53632 broad.mit.edu 37 2 219695504 219695504 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:219695504G>A ENST00000439262.2 - 3 214 c.119C>T c.(118-120)tCg>tTg p.S40L PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Missense_Mutation_p.S65L|PRKAG3_ENST00000529249.1_Missense_Mutation_p.S65L NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 65 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCCTCCACCGACTTCTGCCT 0.607000 28 61 0 0 0.010818 0 0 SELT 51714 broad.mit.edu 37 3 150321201 150321201 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:150321201G>C ENST00000471696.1 + 1 127 c.52G>C c.(52-54)Gag>Cag p.E18Q SELT_ENST00000485923.1_5'UTR|SELT_ENST00000480740.1_Intron|SELT_ENST00000477889.1_5'UTR NM_016275.3 NP_057359.2 P62341 SELT_HUMAN 18 RSE -> WSD (in Ref. 4; AAH09611). cell redox homeostasis|selenocysteine incorporation selenium binding LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GGTCCGGAGCGAGGCCTCGGC 0.602000 7 29 0 0 0.001984 0 0 DYM 54808 broad.mit.edu 37 18 46906126 46906126 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr18:46906126C>A ENST00000269445.6 - 4 653 c.196G>T c.(196-198)Gaa>Taa p.E66* DYM_ENST00000442713.2_Intron NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 66 E -> K (in Ref. 2; BAC11088). Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 GGATTGTTTTCAACTGCAAGA 0.303000 15 42 2.31682e-05 2.40488e-05 0.003163 1 0 PRUNE2 158471 broad.mit.edu 37 9 79244121 79244121 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:79244121C>T ENST00000428286.1 - 16 9262 c.8062G>A c.(8062-8064)Gag>Aag p.E2688K PRUNE2_ENST00000223609.6_Missense_Mutation_p.E311K|PRUNE2_ENST00000376718.3_Missense_Mutation_p.E3046K|PRUNE2_ENST00000443509.2_Missense_Mutation_p.E295K|PRUNE2_ENST00000466266.2_Intron Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 3046 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ATGATGCTCTCTGGAATGTGG 0.388000 4 14 0 0 0.009096 0 0 CMSS1 84319 broad.mit.edu 37 3 99881149 99881149 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:99881149G>A ENST00000421999.2 + 4 374 c.228G>A c.(226-228)aaG>aaA p.K76K CMSS1_ENST00000489081.1_Silent_p.K58K NM_032359.3 NP_115735.2 cms1 ribosomal small subunit homolog (yeast) TATCTTAGAAGAAAATTACTG 0.383000 6 51 0 0 0.001168 0 0 KRT5 3852 broad.mit.edu 37 12 52910942 52910942 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:52910942C>G ENST00000252242.4 - 6 1557 c.1167G>C c.(1165-1167)atG>atC p.M389I NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 389 Coil 2.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) TCATCCGGTTCATCTCAGAGA 0.522000 26 99 0 0 0.003954 0 0 SZT2 23334 broad.mit.edu 37 1 43907767 43907767 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:43907767G>A ENST00000562955.1 + 55 7668 c.7668G>A c.(7666-7668)agG>agA p.R2556R SZT2_ENST00000372442.1_Silent_p.R1714R NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2613 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TTCTGGGAAGGAACTTCTTGC 0.642000 4 46 0 0 0.009096 0 0 C2orf57 165100 broad.mit.edu 37 2 232458485 232458485 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:232458485T>C ENST00000313965.2 + 1 911 c.823T>C c.(823-825)Tcc>Ccc p.S275P NM_152614.2 NP_689827.2 Q53QW1 CB057_HUMAN chromosome 2 open reading frame 57 275 endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 19 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) CTACATGCGCTCCATGACCAG 0.662000 3 88 0 0 0.004672 0 0 NR1I3 9970 broad.mit.edu 37 1 161199674 161199674 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:161199674C>G ENST00000367983.4 - 9 1254 c.960G>C c.(958-960)cgG>cgC p.R320R NR1I3_ENST00000511676.1_Silent_p.R291R|NR1I3_ENST00000515621.1_Silent_p.R245R|NR1I3_ENST00000367979.2_Silent_p.R329R|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000367985.3_Silent_p.R286R|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000508387.1_3'UTR|TOMM40L_ENST00000367987.1_3'UTR|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000504010.1_Silent_p.R252R|NR1I3_ENST00000502985.1_3'UTR|NR1I3_ENST00000367982.4_Silent_p.R324R|NR1I3_ENST00000367981.3_Silent_p.R296R|NR1I3_ENST00000367980.2_Silent_p.R329R|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367988.3_3'UTR|NR1I3_ENST00000442691.2_Intron|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000367984.4_Silent_p.R281R|NR1I3_ENST00000428574.2_Intron Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 324 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CATTAATGCTCCGGAGCTCAG 0.557000 15 44 0 0 0.003163 0 0 MUC4 4585 broad.mit.edu 37 3 195515905 195515905 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:195515905G>A ENST00000463781.3 - 2 3005 c.2546C>T c.(2545-2547)tCc>tTc p.S849F MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S849F NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 854 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGCTGAGGCGGACAGCAATTC 0.557000 13 109 0 0 0.002450 0 0 EIF4G2 1982 broad.mit.edu 37 11 10828424 10828424 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:10828424G>C ENST00000526148.1 - 3 560 c.50C>G c.(49-51)tCg>tGg p.S17W EIF4G2_ENST00000339995.5_Missense_Mutation_p.S17W|EIF4G2_ENST00000525681.1_Missense_Mutation_p.S17W|EIF4G2_ENST00000396525.2_Missense_Mutation_p.S17W|EIF4G2_ENST00000525995.1_5'UTR NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 17 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TCCTCCGCCCGAAGAAGCACT 0.388000 27 94 0 0 0.005443 0 0 LRFN1 57622 broad.mit.edu 37 19 39798557 39798557 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:39798557C>G ENST00000248668.4 - 2 2031 c.2032G>C c.(2032-2034)Gag>Cag p.E678Q NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 678 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GTTGGTGGCTCCAGGGCGCCG 0.716000 3 8 0 0 0.009096 0 0 GPR160 26996 broad.mit.edu 37 3 169802027 169802027 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:169802027C>T ENST00000355897.5 + 4 875 c.267C>T c.(265-267)ttC>ttT p.F89F NM_014373.2 NP_055188.1 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 89 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GCATTAGGTTCACTAAATACC 0.303000 8 82 0 0 0.003080 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 44 0 0 0.009096 0 0 SLC6A7 6534 broad.mit.edu 37 5 149576346 149576346 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:149576346C>G ENST00000230671.2 + 3 656 c.285C>G c.(283-285)ctC>ctG p.L95L SLC6A7_ENST00000524041.1_Silent_p.L95L NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 95 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TCCTGGAGCTCTCCCTGGGCC 0.642000 39 115 0 0 0.007835 0 0 MUC16 94025 broad.mit.edu 37 19 9000195 9000195 + Missense_Mutation SNP T T C rs150399289 by1000genomes TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:9000195T>C ENST00000397910.4 - 55 40765 c.40562A>G c.(40561-40563)aAc>aGc p.N13521S MUC16_ENST00000380951.5_Missense_Mutation_p.N162S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13523 SEA 10. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AACACTGGTGTTCTTGAACAC 0.567000 30 39 0 0 0.009535 0 0 LTBP4 8425 broad.mit.edu 37 19 41125251 41125251 + Splice_Site SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:41125251G>A ENST00000308370.7 + 26 3268 c.e26-1 LTBP4_ENST00000602240.1_Splice_Site|LTBP4_ENST00000396819.3_Splice_Site|LTBP4_ENST00000204005.9_Splice_Site|LTBP4_ENST00000545697.1_Splice_Site|LTBP4_ENST00000243562.9_Splice_Site NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCTGCTTACAGATGTGAACGA 0.468000 38 104 0 0 0.006999 0 0 SCN2A 6326 broad.mit.edu 37 2 166210745 166210745 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:166210745C>T ENST00000357398.3 + 17 3253 c.2963C>T c.(2962-2964)tCt>tTt p.S988F SCN2A_ENST00000375427.2_Missense_Mutation_p.S988F|SCN2A_ENST00000283256.6_Missense_Mutation_p.S988F|SCN2A_ENST00000375437.2_Missense_Mutation_p.S988F Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 988 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TCCTTCAGTTCTGACAATCTT 0.383000 40 171 0 0 0.011902 0 0 LAT 27040 broad.mit.edu 37 16 28997455 28997455 + Splice_Site SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:28997455G>C ENST00000395456.2 + 4 485 c.e4-1 LAT_ENST00000564277.1_Splice_Site|LAT_ENST00000563964.1_Intron|LAT_ENST00000566177.1_Splice_Site|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000354453.4_Splice_Site|LAT_ENST00000360872.5_Splice_Site|LAT_ENST00000395461.3_Splice_Site|LAT_ENST00000454369.2_Splice_Site NM_001014987.1|NM_001014988.1|NM_014387.3 NP_001014987.1|NP_001014988.1|NP_055202.1 O43561 LAT_HUMAN linker for activation of T cells calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity large_intestine(2)|lung(3)|urinary_tract(1) 6 Hepatocellular(780;0.244) TGTGTCCTCAGACACGGTTGC 0.612000 36 83 0 0 0.006230 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681334 44681334 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:44681334C>T ENST00000381176.4 - 4 705 c.573G>A c.(571-573)ctG>ctA p.L191L NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 191 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) GGAAGGTCATCAGCGGTGGGC 0.607000 19 72 0 0 0.012319 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 21 0 0 0.001168 0 0 ALG11 440138 broad.mit.edu 37 13 52593181 52593181 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr13:52593181G>A ENST00000521508.1 + 2 182 c.177G>A c.(175-177)ggG>ggA p.G59G ALG11_ENST00000523764.1_Intron NM_001004127.2 NP_001004127.2 ALG11, alpha-1,2-mannosyltransferase endometrium(1)|large_intestine(6)|lung(4)|ovary(2) 13 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.44e-08) GCAAAAATGGGAAAAATCAAA 0.388000 16 39 0 0 0.003163 0 0 G6PD 2539 broad.mit.edu 37 X 153760233 153760233 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:153760233C>A ENST00000393562.2 - 13 2003 c.1620G>T c.(1618-1620)gtG>gtT p.V540V G6PD_ENST00000369620.2_Silent_p.V556V|G6PD_ENST00000393564.2_Silent_p.V510V NM_000402.3 NP_000393.4 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase 510 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4) 18 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGTGGGGGTTCACCCACTTGT 0.677000 7 9 8.12818e-05 8.39312e-05 0.001984 1 0 ZNF383 163087 broad.mit.edu 37 19 37726940 37726940 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:37726940A>G ENST00000589413.1 + 7 779 c.196A>G c.(196-198)Atg>Gtg p.M66V ZNF383_ENST00000590503.1_Missense_Mutation_p.M66V|ZNF383_ENST00000352998.3_Missense_Mutation_p.M66V Q8NA42 ZN383_HUMAN zinc finger protein 383 66 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGAGCCCTGGATGGTTGGCAG 0.498000 26 71 0 0 0.007291 0 0 GDPD3 79153 broad.mit.edu 37 16 30116264 30116264 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:30116264C>T ENST00000406256.3 - 10 1263 c.886G>A c.(886-888)Gtc>Atc p.V296I NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 296 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 TCCGTTATGACGCCAGTGGCT 0.567000 15 43 0 0 0.003163 0 0 MAP1A 4130 broad.mit.edu 37 15 43815940 43815940 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:43815940G>A ENST00000382031.1 + 5 3014 c.2983G>A c.(2983-2985)Gat>Aat p.D995N MAP1A_ENST00000399453.1_Missense_Mutation_p.D757N|MAP1A_ENST00000300231.5_Missense_Mutation_p.D757N P78559 MAP1A_HUMAN microtubule-associated protein 1A 757 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GGAGATCCATGATGAGCCGGA 0.562000 11 16 0 0 0.008291 0 0 AKAP13 11214 broad.mit.edu 37 15 86118486 86118486 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:86118486C>G ENST00000394518.2 + 6 882 c.787C>G c.(787-789)Cat>Gat p.H263D AKAP13_ENST00000361243.2_Missense_Mutation_p.H263D NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 263 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TGATTCACATCATGAACACCC 0.393000 33 91 0 0 0.003271 0 0 GRAMD2 196996 broad.mit.edu 37 15 72460095 72460095 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:72460095G>T ENST00000309731.7 - 5 367 c.354C>A c.(352-354)ctC>ctA p.L118L NM_001012642.2 NP_001012660.1 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 118 GRAM. integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 CCTTGCCAAAGAGGCTGGCAT 0.597000 16 63 6.94344e-10 7.42133e-10 0.006122 1 0 MALAT1 378938 broad.mit.edu 37 11 65271805 65271805 + RNA SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65271805G>C ENST00000534336.1 + 0 6573 NR_002819.2 AGACTTCACAGAGAATGCAGT 0.413000 6 21 0 0 0.001168 0 0 SOD1 6647 broad.mit.edu 37 21 33031995 33031995 + Translation_Start_Site SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:33031995G>A ENST00000270142.6 + 0 61 SOD1_ENST00000389995.4_De_novo_Start_InFrame NM_000454.4 NP_000445.1 P00441 SODC_HUMAN superoxide dismutase 1, soluble activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding NS(1)|endometrium(2)|kidney(1) 4 GCGGAGACGGGGTGCTGGTTT 0.662000 5 9 0 0 0.000602 0 0 WWP2 11060 broad.mit.edu 37 16 69874159 69874159 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:69874159G>C ENST00000359154.2 + 5 572 c.471G>C c.(469-471)ctG>ctC p.L157L WWP2_ENST00000356003.2_Silent_p.L157L|WWP2_ENST00000448661.1_Silent_p.L157L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Silent_p.L41L|WWP2_ENST00000569174.1_Silent_p.L157L NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 157 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCAGTGCCCTGACAGATGGTG 0.602000 3 68 0 0 0.009096 0 0 BRD9 65980 broad.mit.edu 37 5 887482 887482 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:887482C>T ENST00000323510.4 - 3 362 c.363G>A c.(361-363)atG>atA p.M121I BRD9_ENST00000388890.4_Missense_Mutation_p.M121I|BRD9_ENST00000467963.1_Missense_Mutation_p.M237I|BRD9_ENST00000435709.2_Missense_Mutation_p.M121I|BRD9_ENST00000483173.1_Missense_Mutation_p.M184I Q9H8M2 BRD9_HUMAN bromodomain containing 9 237 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) TTACTTTGCTCATCATCTTAA 0.507000 18 158 0 0 0.008871 0 0 ESRRG 2104 broad.mit.edu 37 1 216850530 216850530 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:216850530G>A ENST00000391890.3 - 4 808 c.291C>T c.(289-291)ctC>ctT p.L97L ESRRG_ENST00000408911.3_Silent_p.L120L|ESRRG_ENST00000493603.1_Silent_p.L97L|ESRRG_ENST00000359162.2_Silent_p.L97L|ESRRG_ENST00000360012.3_Silent_p.L97L|ESRRG_ENST00000361525.3_Silent_p.L97L|ESRRG_ENST00000366938.2_Silent_p.L97L|ESRRG_ENST00000493748.1_Silent_p.L97L|ESRRG_ENST00000463665.1_Silent_p.L97L|ESRRG_ENST00000361395.2_Silent_p.L97L|ESRRG_ENST00000366937.1_Silent_p.L125L|ESRRG_ENST00000366940.2_Silent_p.L97L|ESRRG_ENST00000487276.1_Silent_p.L97L NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 120 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) GCATCGAGTTGAGCATGTATT 0.502000 23 103 0 0 0.003954 0 0 ATMIN 23300 broad.mit.edu 37 16 81078338 81078338 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:81078338C>G ENST00000566488.1 + 3 2730 c.1767C>G c.(1765-1767)gtC>gtG p.V589V ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Silent_p.V589V|ATMIN_ENST00000299575.4_Silent_p.V745V O43313 ATMIN_HUMAN ATM interactor 745 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 CTGAAGGAGTCTCCACTGCTA 0.453000 10 97 0 0 0.006214 0 0 IGHV3-7 28452 broad.mit.edu 37 14 106518403 106518403 + RNA SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:106518403C>T ENST00000390598.2 - 0 426 CTGTGTCTCTCGCACAGTAAT 0.577000 19 280 0 0 0.002780 0 0 MLNR 2862 broad.mit.edu 37 13 49796350 49796350 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr13:49796350C>T ENST00000218721.1 + 2 1076 c.1076C>T c.(1075-1077)tCa>tTa p.S359L MLNR_ENST00000398307.1_3'UTR NM_001507.1 NP_001498.1 O43193 MTLR_HUMAN motilin receptor 359 digestion integral to plasma membrane growth hormone-releasing hormone receptor activity endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1) 14 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) AACCTCATTTCAAAGAAGTAC 0.512000 37 105 0 0 0.007835 0 0 RUFY3 22902 broad.mit.edu 37 4 71660553 71660553 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:71660553G>A ENST00000381006.3 + 14 2078 c.1499G>A c.(1498-1500)aGa>aAa p.R500K RUFY3_ENST00000502653.1_Missense_Mutation_p.R447K NM_001037442.2 NP_001032519.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 335 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) AAAGAAAGAAGATTACAAAAC 0.373000 6 90 0 0 0.001984 0 0 MYO7A 4647 broad.mit.edu 37 11 76873901 76873901 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:76873901C>T ENST00000409709.3 + 14 1829 c.1557C>T c.(1555-1557)ggC>ggT p.G519G MYO7A_ENST00000409893.1_Silent_p.G519G|MYO7A_ENST00000409619.2_Silent_p.G508G|MYO7A_ENST00000458637.2_Silent_p.G519G NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 519 Myosin head-like. G -> D (in USH1B; the deleterious effect remains to be proven). actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CTCCCCAGGGCACAGACACCA 0.597000 38 87 0 0 0.004289 0 0 KIAA1551 55196 broad.mit.edu 37 12 32135670 32135670 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:32135670C>G ENST00000312561.4 + 4 2195 c.1781C>G c.(1780-1782)aCt>aGt p.T594S KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 GCACGTAAGACTCAGAAGACA 0.358000 11 16 0 0 0.010729 0 0 MCM7 4176 broad.mit.edu 37 7 99696309 99696309 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:99696309G>A ENST00000303887.5 - 6 1257 c.612C>T c.(610-612)atC>atT p.I204I MCM7_ENST00000354230.3_Silent_p.I28I|MCM7_ENST00000343023.6_Silent_p.I204I NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 204 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) TTGGGCACATGATCAGAGGCA 0.517000 25 88 0 0 0.003330 0 0 HERC2 8924 broad.mit.edu 37 15 28463722 28463722 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:28463722G>A ENST00000261609.7 - 38 6049 c.5941C>T c.(5941-5943)Cat>Tat p.H1981Y NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1981 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 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) ATCTCAGCATGAACTCCAGCA 0.458000 37 71 0 0 0.005524 0 0 ARRDC3 57561 broad.mit.edu 37 5 90670857 90670857 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:90670857C>T ENST00000265138.3 - 5 1018 c.752G>A c.(751-753)cGt>cAt p.R251H NM_020801.2 NP_065852.1 Q96B67 ARRD3_HUMAN arrestin domain containing 3 251 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GGATTCCCCACGCAAGTTAGC 0.468000 13 66 0 0 0.001855 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091557 143091557 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:143091557C>T ENST00000367603.2 - 5 5061 c.4319G>A c.(4318-4320)cGa>cAa p.R1440Q HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1440Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.R1440Q NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AGAAAGCATTCGCTTGCTACC 0.517000 23 57 0 0 0.002780 0 0 MAP4K1 11184 broad.mit.edu 37 19 39101700 39101700 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:39101700C>G ENST00000591517.1 - 11 829 c.801G>C c.(799-801)aaG>aaC p.K267N MAP4K1_ENST00000396857.2_Missense_Mutation_p.K267N|MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000589130.1_Missense_Mutation_p.K263N|MAP4K1_ENST00000586296.1_Missense_Mutation_p.K267N|MAP4K1_ENST00000589002.1_Intron NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 267 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CACTGAGCATCTTGGTGGCGC 0.532000 6 16 0 0 0.001168 0 0 FBN2 2201 broad.mit.edu 37 5 127599217 127599217 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:127599217C>G ENST00000508053.1 - 69 9066 c.8092G>C c.(8092-8094)Gag>Cag p.E2698Q FBN2_ENST00000262464.4_Missense_Mutation_p.E2698Q P35556 FBN2_HUMAN fibrillin 2 2698 EGF-like 47; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GACGAGCACTCATTCACGTCG 0.602000 43 127 0 0 0.010771 0 0 GATAD2B 57459 broad.mit.edu 37 1 153790563 153790563 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:153790563G>A ENST00000368655.4 - 5 925 c.682C>T c.(682-684)Cgg>Tgg p.R228W NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 228 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R228W(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCCCCAGGCCGAGAGGGAAGC 0.522000 46 129 0 0 0.010771 0 0 RARS 5917 broad.mit.edu 37 5 167922356 167922356 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:167922356G>C ENST00000231572.3 + 6 670 c.616G>C c.(616-618)Gag>Cag p.E206Q RARS_ENST00000538719.1_5'UTR NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 206 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TATAGCTAAAGAGATGCATGT 0.428000 3 161 0 0 0.004672 0 0 GNPDA1 10007 broad.mit.edu 37 5 141385711 141385711 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:141385711C>G ENST00000508177.1 - 3 1165 c.407G>C c.(406-408)gGa>gCa p.G136A GNPDA1_ENST00000500692.2_Missense_Mutation_p.G136A|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000503794.1_Missense_Mutation_p.G136A|GNPDA1_ENST00000311337.6_Missense_Mutation_p.G136A|GNPDA1_ENST00000458112.2_Missense_Mutation_p.G102A|GNPDA1_ENST00000513454.1_Missense_Mutation_p.G136A P46926 GNPI1_HUMAN glucosamine-6-phosphate deaminase 1 136 generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity central_nervous_system(1)|lung(1)|skin(3)|stomach(1) 6 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCTCACCTCCAACAAATAG 0.532000 25 76 0 0 0.002780 0 0 TRRAP 8295 broad.mit.edu 37 7 98545957 98545957 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:98545957G>C ENST00000359863.4 + 33 4850 c.4641G>C c.(4639-4641)ctG>ctC p.L1547L TRRAP_ENST00000446306.3_Silent_p.L1528L|TRRAP_ENST00000355540.3_Silent_p.L1529L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1547 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGGCGATGCTGATCGAGGTAA 0.512000 13 50 0 0 0.001855 0 0 RBM27 54439 broad.mit.edu 37 5 145651095 145651095 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:145651095C>G ENST00000265271.5 + 19 3012 c.2846C>G c.(2845-2847)tCt>tGt p.S949C RBM27_ENST00000506502.1_Missense_Mutation_p.S894C NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 949 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCATGTCCTCTCAAGGTCGA 0.478000 8 30 0 0 0.008291 0 0 AGL 178 broad.mit.edu 37 1 100366244 100366244 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:100366244C>G ENST00000294724.4 + 26 3893 c.3415C>G c.(3415-3417)Cta>Gta p.L1139V AGL_ENST00000370165.3_Missense_Mutation_p.L1139V|AGL_ENST00000361915.3_Missense_Mutation_p.L1139V|AGL_ENST00000361302.3_Missense_Mutation_p.L1123V|AGL_ENST00000361522.4_Missense_Mutation_p.L1122V|AGL_ENST00000370161.2_Missense_Mutation_p.L1123V|AGL_ENST00000370163.3_Missense_Mutation_p.L1139V NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1139 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CATTCCTAATCTACTGGGTGA 0.398000 37 151 0 0 0.006999 0 0 SCUBE2 57758 broad.mit.edu 37 11 9087482 9087482 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:9087482G>A ENST00000457346.2 - 7 880 c.806C>T c.(805-807)tCa>tTa p.S269L SCUBE2_ENST00000309263.3_Missense_Mutation_p.S269L|SCUBE2_ENST00000520467.1_Missense_Mutation_p.S269L|SCUBE2_ENST00000450649.2_Missense_Mutation_p.S269L Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 269 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) ATCCACCACTGATGTGGTGTT 0.522000 14 43 0 0 0.002450 0 0 ALPI 248 broad.mit.edu 37 2 233321905 233321905 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:233321905C>T ENST00000295463.3 + 5 598 c.521C>T c.(520-522)tCg>tTg p.S174L NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 174 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CAGCACGCCTCGCCAGCCGGC 0.627000 16 50 0 0 0.003163 0 0 LAMA3 3909 broad.mit.edu 37 18 21404467 21404467 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr18:21404467G>C ENST00000313654.9 + 21 2750 c.2509G>C c.(2509-2511)Gac>Cac p.D837H LAMA3_ENST00000399516.3_Missense_Mutation_p.D837H NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 837 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.D837N(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGTTTTGCAGACCCATTTTC 0.458000 31 75 0 0 0.009535 0 0 ALPK3 57538 broad.mit.edu 37 15 85407691 85407691 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:85407691G>A ENST00000258888.5 + 12 5291 c.5124G>A c.(5122-5124)ctG>ctA p.L1708L NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1708 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CACTGTATCTGATCTACCGGC 0.527000 35 59 0 0 0.004878 0 0 WDR35 57539 broad.mit.edu 37 2 20130163 20130163 + Nonsense_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:20130163T>A ENST00000345530.3 - 26 3263 c.3148A>T c.(3148-3150)Aag>Tag p.K1050* WDR35_ENST00000281405.4_Nonsense_Mutation_p.K1039*|WDR35_ENST00000416055.2_Nonsense_Mutation_p.K523* NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 1050 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCACCTGTCTTCAGTGCAGTG 0.433000 19 173 0 0 0.012213 0 0 BCKDK 10295 broad.mit.edu 37 16 31121565 31121565 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:31121565G>A ENST00000394951.1 + 7 1086 c.463G>A c.(463-465)Gtg>Atg p.V155M BCKDK_ENST00000219794.6_Missense_Mutation_p.V155M|BCKDK_ENST00000394950.3_Missense_Mutation_p.V155M|BCKDK_ENST00000287507.3_Missense_Mutation_p.V155M O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 155 branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity breast(1)|stomach(1) 2 CTGCCAGCTGGTGCGACAGCT 0.607000 18 66 0 0 0.004990 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959660 45959660 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:45959660G>C ENST00000400375.1 - 1 418 c.374C>G c.(373-375)tCt>tGt p.S125C TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 125 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 CTGGCAGCTAGACTGCTGGCA 0.617000 32 113 0 0 0.002836 0 0 DTD1 92675 broad.mit.edu 37 20 18724748 18724748 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:18724748C>G ENST00000377452.3 + 5 662 c.482C>G c.(481-483)tCa>tGa p.S161* NM_080820.4 NP_543010.3 Q8TEA8 DTD1_HUMAN D-tyrosyl-tRNA deacylase 1 161 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds large_intestine(4)|lung(1)|ovary(2) 7 aatCAGCTGTCAAAGCTCGAA 0.413000 5 8 0 0 0.000602 0 0 P4HB 5034 broad.mit.edu 37 17 79813047 79813047 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:79813047C>G ENST00000331483.4 - 4 817 c.595G>C c.(595-597)Gac>Cac p.D199H P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Missense_Mutation_p.D155H|P4HB_ENST00000576390.1_Intron NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide 199 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity p.D199H(1) NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) CCATCTTTGTCGAGCTGGTAT 0.542000 65 197 0 0 0.003610 0 0 FKBPL 63943 broad.mit.edu 37 6 32097143 32097143 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:32097143C>T ENST00000375156.3 - 2 685 c.415G>A c.(415-417)Gag>Aag p.E139K NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 139 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity GTCCAGCCCTCTGGCGGCCCT 0.562000 85 228 0 0 0.003610 0 0 NEK1 4750 broad.mit.edu 37 4 170523167 170523167 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:170523167G>A ENST00000439128.2 - 3 846 c.206C>T c.(205-207)tCa>tTa p.S69L NEK1_ENST00000512193.1_Missense_Mutation_p.S69L|NEK1_ENST00000511633.1_Missense_Mutation_p.S69L|NEK1_ENST00000507142.1_Missense_Mutation_p.S69L|NEK1_ENST00000510533.1_Missense_Mutation_p.S69L NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 69 Protein kinase. cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) ACCTTCAAATGATTCTCTATA 0.328000 13 75 0 0 0.001368 0 0 STEAP4 79689 broad.mit.edu 37 7 87913538 87913538 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:87913538G>A ENST00000380079.4 - 2 148 c.47C>T c.(46-48)tCa>tTa p.S16L AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.S16L|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.S16L|AC003991.3_ENST00000595121.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 16 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) TTGCTTTTCTGAAGAATTCAT 0.353000 10 34 0 0 0.008291 0 0 POLE 5426 broad.mit.edu 37 12 133248806 133248806 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:133248806C>T ENST00000320574.5 - 16 1832 c.1789G>A c.