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 OR2M5 127059 broad.mit.edu 37 1 248308668 248308668 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:248308668C>T ENST00000366476.1 + 1 219 c.219C>T c.(217-219)ctC>ctT p.L73L NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ACCTCATGCTCATCTGCTCTA 0.493000 51 428 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56947234 56947234 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:56947234G>C ENST00000438926.2 + 26 3039 c.3010G>C c.(3010-3012)Gag>Cag p.E1004Q SLC12A3_ENST00000262502.5_Missense_Mutation_p.E994Q|SLC12A3_ENST00000566786.1_Missense_Mutation_p.E1003Q|SLC12A3_ENST00000563236.1_Missense_Mutation_p.E995Q|SLC12A3_ENST00000563352.1_3'UTR NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 995 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GGCCTGGCTGGAGACCCTGTC 0.547000 17 92 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120829139 120829139 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:120829139G>C ENST00000369144.3 - 6 896 c.769C>G c.(769-771)Cac>Gac p.H257D EIF3A_ENST00000541549.1_Missense_Mutation_p.H223D NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 257 formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) AATAGCCCGTGAATATCTTCC 0.323000 15 82 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 6 50 0 0 1 0 0 ALPI 248 broad.mit.edu 37 2 233322988 233322988 + Silent SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:233322988C>G ENST00000295463.3 + 9 1130 c.1053C>G c.(1051-1053)gtC>gtG p.V351V NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 351 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) CTGAGGCGGTCATGTTCGACG 0.627000 13 62 0 0 1 0 0 WRAP53 55135 broad.mit.edu 37 17 7592309 7592309 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:7592309G>A ENST00000316024.5 + 1 2691 c.343G>A c.(343-345)Gaa>Aaa p.E115K WRAP53_ENST00000396463.2_Missense_Mutation_p.E115K|WRAP53_ENST00000431639.2_Missense_Mutation_p.E115K|WRAP53_ENST00000457584.2_Missense_Mutation_p.E115K|WRAP53_ENST00000534050.1_Missense_Mutation_p.E115K Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 115 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 GAGCCTTTCTGAAGAAGAAGC 0.517000 24 98 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24487870 24487870 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr5:24487870C>G ENST00000264463.4 - 12 2776 c.2269G>C c.(2269-2271)Gaa>Caa p.E757Q CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 757 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) TGGTCTCCTTCAGTAGTACCT 0.468000 HNSCC(23;0.051) 29 136 0 0 1 0 0 TTYH2 94015 broad.mit.edu 37 17 72249219 72249219 + Splice_Site SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:72249219G>C ENST00000441391.2 + 6 1508 c.e6-1 TTYH2_ENST00000529107.1_Splice_Site|TTYH2_ENST00000269346.4_Splice_Site NM_052869.1 NP_443101.1 Q9BSA4 TTYH2_HUMAN tweety family member 2 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 CATTGTTCTAGAAACAGAGAC 0.572000 32 157 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71495237 71495237 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:71495237G>A ENST00000396073.3 + 2 301 c.20G>A c.(19-21)aGg>aAg p.R7K NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 7 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) CTTCGGTGCAGGCTTGGAACC 0.323000 22 144 0 0 1 0 0 RBBP5 5929 broad.mit.edu 37 1 205070813 205070813 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:205070813G>C ENST00000264515.6 - 6 688 c.547C>G c.(547-549)Cag>Gag p.Q183E RBBP5_ENST00000367164.1_Missense_Mutation_p.Q183E NM_001193273.1|NM_005057.3 NP_001180202.1|NP_005048.2 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 183 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) ACAAGATCCTGAGAATCTGTT 0.388000 18 151 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46659939 46659939 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr6:46659939G>C ENST00000544460.1 + 1 4328 c.4074G>C c.(4072-4074)atG>atC p.M1358I TDRD6_ENST00000316081.6_Missense_Mutation_p.M1358I NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1358 Tudor 6. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GAGGAGATATGATATGTGCTG 0.383000 25 187 0 0 1 0 0 TXNDC16 57544 broad.mit.edu 37 14 53004342 53004342 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr14:53004342C>G ENST00000281741.4 - 5 663 c.292G>C c.(292-294)Gat>Cat p.D98H TXNDC16_ENST00000554399.1_Intron NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 98 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) TTCATCAAATCCTTTTCTTTT 0.279000 4 7 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63221511 63221511 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:63221511C>T ENST00000449996.3 + 18 1862 c.1790C>T c.