(1789-1791)Gaa>Aaa p.E597K POLE_ENST00000535270.1_Missense_Mutation_p.E570K NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 597 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTACCTCTTCAAAGTTGGTG 0.557000 DNA polymerases (catalytic subunits) 12 64 0 0 0.001368 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062393 76062393 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:76062393C>T ENST00000260045.3 - 5 1906 c.1801G>A c.(1801-1803)Gct>Act p.A601T NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 601 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 CATTTAAGAGCTTTGAGGTGC 0.413000 37 89 0 0 0.013114 0 0 ETS2 2114 broad.mit.edu 37 21 40194812 40194812 + Nonstop_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:40194812G>T ENST00000360214.3 + 11 1869 c.1409G>T c.(1408-1410)tGa>tTa p.*470L ETS2_ENST00000360938.3_Nonstop_Mutation_p.*470L NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 0 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) ACGGAGGACTGAGGTCGCCGG 0.657000 31 11 1.74807e-11 1.87852e-11 0.010818 1 0 MALAT1 378938 broad.mit.edu 37 11 65273372 65273372 + RNA SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65273372G>C ENST00000534336.1 + 0 8140 NR_002819.2 TTGAGTGGCTGAGAGGGCTTT 0.428000 21 65 0 0 0.012319 0 0 C1orf159 54991 broad.mit.edu 37 1 1019467 1019467 + Splice_Site SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:1019467C>T ENST00000482816.1 - 10 821 c.e10-1 C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000448924.1_Silent_p.E292E|C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379339.1_Silent_p.E292E|C1orf159_ENST00000294576.5_Silent_p.E256E|C1orf159_ENST00000379320.1_Silent_p.E256E Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 integral to membrane all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GACCCCACGTCTCGGGAACAG 0.647000 3 23 0 0 0.004672 0 0 PMPCA 23203 broad.mit.edu 37 9 139309033 139309033 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:139309033G>C ENST00000371717.3 + 5 475 c.466G>C c.(466-468)Gat>Cat p.D156H PMPCA_ENST00000371720.1_Intron|PMPCA_ENST00000399219.3_Intron NM_015160.1 NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 156 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) TGTGTCTGCTGATAGCAAAGG 0.572000 6 94 0 0 0.001168 0 0 FKBPL 63943 broad.mit.edu 37 6 32097257 32097257 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:32097257C>A ENST00000375156.3 - 2 571 c.301G>T c.(301-303)Gat>Tat p.D101Y NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 101 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity AAGCTCCCATCGGGGCAGTAC 0.517000 21 84 1.01871e-10 1.09177e-10 0.008871 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85500377 85500377 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:85500377C>T ENST00000393217.2 + 15 3422 c.3361C>T c.(3361-3363)Caa>Taa p.Q1121* NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1121 LRRCT. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) CCCACTTCTTCAAGAAACAAA 0.333000 11 61 0 0 0.010729 0 0 BIN3 55909 broad.mit.edu 37 8 22494439 22494439 + Nonsense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:22494439G>A ENST00000276416.6 - 3 162 c.94C>T c.(94-96)Cag>Tag p.Q32* BIN3_ENST00000399977.4_Silent_p.F4F|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000519513.1_Intron|BIN3_ENST00000520292.1_Nonsense_Mutation_p.Q32* NM_018688.4 NP_061158.1 Q9NQY0 BIN3_HUMAN bridging integrator 3 32 BAR. actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth cytoplasm|cytoskeleton cytoskeletal adaptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 9 Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143) BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) ACTCACTGCTGAAGTTTTCCA 0.547000 10 44 0 0 0.008291 0 0 SYDE1 85360 broad.mit.edu 37 19 15222217 15222217 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:15222217G>A ENST00000600252.1 + 2 1997 c.355G>A c.(355-357)Gag>Aag p.E119K SYDE1_ENST00000600440.1_Missense_Mutation_p.E395K|SYDE1_ENST00000342784.2_Missense_Mutation_p.E462K Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 462 Pro-rich. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1) 17 CTGCCTATCTGAGGACCTGTA 0.592000 4 56 0 0 0.009096 0 0 NACC1 112939 broad.mit.edu 37 19 13247207 13247207 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:13247207G>C ENST00000292431.4 + 3 1234 c.1108G>C c.(1108-1110)Gag>Cag p.E370Q NM_052876.3 NP_443108.1 Q96RE7 NACC1_HUMAN nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 370 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 TGAGAAGCTGGAGCTGGTGAC 0.662000 12 46 0 0 0.002450 0 0 MED16 10025 broad.mit.edu 37 19 873569 873569 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:873569G>C ENST00000312090.6 - 11 1935 c.1785C>G c.(1783-1785)gtC>gtG p.V595V MED16_ENST00000606828.1_5'UTR|MED16_ENST00000395808.3_Silent_p.V595V|MED16_ENST00000269814.4_Silent_p.V595V|MED16_ENST00000589119.1_Silent_p.V595V|MED16_ENST00000325464.1_Silent_p.V595V Q9Y2X0 MED16_HUMAN mediator complex subunit 16 595 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTTGATCATGACCTTGTCAA 0.572000 21 33 0 0 0.008871 0 0 IGF1R 3480 broad.mit.edu 37 15 99459287 99459287 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:99459287G>C ENST00000268035.6 + 9 2534 c.1923G>C c.(1921-1923)ctG>ctC p.L641L IGF1R_ENST00000558762.1_Silent_p.L641L NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 641 Fibronectin type-III 2. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ACGGCAACCTGAGTTACTACA 0.557000 33 105 0 0 0.002836 0 0 SMIM21 284274 broad.mit.edu 37 18 73122767 73122767 + Nonsense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr18:73122767G>C ENST00000382638.3 - 2 297 c.227C>G c.(226-228)tCa>tGa p.S76* SMIM21_ENST00000579022.1_3'UTR|RP11-321M21.3_ENST00000578340.1_Intron|RP11-321M21.3_ENST00000579386.1_Intron small integral membrane protein 21 TTTTCATCTTGAGCAGGGGAA 0.398000 4 15 0 0 0.009096 0 0 TOPORS 10210 broad.mit.edu 37 9 32542604 32542604 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:32542604C>T ENST00000360538.2 - 3 2035 c.1919G>A c.(1918-1920)aGa>aAa p.R640K TOPORS_ENST00000379858.1_Missense_Mutation_p.R575K NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 640 Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TTTGTCTCTTCTCCCTCTAGG 0.423000 80 236 0 0 0.003610 0 0 TBC1D31 93594 broad.mit.edu 37 8 124138784 124138784 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:124138784G>C ENST00000287380.1 + 13 1831 c.1741G>C c.(1741-1743)Gaa>Caa p.E581Q TBC1D31_ENST00000378080.2_Missense_Mutation_p.E476Q|TBC1D31_ENST00000522420.1_Missense_Mutation_p.E476Q|TBC1D31_ENST00000518805.1_Missense_Mutation_p.E214Q|TBC1D31_ENST00000327098.5_Missense_Mutation_p.E581Q|TBC1D31_ENST00000521676.1_Missense_Mutation_p.E458Q|TBC1D31_ENST00000309336.3_Missense_Mutation_p.E581Q NM_145647.3 NP_663622.2 TBC1 domain family, member 31 TGTGTTCTCAGAAGTGCTGAC 0.368000 14 28 0 0 0.002450 0 0 ESR2 2100 broad.mit.edu 37 14 64746790 64746790 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:64746790G>A ENST00000557772.1 - 2 443 c.444C>T c.(442-444)ttC>ttT p.F148F ESR2_ENST00000341099.4_Silent_p.F148F|ESR2_ENST00000267525.6_Silent_p.F148F|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000554572.1_Silent_p.F148F|ESR2_ENST00000555278.1_Silent_p.F148F|ESR2_ENST00000553796.1_Silent_p.F148F|ESR2_ENST00000542956.1_Silent_p.F148F|ESR2_ENST00000358599.5_Silent_p.F148F|ESR2_ENST00000357782.2_Silent_p.F148F|ESR2_ENST00000353772.3_Silent_p.F148F NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 148 Modulating. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) AGACAGCGCAGAAGTGAGCAT 0.478000 39 190 0 0 0.006230 0 0 ZNF546 339327 broad.mit.edu 37 19 40519724 40519724 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:40519724G>C ENST00000347077.4 + 7 763 c.547G>C c.(547-549)Gag>Cag p.E183Q ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.E157Q NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ACATGAATTTGAGAGACAAGA 0.358000 22 32 0 0 0.002299 0 0 CDKN1B 1027 broad.mit.edu 37 12 12874066 12874066 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:12874066C>A ENST00000396340.1 + 2 561 c.543C>A c.(541-543)ttC>ttA p.F181L CDKN1B_ENST00000477087.1_3'UTR|CDKN1B_ENST00000228872.4_3'UTR P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) 0 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) TCGCTGACTTCATGGAATGGA 0.328000 6 20 0.00116845 0.00120027 0.001168 1 0 MALAT1 378938 broad.mit.edu 37 11 65272327 65272327 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65272327G>A ENST00000534336.1 + 0 7095 NR_002819.2 AAGGGCCAGAGAAGCCAGACC 0.413000 12 31 0 0 0.002450 0 0 OCLM 10896 broad.mit.edu 37 1 186370311 186370311 + Nonstop_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:186370311G>C ENST00000574641.1 + 1 608 c.134G>C c.(133-135)tGa>tCa p.*45S C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000367470.3_Intron NM_022375.3 NP_071770.1 Q9Y5M6 TISR_HUMAN oculomedin 0 visual perception TTAGTACTTTGAAATTTTTGC 0.289000 8 21 0 0 0.003080 0 0 PTCH2 8643 broad.mit.edu 37 1 45295679 45295679 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:45295679C>G ENST00000447098.2 - 7 848 c.837G>C c.(835-837)ctG>ctC p.L279L PTCH2_ENST00000372192.3_Silent_p.L279L NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 279 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) AGCCCCCACTCAGCTCGTGAG 0.607000 Basal Cell Nevus syndrome 10 42 0 0 0.008291 0 0 TANC1 85461 broad.mit.edu 37 2 160087378 160087378 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:160087378C>T ENST00000263635.6 + 27 5678 c.5441C>T c.(5440-5442)tCt>tTt p.S1814F TANC1_ENST00000454300.1_Missense_Mutation_p.S1708F NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1814 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CCAGTCCACTCTCAAGAGAAC 0.463000 8 43 0 0 0.006214 0 0 ZMYM3 9203 broad.mit.edu 37 X 70470284 70470284 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:70470284C>T ENST00000373998.1 - 5 1768 c.1071G>A c.(1069-1071)aaG>aaA p.K357K ZMYM3_ENST00000373982.1_Silent_p.K359K|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373988.1_Silent_p.K359K|ZMYM3_ENST00000314425.5_Silent_p.K357K|ZMYM3_ENST00000373984.3_Silent_p.K359K|ZMYM3_ENST00000353904.2_Silent_p.K357K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Silent_p.K357K NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 357 multicellular organismal development nucleus DNA binding|zinc ion binding p.K357K(1) breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TCACGCACTTCTTGCAGAAGG 0.557000 4 2 0 0 0.009096 0 0 SPOCK1 6695 broad.mit.edu 37 5 136315065 136315065 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:136315065C>T ENST00000394945.1 - 10 1254 c.1085G>A c.(1084-1086)gGg>gAg p.G362E SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Missense_Mutation_p.G362E NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 362 Thyroglobulin type-1. cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAACTCATTCCCATATTTGTC 0.587000 4 104 0 0 0.009096 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17699613 17699613 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:17699613C>T ENST00000399080.2 - 1 93 c.70G>A c.(70-72)Gag>Aag p.E24K NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 24 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TCCGGGTCCTCAGGAGGCGTT 0.602000 40 109 0 0 0.004878 0 0 ANKRD17 26057 broad.mit.edu 37 4 73957704 73957704 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:73957704G>A ENST00000358602.4 - 29 5757 c.5641C>T c.(5641-5643)Ctt>Ttt p.L1881F ANKRD17_ENST00000330838.6_Missense_Mutation_p.L1630F|ANKRD17_ENST00000509867.2_Missense_Mutation_p.L1768F NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1881 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCTAATGGAAGAGAAACTGGA 0.483000 21 116 0 0 0.008871 0 0 TSPYL5 85453 broad.mit.edu 37 8 98289207 98289207 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:98289207C>G ENST00000322128.3 - 1 969 c.866G>C c.(865-867)aGa>aCa p.R289T NM_033512.2 NP_277047.2 Q86VY4 TSYL5_HUMAN TSPY-like 5 289 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 20 Breast(36;2.56e-06) GTAGCCCAATCTGGCAAGGCC 0.473000 27 69 0 0 0.004656 0 0 DMD 1756 broad.mit.edu 37 X 32398771 32398771 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:32398771C>A ENST00000357033.4 - 34 4907 c.4701G>T c.(4699-4701)gaG>gaT p.E1567D DMD_ENST00000378677.2_Missense_Mutation_p.E1563D NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1567 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCAAGCATTTCTCCAACTGTT 0.338000 23 17 1.28384e-07 1.35393e-07 0.012319 1 0 FUBP3 8939 broad.mit.edu 37 9 133507625 133507625 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:133507625C>A ENST00000319725.9 + 16 1545 c.1470C>A c.(1468-1470)agC>agA p.S490R NM_003934.1 NP_003925.1 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 490 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) GCTGGGGCAGCACCTACCAGG 0.622000 12 32 4.3838e-07 4.60474e-07 0.001855 1 0 AKAP3 10566 broad.mit.edu 37 12 4736776 4736776 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:4736776C>G ENST00000545990.2 - 5 1816 c.1292G>C c.(1291-1293)aGa>aCa p.R431T AKAP3_ENST00000228850.1_Missense_Mutation_p.R431T NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 431 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 CATTTTTTCTCTCAATTTAGT 0.408000 21 108 0 0 0.008871 0 0 VPS13C 54832 broad.mit.edu 37 15 62228879 62228879 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:62228879G>A ENST00000261517.5 - 48 5745 c.5672C>T c.(5671-5673)tCa>tTa p.S1891L VPS13C_ENST00000395896.4_Missense_Mutation_p.S1891L|VPS13C_ENST00000395898.3_Missense_Mutation_p.S1848L|VPS13C_ENST00000249837.3_Missense_Mutation_p.S1848L NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1891 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GCTTGGTTGTGAGGAAGCTTC 0.373000 8 18 0 0 0.003080 0 0 CERS3 204219 broad.mit.edu 37 15 100943007 100943007 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:100943007C>G ENST00000284382.4 - 13 1486 c.1063G>C c.(1063-1065)Gag>Cag p.E355Q CERS3_ENST00000394113.1_Missense_Mutation_p.E355Q|CERS3_ENST00000560944.1_5'UTR|CERS3_ENST00000538112.2_Missense_Mutation_p.E355Q|RP11-168G16.2_ENST00000560718.1_RNA|RP11-168G16.2_ENST00000560643.1_RNA NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 355 Poly-Glu. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TTGGTAGcctcttcttcttcc 0.483000 7 23 0 0 0.003080 0 0 PRND 23627 broad.mit.edu 37 20 4705248 4705248 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:4705248C>G ENST00000305817.2 + 2 122 c.51C>G c.(49-51)ctC>ctG p.L17L NM_012409.2 NP_036541.2 Q9UKY0 PRND_HUMAN prion protein 2 (dublet) 17 protein homooligomerization anchored to membrane|plasma membrane breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 13 GCATGCTGCTCTTCAGCCACC 0.632000 23 64 0 0 0.002299 0 0 ZNF385B 151126 broad.mit.edu 37 2 180634445 180634445 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:180634445T>C ENST00000410066.1 - 3 641 c.38A>G c.(37-39)aAg>aGg p.K13R NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 13 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) CTTTATCCCCTTTTCTTCAAA 0.423000 3 87 0 0 0.004672 0 0 BMPR2 659 broad.mit.edu 37 2 203395617 203395617 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:203395617G>A ENST00000374580.4 + 8 1607 c.1068G>A c.(1066-1068)atG>atA p.M356I BMPR2_ENST00000374574.2_Missense_Mutation_p.M356I NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 356 Protein kinase. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 GACTGTCCATGAGGCTGACTG 0.418000 9 23 0 0 0.008291 0 0 CCDC80 151887 broad.mit.edu 37 3 112358405 112358405 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:112358405C>T ENST00000206423.3 - 2 1301 c.348G>A c.(346-348)gaG>gaA p.E116E CCDC80_ENST00000439685.2_Silent_p.E116E|CCDC80_ENST00000475181.1_5'UTR NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 116 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 CTCTGATCATCTCACGCGGAG 0.602000 27 108 0 0 0.008361 0 0 FAM151A 338094 broad.mit.edu 37 1 55081832 55081832 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:55081832G>T ENST00000302250.2 - 3 436 c.276C>A c.(274-276)gtC>gtA p.V92V FAM151A_ENST00000371304.2_Silent_p.V92V|ACOT11_ENST00000371316.3_Intron NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 92 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CAGCCTCCAGGACTGTGATGT 0.453000 29 69 1.74807e-11 1.87852e-11 0.010818 1 0 SVIL 6840 broad.mit.edu 37 10 29821937 29821937 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr10:29821937C>A ENST00000375398.2 - 10 1808 c.1359G>T c.(1357-1359)aaG>aaT p.K453N SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.K453N O95425 SVIL_HUMAN supervillin 453 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) GTAGGGTTTTCTTGCTTTGCT 0.483000 25 38 0.00106085 0.00109116 0.006320 1 0 TRIP11 9321 broad.mit.edu 37 14 92469811 92469811 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92469811C>T ENST00000267622.4 - 11 4882 c.4509G>A c.(4507-4509)atG>atA p.M1503I NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1503 M -> V (in dbSNP:rs34839498). transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CCTTCTCCTTCATTGAGTGGC 0.413000 T PDGFRB AML 15 64 0 0 0.003163 0 0 SDK1 221935 broad.mit.edu 37 7 4213926 4213926 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:4213926G>T ENST00000404826.2 + 33 5012 c.4873G>T c.(4873-4875)Gcc>Tcc p.A1625S SDK1_ENST00000389531.3_Missense_Mutation_p.A1625S NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1625 Fibronectin type-III 10. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGAGTATGAAGCCGGGTCAGG 0.552000 42 256 1.38658e-30 1.53805e-30 0.003610 1 0 GPR179 440435 broad.mit.edu 37 17 36499096 36499096 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:36499096C>T ENST00000342292.4 - 1 597 c.577G>A c.(577-579)Gac>Aac p.D193N NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 193 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GCAGGGGTGTCCAGGTCCCCA 0.637000 18 77 0 0 0.006122 0 0 LYPLAL1 127018 broad.mit.edu 37 1 219384873 219384873 + Nonsense_Mutation SNP C C T rs140122550 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:219384873C>T ENST00000366928.5 + 5 564 c.517C>T c.(517-519)Cag>Tag p.Q173* LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.Q157* NM_138794.3 NP_620149.1 Q5VWZ2 LYPL1_HUMAN lysophospholipase-like 1 173 cytoplasm lysophospholipase activity large_intestine(1)|lung(5) 6 GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116) TGAATTATTTCAGTGTCATGG 0.353000 29 104 0 0 0.007291 0 0 MALAT1 378938 broad.mit.edu 37 11 65272949 65272949 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65272949G>A ENST00000534336.1 + 0 7717 NR_002819.2 GGGAAAGGGGGAAAGCGGGCA 0.488000 19 87 0 0 0.010504 0 0 VSTM2L 128434 broad.mit.edu 37 20 36572481 36572481 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:36572481C>T ENST00000373459.4 + 2 460 c.220C>T c.(220-222)Cag>Tag p.Q74* VSTM2L_ENST00000373458.3_Silent_p.F130F|VSTM2L_ENST00000373461.4_Silent_p.F147F Q96N03 VTM2L_HUMAN V-set and transmembrane domain containing 2 like 0 Ig-like. central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.00878) TCATCGACTTCAGCGACGGCA 0.672000 8 20 0 0 0.004482 0 0 SSFA2 6744 broad.mit.edu 37 2 182763789 182763789 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:182763789G>A ENST00000431877.2 + 6 632 c.453G>A c.(451-453)ggG>ggA p.G151G SSFA2_ENST00000409001.1_Silent_p.G151G|SSFA2_ENST00000320370.7_Silent_p.G151G|SSFA2_ENST00000428267.2_5'UTR NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 151 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) ATCAGAAAGGGAGAAGTATGA 0.323000 5 27 0 0 0.001168 0 0 GATA6 2627 broad.mit.edu 37 18 19761413 19761413 + Splice_Site SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr18:19761413G>A ENST00000269216.3 + 4 1579 c.e4-1 GATA6_ENST00000581694.1_Splice_Site NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) ACTGTTTCTAGCCTTCATCAC 0.418000 11 44 0 0 0.010729 0 0 ALPK3 57538 broad.mit.edu 37 15 85370749 85370749 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:85370749G>C ENST00000258888.5 + 3 990 c.823G>C c.(823-825)Gag>Cag p.E275Q NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 275 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCAGCTCACAGAGGAGACCCA 0.562000 6 46 0 0 0.001168 0 0 TICRR 90381 broad.mit.edu 37 15 90144539 90144539 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:90144539C>G ENST00000268138.7 + 10 2269 c.2164C>G c.(2164-2166)Cag>Gag p.Q722E TICRR_ENST00000560985.1_Missense_Mutation_p.Q721E TOPBP1-interacting checkpoint and replication regulator GTGCCAGCTTCAGGTATTTCT 0.373000 6 34 0 0 0.001984 0 0 YTHDC2 64848 broad.mit.edu 37 5 112889016 112889016 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:112889016C>T ENST00000161863.4 + 13 2040 c.1827C>T c.(1825-1827)atC>atT p.I609I YTHDC2_ENST00000515883.1_Silent_p.I609I NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 609 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TGGATTTGATCATGCATCTTC 0.343000 9 21 0 0 0.008291 0 0 TRIP11 9321 broad.mit.edu 37 14 92471131 92471131 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92471131C>T ENST00000267622.4 - 11 3562 c.3189G>A c.(3187-3189)caG>caA p.Q1063Q NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1063 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CCAAATCTTTCTGCTGAATAA 0.343000 T PDGFRB AML 14 42 0 0 0.002450 0 0 RNF169 254225 broad.mit.edu 37 11 74546869 74546869 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:74546869C>G ENST00000299563.4 + 6 1234 c.1221C>G c.(1219-1221)atC>atG p.I407M NM_001098638.1 NP_001092108.1 Q8NCN4 RN169_HUMAN ring finger protein 169 407 zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 15 CTCTCATCATCAAATCAACTC 0.493000 38 120 0 0 0.006230 0 0 OGFOD3 79701 broad.mit.edu 37 17 80352382 80352382 + Missense_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:80352382T>A ENST00000329197.5 - 9 951 c.861A>T c.(859-861)caA>caT p.Q287H OGFOD3_ENST00000313056.5_Intron 2-oxoglutarate and iron-dependent oxygenase domain containing 3 CATTAACTTCTTGGAACCCAC 0.582000 18 68 0 0 0.010504 0 0 TGFBR2 7048 broad.mit.edu 37 3 30691947 30691947 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:30691947C>G ENST00000295754.5 + 3 831 c.449C>G c.(448-450)tCa>tGa p.S150* TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S175* NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 150 activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 ATCATCTTCTCAGAAGGTGAG 0.433000 17 42 0 0 0.004990 0 0 WDR35 57539 broad.mit.edu 37 2 20130164 20130164 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:20130164C>T ENST00000345530.3 - 26 3262 c.3147G>A c.(3145-3147)ctG>ctA p.L1049L WDR35_ENST00000281405.4_Silent_p.L1038L|WDR35_ENST00000416055.2_Silent_p.L522L NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 1049 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACCTGTCTTCAGTGCAGTGT 0.438000 18 174 0 0 0.010818 0 0 LRRC41 10489 broad.mit.edu 37 1 46745255 46745255 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:46745255C>T ENST00000343304.6 - 8 2337 c.2052G>A c.(2050-2052)gaG>gaA p.E684E LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 684 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) CTGGGCGCTTCTCAAACAGAC 0.552000 45 132 0 0 0.011902 0 0 CEP250 11190 broad.mit.edu 37 20 34054793 34054793 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:34054793C>T ENST00000397527.1 + 8 1215 c.495C>T c.(493-495)ttC>ttT p.F165F CEP250_ENST00000397524.1_Silent_p.F165F|CEP250_ENST00000342580.4_Silent_p.F165F NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 165 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) ACACACAGTTCTTCAAGGGCT 0.522000 18 42 0 0 0.007413 0 0 ABCA2 20 broad.mit.edu 37 9 139910481 139910481 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:139910481C>T ENST00000265662.5 - 22 3397 c.3250G>A c.(3250-3252)Gaa>Aaa p.E1084K ABCA2_ENST00000371605.3_Missense_Mutation_p.E1083K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E1084K Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1083 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CAGAGGTGTTCCTCCACCGTG 0.622000 23 35 0 0 0.002299 0 0 DGKB 1607 broad.mit.edu 37 7 14613864 14613864 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:14613864G>A ENST00000403951.2 - 20 2165 c.1746C>T c.(1744-1746)atC>atT p.I582I DGKB_ENST00000444700.2_Silent_p.I563I|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Silent_p.I574I|DGKB_ENST00000406247.3_Silent_p.I582I|DGKB_ENST00000258767.5_Silent_p.I582I|DGKB_ENST00000402815.1_Silent_p.I581I|DGKB_ENST00000399322.3_Silent_p.I582I Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 582 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) AATTATTGATGATACTGTAAG 0.358000 4 160 0 0 0.001168 0 0 OR5H15 403274 broad.mit.edu 37 3 97887885 97887885 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:97887885C>G ENST00000356526.2 + 1 342 c.342C>G c.(340-342)ctC>ctG p.L114L NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 AATGTTTTCTCTTGGCAACAA 0.378000 35 122 0 0 0.002836 0 0 ITPR3 3710 broad.mit.edu 37 6 33656530 33656530 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:33656530C>G ENST00000374316.5 + 50 7726 c.6666C>G c.(6664-6666)ttC>ttG p.F2222L ITPR3_ENST00000605930.1_Missense_Mutation_p.F2222L Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 2222 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 TTGCCTTCTTCTACCCTTACA 0.612000 18 68 0 0 0.006122 0 0 TRIP11 9321 broad.mit.edu 37 14 92488028 92488028 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92488028G>A ENST00000267622.4 - 4 833 c.460C>T c.(460-462)Cct>Tct p.P154S NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 154 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) AAAGCTGAAGGATGATGACTA 0.433000 T PDGFRB AML 11 44 0 0 0.008291 0 0 SLC9A7 84679 broad.mit.edu 37 X 46472745 46472745 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:46472745C>G ENST00000328306.4 - 16 1930 c.1905G>C c.(1903-1905)ctG>ctC p.L635L SLC9A7_ENST00000464933.1_5'UTR NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 635 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 GGGGACTGGTCAGACATCGAG 0.512000 19 27 0 0 0.010504 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122958596 122958596 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:122958596C>T ENST00000543897.1 - 12 3213 c.858G>A c.(856-858)caG>caA p.Q286Q ZCCHC8_ENST00000536306.1_Silent_p.Q286Q|ZCCHC8_ENST00000538116.1_Silent_p.Q135Q|ZCCHC8_ENST00000336229.4_Silent_p.Q524Q Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 524 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) AGATCCGCCTCTGCTGTTCTT 0.572000 51 107 0 0 0.003610 0 0 MALAT1 378938 broad.mit.edu 37 11 65273364 65273364 + RNA SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65273364G>C ENST00000534336.1 + 0 8132 NR_002819.2 ATAGGCATTTGAGTGGCTGAG 0.423000 20 65 0 0 0.012319 0 0 APOB 338 broad.mit.edu 37 2 21238409 21238409 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:21238409G>A ENST00000233242.1 - 22 3468 c.3341C>T c.(3340-3342)aCa>aTa p.T1114I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1114 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCTTCCTTTGTGTCACAACT 0.423000 6 33 0 0 0.003080 0 0 SNRPA 6626 broad.mit.edu 37 19 41257373 41257373 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:41257373G>C ENST00000243563.3 + 1 610 c.60G>C c.(58-60)aaG>aaC p.K20N SNRPA_ENST00000599570.1_3'UTR NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 20 RRM 1. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TCAATGAGAAGATCAAGAAGG 0.522000 47 91 0 0 0.013114 0 0 TNFRSF10B 8795 broad.mit.edu 37 8 22886091 22886091 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:22886091G>T ENST00000276431.4 - 5 785 c.501C>A c.(499-501)gtC>gtA p.V167V TNFRSF10B_ENST00000542226.1_Silent_p.V16V|TNFRSF10B_ENST00000347739.3_Silent_p.V167V|TNFRSF10B_ENST00000519910.1_5'UTR NM_003842.4|NM_147187.2 NP_003833.4|NP_671716.2 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, member 10b 167 activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane caspase activator activity|receptor activity|TRAIL binding NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) TACAATCACCGACCTTGACCA 0.562000 32 96 9.78485e-24 1.08235e-23 0.002836 1 0 C16orf72 29035 broad.mit.edu 37 16 9210767 9210767 + Nonstop_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:9210767T>A ENST00000327827.7 + 4 1223 c.826T>A c.(826-828)Taa>Aaa p.*276K NM_014117.2 NP_054836.2 Q14CZ0 CP072_HUMAN chromosome 16 open reading frame 72 0 endometrium(4)|large_intestine(2)|lung(2) 8 CAGAATGATCTAAACTGCAAA 0.453000 14 84 0 0 0.004007 0 0 CXCR2 3579 broad.mit.edu 37 2 219000410 219000410 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:219000410C>T ENST00000318507.2 + 3 1313 c.886C>T c.(886-888)Ctg>Ttg p.L296L NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 296 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 CGACCGGGCTCTGGATGCCAC 0.587000 34 74 0 0 0.010818 0 0 ALPK3 57538 broad.mit.edu 37 15 85405874 85405874 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:85405874G>A ENST00000258888.5 + 10 4911 c.4744G>A c.(4744-4746)Gag>Aag p.E1582K NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1582 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGTTGGAGAAGAGATTGAGAT 0.572000 19 58 0 0 0.010504 0 0 RUNX1 861 broad.mit.edu 37 21 36171624 36171624 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:36171624G>A ENST00000344691.4 - 5 2437 c.860C>T c.(859-861)tCt>tTt p.S287F RUNX1_ENST00000399240.1_Missense_Mutation_p.S223F|RUNX1_ENST00000437180.1_Missense_Mutation_p.S314F|RUNX1_ENST00000325074.5_Missense_Mutation_p.S302F|RUNX1_ENST00000300305.3_Missense_Mutation_p.S314F NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 287 Pro/Ser/Thr-rich. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.S314fs*168(1) breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 AAGTTCTGCAGAGAGGGTTGT 0.532000 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 6 97 0 0 0.001984 0 0 KIAA1429 25962 broad.mit.edu 37 8 95508622 95508622 + Silent SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:95508622T>C ENST00000297591.5 - 18 4392 c.4317A>G c.(4315-4317)aaA>aaG p.K1439K KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1439 mRNA processing|RNA splicing nucleus p.K1439fs*18(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GTAGAAGCTGTTTTAACTCTG 0.393000 17 35 0 0 0.004990 0 0 SMC4 10051 broad.mit.edu 37 3 160137327 160137327 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:160137327G>T ENST00000357388.3 + 12 2304 c.1853G>T c.(1852-1854)aGa>aTa p.R618I RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.R618I|SMC4_ENST00000360111.2_Missense_Mutation_p.R618I|SMC4_ENST00000344722.5_Missense_Mutation_p.R618I|SMC4_ENST00000469762.1_Missense_Mutation_p.R593I NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 618 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ATATATGGAAGATTGGTAAAG 0.353000 7 65 8.12818e-05 8.39312e-05 0.001984 1 0 EGFR 1956 broad.mit.edu 37 7 55224337 55224337 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:55224337C>A ENST00000275493.2 + 9 1295 c.1118C>A c.(1117-1119)cCg>cAg p.P373Q EGFR_ENST00000344576.2_Missense_Mutation_p.P373Q|EGFR_ENST00000442591.1_Missense_Mutation_p.P373Q|EGFR_ENST00000342916.3_Missense_Mutation_p.P373Q|EGFR_ENST00000420316.2_Missense_Mutation_p.P373Q|EGFR_ENST00000455089.1_Missense_Mutation_p.P328Q|EGFR_ENST00000454757.2_Missense_Mutation_p.P320Q NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 373 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CACATCCTGCCGGTGGCATTT 0.403000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 13 57 1.3612e-06 1.42602e-06 0.003163 1 0 PGBD1 84547 broad.mit.edu 37 6 28251866 28251866 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:28251866C>G ENST00000405948.2 + 2 696 c.276C>G c.(274-276)ttC>ttG p.F92L PGBD1_ENST00000259883.3_Missense_Mutation_p.F92L NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 92 SCAN box. viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 TGGAGCAGTTCCTGACCATCC 0.537000 26 74 0 0 0.003954 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681333 44681333 + Missense_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:44681333T>A ENST00000381176.4 - 4 706 c.574A>T c.(574-576)Atg>Ttg p.M192L NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 192 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) TGGAAGGTCATCAGCGGTGGG 0.607000 19 71 0 0 0.002299 0 0 PSMG1 8624 broad.mit.edu 37 21 40549373 40549373 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:40549373C>G ENST00000331573.3 - 6 1245 c.780G>C c.(778-780)aaG>aaC p.K260N PSMG1_ENST00000380900.2_Missense_Mutation_p.K239N NM_001261824.1|NM_003720.3 NP_001248753.1|NP_003711.1 O95456 PSMG1_HUMAN proteasome (prosome, macropain) assembly chaperone 1 260 proteasome assembly endoplasmic reticulum protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 8 Prostate(19;8.44e-08) TAACCAAACCCTTCAAGCTTC 0.323000 8 21 0 0 0.003080 0 0 FASN 2194 broad.mit.edu 37 17 80044282 80044282 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:80044282G>C ENST00000306749.2 - 22 3798 c.3580C>G c.(3580-3582)Ctg>Gtg p.L1194V NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1194 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) TCCAGCTGCAGGTTCCCGTTG 0.697000 12 27 0 0 0.001855 0 0 ABCA2 20 broad.mit.edu 37 9 139913234 139913234 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:139913234C>T ENST00000265662.5 - 13 1903 c.1756G>A c.(1756-1758)Gag>Aag p.E586K ABCA2_ENST00000371605.3_Missense_Mutation_p.E585K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E586K|ABCA2_ENST00000492260.1_5'UTR Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 585 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ATGCTCTCCTCGTCGTGGAAG 0.652000 17 51 0 0 0.004007 0 0 DNAH10 196385 broad.mit.edu 37 12 124298073 124298073 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:124298073C>G ENST00000409039.3 + 19 3178 c.3153C>G c.(3151-3153)ctC>ctG p.L1051L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1051 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GACTTCAGCTCAGGCATCTGG 0.438000 11 36 0 0 0.008291 0 0 NUP155 9631 broad.mit.edu 37 5 37307413 37307413 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:37307413C>G ENST00000231498.3 - 25 3092 c.2889G>C c.(2887-2889)caG>caC p.Q963H NUP155_ENST00000381843.2_Missense_Mutation_p.Q904H|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.Q899H NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 963 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTGGAAGGCCTGAAGTCCAA 0.368000 12 65 0 0 0.001368 0 0 MAP1B 4131 broad.mit.edu 37 5 71494026 71494026 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:71494026G>C ENST00000296755.7 + 5 5142 c.4844G>C c.(4843-4845)aGa>aCa p.R1615T NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1615 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GAATGCCCAAGACCGATGTCA 0.438000 9 107 0 0 0.006214 0 0 AKR7L 246181 broad.mit.edu 37 1 19597298 19597298 + RNA SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:19597298C>T ENST00000420396.2 - 0 345 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 GCGCTGTGGTCAGGTGCATGT 0.622000 11 31 0 0 0.008291 0 0 C11orf84 144097 broad.mit.edu 37 11 63581231 63581231 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:63581231G>A ENST00000294244.4 + 1 372 c.73G>A c.(73-75)Gag>Aag p.E25K NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 25 endometrium(3)|kidney(1)|lung(3)|skin(1) 8 AGGGGAGGACGAGGAGGAGGC 0.677000 9 29 0 0 0.004482 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625408 140625408 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:140625408G>A ENST00000231173.3 + 1 262 c.262G>A c.(262-264)Gag>Aag p.E88K NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 88 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATATTAAATGAGAAGCTGGA 0.512000 5 68 0 0 0.001168 0 0 NACA 4666 broad.mit.edu 37 12 57111479 57111479 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57111479C>G ENST00000454682.1 - 3 4116 c.3835G>C c.(3835-3837)Gct>Cct p.A1279P NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GGTGGGGTAGCTAGACCTCCT 0.647000 T BCL6 NHL 27 76 0 0 0.005443 0 0 ZFP2 80108 broad.mit.edu 37 5 178358777 178358777 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:178358777G>C ENST00000361362.2 + 5 993 c.463G>C c.(463-465)Gag>Cag p.E155Q ZFP2_ENST00000523286.1_Missense_Mutation_p.E155Q|ZFP2_ENST00000520301.1_Missense_Mutation_p.E155Q|ZFP2_ENST00000503510.2_Missense_Mutation_p.E155Q NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TCATACTGGAGAGAAACCCTA 0.413000 17 52 0 0 0.007413 0 0 PRRT1 80863 broad.mit.edu 37 6 32118683 32118683 + Splice_Site SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:32118683C>T ENST00000211413.5 - 2 144 c.19_splice c.e2-1 p.G7_splice PRRT1_ENST00000375152.2_Intron|PRRT1_ENST00000375150.2_Intron NM_030651.3 NP_085154.3 Q99946 PRRT1_HUMAN proline-rich transmembrane protein 1 7 response to biotic stimulus integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(2) 6 GTCTGGGAGTCCTGGGGGAGG 0.607000 5 11 0 0 0.000602 0 0 BTBD6 90135 broad.mit.edu 37 14 105716079 105716079 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:105716079C>T ENST00000463376.2 + 3 844 c.303C>T c.(301-303)gtC>gtT p.V101V BRF1_ENST00000327359.3_Intron|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000392554.3_Silent_p.V176V|BTBD6_ENST00000536364.1_Silent_p.V176V|BTBD6_ENST00000327471.3_Silent_p.V101V|BRF1_ENST00000379937.2_Intron Q96KE9 BTBD6_HUMAN BTB (POZ) domain containing 6 176 BTB. cytoplasmic mRNA processing body endometrium(1)|lung(3) 4 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) AAGCCTGTGTCAACTTTCTGG 0.567000 6 62 0 0 0.001168 0 0 ZZEF1 23140 broad.mit.edu 37 17 4009037 4009037 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:4009037G>C ENST00000381638.2 - 7 1468 c.1344C>G c.(1342-1344)ctC>ctG p.L448L ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 448 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CATTAGGGGAGAGGAAAGTTG 0.453000 15 40 0 0 0.004990 0 0 SLC6A14 11254 broad.mit.edu 37 X 115585606 115585606 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:115585606C>T ENST00000371900.4 + 10 1490 c.1402C>T c.(1402-1404)Cag>Tag p.Q468* NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 468 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) CTGTGTGACTCAGGTATACTA 0.358000 17 21 0 0 0.006122 0 0 RSG1 79363 broad.mit.edu 37 1 16563180 16563180 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:16563180C>T ENST00000375599.3 - 1 477 c.58G>A c.(58-60)Gag>Aag p.E20K NM_030907.3 NP_112169.2 Q9BU20 RSG1_HUMAN REM2 and RAB-like small GTPase 1 20 cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction cilium|microtubule basal body GTP binding large_intestine(2)|lung(2)|pancreas(1)|prostate(1) 6 TCCTTGCCCTCGGCACTCTCG 0.632000 3 5 0 0 0.004672 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89416899 89416899 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:89416899G>A ENST00000490686.1 - 0 311 TGCTGATTGTGAGAGTGAATT 0.498000 12 167 0 0 0.001855 0 0 XAF1 54739 broad.mit.edu 37 17 6665494 6665494 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:6665494G>A ENST00000361842.3 + 5 681 c.442G>A c.(442-444)Gaa>Aaa p.E148K XAF1_ENST00000441631.1_Missense_Mutation_p.E148K|XAF1_ENST00000346752.4_Missense_Mutation_p.E129K NM_017523.3 NP_059993.2 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 148 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 6 TTCAGCTCCTGAAAGGGAAAT 0.408000 12 19 0 0 0.010729 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457692 15457692 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:15457692G>T ENST00000360151.4 - 8 876 c.877C>A c.(877-879)Ctt>Att p.L293I NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGGGTGGAAGGGGAGTGAGC 0.582000 7 63 9.70103e-10 1.03547e-09 0.008291 1 0 ATPAF2 91647 broad.mit.edu 37 17 17921887 17921887 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:17921887G>C ENST00000474627.3 - 8 1000 c.846C>G c.(844-846)gtC>gtG p.V282V ATPAF2_ENST00000585101.1_Intron NM_145691.3 NP_663729.1 Q8N5M1 ATPF2_HUMAN ATP synthase mitochondrial F1 complex assembly factor 2 282 proton-transporting ATP synthase complex assembly mitochondrion|nuclear speck protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 8 all_neural(463;0.228) GCTTGTGCTTGACTGTGGTGC 0.642000 25 74 0 0 0.004656 0 0 GRHL1 29841 broad.mit.edu 37 2 10132193 10132193 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:10132193C>G ENST00000324907.9 + 11 1516 c.1380C>G c.(1378-1380)ttC>ttG p.F460L GRHL1_ENST00000405379.2_Missense_Mutation_p.F460L|GRHL1_ENST00000324883.5_Missense_Mutation_p.F271L NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 460 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TCACAGTTTTCAAACCCTTCA 0.433000 4 26 0 0 0.009096 0 0 NT5C3A 51251 broad.mit.edu 37 7 33060909 33060909 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:33060909C>G ENST00000396152.2 - 6 615 c.313G>C c.(313-315)Gag>Cag p.E105Q NT5C3A_ENST00000405342.1_Missense_Mutation_p.E105Q|NT5C3A_ENST00000409787.1_Missense_Mutation_p.E105Q|NT5C3A_ENST00000409467.1_Missense_Mutation_p.E93Q|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000242210.7_Missense_Mutation_p.E144Q|NT5C3A_ENST00000381626.2_Missense_Mutation_p.E93Q NM_016489.12 NP_057573.2 5'-nucleotidase, cytosolic IIIA GGGTACTTCTCTTCTACAGTA 0.313000 19 68 0 0 0.007413 0 0 HRC 3270 broad.mit.edu 37 19 49657579 49657579 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:49657579C>G ENST00000252825.4 - 1 1102 c.916G>C c.(916-918)Gat>Cat p.D306H HRC_ENST00000595625.1_Missense_Mutation_p.D306H NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 306 4 X tandem repeats, acidic.|6 X approximate tandem repeats. muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) TCATCATCATCATTGTCATCT 0.532000 17 55 0 0 0.004990 0 0 ARMC2 84071 broad.mit.edu 37 6 109285456 109285456 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:109285456C>T ENST00000392644.4 + 16 2394 c.2226C>T c.(2224-2226)ctC>ctT p.L742L ARMC2_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Silent_p.L577L NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 742 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) GTGTTCTCCTCAATCTCACTG 0.473000 9 25 0 0 0.006214 0 0 EPYC 1833 broad.mit.edu 37 12 91358091 91358091 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:91358091G>A ENST00000261172.3 - 7 903 c.811C>T c.(811-813)Ctg>Ttg p.L271L NM_004950.4 NP_004941.2 Q99645 EPYC_HUMAN epiphycan 271 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2) 18 TGCATTTCCAGAATGTTGTTA 0.338000 5 22 0 0 0.000602 0 0 INPP5D 3635 broad.mit.edu 37 2 234091127 234091127 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:234091127C>A ENST00000359570.5 + 21 2107 c.2107C>A c.(2107-2109)Cag>Aag p.Q703K INPP5D_ENST00000455936.2_Missense_Mutation_p.Q467K|INPP5D_ENST00000450745.1_Missense_Mutation_p.Q467K|INPP5D_ENST00000538935.1_3'UTR Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 715 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) AGTCACTTCCCAGTTTGTCTC 0.507000 18 65 1.33834e-09 1.42468e-09 0.007413 1 0 GALNT10 55568 broad.mit.edu 37 5 153760021 153760021 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:153760021G>A ENST00000297107.6 + 6 905 c.768G>A c.(766-768)cgG>cgA p.R256R GALNT10_ENST00000377661.2_Silent_p.R194R|GALNT10_ENST00000425427.2_Silent_p.R256R|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 256 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GCATTGCTCGGAACCGCAAGA 0.512000 43 126 0 0 0.009718 0 0 NUP37 79023 broad.mit.edu 37 12 102471251 102471251 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:102471251G>A ENST00000552283.1 - 7 710 c.571C>T c.(571-573)Cgg>Tgg p.R191W NUP37_ENST00000251074.1_Missense_Mutation_p.R191W Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 191 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding endometrium(3)|large_intestine(3)|lung(10)|ovary(1) 17 TCATAAAACCGGATTGTTCCA 0.368000 20 62 0 0 0.007413 0 0 UBQLN1 29979 broad.mit.edu 37 9 86276731 86276731 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:86276731C>T ENST00000376395.4 - 11 2264 c.1741G>A c.(1741-1743)Gaa>Aaa p.E581K UBQLN1_ENST00000257468.7_Missense_Mutation_p.E553K NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 581 UBA. apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 AGTAACCTTTCAATAGCTGCA 0.383000 24 69 0 0 0.003330 0 0 TRIP11 9321 broad.mit.edu 37 14 92470704 92470704 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92470704C>T ENST00000267622.4 - 11 3989 c.3616G>A c.(3616-3618)Gag>Aag p.E1206K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1206 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TGTAGAAGCTCCTCAAATTGA 0.398000 T PDGFRB AML 16 64 0 0 0.004990 0 0 DPYSL4 10570 broad.mit.edu 37 10 134012379 134012379 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr10:134012379G>A ENST00000338492.4 + 8 879 c.715G>A c.(715-717)Gct>Act p.A239T DPYSL4_ENST00000368629.1_Missense_Mutation_p.A139T|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A139T NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 239 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GGTGTACCGAGCTGTCACCAT 0.657000 4 41 0 0 0.009096 0 0 CACNA2D1 781 broad.mit.edu 37 7 81662153 81662153 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:81662153C>T ENST00000356860.3 - 12 1441 c.1103G>A c.(1102-1104)aGa>aAa p.R368K CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R368K|CACNA2D1_ENST00000464354.1_5'UTR NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 368 VWFA. voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTCCTGGGCTCTCTCTTCTCC 0.279000 13 24 0 0 0.002450 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79973108 79973108 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:79973108C>G ENST00000306729.7 + 13 1608 c.1511C>G c.(1510-1512)tCt>tGt p.S504C ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Intron|ASPSCR1_ENST00000580534.1_Intron NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 500 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GGCCGAGCCTCTCCAAGCACT 0.632000 T TFE3 alveolar soft part sarcoma 20 79 0 0 0.010504 0 0 ANKZF1 55139 broad.mit.edu 37 2 220099962 220099962 + Missense_Mutation SNP A A T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:220099962A>T ENST00000323348.5 + 10 1793 c.1619A>T c.(1618-1620)cAt>cTt p.H540L ANKZF1_ENST00000410034.3_Missense_Mutation_p.H540L|ANKZF1_ENST00000409849.1_Missense_Mutation_p.H330L NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 540 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTCTCCTGCATGCAGCAGCT 0.587000 28 60 0 0 0.006320 0 0 EVPL 2125 broad.mit.edu 37 17 74018542 74018542 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:74018542C>T ENST00000301607.3 - 5 811 c.558G>A c.(556-558)caG>caA p.Q186Q EVPL_ENST00000586740.1_Silent_p.Q186Q NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 186 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CGATCTCCTTCTGCAGGATGT 0.672000 3 44 0 0 0.004672 0 0 DNAH17 8632 broad.mit.edu 37 17 76455098 76455098 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:76455098G>A ENST00000389840.5 - 61 9928 c.9804C>T c.(9802-9804)atC>atT p.I3268I DNAH17_ENST00000585328.1_Silent_p.I3277I|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCTTGTTTTTGATCCGGGACA 0.582000 21 61 0 0 0.010504 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938309 116938309 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:116938309G>A ENST00000229554.5 + 1 660 c.523G>A c.(523-525)Gag>Aag p.E175K RSPH4A_ENST00000368580.4_Missense_Mutation_p.E175K|RSPH4A_ENST00000368581.4_Missense_Mutation_p.E175K NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 175 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TAAACAGAAAGAGCTGAGATT 0.512000 Kartagener syndrome 33 116 0 0 0.003755 0 0 BDP1 55814 broad.mit.edu 37 5 70786860 70786860 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:70786860G>A ENST00000358731.4 + 11 1805 c.1542G>A c.(1540-1542)aaG>aaA p.K514K BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 514 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AATGCAGTAAGGAGCAGATGC 0.383000 7 34 0 0 0.001984 0 0 PCNT 5116 broad.mit.edu 37 21 47773920 47773920 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:47773920G>A ENST00000359568.5 + 11 1806 c.1699G>A c.(1699-1701)Gaa>Aaa p.E567K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 567 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TGTGGGTTTAGAAGAGAAACC 0.498000 3 14 0 0 0.004672 0 0 NOTUM 147111 broad.mit.edu 37 17 79916266 79916266 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:79916266G>A ENST00000409678.3 - 5 920 c.537C>T c.(535-537)ttC>ttT p.F179F NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 179 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) AGTAGGGGATGAAGCTGCAAC 0.612000 11 44 0 0 0.001368 0 0 MDN1 23195 broad.mit.edu 37 6 90402813 90402813 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:90402813C>T ENST00000369393.3 - 63 10051 c.9936G>A c.(9934-9936)aaG>aaA p.K3312K MDN1_ENST00000428876.1_Silent_p.K3312K Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3312 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) AGGCCTGTTTCTTCAACAGGT 0.512000 14 35 0 0 0.004007 0 0 PDGFRL 5157 broad.mit.edu 37 8 17486079 17486079 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:17486079C>T ENST00000541323.1 + 5 1034 c.589C>T c.(589-591)Cgg>Tgg p.R197W PDGFRL_ENST00000398074.3_Missense_Mutation_p.R197W|PDGFRL_ENST00000251630.6_Missense_Mutation_p.R197W NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 197 extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) GGTTCCTTGTCGGGTGACCGT 0.532000 34 89 0 0 0.003755 0 0 XIRP1 165904 broad.mit.edu 37 3 39228635 39228635 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:39228635C>T ENST00000340369.3 - 2 2530 c.2302G>A c.(2302-2304)Gag>Aag p.E768K XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E768K NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 768 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GCTGCAGTCTCCTGGCTCTCT 0.642000 11 28 0 0 0.010729 0 0 HOXD8 3234 broad.mit.edu 37 2 176995585 176995585 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:176995585C>T ENST00000313173.4 + 1 1118 c.491C>T c.(490-492)tCg>tTg p.S164L HOXD8_ENST00000450510.2_Missense_Mutation_p.S164L|HOXD8_ENST00000429017.1_5'UTR|HOXD8_ENST00000548663.1_Missense_Mutation_p.S60L|HOXD8_ENST00000544999.1_Missense_Mutation_p.S164L|HOXD-AS2_ENST00000440016.2_RNA NM_001199746.1|NM_019558.3 NP_001186675.1|NP_062458.1 P13378 HXD8_HUMAN homeobox D8 164 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) GACTGTAAATCGTCCAGTGGT 0.488000 25 118 0 0 0.003330 0 0 KLK4 9622 broad.mit.edu 37 19 51410250 51410250 + Silent SNP A A C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:51410250A>C ENST00000324041.1 - 5 704 c.705T>G c.(703-705)ggT>ggG p.G235G KLK4_ENST00000431178.2_3'UTR NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 235 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) TGGTGTAGACACCTGGCACGC 0.552000 33 96 0 0 0.002836 0 0 GLI1 2735 broad.mit.edu 37 12 57857788 57857788 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57857788C>G ENST00000228682.2 + 3 198 c.107C>G c.(106-108)tCt>tGt p.S36C GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 36 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CTAGGACTGTCTGGCCCGCCC 0.552000 42 204 0 0 0.011902 0 0 SMTN 6525 broad.mit.edu 37 22 31484020 31484020 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:31484020G>A ENST00000333137.7 + 3 339 c.121G>A c.(121-123)Gag>Aag p.E41K SMTN_ENST00000358743.1_Missense_Mutation_p.E41K|SMTN_ENST00000347557.2_Missense_Mutation_p.E41K|SMTN_ENST00000475548.1_3'UTR NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 41 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle p.E41K(2)|p.E33K(1) breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GCAGCGGCAGGAGCTGGAGCG 0.652000 6 28 0 0 0.001984 0 0 TANGO6 79613 broad.mit.edu 37 16 68961608 68961608 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:68961608C>A ENST00000261778.1 + 13 2277 c.2265C>A c.(2263-2265)gcC>gcA p.A755A RP11-521L9.1_ENST00000562790.1_lincRNA NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) GAGCCTTTGCCACTGAGGCCG 0.502000 14 140 1.05317e-09 1.12263e-09 0.002450 1 0 VEPH1 79674 broad.mit.edu 37 3 157188282 157188282 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:157188282C>T ENST00000362010.2 - 3 482 c.175G>A c.(175-177)Gaa>Aaa p.E59K VEPH1_ENST00000543418.1_Missense_Mutation_p.E59K|VEPH1_ENST00000537559.1_Missense_Mutation_p.E59K|VEPH1_ENST00000392832.2_Missense_Mutation_p.E59K|VEPH1_ENST00000494677.1_Missense_Mutation_p.E59K|VEPH1_ENST00000468233.1_Missense_Mutation_p.E59K|VEPH1_ENST00000392833.2_Missense_Mutation_p.E59K NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 59 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) ATACAGATTTCAACTACTGCC 0.408000 30 121 0 0 0.003271 0 0 NPR1 4881 broad.mit.edu 37 1 153661438 153661438 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:153661438C>T ENST00000368680.3 + 16 2899 c.2427C>T c.(2425-2427)agC>agT p.S809S NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 809 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GGGAGAACAGCAGCAACATCC 0.637000 32 100 0 0 0.008361 0 0 INPP1 3628 broad.mit.edu 37 2 191235867 191235867 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:191235867C>G ENST00000392329.2 + 7 1639 c.939C>G c.(937-939)ttC>ttG p.F313L INPP1_ENST00000322522.4_Missense_Mutation_p.F313L|INPP1_ENST00000541441.1_Missense_Mutation_p.F313L NM_001128928.1 NP_001122400.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 313 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) ATACCACATTCAAATGGGACT 0.468000 15 55 0 0 0.006122 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122774 12122774 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:12122774G>A ENST00000379388.2 + 4 3078 c.2746G>A c.(2746-2748)Gga>Aga p.G916R NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 916 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding p.G916R(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TCTTGGTACTGGACAGTCCCT 0.517000 12 47 0 0 0.001368 0 0 WDR3 10885 broad.mit.edu 37 1 118483837 118483837 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:118483837C>G ENST00000349139.4 + 8 927 c.880C>G c.(880-882)Ctt>Gtt p.L294V WDR3_ENST00000369441.3_3'UTR NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 294 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) AGGCAGGATTCTTGCTTGCCA 0.413000 5 55 0 0 0.001984 0 0 ZIC5 85416 broad.mit.edu 37 13 100622424 100622424 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr13:100622424G>A ENST00000267294.4 - 1 1739 c.1506C>T c.(1504-1506)ttC>ttT p.F502F NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 502 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CGGAGCGCGCGAAGACCTTGC 0.662000 22 95 0 0 0.002780 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870254 151870254 + Nonstop_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:151870254G>C ENST00000329342.5 + 3 1169 c.944G>C c.(943-945)tGa>tCa p.*315S NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 0 protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GGGGAAGAGTGAGTCTGAGCA 0.577000 29 60 0 0 0.007291 0 0 ETS2 2114 broad.mit.edu 37 21 40194646 40194646 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:40194646G>A ENST00000360214.3 + 11 1703 c.1243G>A c.(1243-1245)Gag>Aag p.E415K ETS2_ENST00000360938.3_Missense_Mutation_p.E415K NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 415 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) GATGAACTACGAGAAGCTGAG 0.493000 60 44 0 0 0.003610 0 0 SCN1A 6323 broad.mit.edu 37 2 166900256 166900256 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:166900256C>A ENST00000423058.2 - 11 1983 c.1966G>T c.(1966-1968)Gga>Tga p.G656* AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.G656*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.G656*|SCN1A_ENST00000409050.1_Intron|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 656 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ACTGAAGGTCCACCAACCAAG 0.478000 6 75 8.12818e-05 8.39312e-05 0.001984 1 0 MAP4K1 11184 broad.mit.edu 37 19 39103253 39103253 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:39103253G>A ENST00000591517.1 - 9 691 c.663C>T c.