(1789-1791)tCa>tTa p.S597L RGS9_ENST00000443584.3_Missense_Mutation_p.S597L|RGS9_ENST00000262406.9_Missense_Mutation_p.S600L NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 600 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 GCCAGGCTCTCACCCAAGTGC 0.627000 33 147 0 0 1 0 0 GP6 51206 broad.mit.edu 37 19 55525794 55525794 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:55525794G>C ENST00000310373.3 - 8 1546 c.1519C>G c.(1519-1521)Ctc>Gtc p.L507V GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_3'UTR NM_001083899.1 NP_001077368 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 0 enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) CCCGTTCTGAGAGACGAAAGG 0.488000 19 109 0 0 1 0 0 SLC38A9 153129 broad.mit.edu 37 5 54965611 54965611 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr5:54965611C>T ENST00000539768.1 - 3 342 c.343G>A c.(343-345)Ggt>Agt p.G115S SLC38A9_ENST00000512595.1_Missense_Mutation_p.G88S|SLC38A9_ENST00000416547.2_5'UTR|SLC38A9_ENST00000396865.2_Missense_Mutation_p.G115S|SLC38A9_ENST00000318672.3_Missense_Mutation_p.G115S|SLC38A9_ENST00000515629.1_Missense_Mutation_p.G52S Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 115 amino acid transport|sodium ion transport integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) GTGTTTTTACCGTATCCTTCA 0.383000 11 29 0 0 1 0 0 CIAPIN1 57019 broad.mit.edu 37 16 57470628 57470628 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:57470628C>T ENST00000394391.4 - 4 568 c.327G>A c.(325-327)gtG>gtA p.V109V CIAPIN1_ENST00000569979.1_Silent_p.V109V|CIAPIN1_ENST00000568940.1_Silent_p.V109V|CIAPIN1_ENST00000569370.1_Silent_p.V109V|CIAPIN1_ENST00000567518.1_Silent_p.V96V|CIAPIN1_ENST00000565961.1_Intron|CIAPIN1_ENST00000569246.1_5'UTR NM_020313.2 NP_064709.2 Q6FI81 CPIN1_HUMAN cytokine induced apoptosis inhibitor 1 109 anti-apoptosis|apoptosis cytoplasm|nucleolus cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 ATGCTGTCTTCACTTTGCTAT 0.403000 8 44 0 0 1 0 0 RELL2 285613 broad.mit.edu 37 5 141019656 141019656 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr5:141019656G>A ENST00000297164.3 + 5 1873 c.673G>A c.(673-675)Gag>Aag p.E225K RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000521367.1_Missense_Mutation_p.E159K|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000518856.1_Missense_Mutation_p.E159K|FCHSD1_ENST00000523856.1_5'UTR|RELL2_ENST00000444782.1_Missense_Mutation_p.E225K NM_173828.4 NP_776189.3 Q8NC24 RELL2_HUMAN RELT-like 2 225 integral to membrane|plasma membrane large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGCCCCCTGAGAGGCCACA 0.677000 18 47 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178095761 178095761 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:178095761C>G ENST00000397062.3 - 5 2124 c.1570G>C c.(1570-1572)Gaa>Caa p.E524Q NFE2L2_ENST00000446151.2_Missense_Mutation_p.E501Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E508Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E508Q NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 524 Leucine-zipper. transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TGCTCTAGTTCTACTATATTT 0.338000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 7 71 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263968 140263968 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr5:140263968C>T ENST00000289272.2 + 1 2115 c.2115C>T c.(2113-2115)tgC>tgT p.C705C PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.C705C|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCCATCTGCGCGGTGTCCA 0.667000 4 152 0 0 1 0 0 ATP6V1H 51606 broad.mit.edu 37 8 54730081 54730081 + Nonsense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr8:54730081G>A ENST00000355221.3 - 5 875 c.316C>T c.(316-318)Cag>Tag p.Q106* ATP6V1H_ENST00000396774.2_Nonsense_Mutation_p.Q106*|ATP6V1H_ENST00000359530.2_Nonsense_Mutation_p.Q106*|ATP6V1H_ENST00000520188.1_Nonsense_Mutation_p.Q66* NM_213619.2 NP_998784.1 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H 106 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) CTAACACGCTGATGATTTTCC 0.418000 4 25 0 0 1 0 0 GTF3C4 9329 broad.mit.edu 37 9 135553409 135553409 + Missense_Mutation SNP G G A rs141734420 TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr9:135553409G>A ENST00000372146.4 + 2 967 c.403G>A c.(403-405)Gcc>Acc p.A135T GTF3C4_ENST00000483873.2_Missense_Mutation_p.A135T NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 135 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) GAAATTCGCCGCCTCCAAGGA 0.458000 15 46 0 0 1 0 0 ACAP3 116983 broad.mit.edu 37 1 1231202 1231202 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:1231202C>T ENST00000354700.5 - 18 1821 c.1619G>A c.(1618-1620)cGg>cAg p.R540Q ACAP3_ENST00000353662.3_Missense_Mutation_p.R498Q NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 540 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 GCTGTGGGGCCGCAGGCACTT 0.657000 11 51 0 0 1 0 0 MAB21L1 4081 broad.mit.edu 37 13 36049570 36049570 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr13:36049570C>T ENST00000379919.4 - 1 1262 c.706G>A c.