(661-663)ctC>ctT p.L221L MAP4K1_ENST00000396857.2_Silent_p.L221L|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589130.1_Silent_p.L217L|MAP4K1_ENST00000586296.1_Silent_p.L221L|MAP4K1_ENST00000589002.1_5'UTR NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 221 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTGCCTACCTGAGAGGGTGCA 0.607000 13 23 0 0 0.001855 0 0 FCAR 2204 broad.mit.edu 37 19 55401037 55401037 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:55401037G>A ENST00000391723.3 + 4 562 c.562G>A c.(562-564)Gac>Aac p.D188N FCAR_ENST00000391724.3_Silent_p.T190T|FCAR_ENST00000391725.3_Silent_p.T202T|FCAR_ENST00000355524.3_Silent_p.T224T|FCAR_ENST00000353758.4_Silent_p.T115T|FCAR_ENST00000391726.3_Silent_p.T116T|FCAR_ENST00000359272.4_Silent_p.T212T|FCAR_ENST00000345937.4_Silent_p.T128T|FCAR_ENST00000482092.2_3'UTR NM_133274.2 NP_579808.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 0 Ig-like C2-type 2. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) AAGATTACACGACGCAGAACT 0.532000 102 303 0 0 0.003610 0 0 DENND4B 9909 broad.mit.edu 37 1 153911479 153911479 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:153911479G>C ENST00000361217.4 - 13 2280 c.1862C>G c.(1861-1863)tCt>tGt p.S621C NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 621 dDENN. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAGCAGCTGAGAGTAAAGTTT 0.537000 4 17 0 0 0.009096 0 0 RNF17 56163 broad.mit.edu 37 13 25348972 25348972 + Silent SNP A A C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr13:25348972A>C ENST00000255324.5 + 3 299 c.247A>C c.(247-249)Aga>Cga p.R83R RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.R83R|RNF17_ENST00000255325.5_Silent_p.R83R NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 83 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TGTAAATACTAGACAACGCTA 0.348000 16 27 0 0 0.004990 0 0 OPA3 80207 broad.mit.edu 37 19 46056955 46056955 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:46056955C>G ENST00000263275.4 - 2 411 c.357G>C c.(355-357)tgG>tgC p.W119C OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Missense_Mutation_p.W66C NM_025136.3 NP_079412.1 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 119 response to stimulus|visual perception mitochondrion cervix(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) GCAGCGCGTTCCAGGCAGCAC 0.716000 6 20 0 0 0.001984 0 0 NACA 4666 broad.mit.edu 37 12 57112997 57112997 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57112997C>A ENST00000454682.1 - 3 2598 c.2317G>T c.(2317-2319)Gag>Tag p.E773* NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CCAGAGTCCTCAGTTGGGCAC 0.493000 T BCL6 NHL 9 16 0.000442599 0.000455837 0.006214 1 0 PCDHB2 56133 broad.mit.edu 37 5 140475302 140475302 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:140475302G>C ENST00000194155.4 + 1 1076 c.928G>C c.(928-930)Gat>Cat p.D310H NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 310 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGAAACTGGATTTCGAATC 0.408000 16 49 0 0 0.004007 0 0 NACA 4666 broad.mit.edu 37 12 57110480 57110480 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57110480C>T ENST00000454682.1 - 3 5115 c.4834G>A c.(4834-4836)Gag>Aag p.E1612K NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GTAGGTGCCTCTTTGGGGGAA 0.607000 T BCL6 NHL 10 23 0 0 0.008291 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725254 106725254 + RNA SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:106725254G>T ENST00000390609.2 - 0 376 TTCATTTGCAGATACAGCGTG 0.522000 49 399 7.84493e-40 8.71414e-40 0.003610 1 0 IRF1 3659 broad.mit.edu 37 5 131825145 131825145 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:131825145C>T ENST00000245414.4 - 2 284 c.26G>A c.(25-27)aGa>aAa p.R9K IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Missense_Mutation_p.R9K NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 9 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) TAGCCAGGGTCTCATGCGCAT 0.493000 18 54 0 0 0.008871 0 0 SYT14 255928 broad.mit.edu 37 1 210334216 210334216 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:210334216G>A ENST00000537238.1 + 9 1774 c.1383G>A c.(1381-1383)gtG>gtA p.V461V SYT14_ENST00000367015.1_Silent_p.V461V|SYT14_ENST00000534859.1_Silent_p.V525V|SYT14_ENST00000367019.1_Silent_p.V518V|SYT14_ENST00000472886.1_Silent_p.V499V|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Silent_p.V563V|SYT14_ENST00000399639.2_3'UTR NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 499 C2 2. integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) TTTCTGATGTGACACTCATAC 0.418000 17 77 0 0 0.006122 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681481 44681481 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:44681481C>T ENST00000381176.4 - 4 558 c.426G>A c.(424-426)atG>atA p.M142I NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 142 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) GGTCCTGTTTCATCCATCGTC 0.652000 36 95 0 0 0.003271 0 0 UNC79 57578 broad.mit.edu 37 14 94041424 94041424 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:94041424C>G ENST00000553484.1 + 17 2245 c.2091C>G c.(2089-2091)atC>atG p.I697M UNC79_ENST00000393151.2_Missense_Mutation_p.I697M|UNC79_ENST00000256339.4_Missense_Mutation_p.I520M|UNC79_ENST00000555664.1_Missense_Mutation_p.I697M Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 697 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AGTTAGATATCATGGTTCCAC 0.328000 9 20 0 0 0.004482 0 0 EFHB 151651 broad.mit.edu 37 3 19924047 19924047 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:19924047C>G ENST00000295824.9 - 12 2484 c.2323G>C c.(2323-2325)Gaa>Caa p.E775Q EFHB_ENST00000344838.4_Missense_Mutation_p.E645Q NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 775 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 TATACCTCTTCTTTTGATCTG 0.299000 3 9 0 0 0.004672 0 0 HENMT1 113802 broad.mit.edu 37 1 109191450 109191450 + Nonsense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:109191450G>C ENST00000370032.5 - 8 1340 c.920C>G c.(919-921)tCa>tGa p.S307* HENMT1_ENST00000402983.1_Nonsense_Mutation_p.S307*|HENMT1_ENST00000370031.1_Nonsense_Mutation_p.S338* NM_144584.2 NP_653185.2 Q5T8I9 HENMT_HUMAN HEN1 methyltransferase homolog 1 (Arabidopsis) 307 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity p.G306_P310delGSKAP(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 AGGGGCCTTTGAGCCACCAAT 0.517000 9 56 0 0 0.006214 0 0 LTBR 4055 broad.mit.edu 37 12 6499994 6499994 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:6499994C>G ENST00000228918.4 + 10 1525 c.1199C>G c.(1198-1200)tCt>tGt p.S400C LTBR_ENST00000539925.1_Missense_Mutation_p.S381C|LTBR_ENST00000541102.1_Missense_Mutation_p.S257C NM_002342.1 NP_002333.1 P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) 400 apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 CCCGGGCTCTCTACACCCCAC 0.632000 56 123 0 0 0.003610 0 0 NRXN3 9369 broad.mit.edu 37 14 79432618 79432618 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:79432618G>A ENST00000554719.1 + 9 2018 c.1527G>A c.(1525-1527)ctG>ctA p.L509L NRXN3_ENST00000335750.5_Silent_p.L509L NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCAGCTACCTGAGCCTTGCCA 0.483000 17 81 0 0 0.007413 0 0 SMCO3 440087 broad.mit.edu 37 12 14959195 14959195 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:14959195G>A ENST00000316048.2 - 2 492 c.420C>T c.(418-420)gtC>gtT p.V140V C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron NM_001013698.2 NP_001013720.2 single-pass membrane protein with coiled-coil domains 3 TGCCAGTTGTGACATTTGAGC 0.438000 5 110 0 0 0.001168 0 0 KLRC3 3823 broad.mit.edu 37 12 10570960 10570960 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:10570960C>G ENST00000396439.2 - 4 513 c.469G>C c.(469-471)Gat>Cat p.D157H KLRC3_ENST00000381903.2_Missense_Mutation_p.D157H|KLRC3_ENST00000381904.2_Missense_Mutation_p.D157H|NKG2-E_ENST00000539033.1_Missense_Mutation_p.D157H NM_002261.2 NP_002252.2 killer cell lectin-like receptor subfamily C, member 3 large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 TCTTCATTATCTATACAAAGC 0.323000 29 84 0 0 0.002836 0 0 USP35 57558 broad.mit.edu 37 11 77920693 77920693 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:77920693C>G ENST00000529308.1 + 10 2053 c.1792C>G c.(1792-1794)Ctc>Gtc p.L598V USP35_ENST00000441408.2_Missense_Mutation_p.L184V|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.L166V|USP35_ENST00000526425.1_Missense_Mutation_p.L329V NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 598 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) GGACCTCTCTCTCGCCTTCCC 0.622000 10 132 0 0 0.006214 0 0 NUDT19 390916 broad.mit.edu 37 19 33183199 33183199 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:33183199G>A ENST00000397061.3 + 1 333 c.333G>A c.(331-333)aaG>aaA p.K111K NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 111 Nudix hydrolase. mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) ATGACCACAAGACCGACAACA 0.716000 13 27 0 0 0.003163 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41738568 41738568 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:41738568C>T ENST00000352645.4 + 12 1490 c.1233C>T c.(1231-1233)atC>atT p.I411I ZC3H7B_ENST00000351589.4_Silent_p.I411I NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 427 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCTTGCTCATCAAGAACCCCT 0.602000 4 47 0 0 0.009096 0 0 CAPG 822 broad.mit.edu 37 2 85628366 85628366 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:85628366C>T ENST00000263867.4 - 5 687 c.438G>A c.(436-438)aaG>aaA p.K146K CAPG_ENST00000409670.1_Silent_p.K146K|CAPG_ENST00000409724.1_Silent_p.K146K|CAPG_ENST00000409921.1_Silent_p.K146K|CAPG_ENST00000483659.1_5'UTR NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 146 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 CACGGATGTTCTTCTTCCCCT 0.592000 34 96 0 0 0.004878 0 0 MALAT1 378938 broad.mit.edu 37 11 65272344 65272344 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65272344G>A ENST00000534336.1 + 0 7112 NR_002819.2 GACCCAGTAAGAAAAAATAGC 0.418000 9 27 0 0 0.006214 0 0 MKNK1 8569 broad.mit.edu 37 1 47046281 47046281 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:47046281G>A ENST00000371946.4 - 4 318 c.155C>T c.(154-156)tCt>tTt p.S52F MKNK1_ENST00000428112.2_Missense_Mutation_p.S52F|MKNK1_ENST00000465783.1_Missense_Mutation_p.S52F|MKNK1_ENST00000545730.1_Missense_Mutation_p.S52F|MKNK1_ENST00000341183.5_Missense_Mutation_p.S52F|MKNK1_ENST00000371944.4_5'UTR|MKNK1_ENST00000371945.4_Missense_Mutation_p.S52F NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 52 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) AAGCAATTCAGAGGTCAGCTT 0.478000 22 41 0 0 0.003330 0 0 TAS1R3 83756 broad.mit.edu 37 1 1268701 1268701 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:1268701C>G ENST00000339381.5 + 5 1574 c.1542C>G c.(1540-1542)ttC>ttG p.F514L NM_152228.1 NP_689414.1 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 514 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) TCAAGGGGTTCCACTCCTGCT 0.711000 4 8 0 0 0.009096 0 0 RUNX1 861 broad.mit.edu 37 21 36171681 36171681 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:36171681G>A ENST00000344691.4 - 5 2380 c.803C>T c.(802-804)tCt>tTt p.S268F RUNX1_ENST00000399240.1_Missense_Mutation_p.S204F|RUNX1_ENST00000437180.1_Missense_Mutation_p.S295F|RUNX1_ENST00000325074.5_Missense_Mutation_p.S283F|RUNX1_ENST00000300305.3_Missense_Mutation_p.S295F NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 268 Pro/Ser/Thr-rich. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 TGGGTGCACAGAAGGAGAGGC 0.522000 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 7 79 0 0 0.001984 0 0 PRKAR2A 5576 broad.mit.edu 37 3 48789027 48789027 + Silent SNP G G A rs143784793 byFrequency TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:48789027G>A ENST00000265563.8 - 11 1455 c.1206C>T c.(1204-1206)ctC>ctT p.L402L PRKAR2A_ENST00000454963.1_Silent_p.L402L|PRKAR2A_ENST00000296446.8_Silent_p.L380L NM_004157.2 NP_004148.1 P13861 KAP2_HUMAN protein kinase, cAMP-dependent, regulatory, type II, alpha 402 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity SLC26A6/PRKAR2A(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) CCTACTGCCCGAGGTTGCCCA 0.522000 13 14 0 0 0.001368 0 0 PRSS3 5646 broad.mit.edu 37 9 33796723 33796723 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:33796723G>A ENST00000361005.5 + 2 294 c.294G>A c.(292-294)ctG>ctA p.L98L PRSS3_ENST00000342836.4_Silent_p.L55L|PRSS3_ENST00000379405.3_Silent_p.L41L|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Silent_p.L34L NM_007343.3 NP_031369.2 P35030 TRY3_HUMAN protease, serine, 3 98 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) AGGTGTCCCTGAATTCTGGCT 0.547000 7 178 0 0 0.006122 0 0 ANKZF1 55139 broad.mit.edu 37 2 220101166 220101166 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:220101166G>A ENST00000323348.5 + 14 2354 c.2180G>A c.(2179-2181)tGa>tAa p.*727* ANKZF1_ENST00000410034.3_Silent_p.*727*|ANKZF1_ENST00000409849.1_Silent_p.*517* NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 0 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCTCTTCCTGATCTCTTACA 0.557000 12 38 0 0 0.001855 0 0 CRTC3 64784 broad.mit.edu 37 15 91161162 91161162 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:91161162C>T ENST00000420329.2 + 8 808 c.661C>T c.(661-663)Ccg>Tcg p.P221S CRTC3_ENST00000268184.6_Missense_Mutation_p.P221S NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 221 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) GTTAAATGTTCCGAAGCCACT 0.438000 T MAML2 salivary gland mucoepidermoid 12 47 0 0 0.001368 0 0 RSPH10B 222967 broad.mit.edu 37 7 5967846 5967846 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:5967846C>T ENST00000405415.1 - 19 2799 c.2413G>A c.(2413-2415)Gat>Aat p.D805N RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000337579.3_Missense_Mutation_p.D805N|RSPH10B_ENST00000441023.2_Missense_Mutation_p.D805N|RSPH10B_ENST00000404406.1_Missense_Mutation_p.D805N|RSPH10B_ENST00000535104.1_5'UTR B2RC85 R10B2_HUMAN radial spoke head 10 homolog B (Chlamydomonas) 805 breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4) 11 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974) AGTTCGTCATCTTCCATCTTC 0.522000 46 253 0 0 0.003610 0 0 CABP1 9478 broad.mit.edu 37 12 121093905 121093905 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:121093905G>C ENST00000453000.1 + 1 804 c.292G>C c.(292-294)Gag>Cag p.E98Q CABP1_ENST00000288616.3_Missense_Mutation_p.E19Q|CABP1_ENST00000316803.3_Intron|CABP1_ENST00000351200.2_Intron Q9NZU7 CABP1_HUMAN calcium binding protein 1 0 Pro-rich. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GATGTGCCAGGAGGAACAGAC 0.652000 9 35 0 0 0.004482 0 0 WDR35 57539 broad.mit.edu 37 2 20130165 20130165 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:20130165A>G ENST00000345530.3 - 26 3261 c.3146T>C c.(3145-3147)cTg>cCg p.L1049P WDR35_ENST00000281405.4_Missense_Mutation_p.L1038P|WDR35_ENST00000416055.2_Missense_Mutation_p.L522P NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 1049 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTGTCTTCAGTGCAGTGTC 0.438000 18 174 0 0 0.010818 0 0 MALAT1 378938 broad.mit.edu 37 11 65272459 65272459 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65272459G>A ENST00000534336.1 + 0 7227 NR_002819.2 GCTTCCAGTTGAATTCACCAG 0.343000 8 18 0 0 0.003080 0 0 RHBDF1 64285 broad.mit.edu 37 16 111984 111984 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:111984G>A ENST00000262316.6 - 8 1162 c.1020C>T c.(1018-1020)ctC>ctT p.L340L RHBDF1_ENST00000454039.2_Silent_p.L340L NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 340 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) CCTCCTGTCGGAGCCGCACCT 0.741000 7 10 0 0 0.003080 0 0 SARDH 1757 broad.mit.edu 37 9 136596561 136596561 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:136596561C>G ENST00000371872.4 - 4 813 c.556G>C c.(556-558)Gag>Cag p.E186Q SARDH_ENST00000422262.2_Missense_Mutation_p.E18Q|SARDH_ENST00000371867.1_Missense_Mutation_p.E97Q|SARDH_ENST00000298628.5_Missense_Mutation_p.E186Q|SARDH_ENST00000439388.1_Missense_Mutation_p.E186Q NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 186 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GTCTTGGTCTCTGCCGGGCTC 0.627000 7 71 0 0 0.001984 0 0 DNA2 1763 broad.mit.edu 37 10 70231756 70231756 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr10:70231756G>A ENST00000399180.2 - 1 123 c.124C>T c.(124-126)Cat>Tat p.H42Y DNA2_ENST00000399179.2_5'UTR P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 0 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 TGTCCCAAATGACCTGCGCCA 0.657000 17 20 0 0 0.004990 0 0 TMEM44 93109 broad.mit.edu 37 3 194309351 194309351 + Nonstop_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:194309351C>G ENST00000381975.3 - 10 1255 c.1190G>C c.(1189-1191)tGa>tCa p.*397S TMEM44-AS1_ENST00000453671.1_RNA|TMEM44_ENST00000473092.1_Silent_p.V408V|TMEM44-AS1_ENST00000419571.1_RNA|TMEM44_ENST00000476750.1_5'UTR|TMEM44_ENST00000273580.7_Silent_p.V409V|TMEM44_ENST00000347147.4_Silent_p.V398V|TMEM44_ENST00000392432.2_Silent_p.V445V|TMEM44-AS1_ENST00000447982.1_RNA Q2T9K0 TMM44_HUMAN transmembrane protein 44 0 integral to membrane breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1) 8 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) CTTCGAGGTTCACATCTTCAG 0.498000 10 235 0 0 0.008291 0 0 ABAT 18 broad.mit.edu 37 16 8875251 8875251 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:8875251C>A ENST00000569156.1 + 16 1783 c.1526C>A c.(1525-1527)tCa>tAa p.S509* ABAT_ENST00000396600.2_Silent_p.L489L|ABAT_ENST00000425191.2_Silent_p.L489L|ABAT_ENST00000268251.8_Silent_p.L489L|ABAT_ENST00000567812.1_Silent_p.L504L|TMEM186_ENST00000564869.1_5'UTR P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 0 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) ACCTGTTCCTCAATATTTTCA 0.478000 20 53 5.03518e-11 5.40361e-11 0.007413 1 0 RALGDS 5900 broad.mit.edu 37 9 135985044 135985044 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:135985044C>T ENST00000393160.3 - 4 741 c.388G>A c.(388-390)Gag>Aag p.E130K RALGDS_ENST00000542690.1_Missense_Mutation_p.E256K|RALGDS_ENST00000372047.3_Missense_Mutation_p.E173K|RALGDS_ENST00000372050.3_Missense_Mutation_p.E185K|RALGDS_ENST00000393157.3_Missense_Mutation_p.E184K|RALGDS_ENST00000372062.3_Missense_Mutation_p.E156K NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 185 N-terminal Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CCACCATCCTCGTCGGAATAG 0.557000 T CIITA """PMBL, Hodgkin Lymphona, """ 18 61 0 0 0.008871 0 0 SLC16A14 151473 broad.mit.edu 37 2 230902183 230902183 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:230902183C>G ENST00000295190.4 - 5 1904 c.1446G>C c.(1444-1446)atG>atC p.M482I NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 482 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) GTATTCCTATCATGTAAAGCA 0.328000 6 31 0 0 0.001984 0 0 CRELD1 78987 broad.mit.edu 37 3 9979762 9979762 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:9979762C>T ENST00000383811.3 + 4 1031 c.432C>T c.(430-432)ccC>ccT p.P144P CRELD1_ENST00000397170.3_Silent_p.P144P|CRELD1_ENST00000326434.5_Silent_p.P144P|CRELD1_ENST00000452070.1_Silent_p.P144P NM_015513.4 NP_056328.2 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 144 cardiac septum development|endocardial cushion development integral to membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1) 14 TCTGCTGCCCCGCAGGCACCT 0.652000 5 20 0 0 0.000602 0 0 TRIP11 9321 broad.mit.edu 37 14 92470587 92470587 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92470587C>G ENST00000267622.4 - 11 4106 c.3733G>C c.(3733-3735)Gag>Cag p.E1245Q NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1245 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TGGTGAAGCTCTTCCTGAAGC 0.408000 T PDGFRB AML 8 39 0 0 0.003080 0 0 LRRC66 339977 broad.mit.edu 37 4 52861814 52861814 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:52861814G>C ENST00000343457.3 - 4 1380 c.1374C>G c.(1372-1374)ttC>ttG p.F458L NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 458 integral to membrane p.F458L(2) central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GTGTCACCCAGAAAGGGGTCT 0.562000 26 72 0 0 0.003330 0 0 RSRC1 51319 broad.mit.edu 37 3 157920866 157920866 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:157920866G>A ENST00000295930.3 + 4 488 c.326G>A c.(325-327)aGg>aAg p.R109K RSRC1_ENST00000480820.1_Missense_Mutation_p.R109K|RSRC1_ENST00000475278.2_Missense_Mutation_p.R109K|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron NM_001271838.1|NM_016625.2 NP_001258767.1|NP_057709.2 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 109 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) TGTAGGTCCAGGTCAAGACCT 0.393000 4 45 0 0 0.009096 0 0 BICD2 23299 broad.mit.edu 37 9 95481630 95481630 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:95481630C>G ENST00000356884.6 - 5 1364 c.1297G>C c.(1297-1299)Gag>Cag p.E433Q BICD2_ENST00000375512.3_Missense_Mutation_p.E433Q NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 433 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 GCCAAGATCTCAGGCCCGTTG 0.637000 6 56 0 0 0.001984 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450679 85450679 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:85450679C>G ENST00000393217.2 + 8 2169 c.2108C>G c.(2107-2109)tCt>tGt p.S703C NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 703 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GAAGTCAACTCTCTTAAATCT 0.373000 46 119 0 0 0.009718 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644684 20644684 + RNA SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:20644684G>C ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ACAGGGAAGGGAGACGGCCAC 0.632000 2 5 0 0 0.004672 0 0 NKTR 4820 broad.mit.edu 37 3 42680839 42680839 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:42680839G>C ENST00000232978.8 + 13 3831 c.3643G>C c.(3643-3645)Gag>Cag p.E1215Q RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1215 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) GGAGGTGGCTGAGAAGAGCCA 0.527000 21 43 0 0 0.012319 0 0 CECR2 27443 broad.mit.edu 37 22 17956654 17956654 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:17956654G>C ENST00000262608.8 + 1 28 c.28G>C c.(28-30)Gat>Cat p.D10H CECR2_ENST00000342247.5_Missense_Mutation_p.D9H|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000400573.4_Missense_Mutation_p.D29H|CECR2_ENST00000497534.1_3'UTR NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 51 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) TCTTCACAGAGATGACGTGGA 0.463000 22 57 0 0 0.003330 0 0 FLG 2312 broad.mit.edu 37 1 152283989 152283989 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:152283989C>T ENST00000368799.1 - 3 3408 c.3373G>A c.(3373-3375)Gaa>Aaa p.E1125K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1125 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCAGACTGTTCATGAGTGCTC 0.607000 Ichthyosis 124 299 0 0 0.003610 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27834486 27834486 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:27834486G>C ENST00000318304.8 + 21 2204 c.1921G>C c.(1921-1923)Gat>Cat p.D641H PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D610H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D635H|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D488H NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 641 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) TAGTGACTTGGATATGCCATT 0.418000 11 103 0 0 0.001368 0 0 FSCN3 29999 broad.mit.edu 37 7 127236417 127236417 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:127236417C>T ENST00000265825.5 + 3 1096 c.877C>T c.(877-879)Cga>Tga p.R293* FSCN3_ENST00000420086.2_Nonsense_Mutation_p.R159* NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 293 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 GCGCTTAAACCGAATGTCCTT 0.537000 44 86 0 0 0.003610 0 0 HMGB2 3148 broad.mit.edu 37 4 174254786 174254786 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:174254786G>A ENST00000296503.5 - 2 888 c.15C>T c.(13-15)gaC>gaT p.D5D HMGB2_ENST00000438704.2_Silent_p.D5D|HMGB2_ENST00000446922.2_Silent_p.D5D P26583 HMGB2_HUMAN high mobility group box 2 5 base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) GCTTGTTGGGGTCTCCTTTAC 0.642000 4 64 0 0 0.009096 0 0 DIS3L2 129563 broad.mit.edu 37 2 233001212 233001212 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:233001212C>G ENST00000325385.7 + 8 1009 c.733C>G c.(733-735)Cga>Gga p.R245G DIS3L2_ENST00000409307.1_Missense_Mutation_p.R245G|DIS3L2_ENST00000360410.4_Silent_p.L264L|DIS3L2_ENST00000273009.6_Missense_Mutation_p.R245G NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 245 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) AAAACATTCTCGAGCAGCAAC 0.433000 21 85 0 0 0.002780 0 0 PDE3A 5139 broad.mit.edu 37 12 20799804 20799804 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:20799804C>A ENST00000359062.3 + 12 2525 c.2485C>A c.(2485-2487)Ctg>Atg p.L829M PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 829 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GTTGATGGCGCTGTATGTGGC 0.428000 33 126 1.62565e-12 1.7589e-12 0.012213 1 0 TRIM39 56658 broad.mit.edu 37 6 30297129 30297129 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:30297129C>T ENST00000376659.5 + 3 633 c.35C>T c.(34-36)tCt>tTt p.S12F TRIM39_ENST00000396547.1_Missense_Mutation_p.S12F|TRIM39_ENST00000376656.4_Missense_Mutation_p.S12F|TRIM39_ENST00000540416.1_Missense_Mutation_p.S12F|TRIM39_ENST00000396551.3_Missense_Mutation_p.S12F|TRIM39_ENST00000396548.1_Missense_Mutation_p.S12F NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 GCTGGGGCCTCTGCAGCCTCT 0.473000 50 149 0 0 0.003610 0 0 CCDC180 100499483 broad.mit.edu 37 9 100056386 100056386 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:100056386G>A ENST00000357054.1 + 13 1179 c.244G>A c.(244-246)Gac>Aac p.D82N RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000411667.2_5'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375205.2_Missense_Mutation_p.D122N|CCDC180_ENST00000395220.1_Missense_Mutation_p.D82N coiled-coil domain containing 180 TGAGGGAGCAGACATGGGTAA 0.607000 21 50 0 0 0.008871 0 0 TRIP11 9321 broad.mit.edu 37 14 92470328 92470328 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92470328C>G ENST00000267622.4 - 11 4365 c.3992G>C c.(3991-3993)aGa>aCa p.R1331T NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1331 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CTTACTTGCTCTAAGACACTC 0.383000 T PDGFRB AML 9 57 0 0 0.006214 0 0 BEST3 144453 broad.mit.edu 37 12 70049452 70049452 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:70049452C>G ENST00000330891.5 - 10 1468 c.1242G>C c.(1240-1242)agG>agC p.R414S BEST3_ENST00000488961.1_Missense_Mutation_p.R201S|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R308S NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 414 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TTGTCTGCCTCCTGTAGCTTC 0.562000 25 114 0 0 0.004656 0 0 NPTX2 4885 broad.mit.edu 37 7 98256620 98256620 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:98256620C>G ENST00000265634.3 + 4 1197 c.1032C>G c.(1030-1032)atC>atG p.I344M NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 344 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GGCACCCCATCAAGCCCGGGG 0.662000 16 40 0 0 0.007413 0 0 AKAP4 8852 broad.mit.edu 37 X 49958507 49958507 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:49958507A>G ENST00000376056.2 - 5 980 c.830T>C c.(829-831)aTg>aCg p.M277T AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.M277T|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.M286T Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 286 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) AGTGCCACGCATTTCTGCAGC 0.498000 15 21 0 0 0.003163 0 0 NPLOC4 55666 broad.mit.edu 37 17 79563226 79563226 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:79563226C>G ENST00000374747.5 - 11 1165 c.1036G>C c.(1036-1038)Gac>Cac p.D346H NPLOC4_ENST00000331134.6_Missense_Mutation_p.D346H|NPLOC4_ENST00000539314.1_Missense_Mutation_p.D185H Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 346 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TTCTGGAAGTCTCCTGCAGTG 0.443000 24 59 0 0 0.003330 0 0 CACNA1G 8913 broad.mit.edu 37 17 48683370 48683370 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:48683370G>C ENST00000352832.5 + 22 4711 c.4339G>C c.(4339-4341)Gac>Cac p.D1447H CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1447H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1447H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D1470H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1447H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1447H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1470H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1447H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.D1470H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1470H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1470H NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1470 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GTACAACTTTGACAACCTTGG 0.587000 21 61 0 0 0.002299 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169684718 169684718 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:169684718C>T ENST00000444448.2 + 6 724 c.248C>T c.(247-249)gCg>gTg p.A83V NOSTRIN_ENST00000421711.2_Missense_Mutation_p.A55V|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.A5V|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.A83V|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.A5V|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.A83V|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.A55V Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficking 83 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 AAATCCACAGCGGACCTGCAT 0.463000 14 48 0 0 0.003163 0 0 NKTR 4820 broad.mit.edu 37 3 42680982 42680982 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:42680982G>C ENST00000232978.8 + 13 3974 c.3786G>C c.(3784-3786)ttG>ttC p.L1262F RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1262 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) CACAAGGCTTGAGAATAGAAA 0.453000 27 42 0 0 0.004656 0 0 CACNG4 27092 broad.mit.edu 37 17 65026887 65026887 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:65026887G>A ENST00000262138.3 + 4 753 c.751G>A c.(751-753)Gag>Aag p.E251K NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 251 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) AAGGTCCACCGAGGCCTCGCC 0.632000 24 58 0 0 0.003330 0 0 ZNF572 137209 broad.mit.edu 37 8 125989717 125989717 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:125989717C>T ENST00000319286.5 + 3 1361 c.1207C>T c.(1207-1209)Cag>Tag p.Q403* NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 403 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CATTAGACATCAGAGAACACA 0.423000 HNSCC(60;0.17) 10 56 0 0 0.006214 0 0 SVEP1 79987 broad.mit.edu 37 9 113169862 113169862 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:113169862G>A ENST00000401783.2 - 38 8354 c.8018C>T c.(8017-8019)tCa>tTa p.S2673L SVEP1_ENST00000374469.1_Missense_Mutation_p.S2650L|SVEP1_ENST00000297826.5_Missense_Mutation_p.S599L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2673 Sushi 21. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CAGAAAGTTTGATGAATGTGT 0.443000 55 167 0 0 0.003610 0 0 ALKBH3 221120 broad.mit.edu 37 11 43911373 43911373 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:43911373G>C ENST00000302708.4 + 6 776 c.365G>C c.(364-366)aGa>aCa p.R122T ALKBH3_ENST00000378840.4_Missense_Mutation_p.R121T|ALKBH3_ENST00000532410.1_3'UTR NM_139178.3 NP_631917.1 Q96Q83 ALKB3_HUMAN alkB, alkylation repair homolog 3 (E. coli) 122 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation mitochondrion|nucleoplasm damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|kidney(1)|lung(4)|prostate(1) 8 Vitamin C(DB00126) ACTGGCATCAGAGAGGGTAAG 0.478000 Direct reversal of damage 11 31 0 0 0.010729 0 0 OR10G4 390264 broad.mit.edu 37 11 123886938 123886938 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:123886938C>A ENST00000320891.4 + 1 657 c.657C>A c.(655-657)tcC>tcA p.S219S NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CCTATGTGTCCATCGTCTGTT 0.542000 36 60 5.8336e-16 6.36393e-16 0.003271 1 0 LIMK1 3984 broad.mit.edu 37 7 73521420 73521420 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:73521420C>G ENST00000418310.1 + 8 1154 c.1052C>G c.(1051-1053)tCt>tGt p.S351C LIMK1_ENST00000336180.2_Missense_Mutation_p.S321C|LIMK1_ENST00000538333.3_Missense_Mutation_p.S287C P53667 LIMK1_HUMAN LIM domain kinase 1 321 Protein kinase. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) CTGGGTCGCTCTGAGTCCCTC 0.697000 3 18 0 0 0.004672 0 0 MCL1 4170 broad.mit.edu 37 1 150551469 150551469 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:150551469C>T ENST00000369026.2 - 1 597 c.538G>A c.(538-540)Gag>Aag p.E180K MCL1_ENST00000307940.3_Missense_Mutation_p.E180K NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 180 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GAGATAATCTCCAGCGACTGC 0.627000 25 59 0 0 0.003954 0 0 ADD2 119 broad.mit.edu 37 2 70900406 70900406 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:70900406G>A ENST00000355733.3 - 15 2238 c.1794C>T c.(1792-1794)ttC>ttT p.F598F ADD2_ENST00000407644.2_Intron|ADD2_ENST00000264436.3_Intron NM_017488.3 NP_059522.1 P35612 ADDB_HUMAN adducin 2 (beta) 0 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 GGGCAACGCTGAAGAACTCGC 0.542000 12 43 0 0 0.001368 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627818 43627818 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:43627818G>A ENST00000332857.6 - 4 897 c.869C>T c.(868-870)tCg>tTg p.S290L SPATA31A6_ENST00000496386.1_5'UTR NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 AAAGGCGCACGAGGTTCTGGC 0.552000 83 82 0 0 0.003610 0 0 TMEM45B 120224 broad.mit.edu 37 11 129724648 129724648 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:129724648C>G ENST00000281441.3 + 3 410 c.322C>G c.(322-324)Ctg>Gtg p.L108V TMEM45B_ENST00000524567.1_Missense_Mutation_p.L108V NM_138788.3 NP_620143.1 Q96B21 TM45B_HUMAN transmembrane protein 45B 108 integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) GCTCACCTATCTGGTCAGCCA 0.483000 29 40 0 0 0.009535 0 0 NCOR1P1 149934 broad.mit.edu 37 20 26084205 26084205 + RNA SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:26084205C>G ENST00000478176.1 - 0 252 NR_003678.1 TCTATTAACTCTTCCTTTGAA 0.393000 12 23 0 0 0.010729 0 0 MALAT1 378938 broad.mit.edu 37 11 65273081 65273081 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65273081G>A ENST00000534336.1 + 0 7849 NR_002819.2 CCCTCACCTCGATGCAGCCAG 0.507000 23 87 0 0 0.012319 0 0 IL10RA 3587 broad.mit.edu 37 11 117860224 117860224 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:117860224G>A ENST00000227752.3 + 3 376 c.256G>A c.(256-258)Gtg>Atg p.V86M IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000541785.1_Missense_Mutation_p.V66M|IL10RA_ENST00000533700.1_3'UTR NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 86 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) CCTTACCGCAGTGACCTTGGA 0.577000 28 37 0 0 0.006320 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101572517 101572517 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:101572517G>A ENST00000326172.5 + 5 1262 c.1147G>A c.(1147-1149)Gag>Aag p.E383K NFKBIZ_ENST00000394054.2_Missense_Mutation_p.E283K|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.E261K NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 383 Required for transcriptional activity (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 CAGCGCCTGTGAGGCCATGGT 0.493000 21 124 0 0 0.002780 0 0 RRP1B 23076 broad.mit.edu 37 21 45104516 45104516 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:45104516C>G ENST00000340648.4 + 10 1091 c.974C>G c.(973-975)tCc>tGc p.S325C NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 325 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) AAGCGCCTCTCCAAACTCATC 0.488000 4 44 0 0 0.009096 0 0 S100A16 140576 broad.mit.edu 37 1 153580541 153580541 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:153580541G>C ENST00000368704.1 - 2 272 c.87C>G c.(85-87)gtC>gtG p.V29V S100A16_ENST00000368705.2_Silent_p.V29V|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368706.4_Silent_p.V29V|S100A16_ENST00000368703.2_Silent_p.V29V Q96FQ6 S10AG_HUMAN S100 calcium binding protein A16 29 EF-hand 1. cytosol|nucleolus calcium ion binding|protein homodimerization activity breast(1)|large_intestine(1)|prostate(1) 3 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TCTTGTTCTTGACCAGGCTGT 0.532000 13 46 0 0 0.003163 0 0 KIAA1407 57577 broad.mit.edu 37 3 113753906 113753906 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:113753906C>G ENST00000295878.3 - 6 830 c.684G>C c.(682-684)caG>caC p.Q228H KIAA1407_ENST00000545063.1_Missense_Mutation_p.Q59H NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 228 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GCACCAGACACTGAGCCTCCA 0.448000 21 120 0 0 0.010504 0 0 NACA 4666 broad.mit.edu 37 12 57110522 57110522 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57110522C>G ENST00000454682.1 - 3 5073 c.4792G>C c.(4792-4794)Gag>Cag p.E1598Q NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 ATGAGGAGCTCTTTGGGGGAT 0.597000 T BCL6 NHL 5 27 0 0 0.001168 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33566371 33566371 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:33566371G>A ENST00000321505.4 + 2 2121 c.1941G>A c.(1939-1941)ctG>ctA p.L647L KIAA1549L_ENST00000265654.5_Silent_p.L653L|KIAA1549L_ENST00000389726.3_Silent_p.L653L KIAA1549-like CATTGTTTCTGAGGAAATCAA 0.512000 8 17 0 0 0.003080 0 0 MALAT1 378938 broad.mit.edu 37 11 65272679 65272679 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65272679G>A ENST00000534336.1 + 0 7447 NR_002819.2 TAAAGGCACCGAAGGCTTAAA 0.502000 14 40 0 0 0.001855 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65152104 65152104 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:65152104C>G ENST00000323544.4 + 4 419 c.291C>G c.(289-291)atC>atG p.I97M AC069368.3_ENST00000437723.1_Missense_Mutation_p.I97M NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 97 PH. NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 TCAGCGACATCAAATTCCAGG 0.488000 37 157 0 0 0.008740 0 0 UNC119 9094 broad.mit.edu 37 17 26879514 26879514 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:26879514G>A ENST00000301032.4 - 1 135 c.62C>T c.(61-63)tCg>tTg p.S21L UNC119_ENST00000335765.4_Missense_Mutation_p.S21L NM_054035.2 NP_473376.1 Q13432 U119A_HUMAN unc-119 homolog (C. elegans) 21 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 7 Lung NSC(42;0.00431) GCTCTGGCCCGAGGGCCCCGG 0.761000 3 9 0 0 0.004672 0 0 ZNF70 7621 broad.mit.edu 37 22 24086061 24086061 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:24086061G>A ENST00000341976.3 - 2 1727 c.1267C>T c.(1267-1269)Ctg>Ttg p.L423L NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 423 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 TTGCCGCACAGATTGCACACG 0.547000 59 119 0 0 0.003610 0 0 SMG9 56006 broad.mit.edu 37 19 44251656 44251656 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:44251656G>T ENST00000601170.1 - 5 840 c.526C>A c.(526-528)Cgc>Agc p.R176S SMG9_ENST00000270066.6_Missense_Mutation_p.R176S Q9H0W8 SMG9_HUMAN SMG9 nonsense mediated mRNA decay factor 176 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay intracellular protein binding kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2) 19 TGCTTCATGCGCTCTGGGGGC 0.572000 4 60 0.00909568 0.00928322 0.009096 1 0 CFP 5199 broad.mit.edu 37 X 47485839 47485839 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:47485839G>A ENST00000247153.3 - 8 1261 c.1020C>T c.(1018-1020)atC>atT p.I340I CFP_ENST00000377005.2_Silent_p.I340I|CFP_ENST00000396992.3_Silent_p.I340I NM_002621.2 NP_002612.1 P27918 PROP_HUMAN complement factor properdin 340 TSP type-1 5. complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 GCTGGCCCGGGATTTCTTGAC 0.617000 15 10 0 0 0.004007 0 0 BTBD1 53339 broad.mit.edu 37 15 83687528 83687528 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:83687528G>A ENST00000379403.2 - 6 1132 c.1133C>T c.(1132-1134)tCa>tTa p.S378L RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000261721.4_Silent_p.F407F|RP11-382A20.7_ENST00000570202.1_RNA Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 0 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) ACATGACCCTGAATGTGTTAG 0.418000 13 48 0 0 0.002450 0 0 TTL 150465 broad.mit.edu 37 2 113258824 113258824 + Missense_Mutation SNP G G C rs2943625 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:113258824G>C ENST00000233336.5 + 4 702 c.511G>C c.(511-513)Gat>Cat p.D171H NM_153712.4 NP_714923.1 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 171 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity breast(1)|large_intestine(2)|ovary(1) 4 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) AGAGCTTCTCGATTTCATAGA 0.458000 T ETV6 ALL 9 50 0 0 0.010729 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22850972 22850972 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:22850972C>T ENST00000283645.4 + 11 1364 c.1234C>T c.(1234-1236)Ctg>Ttg p.L412L TUBGCP5_ENST00000453949.2_Silent_p.L412L|TUBGCP5_ENST00000559846.1_3'UTR NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 412 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GCTCAAGGTTCTGCACAAAGT 0.448000 21 43 0 0 0.002299 0 0 LIN54 132660 broad.mit.edu 37 4 83858440 83858440 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:83858440G>A ENST00000340417.3 - 9 1921 c.1544C>T c.(1543-1545)tCa>tTa p.S515L LIN54_ENST00000510557.1_Missense_Mutation_p.S294L|LIN54_ENST00000506560.1_Missense_Mutation_p.S426L|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.S426L|LIN54_ENST00000446851.2_Missense_Mutation_p.S294L|LIN54_ENST00000442461.2_Missense_Mutation_p.S294L|LIN54_ENST00000505397.1_Missense_Mutation_p.S515L NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 515 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) GGCCGACTCTGATGGGATTAT 0.289000 13 54 0 0 0.001368 0 0 RFPL2 10739 broad.mit.edu 37 22 32587230 32587230 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:32587230C>T ENST00000400236.3 - 5 1601 c.396G>A c.(394-396)gaG>gaA p.E132E RFPL2_ENST00000248983.4_Silent_p.E132E|RFPL2_ENST00000248980.4_Silent_p.E161E|RFPL2_ENST00000400237.1_Silent_p.E222E|RFPL2_ENST00000489846.1_5'UTR NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 222 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 CGTCAAATCTCTCGGCAAGGT 0.582000 8 95 0 0 0.003080 0 0 SPAG4 6676 broad.mit.edu 37 20 34206846 34206846 + Splice_Site SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:34206846G>C ENST00000374273.3 + 8 831 c.717_splice c.e8-1 p.R240_splice NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 240 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) TCCTTGCAGAGAGTGGCCAAG 0.592000 14 57 0 0 0.002450 0 0 SSPN 8082 broad.mit.edu 37 12 26377309 26377309 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:26377309G>C ENST00000242729.2 + 2 540 c.363G>C c.(361-363)atG>atC p.M121I SSPN_ENST00000422622.2_Missense_Mutation_p.M18I|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000535504.1_Missense_Mutation_p.M121I|SSPN_ENST00000540266.1_Missense_Mutation_p.M18I NM_005086.4 NP_005077.2 Q14714 SSPN_HUMAN sarcospan 121 cell adhesion|muscle contraction cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 Colorectal(261;0.0847) AATTTTCTATGAAAGTAAGTT 0.373000 45 152 0 0 0.010771 0 0 YTHDC2 64848 broad.mit.edu 37 5 112851047 112851047 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:112851047C>T ENST00000161863.4 + 2 479 c.266C>T c.(265-267)tCt>tTt p.S89F YTHDC2_ENST00000515883.1_Missense_Mutation_p.S89F NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 89 R3H. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GGTTTGGTCTCTAAAAGTAAA 0.333000 15 63 0 0 0.003163 0 0 HGSNAT 138050 broad.mit.edu 37 8 43048965 43048965 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:43048965G>A ENST00000458501.2 + 14 1527 c.1527G>A c.(1525-1527)gtG>gtA p.V509V HGSNAT_ENST00000379644.4_Silent_p.V481V|HGSNAT_ENST00000521576.1_Silent_p.V198V|HGSNAT_ENST00000297798.7_Silent_p.V213V Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 509 V -> L (does not have any clinical significance; no loss of enzymatic activity). lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) ACTCCATCGTGATGGCCTTTT 0.403000 24 62 0 0 0.003330 0 0 DDI2 84301 broad.mit.edu 37 1 15983119 15983119 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:15983119G>A ENST00000480945.1 + 9 1362 c.1191G>A c.(1189-1191)caG>caA p.Q397Q NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA-damage inducible 1 homolog 2 (S. cerevisiae) 397 proteolysis aspartic-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1) 17 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CAGAGCGTCAGAAGCCATGAT 0.458000 39 93 0 0 0.007835 0 0 PIWIL2 55124 broad.mit.edu 37 8 22210625 22210625 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:22210625C>T ENST00000356766.6 + 21 2705 c.2557C>T c.(2557-2559)Cag>Tag p.Q853* PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.Q853*|PIWIL2_ENST00000454009.2_Nonsense_Mutation_p.Q853* NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 853 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) GTTTGTAGTTCAGAAGAAAAT 0.413000 33 68 0 0 0.002836 0 0 FRAS1 80144 broad.mit.edu 37 4 79455676 79455676 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:79455676C>T ENST00000264895.6 + 71 11439 c.10999C>T c.(10999-11001)Cag>Tag p.Q3667* NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3662 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CACTGAATTTCAGCTCTGCAA 0.418000 28 120 0 0 0.009535 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12918895 12918895 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:12918895G>C ENST00000240189.2 + 2 118 c.31G>C c.(31-33)Gag>Cag p.E11Q NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 11 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGACTACTGGAGCTGGCGGG 0.557000 35 148 0 0 0.004289 0 0 NRROS 375387 broad.mit.edu 37 3 196386869 196386869 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:196386869G>A ENST00000328557.4 + 3 558 c.355G>A c.(355-357)Gag>Aag p.E119K NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species CTGCCTCTCAGAGAACTACGA 0.672000 7 51 0 0 0.001984 0 0 STK11 6794 broad.mit.edu 37 19 1221279 1221279 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:1221279G>A ENST00000326873.7 + 6 1975 c.802G>A c.(802-804)Ggg>Agg p.G268R NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 268 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.Y246fs*3(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TGAGAACATCGGGAAGGGGAG 0.607000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 5 8 0 0 0.000602 0 0 TMEM147 10430 broad.mit.edu 37 19 36037925 36037925 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:36037925C>T ENST00000392204.2 + 4 604 c.276C>T c.(274-276)atC>atT p.I92I TMEM147_ENST00000392205.1_Silent_p.I141I|TMEM147_ENST00000222284.5_Silent_p.I141I NM_001242597.1 NP_001229526.1 Q9BVK8 TM147_HUMAN transmembrane protein 147 141 endoplasmic reticulum membrane|integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) ACTCCAACATCAGTCTGGTAG 0.567000 19 93 0 0 0.007413 0 0 MPL 4352 broad.mit.edu 37 1 43812513 43812513 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:43812513C>G ENST00000372470.3 + 8 1258 c.1216C>G c.(1216-1218)Ctg>Gtg p.L406V MPL_ENST00000413998.2_Missense_Mutation_p.L406V NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 406 Fibronectin type-III 2. cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity p.L406V(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CAGTGGGCATCTGGAATTGGA 0.567000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 17 80 0 0 0.004007 0 0 OR2C3 81472 broad.mit.edu 37 1 247694956 247694956 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:247694956C>G ENST00000366487.3 - 2 1219 c.858G>C c.(856-858)ctG>ctC p.L286L GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TAAGTGGGTTCAGCGCAGGAG 0.547000 7 93 0 0 0.003080 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38162181 38162181 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:38162181G>A ENST00000317025.8 - 14 3052 c.2535C>T c.(2533-2535)ctC>ctT p.L845L WHSC1L1_ENST00000527502.1_Silent_p.L845L|WHSC1L1_ENST00000433384.2_Silent_p.L845L NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 845 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TACTACAGATGAGAATGTAGG 0.438000 T NUP98 AML 17 94 0 0 0.004990 0 0 LIMK1 3984 broad.mit.edu 37 7 73520530 73520530 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:73520530C>T ENST00000418310.1 + 7 1030 c.928C>T c.(928-930)Ccc>Tcc p.P310S LIMK1_ENST00000336180.2_Missense_Mutation_p.P280S|LIMK1_ENST00000538333.3_Missense_Mutation_p.P246S P53667 LIMK1_HUMAN LIM domain kinase 1 280 actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) GGCTTATACTCCCAGCGGGGA 0.657000 36 176 0 0 0.003755 0 0 UNC5D 137970 broad.mit.edu 37 8 35616848 35616848 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:35616848C>G ENST00000287272.2 + 13 1987 c.1967C>G c.(1966-1968)tCa>tGa p.S656* UNC5D_ENST00000449677.1_Nonsense_Mutation_p.S301*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.S658*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.S730*|UNC5D_ENST00000453357.2_Nonsense_Mutation_p.S720*|UNC5D_ENST00000404895.2_Nonsense_Mutation_p.S725* Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 725 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GAAGTGGTTTCAGATGAAAGG 0.378000 22 68 0 0 0.010504 0 0 RTEL1 51750 broad.mit.edu 37 20 62298846 62298846 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:62298846G>C ENST00000318100.4 + 8 1466 c.639G>C c.(637-639)cgG>cgC p.R213R RTEL1_ENST00000508582.2_Silent_p.R237R|RTEL1_ENST00000370018.3_Silent_p.R213R|RTEL1_ENST00000360203.5_Silent_p.R213R|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.R213R Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 213 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) ACCTGTCCCGGAACCTGAAGC 0.572000 61 145 0 0 0.003610 0 0 SNAP91 9892 broad.mit.edu 37 6 84311158 84311158 + Splice_Site SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:84311158C>G ENST00000428679.2 - 16 1750 c.e16-1 SNAP91_ENST00000195649.6_Splice_Site|SNAP91_ENST00000369694.2_Splice_Site|SNAP91_ENST00000521743.1_Splice_Site|SNAP91_ENST00000521485.1_Splice_Site|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520302.1_Splice_Site|SNAP91_ENST00000439399.2_Splice_Site|SNAP91_ENST00000520213.1_Intron O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GCCAAAGAATCTATATTTCAC 0.413000 5 40 0 0 0.000602 0 0 ABAT 18 broad.mit.edu 37 16 8873373 8873373 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:8873373G>A ENST00000396600.2 + 15 2245 c.1307G>A c.(1306-1308)cGa>cAa p.R436Q ABAT_ENST00000569156.1_Missense_Mutation_p.R436Q|ABAT_ENST00000425191.2_Missense_Mutation_p.R436Q|ABAT_ENST00000268251.8_Missense_Mutation_p.R436Q|ABAT_ENST00000567812.1_Missense_Mutation_p.R451Q NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 436 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) GTGAGAGGACGAGGCACCTTT 0.532000 8 51 0 0 0.004482 0 0 CELSR2 1952 broad.mit.edu 37 1 109795615 109795615 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:109795615G>A ENST00000271332.3 + 1 2975 c.2914G>A c.(2914-2916)Gac>Aac p.D972N NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 972 Cadherin 8. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTTTCAGCTGGACATCTTCTC 0.592000 28 76 0 0 0.006320 0 0 MCM2 4171 broad.mit.edu 37 3 127327234 127327234 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:127327234C>T ENST00000265056.7 + 7 1355 c.1111C>T c.(1111-1113)Cag>Tag p.Q371* NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 371 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 GACCATCTATCAGAACTACCA 0.572000 68 229 0 0 0.003610 0 0 ZNF584 201514 broad.mit.edu 37 19 58921347 58921347 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:58921347G>C ENST00000306910.4 + 2 581 c.58G>C c.(58-60)Gag>Cag p.E20Q ZNF584_ENST00000599238.1_Intron|ZNF584_ENST00000596921.1_Intron|ZNF584_ENST00000322834.7_Missense_Mutation_p.E12Q|ZNF584_ENST00000596281.1_Intron|ZNF584_ENST00000593920.1_Intron NM_173548.1 NP_775819.1 Q8IVC4 ZN584_HUMAN zinc finger protein 584 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) GGTGATGTTTGAGGATGTGAC 0.498000 23 81 0 0 0.003330 0 0 CEP104 9731 broad.mit.edu 37 1 3756183 3756183 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:3756183C>G ENST00000378230.3 - 7 1048 c.724G>C c.(724-726)Gat>Cat p.D242H NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 242 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 TTTTGCAAATCAGCAATGGCT 0.348000 14 89 0 0 0.002450 0 0 ZNF816 125893 broad.mit.edu 37 19 53454424 53454424 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:53454424G>A ENST00000357666.4 - 5 904 c.604C>T c.(604-606)Cat>Tat p.H202Y ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H202Y NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TTAGAAATATGAGTTTTGAGC 0.368000 19 66 0 0 0.006122 0 0 SLC22A15 55356 broad.mit.edu 37 1 116577934 116577934 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:116577934G>A ENST00000369503.4 + 7 1201 c.1071G>A c.(1069-1071)ttG>ttA p.L357L SLC22A15_ENST00000481127.1_3'UTR NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 357 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GTATCTACTTGATTAACCAAA 0.438000 12 28 0 0 0.010729 0 0 PCMTD2 55251 broad.mit.edu 37 20 62904683 62904683 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:62904683G>C ENST00000308824.6 + 6 943 c.816G>C c.(814-816)aaG>aaC p.K272N PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.6_Missense_Mutation_p.K48N|PCMTD2_ENST00000369758.3_Missense_Mutation_p.K245N NM_018257.2 NP_060727.2 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 272 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) ACGGACTAAAGAACACCCCCA 0.493000 27 87 0 0 0.005443 0 0 OR6C6 283365 broad.mit.edu 37 12 55688558 55688558 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:55688558G>A ENST00000358433.2 - 1 458 c.459C>T c.(457-459)atC>atT p.I153I NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 GGGGAAATATGATTAAGAATC 0.418000 8 49 0 0 0.003080 0 0 CDH24 64403 broad.mit.edu 37 14 23523752 23523752 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:23523752G>C ENST00000397359.3 - 5 1006 c.747C>G c.(745-747)ctC>ctG p.L249L CDH24_ENST00000267383.5_Silent_p.L249L|CDH24_ENST00000487137.2_Silent_p.L249L|CDH24_ENST00000554034.1_Silent_p.L249L NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 249 Cadherin 2. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) TGACATCGCTGAGCGTGACAG 0.607000 OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 27 0 0 0.001368 0 0 TRIP11 9321 broad.mit.edu 37 14 92471517 92471517 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92471517C>G ENST00000267622.4 - 11 3176 c.2803G>C c.(2803-2805)Gag>Cag p.E935Q NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 935 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTCTTTTGCTCTTGTAAAGAC 0.368000 T PDGFRB AML 15 107 0 0 0.004007 0 0 MALAT1 378938 broad.mit.edu 37 11 65272108 65272108 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65272108G>A ENST00000534336.1 + 0 6876 NR_002819.2 GGAGGGGACTGAAGCCTTTAG 0.373000 8 23 0 0 0.003080 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1797130 1797130 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:1797130C>T ENST00000250894.4 + 6 1002 c.845C>T c.(844-846)tCg>tTg p.S282L MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.S282L NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 282 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 TCCGTGCCCTCGGCCGCCGTC 0.672000 30 54 0 0 0.010818 0 0 MOGS 7841 broad.mit.edu 37 2 74690021 74690021 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:74690021C>T ENST00000233616.4 - 4 1057 c.895G>A c.(895-897)Ggc>Agc p.G299S MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.G193S|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000409065.1_3'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 299 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity p.G299C(1) cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 CCTGGCAAGCCGAGGTAGCGT 0.582000 51 134 0 0 0.003610 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530308 140530308 + Missense_Mutation SNP A A T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:140530308A>T ENST00000231136.1 + 1 470 c.470A>T c.(469-471)cAc>cTc p.H157L PCDHB6_ENST00000543635.1_Missense_Mutation_p.H21L NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 157 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAATGGCACACGATTTAGAC 0.483000 43 156 0 0 0.009718 0 0 TBC1D31 93594 broad.mit.edu 37 8 124109599 124109599 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:124109599G>C ENST00000287380.1 + 6 839 c.749G>C c.(748-750)aGa>aCa p.R250T TBC1D31_ENST00000378080.2_Missense_Mutation_p.R145T|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R145T|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R145T|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R250T|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R250T NM_145647.3 NP_663622.2 TBC1 domain family, member 31 CAGCTCTTTAGAATTATCCAG 0.408000 13 50 0 0 0.001855 0 0 SLC1A3 6507 broad.mit.edu 37 5 36686317 36686317 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:36686317G>A ENST00000265113.4 + 10 2051 c.1575G>A c.(1573-1575)ctG>ctA p.L525L SLC1A3_ENST00000381918.3_Silent_p.L480L|CTD-2353F22.1_ENST00000510740.1_RNA NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 525 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) CATATCAACTGATTGCACAGG 0.393000 27 185 0 0 0.006320 0 0 CMYA5 202333 broad.mit.edu 37 5 79029812 79029812 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:79029812C>T ENST00000446378.2 + 2 5255 c.5224C>T c.(5224-5226)Cag>Tag p.Q1742* NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1742 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGAAGAATTTCAGCCATTTAC 0.423000 11 45 0 0 0.010729 0 0 TRIP11 9321 broad.mit.edu 37 14 92469841 92469841 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92469841C>T ENST00000267622.4 - 11 4852 c.4479G>A c.(4477-4479)ctG>ctA p.L1493L NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1493 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CTTTTTCTCGCAGCATCATAG 0.378000 T PDGFRB AML 20 92 0 0 0.010504 0 0 DNAH17 8632 broad.mit.edu 37 17 76455962 76455962 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:76455962G>A ENST00000389840.5 - 60 9639 c.9515C>T c.(9514-9516)gCg>gTg p.A3172V DNAH17_ENST00000585328.1_Missense_Mutation_p.A3181V|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GATCTTGGCCGCCTTCCAGCT 0.592000 41 34 0 0 0.007835 0 0 MROH2B 133558 broad.mit.edu 37 5 41057214 41057214 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:41057214G>C ENST00000399564.4 - 9 1366 c.916C>G c.(916-918)Cta>Gta p.L306V MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GTCCTACCTAGAATGAGAAAA 0.413000 10 44 0 0 0.006214 0 0 ATP13A4 84239 broad.mit.edu 37 3 193185208 193185208 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:193185208C>G ENST00000342695.4 - 10 1333 c.1011G>C c.(1009-1011)caG>caC p.Q337H ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q337H|ATP13A4_ENST00000295548.3_Missense_Mutation_p.Q337H NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 337 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCGCTTCACTCTGTGTTTTCC 0.502000 19 163 0 0 0.010504 0 0 RASD1 51655 broad.mit.edu 37 17 17398763 17398763 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:17398763G>A ENST00000225688.3 - 2 733 c.522C>T c.(520-522)ttC>ttT p.F174F RASD1_ENST00000579152.1_3'UTR NM_001199989.1|NM_016084.4 NP_001186918.1|NP_057168.1 Q9Y272 RASD1_HUMAN RAS, dexamethasone-induced 1 174 G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction nucleus|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 CCGAGATCTCGAAGTAGGCGC 0.647000 5 9 0 0 0.001168 0 0 FCAR 2204 broad.mit.edu 37 19 55401049 55401049 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:55401049G>C ENST00000355524.3 + 5 694 c.684G>C c.(682-684)ttG>ttC p.L228F FCAR_ENST00000391724.3_Missense_Mutation_p.L194F|FCAR_ENST00000391725.3_Missense_Mutation_p.L206F|FCAR_ENST00000391723.3_Missense_Mutation_p.D192H|FCAR_ENST00000353758.4_Missense_Mutation_p.L119F|FCAR_ENST00000391726.3_Missense_Mutation_p.L120F|FCAR_ENST00000359272.4_Missense_Mutation_p.L216F|FCAR_ENST00000345937.4_Missense_Mutation_p.L132F|FCAR_ENST00000482092.2_3'UTR NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 228 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CGCAGAACTTGATCCGCATGG 0.537000 108 317 0 0 0.003610 0 0 PHF23 79142 broad.mit.edu 37 17 7139717 7139717 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:7139717G>A ENST00000320316.3 - 4 755 c.529C>T c.(529-531)Cct>Tct p.P177S PHF23_ENST00000576955.1_Missense_Mutation_p.P47S|PHF23_ENST00000454255.2_Missense_Mutation_p.P173S|PHF23_ENST00000571362.1_Missense_Mutation_p.P110S NM_024297.2 NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 177 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 TTTCGAGGAGGATGGGAGAGG 0.632000 21 49 0 0 0.010504 0 0 KIF27 55582 broad.mit.edu 37 9 86518439 86518439 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:86518439G>C ENST00000297814.2 - 4 1137 c.994C>G c.(994-996)Ctc>Gtc p.L332V KIF27_ENST00000413982.1_Missense_Mutation_p.L332V|KIF27_ENST00000334204.2_Missense_Mutation_p.L332V NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 332 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 GCATATTTGAGAGAATTTAAG 0.433000 22 80 0 0 0.002299 0 0 CCDC9 26093 broad.mit.edu 37 19 47763996 47763996 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:47763996G>A ENST00000221922.6 + 5 584 c.362G>A c.(361-363)cGa>cAa p.R121Q NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 121 Gly-rich. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) GAGCAGCCTCGAGGAGGAGGA 0.716000 12 24 0 0 0.010729 0 0 ZNF784 147808 broad.mit.edu 37 19 56133815 56133815 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:56133815C>T ENST00000325351.4 - 2 313 c.274G>A c.(274-276)Gag>Aag p.E92K ZNF784_ENST00000591479.1_3'UTR NM_203374.1 NP_976308.1 Q8NCA9 ZN784_HUMAN zinc finger protein 784 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CCGCCTCCCTCGGCCCCAGCC 0.711000 5 18 0 0 0.001168 0 0 STAT2 6773 broad.mit.edu 37 12 56740694 56740694 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:56740694C>A ENST00000314128.4 - 20 1793 c.1770G>T c.(1768-1770)ctG>ctT p.L590L STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Silent_p.L586L P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 590 SH2. interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 TGGTCTTCTTCAGCAGCCGGC 0.607000 21 95 6.33239e-15 6.87963e-15 0.010504 1 0 LRBA 987 broad.mit.edu 37 4 151773393 151773393 + Nonsense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:151773393G>A ENST00000535741.1 - 23 3942 c.3469C>T c.(3469-3471)Caa>Taa p.Q1157* LRBA_ENST00000357115.3_Nonsense_Mutation_p.Q1157*|LRBA_ENST00000507224.1_Nonsense_Mutation_p.Q1157*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.Q1157* P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1157 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TTTCCTTCTTGAAATATTAAT 0.383000 21 66 0 0 0.008871 0 0 DSTYK 25778 broad.mit.edu 37 1 205138659 205138659 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:205138659T>C ENST00000367162.3 - 3 986 c.956A>G c.(955-957)aAc>aGc p.N319S DSTYK_ENST00000367160.4_Missense_Mutation_p.N319S|DSTYK_ENST00000367161.3_Missense_Mutation_p.N319S NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 319 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 AGCCCCACAGTTCCAGTGACT 0.498000 10 52 0 0 0.008291 0 0 NACA 4666 broad.mit.edu 37 12 57106570 57106570 + Splice_Site SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57106570C>T ENST00000454682.1 - 8 6503 c.6222_splice c.e8+1 p.M2074_splice NACA_ENST00000393891.4_Splice_Site_p.M211_splice|NACA_ENST00000550952.1_Splice_Site_p.M921_splice|NACA_ENST00000552540.1_Splice_Site_p.M211_splice|NACA_ENST00000548563.1_Splice_Site_p.M132_splice|NACA_ENST00000546392.1_Splice_Site_p.M211_splice|NACA_ENST00000356769.3_Splice_Site_p.M211_splice NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 211 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GAACACTTACCATAATCGCAT 0.403000 T BCL6 NHL 17 79 0 0 0.006122 0 0 TRPM1 4308 broad.mit.edu 37 15 31338418 31338418 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:31338418G>C ENST00000542188.1 - 15 2147 c.1834C>G c.(1834-1836)Ctg>Gtg p.L612V TRPM1_ENST00000256552.6_Missense_Mutation_p.L595V|TRPM1_ENST00000397795.2_Missense_Mutation_p.L573V NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 573 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) TCCATTCCCAGAAGTTTAAGA 0.313000 11 25 0 0 0.008291 0 0 C6orf222 389384 broad.mit.edu 37 6 36285134 36285134 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:36285134C>T ENST00000437635.2 - 12 2135 c.1958G>A c.(1957-1959)tGa>tAa p.*653* NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 0 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 ACACAGCTTTCAATCTGGACT 0.443000 19 37 0 0 0.006122 0 0 ERN1 2081 broad.mit.edu 37 17 62121446 62121446 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:62121446G>A ENST00000433197.2 - 22 2931 c.2836C>T c.(2836-2838)Cgg>Tgg p.R946W NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 946 KEN. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 TCCATGGCCCGGTAGGTGTGT 0.657000 5 133 0 0 0.001168 0 0 FNIP2 57600 broad.mit.edu 37 4 159791564 159791564 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:159791564C>T ENST00000264433.6 + 14 2967 c.2892C>T c.(2890-2892)acC>acT p.T964T FNIP2_ENST00000379346.3_Silent_p.T987T NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 964 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding p.T964T(1)|p.T290T(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) TTCATGGGACCGGCAGTGATG 0.562000 16 31 0 0 0.004007 0 0 CLTCL1 8218 broad.mit.edu 37 22 19207486 19207486 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:19207486C>T ENST00000263200.10 - 18 2899 c.2827G>A c.(2827-2829)Gag>Aag p.E943K CLTCL1_ENST00000427926.1_Missense_Mutation_p.E943K|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E943K NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 943 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) TAGCGGGCCTCGCTTTTGAAC 0.552000 T ? ALCL 38 130 0 0 0.005524 0 0 FAM111A 63901 broad.mit.edu 37 11 58919875 58919875 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:58919875A>G ENST00000528737.1 + 5 3552 c.734A>G c.(733-735)aAc>aGc p.N245S FAM111A_ENST00000361723.3_Missense_Mutation_p.N245S|FAM111A_ENST00000420244.1_Missense_Mutation_p.N245S|FAM111A_ENST00000533703.1_Missense_Mutation_p.N245S|FAM111A_ENST00000531147.1_Missense_Mutation_p.N245S Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 245 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) CTCATTGAAAACAATGACACC 0.418000 15 73 0 0 0.002450 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994519 45994519 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:45994519C>G ENST00000400374.3 + 1 914 c.884C>G c.(883-885)tCt>tGt p.S295C TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 295 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 GGGGCTTCCTCTCTGTGCTGC 0.637000 13 181 0 0 0.001368 0 0 MALAT1 378938 broad.mit.edu 37 11 65272931 65272931 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65272931G>A ENST00000534336.1 + 0 7699 NR_002819.2 AGCGGTGCTTGAAGGGGAGGG 0.468000 14 77 0 0 0.007413 0 0 SUPT6H 6830 broad.mit.edu 37 17 27001375 27001375 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:27001375G>C ENST00000314616.6 + 3 467 c.184G>C c.(184-186)Gat>Cat p.D62H SUPT6H_ENST00000347486.4_Missense_Mutation_p.D62H NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 62 Asp/Glu-rich. DDDEDEGEEDEGS -> ATAPGHPKLSEGR (in Ref. 1; AAC50821). chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CAATGACGATGATGATGAAGA 0.473000 10 27 0 0 0.008291 0 0 TRIP11 9321 broad.mit.edu 37 14 92471562 92471562 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92471562C>T ENST00000267622.4 - 11 3131 c.2758G>A c.(2758-2760)Gaa>Aaa p.E920K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 920 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTTTGATCTTCAATTATCTTT 0.373000 T PDGFRB AML 24 86 0 0 0.002780 0 0 YY1 7528 broad.mit.edu 37 14 100743853 100743853 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:100743853C>T ENST00000262238.4 + 5 1421 c.1161C>T c.(1159-1161)ttC>ttT p.F387F NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 387 Involved in masking transactivation domain. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) TGTGCCCCTTCGATGGTTGTA 0.458000 18 50 0 0 0.004990 0 0 DTX4 23220 broad.mit.edu 37 11 58972245 58972245 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:58972245G>A ENST00000227451.3 + 9 1827 c.1723G>A c.(1723-1725)Gag>Aag p.E575K DTX4_ENST00000532982.1_Missense_Mutation_p.E469K NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 575 Notch signaling pathway cytoplasm zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) CATCTGGAATGAGGTCCACCA 0.562000 4 18 0 0 0.009096 0 0 ZNF700 90592 broad.mit.edu 37 19 12060474 12060474 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:12060474C>T ENST00000482090.1 + 3 1999 c.1581C>T c.(1579-1581)ttC>ttT p.F527F ZNF700_ENST00000254321.5_Silent_p.F545F|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron Q9H0M5 ZN700_HUMAN zinc finger protein 700 545 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 GTAAAGCCTTCAGATGTTGCA 0.423000 17 61 0 0 0.004007 0 0 SRCAP 10847 broad.mit.edu 37 16 30749759 30749759 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:30749759G>C ENST00000262518.4 + 34 8783 c.8398G>C c.(8398-8400)Gaa>Caa p.E2800Q SRCAP_ENST00000344771.4_Missense_Mutation_p.E2642Q|SRCAP_ENST00000395059.2_Missense_Mutation_p.E2738Q NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2800 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GTCAGGGCCAGAATCCTCCCC 0.652000 4 76 0 0 0.009096 0 0 TSSK6 83983 broad.mit.edu 37 19 19625897 19625897 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:19625897C>T ENST00000360913.3 - 1 941 c.340G>A c.(340-342)Gac>Aac p.D114N TSSK6_ENST00000585580.3_Missense_Mutation_p.D114N Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 114 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.D114N(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 GCAAAGAGGTCGCGCGCCTGA 0.657000 22 53 0 0 0.010504 0 0 CEP250 11190 broad.mit.edu 37 20 34054880 34054880 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:34054880G>C ENST00000397527.1 + 8 1302 c.582G>C c.(580-582)atG>atC p.M194I CEP250_ENST00000397524.1_Missense_Mutation_p.M194I|CEP250_ENST00000342580.4_Missense_Mutation_p.M194I NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 194 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) TCCTGGAAATGAAGTCAGCTA 0.527000 16 45 0 0 0.004990 0 0 SUMF2 25870 broad.mit.edu 37 7 56142396 56142396 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:56142396G>A ENST00000434526.2 + 5 590 c.559G>A c.(559-561)Gag>Aag p.E187K SUMF2_ENST00000342190.6_Missense_Mutation_p.E187K|SUMF2_ENST00000395436.2_Missense_Mutation_p.E172K|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.E168K|SUMF2_ENST00000275607.9_Missense_Mutation_p.E80K NM_001042469.1|NM_015411.2 NP_001035934.2|NP_056226.2 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 168 endoplasmic reticulum lumen metal ion binding breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 14 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CACGGAGGAAGAGTGGGAGTT 0.567000 OREG0018081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 112 0 0 0.001984 0 0 CYFIP1 23191 broad.mit.edu 37 15 22935917 22935917 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:22935917G>A ENST00000313077.7 + 9 978 c.853G>A c.(853-855)Gat>Aat p.D285N CYFIP1_ENST00000560848.1_Missense_Mutation_p.D285N NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 285 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CTATAAGTTGGATGCCAAGAA 0.368000 5 26 0 0 0.001168 0 0 HERC1 8925 broad.mit.edu 37 15 63986220 63986220 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:63986220C>T ENST00000443617.2 - 30 5704 c.5617G>A c.(5617-5619)Gaa>Aaa p.E1873K RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1873 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 tcttcttcttcaccgtcttct 0.393000 3 8 0 0 0.004672 0 0 HOXB7 3217 broad.mit.edu 37 17 46685395 46685395 + Nonsense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:46685395C>A ENST00000239165.7 - 2 561 c.463G>T c.(463-465)Gaa>Taa p.E155* HOXB7_ENST00000567101.1_5'UTR NM_004502.3 NP_004493.3 P09629 HXB7_HUMAN homeobox B7 155 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 8 TAGTGAAATTCTTTCTCCAGC 0.542000 29 90 7.26314e-15 7.88001e-15 0.007291 1 0 CIT 11113 broad.mit.edu 37 12 120241085 120241085 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:120241085G>A ENST00000392521.2 - 10 1275 c.1220C>T c.(1219-1221)tCa>tTa p.S407L CIT_ENST00000261833.7_Missense_Mutation_p.S407L NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 407 AGC-kinase C-terminal. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CGAGAAGCCTGAGGGGCTCAG 0.493000 34 85 0 0 0.010818 0 0 USP9X 8239 broad.mit.edu 37 X 41000592 41000592 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:41000592G>A ENST00000324545.7 + 9 1702 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K USP9X_ENST00000378308.2_Missense_Mutation_p.E357K NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 357 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TGCACTGAATGAAGTTAATAA 0.348000 10 5 0 0 0.006214 0 0 NACA 4666 broad.mit.edu 37 12 57110609 57110609 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57110609C>G ENST00000454682.1 - 3 4986 c.4705G>C c.(4705-4707)Gaa>Caa p.E1569Q NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GCTGGGGCTTCTTTGGGGGTT 0.567000 T BCL6 NHL 7 20 0 0 0.001984 0 0 MYH9 4627 broad.mit.edu 37 22 36691645 36691645 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:36691645C>T ENST00000216181.5 - 26 3621 c.3391G>A c.(3391-3393)Gag>Aag p.E1131K NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1131 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTCTGCTTCTCAGCTTTATTC 0.547000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 36 0 0 0.003163 0 0 HDHD3 81932 broad.mit.edu 37 9 116136231 116136231 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:116136231G>C ENST00000238379.5 - 2 1301 c.404C>G c.(403-405)tCc>tGc p.S135C HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Missense_Mutation_p.S135C NM_031219.2 NP_112496.1 Q9BSH5 HDHD3_HUMAN haloacid dehalogenase-like hydrolase domain containing 3 135 phosphoglycolate phosphatase activity|protein binding large_intestine(2)|liver(1) 3 GTCAAAGTTGGAGATCACTGC 0.622000 43 137 0 0 0.003610 0 0 TAOK2 9344 broad.mit.edu 37 16 29994478 29994478 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:29994478C>G ENST00000308893.4 + 12 2128 c.1085C>G c.(1084-1086)tCc>tGc p.S362C TAOK2_ENST00000279394.3_Missense_Mutation_p.S362C|TAOK2_ENST00000416441.2_Missense_Mutation_p.S189C|TAOK2_ENST00000543033.1_Missense_Mutation_p.S362C NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 362 Ser-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 ATCAGCGCCTCCAGCCAGAGC 0.627000 42 96 0 0 0.009718 0 0 KPRP 448834 broad.mit.edu 37 1 152732722 152732722 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:152732722C>T ENST00000368773.1 + 2 716 c.658C>T c.(658-660)Cag>Tag p.Q220* KPRP_ENST00000606109.1_Nonsense_Mutation_p.Q220* NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 220 cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTTTCCCTCAGTATCGGTC 0.577000 9 138 0 0 0.010729 0 0 F11R 50848 broad.mit.edu 37 1 160970527 160970527 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:160970527G>A ENST00000368026.6 - 4 556 c.282C>T c.(280-282)atC>atT p.I94I F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Intron NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 94 Ig-like V-type 1. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) ACTTGAAGGTGATACCAGTTG 0.537000 9 46 0 0 0.004482 0 0 MUC16 94025 broad.mit.edu 37 19 9011341 9011341 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:9011341C>T ENST00000397910.4 - 36 39095 c.38892G>A c.(38890-38892)agG>agA p.R12964R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12966 SEA 6. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGACTGTTCCTGTCCAGGG 0.547000 49 150 0 0 0.003610 0 0 SPIRE2 84501 broad.mit.edu 37 16 89930015 89930015 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:89930015G>T ENST00000378247.3 + 11 1750 c.1707G>T c.(1705-1707)ggG>ggT p.G569G SPIRE2_ENST00000393062.2_Silent_p.G569G NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 569 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) TGAAGAAGGGGAAGGTGAGGC 0.587000 12 60 3.07112e-06 3.20464e-06 0.010729 1 0 R3HDM1 23518 broad.mit.edu 37 2 136399347 136399347 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:136399347C>T ENST00000264160.4 + 15 1831 c.1461C>T c.(1459-1461)atC>atT p.I487I R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000410054.1_Silent_p.I431I|R3HDM1_ENST00000409606.1_Silent_p.I487I|R3HDM1_ENST00000329971.3_Intron NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 487 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) GTATTCTGATCAACCCACAAA 0.418000 14 47 0 0 0.003163 0 0 CBX7 23492 broad.mit.edu 37 22 39530549 39530549 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:39530549G>C ENST00000216133.5 - 5 660 c.455C>G c.(454-456)tCg>tGg p.S152W CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Intron NM_175709.3 NP_783640.1 O95931 CBX7_HUMAN chromobox homolog 7 152 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Melanoma(58;0.04) CTTCTTGCGCGAGAGCCGCAG 0.701000 6 20 0 0 0.001168 0 0 KDM5B 10765 broad.mit.edu 37 1 202725518 202725518 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:202725518C>G ENST00000367265.3 - 10 2488 c.1324G>C c.(1324-1326)Gat>Cat p.D442H KDM5B_ENST00000367264.2_Missense_Mutation_p.D478H|KDM5B_ENST00000456180.1_5'UTR NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 442 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 ATTTTCCCATCTCGGACAGGA 0.418000 40 92 0 0 0.007835 0 0 LIMS2 55679 broad.mit.edu 37 2 128415128 128415128 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:128415128G>A ENST00000409455.1 - 2 640 c.5C>T c.(4-6)tCg>tTg p.S2L LIMS2_ENST00000410011.1_Missense_Mutation_p.S2L|LIMS2_ENST00000324938.5_Missense_Mutation_p.S31L|LIMS2_ENST00000355119.4_Missense_Mutation_p.S7L|LIMS2_ENST00000409808.2_Missense_Mutation_p.S2L|LIMS2_ENST00000545738.2_Missense_Mutation_p.S29L Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 7 cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) CAAGGCGTCCGACATATTGCT 0.662000 24 61 0 0 0.002780 0 0 HRG 3273 broad.mit.edu 37 3 186395631 186395631 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:186395631C>T ENST00000232003.4 + 7 1617 c.1537C>T c.(1537-1539)Cca>Tca p.P513S NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 513 fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GAGTGGGTTTCCACAAGTTTC 0.363000 33 88 0 0 0.012213 0 0 OR1L3 26735 broad.mit.edu 37 9 125438072 125438072 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:125438072C>T ENST00000304820.2 + 1 758 c.664C>T c.(664-666)Ctc>Ttc p.L222F NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 TCTAAGAATTCTCATCGCTGT 0.468000 23 72 0 0 0.012319 0 0 CHD1L 9557 broad.mit.edu 37 1 146756150 146756150 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:146756150G>A ENST00000369258.4 + 16 1852 c.1832G>A c.(1831-1833)cGa>cAa p.R611Q CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.R330Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.R517Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.R407Q NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 611 chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) CAAGAGGGCCGATCACTCCGA 0.348000 17 63 0 0 0.004007 0 0 C20orf194 25943 broad.mit.edu 37 20 3299010 3299010 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:3299010C>A ENST00000252032.9 - 17 1461 c.1394G>T c.(1393-1395)gGa>gTa p.G465V C20orf194_ENST00000453730.2_Missense_Mutation_p.G203V NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 465 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 ACCATTGCCTCCCAGTAAGTC 0.388000 25 61 3.73148e-12 4.02633e-12 0.007291 1 0 TEX35 84066 broad.mit.edu 37 1 178491564 178491564 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:178491564G>A ENST00000319416.2 + 9 803 c.691G>A c.(691-693)Gag>Aag p.E231K TEX35_ENST00000367639.1_Intron|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000258298.2_Intron|TEX35_ENST00000367641.3_3'UTR NM_032126.4 NP_115502.2 testis expressed 35 gtcccagactgagggaaggtg 0.522000 5 9 0 0 0.000602 0 0 GAN 8139 broad.mit.edu 37 16 81388253 81388253 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:81388253C>G ENST00000248272.3 + 3 688 c.526C>G c.(526-528)Caa>Gaa p.Q176E NM_022041.3 NP_071324.1 Q9H2C0 GAN_HUMAN gigaxonin 176 BACK. cell death cytoplasm|neurofilament protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) GCTGAGTCCTCAAAAGCTTAA 0.408000 21 50 0 0 0.010504 0 0 PIN4 5303 broad.mit.edu 37 X 71401627 71401627 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:71401627G>A ENST00000218432.5 + 1 102 c.67G>A c.(67-69)Gct>Act p.A23T PIN4_ENST00000373669.2_Missense_Mutation_p.A23T|PIN4_ENST00000423432.2_Missense_Mutation_p.A23T Q9Y237 PIN4_HUMAN protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) 0 Necessary for association with the pre- rRNP complexes.|Necessary for nuclear localization and DNA-binding. protein folding|rRNA processing cytoplasm|mitochondrial matrix|nucleolus|preribosome|spindle bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity large_intestine(1)|lung(2) 3 Renal(35;0.156) TCAACAACAAGCTTCCAAGAT 0.547000 5 11 0 0 0.001168 0 0 VPS33A 65082 broad.mit.edu 37 12 122750886 122750886 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:122750886G>T ENST00000267199.4 - 1 182 c.70C>A c.(70-72)Cgc>Agc p.R24S VPS33A_ENST00000451053.2_Missense_Mutation_p.R24S|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R24S NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 24 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AGGAACTCGCGCAGCTCGCGA 0.667000 10 41 4.68919e-08 4.96502e-08 0.008291 1 0 MYH9 4627 broad.mit.edu 37 22 36691644 36691644 + Missense_Mutation SNP T T A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:36691644T>A ENST00000216181.5 - 26 3622 c.3392A>T c.(3391-3393)gAg>gTg p.E1131V NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1131 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTTCTGCTTCTCAGCTTTATT 0.547000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 37 0 0 0.003163 0 0 TIGD4 201798 broad.mit.edu 37 4 153692046 153692046 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:153692046C>G ENST00000304337.2 - 2 931 c.111G>C c.(109-111)aaG>aaC p.K37N NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 37 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) CTGCTTTTTTCTTGCCACTTT 0.358000 29 55 0 0 0.006320 0 0 HAX1 10456 broad.mit.edu 37 1 154246316 154246316 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:154246316C>G ENST00000328703.7 + 3 596 c.383C>G c.(382-384)tCa>tGa p.S128* HAX1_ENST00000532105.1_5'UTR|HAX1_ENST00000457918.2_Nonsense_Mutation_p.S80*|HAX1_ENST00000483970.2_Nonsense_Mutation_p.S136* NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 128 Involved in HCLS1 binding. Cleavage; by caspase-3. actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTTCGGGACTCAATGCTTAAG 0.557000 Kostmann syndrome 26 103 0 0 0.006320 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72492036 72492036 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr10:72492036C>T ENST00000373208.1 + 7 1138 c.1138C>T c.(1138-1140)Cac>Tac p.H380Y ADAMTS14_ENST00000373207.1_Missense_Mutation_p.H377Y NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 377 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TGGCATGTGTCACCCCCTGAG 0.597000 3 23 0 0 0.004672 0 0 EPCAM 4072 broad.mit.edu 37 2 47601169 47601169 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:47601169C>G ENST00000263735.4 + 3 765 c.407C>G c.(406-408)tCt>tGt p.S136C EPCAM_ENST00000405271.1_Missense_Mutation_p.S164C NM_002354.2 NP_002345.2 P16422 EPCAM_HUMAN epithelial cell adhesion molecule 136 positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding p.0?(2)|p.?(1) endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1) 15 ATAACCTGCTCTGAGCGAGTG 0.433000 8 39 0 0 0.004482 0 0 RIN3 79890 broad.mit.edu 37 14 93022127 93022127 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:93022127G>C ENST00000216487.7 + 2 235 c.76G>C c.(76-78)Gag>Cag p.E26Q NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 26 Poly-Glu. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) AGGAGAGGAAGAGGAAGAGGA 0.517000 14 22 0 0 0.001855 0 0 KLHL3 26249 broad.mit.edu 37 5 137045500 137045500 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:137045500C>T ENST00000508657.1 - 3 798 c.84G>A c.(82-84)gaG>gaA p.E28E KLHL3_ENST00000309755.4_Silent_p.E60E|KLHL3_ENST00000394937.3_Silent_p.E60E NM_001257194.1 NP_001244123.1 Q9UH77 KLHL3_HUMAN kelch-like family member 3 60 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) GGGCTTCTATCTCGACATCTT 0.537000 26 100 0 0 0.007291 0 0 TNK2 10188 broad.mit.edu 37 3 195595308 195595308 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:195595308G>C ENST00000333602.6 - 12 2433 c.1816C>G c.(1816-1818)Cag>Gag p.Q606E TNK2_ENST00000428187.1_Missense_Mutation_p.Q638E|TNK2_ENST00000392400.1_Missense_Mutation_p.Q606E|TNK2_ENST00000381916.2_Missense_Mutation_p.Q684E NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 606 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GTGGGGCTCTGAGGCGGGGTC 0.766000 11 22 0 0 0.010729 0 0 SLC2A1 6513 broad.mit.edu 37 1 43394969 43394969 + Missense_Mutation SNP G G C rs80359823 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:43394969G>C ENST00000426263.3 - 7 1062 c.884C>G c.(883-885)aCg>aGg p.T295R SLC2A1_ENST00000475162.1_Intron NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 295 T -> M (in GLUT1DS1; 75% of wild-type glucose uptake activity). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) GAAGATGCTCGTGGAGTAATA 0.572000 7 9 0 0 0.003080 0 0 RPLP0 6175 broad.mit.edu 37 12 120635242 120635242 + Silent SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:120635242G>C ENST00000551150.1 - 6 990 c.675C>G c.(673-675)gtC>gtG p.V225V RPLP0_ENST00000313104.5_Silent_p.V163V|RPLP0_ENST00000546989.1_Silent_p.V189V|RPLP0_ENST00000552292.1_Silent_p.V15V|RPLP0_ENST00000228306.4_Silent_p.V225V|RPLP0_ENST00000392514.4_Silent_p.V225V P05388 RLA0_HUMAN ribosomal protein, large, P0 225 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCTGCAGACAGACACTGGCAA 0.488000 16 31 0 0 0.004990 0 0 FAM91A1 157769 broad.mit.edu 37 8 124810476 124810476 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:124810476C>T ENST00000334705.7 + 16 1804 c.1558C>T c.(1558-1560)Cag>Tag p.Q520* FAM91A1_ENST00000521166.1_Nonsense_Mutation_p.Q520* NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 520 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) CTGCACCCCTCAGGTAAAGAC 0.453000 17 52 0 0 0.004990 0 0 MOGAT1 116255 broad.mit.edu 37 2 223559247 223559247 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:223559247G>C ENST00000446656.3 + 4 645 c.645G>C c.(643-645)ttG>ttC p.L215F NM_058165.2 NP_477513.2 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 215 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) AAATTGCTTTGACCCATGGGT 0.413000 10 23 0 0 0.010729 0 0 COPB1 1315 broad.mit.edu 37 11 14507935 14507935 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:14507935G>C ENST00000249923.3 - 7 1115 c.815C>G c.(814-816)tCt>tGt p.S272C COPB1_ENST00000439561.2_Missense_Mutation_p.S272C NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 272 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 TGGTGCACTAGAGAGTGTCAC 0.398000 12 93 0 0 0.001855 0 0 NACA 4666 broad.mit.edu 37 12 57110634 57110634 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57110634C>G ENST00000454682.1 - 3 4961 c.4680G>C c.(4678-4680)aaG>aaC p.K1560N NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TTGCTGGGGTCTTTTTAGGGG 0.567000 T BCL6 NHL 11 27 0 0 0.001855 0 0 ARCN1 372 broad.mit.edu 37 11 118453900 118453900 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:118453900G>A ENST00000359415.4 + 4 562 c.397G>A c.(397-399)Gaa>Aaa p.E133K ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000264028.4_Missense_Mutation_p.E92K|ARCN1_ENST00000392859.3_Missense_Mutation_p.E4K P48444 COPD_HUMAN archain 1 92 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TTAGATCCCTGAATATTGCCG 0.348000 35 53 0 0 0.006999 0 0 RNF213 57674 broad.mit.edu 37 17 78358943 78358943 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:78358943C>T ENST00000582970.1 + 60 14570 c.14427C>T c.(14425-14427)atC>atT p.I4809I CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.I2882I|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Silent_p.I4858I|RNF213_ENST00000427003.3_3'UTR NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 1175 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ACAGCTCCATCAGAGGCTTCC 0.532000 11 44 0 0 0.010729 0 0 BMX 660 broad.mit.edu 37 X 15560113 15560113 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:15560113G>T ENST00000357607.2 + 15 1591 c.1403G>T c.(1402-1404)aGc>aTc p.S468I BMX_ENST00000348343.6_Missense_Mutation_p.S468I|BMX_ENST00000342014.6_Missense_Mutation_p.S468I P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 468 Protein kinase. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) AGGAAACTCAGCCATCCCAAG 0.373000 35 46 2.48696e-23 2.74327e-23 0.003271 1 0 BCAN 63827 broad.mit.edu 37 1 156621405 156621405 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:156621405C>T ENST00000329117.4 + 7 1557 c.1221C>T c.(1219-1221)tcC>tcT p.S407S RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.S407S NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 407 Glu-rich. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCATCTACTCCATCCCCATCA 0.577000 9 90 0 0 0.008291 0 0 ACIN1 22985 broad.mit.edu 37 14 23548138 23548138 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:23548138C>G ENST00000262710.1 - 7 2399 c.2072G>C c.(2071-2073)tGt>tCt p.C691S ACIN1_ENST00000555053.1_Missense_Mutation_p.C691S|ACIN1_ENST00000605057.1_Missense_Mutation_p.C633S|ACIN1_ENST00000457657.1_Missense_Mutation_p.C651S NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 691 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CTTTGGCTCACAGACCTGCAG 0.542000 9 39 0 0 0.006214 0 0 C16orf98 100652740 broad.mit.edu 37 16 31213943 31213943 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:31213943G>A ENST00000561916.2 + 2 265 c.169G>A c.(169-171)Gaa>Aaa p.E57K PYCARD_ENST00000247470.9_Silent_p.F23F|PYCARD_ENST00000350605.4_Silent_p.F23F chromosome 16 open reading frame 98 GCTTCAGCTTGAACTTCTTGA 0.706000 8 42 0 0 0.003080 0 0 RUFY3 22902 broad.mit.edu 37 4 71660554 71660554 + Missense_Mutation SNP A A T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:71660554A>T ENST00000381006.3 + 14 2079 c.1500A>T c.(1498-1500)agA>agT p.R500S RUFY3_ENST00000502653.1_Missense_Mutation_p.R447S NM_001037442.2 NP_001032519.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 335 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) AAGAAAGAAGATTACAAAACG 0.368000 6 91 0 0 0.001984 0 0 BTBD6 90135 broad.mit.edu 37 14 105716585 105716585 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:105716585C>A ENST00000463376.2 + 3 1350 c.809C>A c.(808-810)gCc>gAc p.A270D BRF1_ENST00000327359.3_Intron|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.A345D|BTBD6_ENST00000536364.1_Missense_Mutation_p.A345D|BTBD6_ENST00000327471.3_Missense_Mutation_p.A270D|BRF1_ENST00000379937.2_Intron Q96KE9 BTBD6_HUMAN BTB (POZ) domain containing 6 345 cytoplasmic mRNA processing body endometrium(1)|lung(3) 4 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) CAGTCTTCTGCCTACCGCAGC 0.622000 18 57 3.52763e-06 3.67616e-06 0.004990 1 0 SLCO1B1 10599 broad.mit.edu 37 12 21358889 21358889 + Silent SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:21358889C>G ENST00000256958.2 + 11 1515 c.1419C>G c.(1417-1419)gtC>gtG p.V473V NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 473 Kazal-like. bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GGGAACCAGTCTGTGGAAACA 0.368000 11 82 0 0 0.010729 0 0 RASGRF1 5923 broad.mit.edu 37 15 79296198 79296198 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:79296198C>T ENST00000419573.3 - 16 2717 c.2443G>A c.(2443-2445)Gag>Aag p.E815K RASGRF1_ENST00000394745.3_Missense_Mutation_p.E31K|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E799K NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 817 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GTATCGCCCTCATCTGGAATC 0.607000 14 38 0 0 0.002450 0 0 FAM3B 54097 broad.mit.edu 37 21 42694889 42694889 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:42694889G>T ENST00000398652.3 + 3 242 c.176G>T c.(175-177)tGt>tTt p.C59F FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Missense_Mutation_p.C43F|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000357985.2_Missense_Mutation_p.C20F P58499 FAM3B_HUMAN family with sequence similarity 3, member B 20 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) GCCTCCTTGTGTGCCTGGTAT 0.622000 9 44 0.000442599 0.000455837 0.006214 1 0 FAM20A 54757 broad.mit.edu 37 17 66548055 66548055 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:66548055C>T ENST00000592554.1 - 4 1400 c.678G>A c.(676-678)ctG>ctA p.L226L FAM20A_ENST00000226094.5_5'UTR NM_001243746.1|NM_017565.3 NP_001230675.1|NP_060035.2 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 226 extracellular region cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) CCGAGAACCTCAGCACCAGCT 0.552000 3 3 0 0 0.009096 0 0 DLG1 1739 broad.mit.edu 37 3 196792287 196792287 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:196792287C>T ENST00000346964.2 - 23 2521 c.2332G>A c.(2332-2334)Gat>Aat p.D778N DLG1_ENST00000419354.1_Missense_Mutation_p.D756N|DLG1_ENST00000357674.4_Missense_Mutation_p.D745N|DLG1_ENST00000452595.1_Missense_Mutation_p.D640N|DLG1_ENST00000314062.3_Missense_Mutation_p.D705N|DLG1_ENST00000450955.1_Missense_Mutation_p.D745N|DLG1_ENST00000448528.2_Missense_Mutation_p.D756N|DLG1_ENST00000443183.1_Missense_Mutation_p.D652N|DLG1_ENST00000422288.1_Missense_Mutation_p.D705N|DLG1_ENST00000392382.2_Missense_Mutation_p.D723N NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 756 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TCTCTTCCATCTACCTCATAA 0.303000 7 135 0 0 0.001984 0 0 ZNF354C 30832 broad.mit.edu 37 5 178507032 178507032 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:178507032C>T ENST00000315475.6 + 5 1905 c.1599C>T c.(1597-1599)ttC>ttT p.F533F NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) GGAAACCTTTCATCTGCAGCT 0.383000 19 84 0 0 0.006320 0 0 HUWE1 10075 broad.mit.edu 37 X 53602642 53602642 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:53602642C>G ENST00000342160.3 - 44 6448 c.5991G>C c.(5989-5991)caG>caC p.Q1997H HUWE1_ENST00000262854.6_Missense_Mutation_p.Q1997H Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1997 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AGTCACTGCTCTGACGCGTAA 0.448000 6 7 0 0 0.001984 0 0 FGGY 55277 broad.mit.edu 37 1 59844477 59844477 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:59844477C>G ENST00000371218.4 + 5 706 c.522C>G c.(520-522)ttC>ttG p.F174L FGGY_ENST00000303721.7_Missense_Mutation_p.F174L|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Missense_Mutation_p.F86L NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 174 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TCCCGGACTTCTTATCGTGGA 0.393000 3 47 0 0 0.004672 0 0 MAP10 54627 broad.mit.edu 37 1 232941206 232941206 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:232941206C>G ENST00000418460.1 + 1 564 c.437C>G c.(436-438)tCg>tGg p.S146W NM_019090.2 NP_061963.2 microtubule-associated protein 10 ATGGCGGCCTCGCTGTCCGAG 0.677000 7 14 0 0 0.001984 0 0 TRANK1 9881 broad.mit.edu 37 3 36897603 36897603 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:36897603C>G ENST00000301807.6 - 12 3725 c.1828G>C c.(1828-1830)Gag>Cag p.E610Q TRANK1_ENST00000429976.2_Missense_Mutation_p.E1160Q|TRANK1_ENST00000428977.2_Missense_Mutation_p.E610Q NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1160 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CTTTGTACCTCCTGGCACAGC 0.502000 8 117 0 0 0.003080 0 0 TRIP11 9321 broad.mit.edu 37 14 92471001 92471001 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92471001C>T ENST00000267622.4 - 11 3692 c.3319G>A c.(3319-3321)Gag>Aag p.E1107K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1107 E -> D (in dbSNP:rs4619320). transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CTAGTCTTCTCATTCAAAACA 0.363000 T PDGFRB AML 13 35 0 0 0.001368 0 0 THOC2 57187 broad.mit.edu 37 X 122866817 122866817 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:122866817G>A ENST00000245838.8 - 1 87 c.56C>T c.(55-57)tCa>tTa p.S19L THOC2_ENST00000355725.4_Missense_Mutation_p.S19L NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 19 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GCCTCTCCCTGATTTCTCCCA 0.632000 OREG0003978|OREG0003979 type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 37 0 0 0.001984 0 0 TRPC1 7220 broad.mit.edu 37 3 142443489 142443489 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:142443489G>A ENST00000273482.6 + 1 479 c.88G>A c.(88-90)Gag>Aag p.E30K TRPC1_ENST00000476941.1_Missense_Mutation_p.E30K NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 30 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 ctcGCCGAACGAGGTGATGGC 0.617000 12 65 0 0 0.010729 0 0 GPSM2 29899 broad.mit.edu 37 1 109461321 109461321 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:109461321G>A ENST00000406462.1 + 13 2123 c.1350G>A c.(1348-1350)ctG>ctA p.L450L GPSM2_ENST00000264126.3_Silent_p.L450L|AKNAD1_ENST00000357393.4_Intron P81274 GPSM2_HUMAN G-protein signaling modulator 2 450 G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3) 14 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) TCAACAGACTGAAGGGGAAAA 0.373000 9 56 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179498729 179498729 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:179498729G>A ENST00000589042.1 - 231 42721 c.42497C>T c.(42496-42498)tCt>tTt p.S14166F TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S5293F|TTN_ENST00000460472.2_Missense_Mutation_p.S5101F|TTN_ENST00000359218.5_Missense_Mutation_p.S5226F|TTN_ENST00000591111.1_Missense_Mutation_p.S12525F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S11598F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12525 Fibronectin type-III 2. 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) TTTTTCATGAGAAAGTTCACA 0.368000 69 156 0 0 0.003610 0 0 OS9 10956 broad.mit.edu 37 12 58112070 58112070 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:58112070G>C ENST00000315970.7 + 11 1317 c.1276G>C c.(1276-1278)Gat>Cat p.D426H RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000439210.2_Missense_Mutation_p.D367H|OS9_ENST00000389146.6_Missense_Mutation_p.D426H|OS9_ENST00000389142.5_Missense_Mutation_p.D426H|OS9_ENST00000551035.1_Missense_Mutation_p.D394H|OS9_ENST00000413095.2_Missense_Mutation_p.D220H|OS9_ENST00000257966.8_Missense_Mutation_p.D427H|OS9_ENST00000435406.2_Missense_Mutation_p.D374H|OS9_ENST00000552285.1_Missense_Mutation_p.D426H NM_001017958.2|NM_006812.3 NP_001017958.1|NP_006803.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin 426 Asp/Glu-rich (acidic). ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) tgaggatgaagatgaggatga 0.542000 6 74 0 0 0.001168 0 0 DCBLD2 131566 broad.mit.edu 37 3 98518364 98518364 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:98518364G>A ENST00000326840.6 - 16 2542 c.2180C>T c.(2179-2181)tCa>tTa p.S727L DCBLD2_ENST00000326857.9_Missense_Mutation_p.S741L NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 727 cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 GGCCTGGGCTGAGGAGCAGCT 0.557000 68 233 0 0 0.003610 0 0 KATNB1 10300 broad.mit.edu 37 16 57786709 57786709 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:57786709G>C ENST00000379661.3 + 10 1116 c.724G>C c.(724-726)Gac>Cac p.D242H NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 242 Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) CTTCAACCCAGACGGCTGCTG 0.657000 4 28 0 0 0.009096 0 0 KPNA1 3836 broad.mit.edu 37 3 122170899 122170899 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:122170899G>C ENST00000344337.6 - 7 753 c.577C>G c.(577-579)Ctt>Gtt p.L193V KPNA1_ENST00000466923.1_5'UTR NM_002264.3 NP_002255.3 P52294 IMA1_HUMAN karyopherin alpha 1 (importin alpha 5) 193 NLS binding site (major) (By similarity). DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) ATGTTGCCAAGAGCCCAGACT 0.398000 42 176 0 0 0.003610 0 0 TNIP3 79931 broad.mit.edu 37 4 122078303 122078303 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:122078303C>T ENST00000454328.1 - 6 536 c.309G>A c.(307-309)caG>caA p.Q103Q TNIP3_ENST00000057513.3_Silent_p.Q103Q|TNIP3_ENST00000507879.1_Silent_p.Q173Q|TNIP3_ENST00000509841.1_Silent_p.Q180Q Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 103 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 CGTCCTCTCTCTGCCTGTCGT 0.642000 111 275 0 0 0.003610 0 0 TAF7L 54457 broad.mit.edu 37 X 100532640 100532640 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chrX:100532640C>G ENST00000372907.3 - 9 914 c.903G>C c.(901-903)ttG>ttC p.L301F TAF7L_ENST00000356784.1_Missense_Mutation_p.L215F|TAF7L_ENST00000372905.2_Missense_Mutation_p.L215F|TAF7L_ENST00000324762.6_Missense_Mutation_p.L215F NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 301 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 CCGAGGATATCAAAAATCCTG 0.468000 20 97 0 0 0.008871 0 0 IL4R 3566 broad.mit.edu 37 16 27375021 27375021 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:27375021C>T ENST00000395762.2 + 11 2607 c.2348C>T c.(2347-2349)tCg>tTg p.S783L IL4R_ENST00000380922.3_Missense_Mutation_p.S768L|IL4R_ENST00000170630.2_Missense_Mutation_p.S783L|IL4R_ENST00000543915.2_Missense_Mutation_p.S783L NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 783 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity p.S783L(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CTGGCACCCTCGGGCATCTCA 0.612000 19 57 0 0 0.010504 0 0 C16orf89 146556 broad.mit.edu 37 16 5112511 5112511 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:5112511G>A ENST00000315997.5 - 2 474 c.273C>T c.(271-273)cgC>cgT p.R91R C16orf89_ENST00000350219.4_Silent_p.R129R|C16orf89_ENST00000422873.1_Silent_p.R129R|C16orf89_ENST00000472572.3_Silent_p.R91R|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_Silent_p.R91R NM_152459.4 NP_689672.4 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 91 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 GCATCCCCACGCGCAGGCTCA 0.572000 22 59 0 0 0.002299 0 0 MRPL47 57129 broad.mit.edu 37 3 179306692 179306692 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:179306692G>C ENST00000476781.1 - 7 750 c.721C>G c.(721-723)Ctt>Gtt p.L241V MRPL47_ENST00000259038.2_Missense_Mutation_p.L221V|MRPL47_ENST00000392659.2_Missense_Mutation_p.L131V NM_020409.2 NP_065142.2 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 241 translation mitochondrial ribosome structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1) 11 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) GCTTCAGCAAGATGTGGAAAC 0.343000 13 165 0 0 0.001855 0 0 CEP250 11190 broad.mit.edu 37 20 34054830 34054830 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:34054830C>T ENST00000397527.1 + 8 1252 c.532C>T c.(532-534)Ctc>Ttc p.L178F CEP250_ENST00000397524.1_Missense_Mutation_p.L178F|CEP250_ENST00000342580.4_Missense_Mutation_p.L178F NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 178 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CGGTCGCCTTCTCAGTCTATG 0.532000 17 45 0 0 0.006122 0 0 DFFB 1677 broad.mit.edu 37 1 3782217 3782217 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:3782217C>T ENST00000378212.2 + 3 575 c.252C>T c.(250-252)gtC>gtT p.V84V DFFB_ENST00000378209.3_Intron|DFFB_ENST00000338895.3_Intron O76075 DFFB_HUMAN DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) 0 apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction cytosol|nucleoplasm deoxyribonuclease activity|enzyme binding endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211) Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) CTGTTGGTGTCAGGGCAAGGA 0.597000 5 20 0 0 0.000602 0 0 AHRR 57491 broad.mit.edu 37 5 434023 434023 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:434023C>T ENST00000316418.5 + 12 1278 c.1234C>T c.(1234-1236)Cgg>Tgg p.R412W AHRR_ENST00000505113.1_Missense_Mutation_p.R394W|AHRR_ENST00000512529.1_Missense_Mutation_p.R240W|AHRR_ENST00000506456.1_Missense_Mutation_p.R250W NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) AGTGACAGGGCGGAGGGAGAC 0.632000 5 37 0 0 0.000602 0 0 ZNF671 79891 broad.mit.edu 37 19 58233748 58233748 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:58233748C>A ENST00000317398.6 - 3 419 c.324G>T c.(322-324)tgG>tgT p.W108C ZNF671_ENST00000596939.1_3'UTR|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.W10C|ZNF671_ENST00000594803.1_5'UTR NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 108 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGTCATACACCCAGGGCTCTT 0.537000 10 209 7.48243e-07 7.84912e-07 0.006214 1 0 TRIP11 9321 broad.mit.edu 37 14 92470322 92470322 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:92470322C>T ENST00000267622.4 - 11 4371 c.3998G>A c.(3997-3999)aGt>aAt p.S1333N NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1333 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTCAGACTTACTTGCTCTAAG 0.383000 T PDGFRB AML 12 59 0 0 0.001368 0 0 RCC2 55920 broad.mit.edu 37 1 17749292 17749292 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:17749292C>G ENST00000375436.4 - 5 751 c.564G>C c.(562-564)aaG>aaC p.K188N RCC2_ENST00000375433.3_Missense_Mutation_p.K188N NM_018715.3 NP_061185.1 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 188 cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4) 17 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) CTTCTACTCTCTTGGTGTCAC 0.557000 21 68 0 0 0.003954 0 0 STAT4 6775 broad.mit.edu 37 2 191895766 191895766 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:191895766G>A ENST00000392320.2 - 23 2466 c.2152C>T c.(2152-2154)Ctt>Ttt p.L718F STAT4_ENST00000358470.4_Missense_Mutation_p.L718F|AC067945.4_ENST00000456176.1_RNA NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 718 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GACATGGGAAGAAGGTCTGAT 0.403000 35 146 0 0 0.007835 0 0 PCDH17 27253 broad.mit.edu 37 13 58208612 58208612 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr13:58208612G>T ENST00000377918.3 + 1 1958 c.1932G>T c.(1930-1932)gaG>gaT p.E644D NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 644 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCAGCGGCGAGATCCGCACGC 0.657000 43 122 2.13384e-23 2.35704e-23 0.003610 1 0 ABCB5 340273 broad.mit.edu 37 7 20739704 20739704 + Silent SNP G G T rs148327292 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:20739704G>T ENST00000404938.2 + 19 2935 c.2283G>T c.(2281-2283)ggG>ggT p.G761G ABCB5_ENST00000258738.6_Silent_p.G316G NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 316 ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GCAGAGCAGGGGAAATTTTAA 0.284000 12 39 0.00244969 0.00251316 0.002450 1 0 NACA 4666 broad.mit.edu 37 12 57110190 57110190 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57110190C>G ENST00000454682.1 - 3 5405 c.5124G>C c.(5122-5124)aaG>aaC p.K1708N NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TAGCAGAACTCTTTTTGGTCT 0.522000 T BCL6 NHL 78 265 0 0 0.003610 0 0 DMRTB1 63948 broad.mit.edu 37 1 53925595 53925595 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:53925595C>T ENST00000371445.3 + 1 524 c.469C>T c.(469-471)Ctt>Ttt p.L157F NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 157 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 GATGCCCAGCCTTGCGGGACC 0.761000 5 9 0 0 0.000602 0 0 TMEM198 130612 broad.mit.edu 37 2 220412742 220412742 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:220412742C>T ENST00000344458.2 + 4 1266 c.681C>T c.(679-681)ctC>ctT p.L227L TMEM198_ENST00000373883.3_Silent_p.L227L Q66K66 TM198_HUMAN transmembrane protein 198 227 Leu-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGCCCCTGCTCAGCCTGATGG 0.667000 3 12 0 0 0.004672 0 0 HTR2A 3356 broad.mit.edu 37 13 47466711 47466711 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr13:47466711G>A ENST00000378688.4 - 2 558 c.427C>T c.(427-429)Ctg>Ttg p.L143L HTR2A_ENST00000542664.1_Silent_p.L143L|HTR2A_ENST00000543956.1_Silent_p.L59L P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 143 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TTGCTCGGCAGAGGCCACCGG 0.572000 20 84 0 0 0.010504 0 0 XKR3 150165 broad.mit.edu 37 22 17288751 17288751 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:17288751G>A ENST00000331428.5 - 2 315 c.213C>T c.(211-213)atC>atT p.I71I NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 71 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TAATAAAGCTGATGGTAAATG 0.358000 16 46 0 0 0.004007 0 0 CCDC34 91057 broad.mit.edu 37 11 27384432 27384432 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:27384432C>G ENST00000317945.6 - 1 349 c.310G>C c.(310-312)Gag>Cag p.E104Q CCDC34_ENST00000328697.6_Missense_Mutation_p.E104Q NM_080654.2 NP_542385.1 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 104 p.E104K(1) endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1) 9 ACTTTGGCCTCTGAATCATGG 0.572000 27 81 0 0 0.007291 0 0 FAM135B 51059 broad.mit.edu 37 8 139164359 139164359 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:139164359C>T ENST00000395297.1 - 13 2529 c.2359G>A c.(2359-2361)Gac>Aac p.D787N NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 787 p.D787Y(2)|p.D787N(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGCTTGGTGTCCGCATCTTCA 0.522000 HNSCC(54;0.14) 8 55 0 0 0.003080 0 0 SVOP 55530 broad.mit.edu 37 12 109306418 109306418 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:109306418C>A ENST00000299134.5 - 14 1343 c.1344G>T c.(1342-1344)aaG>aaT p.K448N NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 AGTCCTCGGCCTTTGGTCTCA 0.607000 44 79 6.4771e-29 7.17463e-29 0.010771 1 0 USF2 7392 broad.mit.edu 37 19 35761375 35761375 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:35761375A>G ENST00000222305.3 + 5 492 c.455A>G c.(454-456)aAt>aGt p.N152S USF2_ENST00000595068.1_Missense_Mutation_p.N152S|USF2_ENST00000343550.5_Missense_Mutation_p.N85S|USF2_ENST00000594064.1_Missense_Mutation_p.N150S|USF2_ENST00000379134.3_Intron NM_003367.2 NP_003358.1 Q15853 USF2_HUMAN upstream transcription factor 2, c-fos interacting 152 lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1) 13 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCCTTCAGCAATGGTGGCAGT 0.592000 23 53 0 0 0.003954 0 0 OSBPL9 114883 broad.mit.edu 37 1 52246990 52246990 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:52246990G>A ENST00000371710.3 + 16 1647 c.1465G>A c.(1465-1467)Gat>Aat p.D489N OSBPL9_ENST00000337809.4_Missense_Mutation_p.D476N|OSBPL9_ENST00000486942.1_Missense_Mutation_p.D293N|OSBPL9_ENST00000531828.1_Missense_Mutation_p.D306N|OSBPL9_ENST00000530544.1_Missense_Mutation_p.D390N|OSBPL9_ENST00000462759.1_Missense_Mutation_p.D293N|OSBPL9_ENST00000447887.1_Missense_Mutation_p.D481N|OSBPL9_ENST00000453295.1_Missense_Mutation_p.D454N|OSBPL9_ENST00000361556.5_Missense_Mutation_p.D361N|OSBPL9_ENST00000435686.2_Missense_Mutation_p.D306N|OSBPL9_ENST00000428468.1_Missense_Mutation_p.D471N|OSBPL9_ENST00000371714.1_Missense_Mutation_p.D458N NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 471 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 ATTACCAAATGATACTGAAGA 0.358000 12 22 0 0 0.001855 0 0 ELMO3 79767 broad.mit.edu 37 16 67237075 67237075 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:67237075G>C ENST00000393997.2 + 17 1945 c.1888G>C c.(1888-1890)Gac>Cac p.D630H ELMO3_ENST00000360833.1_Missense_Mutation_p.D613H|ELMO3_ENST00000477898.1_Missense_Mutation_p.D464H NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 577 PH. apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding p.D630N(1) cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GCAGTACGGAGACATGGAGGA 0.647000 10 26 0 0 0.008291 0 0 MAP1LC3C 440738 broad.mit.edu 37 1 242162283 242162283 + Missense_Mutation SNP C C T rs141733716 by1000genomes TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:242162283C>T ENST00000357246.3 - 1 92 c.28G>A c.(28-30)Gtc>Atc p.V10I NM_001004343.2 NP_001004343.1 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 gamma 10 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(106;0.0188) AAGGGTCTGACGCTTGGGATT 0.458000 OREG0014354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 61 0 0 0.010504 0 0 UACA 55075 broad.mit.edu 37 15 70959538 70959538 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:70959538G>C ENST00000322954.6 - 16 3670 c.3485C>G c.(3484-3486)tCt>tGt p.S1162C UACA_ENST00000539319.1_Missense_Mutation_p.S1053C|UACA_ENST00000560441.1_Missense_Mutation_p.S1147C|UACA_ENST00000379983.2_Missense_Mutation_p.S1149C NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 1162 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 GGGTACAGAAGAGTTCTTTTG 0.398000 64 134 0 0 0.003610 0 0 LSM14B 149986 broad.mit.edu 37 20 60706468 60706468 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:60706468G>A ENST00000253001.4 + 7 1098 c.892G>A c.(892-894)Gaa>Aaa p.E298K LSM14B_ENST00000279068.6_Missense_Mutation_p.E298K Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 298 multicellular organismal development|regulation of translation ribonucleoprotein complex endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CCAGAGTGCCGAAGCGCCCGC 0.537000 7 27 0 0 0.003080 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884017 24884017 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr14:24884017C>G ENST00000382554.3 + 9 3380 c.3062C>G c.(3061-3063)tCt>tGt p.S1021C NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1021 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GACCTTGACTCTTCGCTGGCG 0.607000 22 35 0 0 0.002299 0 0 MALAT1 378938 broad.mit.edu 37 11 65272416 65272416 + RNA SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65272416C>G ENST00000534336.1 + 0 7184 NR_002819.2 ACCACTAGTTCTTTCAGATGG 0.378000 3 17 0 0 0.009096 0 0 CHRNA3 1136 broad.mit.edu 37 15 78894511 78894511 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:78894511G>T ENST00000326828.5 - 5 857 c.473C>A c.(472-474)tCc>tAc p.S158Y CHRNA3_ENST00000348639.3_Missense_Mutation_p.S158Y NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 158 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GATTTTACAGGAGCTCTTAAA 0.493000 6 93 3.59834e-05 3.73021e-05 0.001168 1 0 FCRL4 83417 broad.mit.edu 37 1 157556066 157556066 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:157556066C>G ENST00000271532.1 - 6 1162 c.1027G>C c.(1027-1029)Gag>Cag p.E343Q FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 343 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) AGCTCCAGCTCTGCTCTCAGG 0.582000 24 70 0 0 0.002299 0 0 RNF145 153830 broad.mit.edu 37 5 158585719 158585719 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:158585719G>A ENST00000424310.2 - 11 2310 c.1951C>T c.(1951-1953)Cac>Tac p.H651Y RNF145_ENST00000519865.1_Missense_Mutation_p.H651Y|RNF145_ENST00000520638.1_Missense_Mutation_p.H665Y|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000274542.2_Missense_Mutation_p.H679Y|RNF145_ENST00000518802.1_Missense_Mutation_p.H681Y|RNF145_ENST00000521606.2_Missense_Mutation_p.H668Y NM_001199383.1 NP_001186312.1 Q96MT1 RN145_HUMAN ring finger protein 145 651 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCGCACTGTGAGGATATTCT 0.473000 34 159 0 0 0.003271 0 0 OR8S1 341568 broad.mit.edu 37 12 48920205 48920205 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:48920205C>T ENST00000310194.1 + 1 791 c.791C>T c.(790-792)tCa>tTa p.S264L OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 ATGCCAAACTCAGGTTCCCCC 0.498000 24 72 0 0 0.003330 0 0 VPS13B 157680 broad.mit.edu 37 8 100866028 100866028 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:100866028G>A ENST00000358544.2 + 56 10597 c.10486G>A c.(10486-10488)Gaa>Aaa p.E3496K VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E3471K NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3496 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGAGTTGGAAGAATACAAGGA 0.383000 23 63 0 0 0.012319 0 0 ESRRA 2101 broad.mit.edu 37 11 64082296 64082296 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:64082296G>A ENST00000405666.1 + 5 889 c.655G>A c.(655-657)Gat>Aat p.D219N ESRRA_ENST00000406310.1_Missense_Mutation_p.D218N|ESRRA_ENST00000000442.6_Missense_Mutation_p.D219N P11474 ERR1_HUMAN estrogen-related receptor alpha 219 Ligand binding domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(8) 14 CGCAGGCCCTGATGGGCACCT 0.587000 17 50 0 0 0.004990 0 0 AC010547.9 0 broad.mit.edu 37 16 71512138 71512138 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:71512138G>A ENST00000561908.1 - 5 769 c.267C>T c.(265-267)gtC>gtT p.V89V ZNF19_ENST00000565100.2_Silent_p.V19V|ZNF19_ENST00000288177.5_Silent_p.V89V|ZNF19_ENST00000567225.1_Silent_p.V89V|ZNF19_ENST00000565637.1_Silent_p.V47V|ZNF19_ENST00000564230.1_Silent_p.V89V TACCTTTACAGACGTTTTTGG 0.448000 8 34 0 0 0.004482 0 0 GRIA2 2891 broad.mit.edu 37 4 158224904 158224904 + Missense_Mutation SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:158224904C>A ENST00000296526.7 + 3 755 c.430C>A c.(430-432)Caa>Aaa p.Q144K GRIA2_ENST00000507898.1_Missense_Mutation_p.Q97K|GRIA2_ENST00000264426.9_Missense_Mutation_p.Q144K|GRIA2_ENST00000393815.2_Missense_Mutation_p.Q97K|GRIA2_ENST00000449365.1_Missense_Mutation_p.Q97K NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 144 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TGAATACTATCAATGGGACAA 0.443000 33 106 1.08312e-15 1.17996e-15 0.009535 1 0 C16orf72 29035 broad.mit.edu 37 16 9210763 9210763 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:9210763G>A ENST00000327827.7 + 4 1219 c.822G>A c.(820-822)atG>atA p.M274I NM_014117.2 NP_054836.2 Q14CZ0 CP072_HUMAN chromosome 16 open reading frame 72 274 endometrium(4)|large_intestine(2)|lung(2) 8 GCAACAGAATGATCTAAACTG 0.448000 14 90 0 0 0.003163 0 0 NFATC2 4773 broad.mit.edu 37 20 50140540 50140540 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr20:50140540G>A ENST00000371564.3 - 2 459 c.240C>T c.(238-240)ggC>ggT p.G80G NFATC2_ENST00000414705.1_Silent_p.G60G|NFATC2_ENST00000396009.3_Silent_p.G80G NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 80 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CGGGGGGCTCGCCAGAGAGAC 0.657000 22 75 0 0 0.012319 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125879726 125879726 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:125879726G>C ENST00000393434.2 - 2 446 c.97C>G c.(97-99)Cca>Gca p.P33A ALDH1L1_ENST00000273450.3_Missense_Mutation_p.P43A|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.P33A|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.P33A|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.P33A NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 33 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TCCTTGTCTGGAACAGTGAAC 0.572000 15 117 0 0 0.003163 0 0 PARD3B 117583 broad.mit.edu 37 2 206166459 206166459 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:206166459C>T ENST00000462231.1 + 18 2824 c.2664C>T c.(2662-2664)ctC>ctT p.L888L PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000406610.2_Intron|PARD3B_ENST00000351153.1_Intron Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 0 Lys-rich. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) AGTTGGTTCTCATTTTGTCTC 0.458000 15 40 0 0 0.004007 0 0 TUBA8 51807 broad.mit.edu 37 22 18604405 18604405 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:18604405G>A ENST00000330423.3 + 2 236 c.163G>A c.(163-165)Gag>Aag p.E55K TUBA8_ENST00000316027.6_5'UTR NM_018943.2 NP_061816.1 Q9NY65 TBA8_HUMAN tubulin, alpha 8 55 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 CTTTTTCAGCGAGACTGGCAA 0.557000 9 56 0 0 0.004482 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959218 45959218 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:45959218G>A ENST00000400375.1 - 1 860 c.816C>T c.(814-816)ctC>ctT p.L272L TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 272 keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 CGGGGCGGCAGAGGAGGGACA 0.726000 12 22 0 0 0.010729 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555807 155555807 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:155555807G>A ENST00000295101.2 + 1 997 c.520G>A c.(520-522)Gcc>Acc p.A174T KCNJ3_ENST00000544049.1_Missense_Mutation_p.A174T NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 174 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CATCGTGGACGCCTTCCTCAT 0.597000 13 49 0 0 0.001855 0 0 PPP6R2 9701 broad.mit.edu 37 22 50845240 50845240 + Missense_Mutation SNP A A G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr22:50845240A>G ENST00000359139.3 + 4 744 c.350A>G c.(349-351)aAt>aGt p.N117S PPP6R2_ENST00000395744.3_Missense_Mutation_p.N117S|PPP6R2_ENST00000216061.5_Missense_Mutation_p.N117S|PPP6R2_ENST00000395741.3_Missense_Mutation_p.N117S NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 117 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CCGCCTCTCAATCCTCTGCTC 0.547000 88 257 0 0 0.003610 0 0 MAMDC4 158056 broad.mit.edu 37 9 139749723 139749723 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:139749723G>A ENST00000445819.1 + 11 1265 c.1215G>A c.(1213-1215)caG>caA p.Q405Q MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.Q405Q Q6UXC1 AEGP_HUMAN MAM domain containing 4 405 MAM 2. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TGGCCGGGCAGACAGGCCCGG 0.672000 21 22 0 0 0.012319 0 0 MYLIP 29116 broad.mit.edu 37 6 16141928 16141928 + Silent SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:16141928G>T ENST00000356840.3 + 3 549 c.351G>T c.(349-351)gtG>gtT p.V117V MYLIP_ENST00000349606.4_5'UTR NM_013262.3 NP_037394.2 Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting protein 117 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) AGCAGGCAGTGGAACTCAGTG 0.527000 9 70 3.09899e-07 3.25949e-07 0.004482 1 0 UHMK1 127933 broad.mit.edu 37 1 162470803 162470803 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr1:162470803C>T ENST00000489294.1 + 3 820 c.662C>T c.(661-663)tCa>tTa p.S221L UHMK1_ENST00000545294.1_Missense_Mutation_p.S147L|UHMK1_ENST00000538489.1_Missense_Mutation_p.S221L|UHMK1_ENST00000282169.8_3'UTR NM_175866.4 NP_787062.1 Q8TAS1 UHMK1_HUMAN U2AF homology motif (UHM) kinase 1 221 Protein kinase. cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 11 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) GAATGTACCTCAGCTGTTGAT 0.443000 6 39 0 0 0.001984 0 0 FAM135B 51059 broad.mit.edu 37 8 139164976 139164976 + Missense_Mutation SNP G G C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:139164976G>C ENST00000395297.1 - 13 1912 c.1742C>G c.(1741-1743)tCt>tGt p.S581C NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 581 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTTATCTCTAGAGCTCCTACT 0.478000 HNSCC(54;0.14) 34 95 0 0 0.002836 0 0 BLOC1S3 388552 broad.mit.edu 37 19 45683082 45683082 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:45683082C>G ENST00000433642.2 + 2 624 c.528C>G c.(526-528)atC>atG p.I176M AC005779.2_ENST00000593083.1_Missense_Mutation_p.I1M|BLOC1S3_ENST00000587722.1_Missense_Mutation_p.I176M NM_212550.3 NP_997715.1 Q6QNY0 BL1S3_HUMAN biogenesis of lysosomal organelles complex-1, subunit 3 176 cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport BLOC-1 complex identical protein binding ovary(1)|skin(1) 2 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) GTCTGGACATCGTGGCTGGCT 0.726000 Hermansky-Pudlak syndrome 9 22 0 0 0.004482 0 0 GREB1 9687 broad.mit.edu 37 2 11774361 11774361 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr2:11774361G>T ENST00000381486.2 + 29 5396 c.5096G>T c.(5095-5097)tGg>tTg p.W1699L GREB1_ENST00000396123.1_Missense_Mutation_p.W697L|GREB1_ENST00000234142.5_Missense_Mutation_p.W1699L NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1699 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CTGCGGAAGTGGTCCAGCAAG 0.607000 16 64 6.31663e-08 6.67036e-08 0.003163 1 0 GPR98 84059 broad.mit.edu 37 5 90074289 90074289 + Nonsense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr5:90074289C>T ENST00000405460.2 + 63 12808 c.12712C>T c.(12712-12714)Cag>Tag p.Q4238* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4238 Calx-beta 28. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTATGAGTTTCAGCTCACTGC 0.468000 7 20 0 0 0.001984 0 0 TIAM1 7074 broad.mit.edu 37 21 32493057 32493057 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr21:32493057T>C ENST00000286827.3 - 29 4876 c.4405A>G c.(4405-4407)Aaa>Gaa p.K1469E TIAM1_ENST00000541036.1_Missense_Mutation_p.K1409E NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1469 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TGGGACTCTTTCTCCGGGCTG 0.577000 3 58 0 0 0.004672 0 0 THAP1 55145 broad.mit.edu 37 8 42693174 42693174 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr8:42693174G>A ENST00000254250.3 - 3 803 c.573C>T c.(571-573)gaC>gaT p.D191D THAP1_ENST00000345117.2_3'UTR NM_018105.2 NP_060575.1 Q9NVV9 THAP1_HUMAN THAP domain containing, apoptosis associated protein 1 191 cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body sequence-specific DNA binding|zinc ion binding NS(1)|lung(4)|prostate(1)|skin(1) 7 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869) CTGATACGTCGTCTTTCTCTT 0.388000 24 87 0 0 0.003330 0 0 DNAH1 25981 broad.mit.edu 37 3 52382931 52382931 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:52382931G>A ENST00000420323.2 + 13 2395 c.2134G>A c.(2134-2136)Ggt>Agt p.G712S NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 712 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTTCATCAGCGGTGACCCCCT 0.617000 6 78 0 0 0.001984 0 0 PTPRD 5789 broad.mit.edu 37 9 8524994 8524994 + Missense_Mutation SNP T T C TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:8524994T>C ENST00000381196.4 - 15 1153 c.610A>G c.(610-612)Aaa>Gaa p.K204E PTPRD_ENST00000486161.1_Missense_Mutation_p.K204E|PTPRD_ENST00000356435.5_Missense_Mutation_p.K204E|PTPRD_ENST00000355233.5_Missense_Mutation_p.K204E|PTPRD_ENST00000397606.3_Missense_Mutation_p.K198E|PTPRD_ENST00000397611.3_Missense_Mutation_p.K201E|PTPRD_ENST00000397617.3_Missense_Mutation_p.K198E|PTPRD_ENST00000540109.1_Missense_Mutation_p.K204E|PTPRD_ENST00000360074.4_Missense_Mutation_p.K195E|PTPRD_ENST00000537002.1_Missense_Mutation_p.K201E|PTPRD_ENST00000358503.5_Missense_Mutation_p.K195E NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 204 Ig-like C2-type 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CACTCATATTTTCCTTGGTCA 0.458000 TSP Lung(15;0.13) 49 135 0 0 0.003610 0 0 MALAT1 378938 broad.mit.edu 37 11 65272480 65272480 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65272480G>A ENST00000534336.1 + 0 7248 NR_002819.2 TGGACAAAATGAGGAAAACAG 0.368000 10 26 0 0 0.008291 0 0 PLCH1 23007 broad.mit.edu 37 3 155200497 155200497 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr3:155200497C>T ENST00000460012.1 - 23 3585 c.3228G>A c.(3226-3228)gaG>gaA p.E1076E PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Silent_p.E1114E|PLCH1_ENST00000334686.6_Silent_p.E1076E|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Silent_p.E1076E Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1114 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCACAAAGTCCTCAGGATTAC 0.478000 28 112 0 0 0.004656 0 0 MALAT1 378938 broad.mit.edu 37 11 65272556 65272556 + RNA SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:65272556G>A ENST00000534336.1 + 0 7324 NR_002819.2 GTATTGAATAGATTTCAGCTT 0.413000 17 45 0 0 0.004990 0 0 PPP1R18 170954 broad.mit.edu 37 6 30647097 30647097 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:30647097C>G ENST00000274853.3 - 2 3557 c.1681G>C c.(1681-1683)Gag>Cag p.E561Q PPP1R18_ENST00000488324.1_5'UTR|PPP1R18_ENST00000399199.3_Missense_Mutation_p.E561Q NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 561 cytoplasm|cytoskeleton actin binding CCCAGCTCCTCCAGTACCGAA 0.627000 24 46 0 0 0.003954 0 0 ZNF76 7629 broad.mit.edu 37 6 35260660 35260660 + Missense_Mutation SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:35260660G>T ENST00000373953.3 + 11 1434 c.1168G>T c.(1168-1170)Gcc>Tcc p.A390S ZNF76_ENST00000339411.5_Missense_Mutation_p.A390S|ZNF76_ENST00000440666.2_Missense_Mutation_p.A364S NM_003427.3 NP_003418.2 P36508 ZNF76_HUMAN zinc finger protein 76 390 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 TCTCCCAGCCGCCTCTGCAGC 0.617000 9 88 2.74318e-10 2.93594e-10 0.006214 1 0 KIAA1549 57670 broad.mit.edu 37 7 138603406 138603406 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:138603406G>A ENST00000440172.1 - 2 1014 c.966C>T c.(964-966)taC>taT p.Y322Y KIAA1549_ENST00000242365.4_Silent_p.Y272Y|KIAA1549_ENST00000422774.1_Silent_p.Y322Y NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 322 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TCACATCAGTGTATCTGTCTG 0.542000 O BRAF pilocytic astrocytoma 36 48 0 0 0.003755 0 0 TAOK2 9344 broad.mit.edu 37 16 29994909 29994909 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr16:29994909C>T ENST00000308893.4 + 13 2389 c.1346C>T c.(1345-1347)tCc>tTc p.S449F TAOK2_ENST00000279394.3_Missense_Mutation_p.S449F|TAOK2_ENST00000416441.2_Missense_Mutation_p.S276F|TAOK2_ENST00000543033.1_Missense_Mutation_p.S449F NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 449 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GCTCCCACTTCCACCACCTCT 0.622000 9 466 0 0 0.004482 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49967126 49967126 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:49967126G>A ENST00000293350.4 + 9 1277 c.1114G>A c.(1114-1116)Gat>Aat p.D372N ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D321N|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.D207N|CTD-3148I10.9_ENST00000599536.1_Silent_p.*7*|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.D209N NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 372 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CCAGGCTGGTGATGTGCCTTC 0.602000 49 221 0 0 0.003610 0 0 PRDM11 56981 broad.mit.edu 37 11 45241256 45241256 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:45241256G>A ENST00000263765.4 + 7 1041 c.792G>A c.(790-792)atG>atA p.M264I PRDM11_ENST00000424263.2_Missense_Mutation_p.M230I|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000530656.1_Missense_Mutation_p.M264I Q9NQV5 PRD11_HUMAN PR domain containing 11 264 SET. endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 AGGACTACATGAAGCGCCTGC 0.637000 13 31 0 0 0.001368 0 0 C12orf57 113246 broad.mit.edu 37 12 7054986 7054986 + Silent SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:7054986G>A ENST00000537087.1 + 3 483 c.195G>A c.(193-195)gaG>gaA p.E65E C12orf57_ENST00000540506.2_Silent_p.E59E|C12orf57_ENST00000229281.5_Silent_p.E94E|C12orf57_ENST00000542222.1_3'UTR Q99622 C10_HUMAN chromosome 12 open reading frame 57 94 kidney(1)|large_intestine(1) 2 AGGATCCTGAGATCGCCAGCC 0.617000 8 26 0 0 0.003080 0 0 NACA 4666 broad.mit.edu 37 12 57108149 57108149 + Silent SNP C C A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57108149C>A ENST00000454682.1 - 5 6101 c.5820G>T c.(5818-5820)cgG>cgT p.R1940R NACA_ENST00000551793.1_5'UTR|NACA_ENST00000393891.4_Silent_p.R77R|NACA_ENST00000550952.1_Silent_p.R787R|NACA_ENST00000552540.1_Silent_p.R77R|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000546392.1_Silent_p.R77R|NACA_ENST00000356769.3_Silent_p.R77R NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 77 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 ATCTTACCTTCCGTGCCTTCT 0.398000 T BCL6 NHL 10 47 4.68919e-08 4.96502e-08 0.008291 1 0 ABCA2 20 broad.mit.edu 37 9 139910547 139910547 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr9:139910547C>T ENST00000265662.5 - 22 3331 c.3184G>A c.(3184-3186)Gag>Aag p.E1062K ABCA2_ENST00000371605.3_Missense_Mutation_p.E1061K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E1062K Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1061 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TTGCGGATCTCATCCATCTCC 0.612000 31 63 0 0 0.003271 0 0 SLTM 79811 broad.mit.edu 37 15 59181735 59181735 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr15:59181735C>T ENST00000380516.2 - 16 2185 c.2098G>A c.(2098-2100)Gaa>Aaa p.E700K SLTM_ENST00000536328.1_Missense_Mutation_p.E269K NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 700 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCAATCCGTTCAGCTTCCTTA 0.408000 14 23 0 0 0.001855 0 0 NACA 4666 broad.mit.edu 37 12 57112459 57112459 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr12:57112459C>T ENST00000454682.1 - 3 3136 c.2855G>A c.(2854-2856)gGa>gAa p.G952E NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 AGCTGGGCCTCCTTTAGGGGA 0.642000 T BCL6 NHL 18 53 0 0 0.006122 0 0 LOC494141 494141 broad.mit.edu 37 11 18231217 18231217 + Translation_Start_Site SNP G G T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:18231217G>T ENST00000527059.1 + 1 463 c.3G>T c.(1-3)atG>atT p.M1I RP11-113D6.10_ENST00000340135.3_Start_Codon_SNP_p.M1I|RP11-113D6.10_ENST00000534640.1_Start_Codon_SNP_p.M1I AGTCCTTCATGAAAAAAGAAG 0.333000 9 16 1.12685e-05 1.17121e-05 0.004482 1 0 ENAM 10117 broad.mit.edu 37 4 71508386 71508409 + In_Frame_Del DEL ACTACTGTTGCCCCACTGGGTCCC ACTACTGTTGCCCCACTGGGTCCC - rs111931241 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr4:71508386_71508409delACTACTGTTGCCCCACTGGGTCCC ENST00000396073.3 + 9 1524_1547 c.1243_1266delACTACTGTTGCCCCACTGGGTCCC c.(1243-1266)del p.TTVAPLGP415del ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 415 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CCCTGTAGGAACTACTGTTGCCCCACTGGGTCCCAAACCTGGCC 0.451 9 94 --- --- --- --- SLC39A7 7922 broad.mit.edu 37 6 33169037 33169037 + Frame_Shift_Del DEL G G - TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:33169037delG ENST00000374677.3 + 1 388 c.15delG c.(13-15)ctfs p.L5fs SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.L5fs NM_006979.2 NP_008910.2 Q92504 S39A7_HUMAN solute carrier family 39 (zinc transporter), member 7 5 endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity p.A7fs*10(1) NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 CCAGAGGCCTGGGGGCCCCCC 0.637 8 156 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34839418 34839419 + Frame_Shift_Ins INS - - T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr6:34839418_34839419insT ENST00000192788.5 + 19 4210_4211 c.4039_4040insT c.(4039-4041)ggafs p.G1347fs UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.G1347fs NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 1347 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CACTCTGGCCATGGAACATGTT 0.525 21 38 --- --- --- --- ZNF107 51427 broad.mit.edu 37 7 64168926 64168927 + Frame_Shift_Ins INS - - A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr7:64168926_64168927insA ENST00000395391.1 + 4 3619_3620 c.2244_2245insA c.(2242-2247)taaatgfs p.M749fs ZNF107_ENST00000423627.1_Frame_Shift_Ins_p.M749fs|ZNF107_ENST00000344930.3_Frame_Shift_Ins_p.M749fs Q9UII5 ZN107_HUMAN zinc finger protein 107 749 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) AGAAACCCTACAAATGTGGAGA 0.361 13 19 --- --- --- --- OR4A47 403253 broad.mit.edu 37 11 48510865 48510866 + Frame_Shift_Ins INS - - T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr11:48510865_48510866insT ENST00000446524.1 + 1 597_598 c.521_522insT c.(520-522)cttfs p.L174fs NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 GTCATTGATCATTTTTTCTGTG 0.465 11 172 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 6 6 --- --- --- --- ZNF750 79755 broad.mit.edu 37 17 80790179 80790179 + Frame_Shift_Del DEL T T - TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr17:80790179delT ENST00000269394.3 - 2 985 c.152delA c.(151-153)acfs p.N51fs TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 51 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGTAATCGAGTTTTTACAAAG 0.433 46 50 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1221270 1221270 + Frame_Shift_Del DEL G G - TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ecfc9472-89ce-448e-88a2-a55357fc481f g.chr19:1221270delG ENST00000326873.7 + 6 1966 c.793delG c.(793-795)agfs p.E265fs NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 265 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.Y246fs*3(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGTTGTTTGAGAACATCGG 0.597 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 5 8 --- --- --- --- ENAM 10117 broad.mit.edu 37 4 71508386 71508409 + In_Frame_Del DEL ACTACTGTTGCCCCACTGGGTCCC ACTACTGTTGCCCCACTGGGTCCC - rs111931241 TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr4:71508386_71508409delACTACTGTTGCCCCACTGGGTCCC ENST00000396073.3 + 9 1524_1547 c.1243_1266delACTACTGTTGCCCCACTGGGTCCC c.(1243-1266)del p.TTVAPLGP415del ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 415 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CCCTGTAGGAACTACTGTTGCCCCACTGGGTCCCAAACCTGGCC 0.451 9 94 --- --- --- --- SLC39A7 7922 broad.mit.edu 37 6 33169037 33169037 + Frame_Shift_Del DEL G G - TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:33169037delG ENST00000374677.3 + 1 388 c.15delG c.(13-15)ctfs p.L5fs SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.L5fs NM_006979.2 NP_008910.2 Q92504 S39A7_HUMAN solute carrier family 39 (zinc transporter), member 7 5 endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity p.A7fs*10(1) NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 CCAGAGGCCTGGGGGCCCCCC 0.637 8 156 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34839418 34839419 + Frame_Shift_Ins INS - - T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr6:34839418_34839419insT ENST00000192788.5 + 19 4210_4211 c.4039_4040insT c.(4039-4041)ggafs p.G1347fs UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.G1347fs NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 1347 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CACTCTGGCCATGGAACATGTT 0.525 21 38 --- --- --- --- ZNF107 51427 broad.mit.edu 37 7 64168926 64168927 + Frame_Shift_Ins INS - - A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr7:64168926_64168927insA ENST00000395391.1 + 4 3619_3620 c.2244_2245insA c.(2242-2247)taaatgfs p.M749fs ZNF107_ENST00000423627.1_Frame_Shift_Ins_p.M749fs|ZNF107_ENST00000344930.3_Frame_Shift_Ins_p.M749fs Q9UII5 ZN107_HUMAN zinc finger protein 107 749 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) AGAAACCCTACAAATGTGGAGA 0.361 13 19 --- --- --- --- OR4A47 403253 broad.mit.edu 37 11 48510865 48510866 + Frame_Shift_Ins INS - - T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr11:48510865_48510866insT ENST00000446524.1 + 1 597_598 c.521_522insT c.(520-522)cttfs p.L174fs NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 GTCATTGATCATTTTTTCTGTG 0.465 11 172 --- --- --- --- ZNF750 79755 broad.mit.edu 37 17 80790179 80790179 + Frame_Shift_Del DEL T T - TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr17:80790179delT ENST00000269394.3 - 2 985 c.152delA c.(151-153)acfs p.N51fs TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 51 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGTAATCGAGTTTTTACAAAG 0.433 46 50 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1221270 1221270 + Frame_Shift_Del DEL G G - TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92d3315c-179c-47f6-b61e-9945f6988e1c ea8183de-8f9b-4d30-a23b-c6ffc183f22b g.chr19:1221270delG ENST00000326873.7 + 6 1966 c.793delG c.(793-795)agfs p.E265fs NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 265 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.Y246fs*3(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGTTGTTTGAGAACATCGG 0.597 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 5 8 --- --- --- ---