(706-708)Gag>Aag p.E236K NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 236 anatomical structure morphogenesis nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) TTCTCTGCCTCCGCGAACTGC 0.597000 21 127 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235922785 235922785 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:235922785C>T ENST00000389794.3 - 23 6542 c.6368G>A c.(6367-6369)gGa>gAa p.G2123E LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.G2123E Q99698 LYST_HUMAN lysosomal trafficking regulator 2123 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ACCCAAACTTCCAGTCAGTTT 0.418000 8 92 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108236221 108236221 + Nonsense_Mutation SNP A A T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr11:108236221A>T ENST00000278616.4 + 63 9542 c.9157A>T c.(9157-9159)Aaa>Taa p.K3053* ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Nonsense_Mutation_p.K3053*|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 3053 FATC. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CCCAGGATGGAAAGCTTGGGT 0.403000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 18 39 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220219808 220219808 + Translation_Start_Site SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:220219808G>C ENST00000366923.3 - 0 192 NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) AAAGGAAGAAGATGCAACGTG 0.682000 3 21 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120830514 120830514 + Nonsense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:120830514G>A ENST00000369144.3 - 5 752 c.625C>T c.(625-627)Cag>Tag p.Q209* EIF3A_ENST00000541549.1_Nonsense_Mutation_p.Q175* NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 209 formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) TGGTGGCGCTGAATCTGCGAT 0.423000 9 49 0 0 1 0 0 XRCC6BP1 91419 broad.mit.edu 37 12 58340842 58340842 + Missense_Mutation SNP G G C rs76031576 TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr12:58340842G>C ENST00000300145.3 + 3 423 c.298G>C c.(298-300)Gat>Cat p.D100H NM_033276.2 NP_150592.1 Q9Y6H3 ATP23_HUMAN XRCC6 binding protein 1 100 double-strand break repair via nonhomologous end joining DNA-dependent protein kinase-DNA ligase 4 complex DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 11 TGGAGGTTTTGATGCTTCAAC 0.388000 8 72 0 0 1 0 0 CLUL1 27098 broad.mit.edu 37 18 619236 619236 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr18:619236G>A ENST00000581619.1 + 3 1052 c.205G>A c.(205-207)Gat>Aat p.D69N CLUL1_ENST00000540035.1_Missense_Mutation_p.D96N|CLUL1_ENST00000579494.1_Missense_Mutation_p.D44N|CLUL1_ENST00000338387.7_Missense_Mutation_p.D44N|CLUL1_ENST00000400606.2_Missense_Mutation_p.D44N|CLUL1_ENST00000580436.1_3'UTR Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) 44 cell death extracellular region NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 GGGGGAGATAGATGCAGATGA 0.388000 29 87 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375232 113375232 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:113375232G>A ENST00000316407.4 - 7 5707 c.5297C>T c.(5296-5298)tCa>tTa p.S1766L KIAA2018_ENST00000478658.1_Missense_Mutation_p.S1766L|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1766 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 ACTCCGCAATGATGATACAGG 0.433000 34 146 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49570510 49570510 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:49570510G>A ENST00000545947.1 + 6 3288 c.2566G>A c.(2566-2568)Gag>Aag p.E856K DAG1_ENST00000538711.1_Missense_Mutation_p.E856K|DAG1_ENST00000308775.2_Missense_Mutation_p.E856K|DAG1_ENST00000515359.2_Missense_Mutation_p.E856K|DAG1_ENST00000541308.1_Missense_Mutation_p.E856K|DAG1_ENST00000539901.1_Missense_Mutation_p.E856K NM_001177634.2 NP_001171105 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 856 Pro-rich.|Required for interaction with CAV3. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CCTGCGGGATGAGGATCCCAA 0.642000 20 77 0 0 1 0 0 HELLS 3070 broad.mit.edu 37 10 96353307 96353307 + Nonsense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:96353307C>T ENST00000348459.5 + 18 2128 c.2023C>T c.(2023-2025)Cga>Tga p.R675* RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000371332.4_Nonsense_Mutation_p.R721*|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Nonsense_Mutation_p.R577*|HELLS_ENST00000394036.1_3'UTR NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 675 Helicase C-terminal. cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) AGTGAGTACACGAGCTGGTGG 0.373000 12 75 0 0 1 0 0 ZNF525 170958 broad.mit.edu 37 19 53885002 53885002 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:53885002G>C ENST00000467003.1 + 4 1263 c.1062G>C c.(1060-1062)aaG>aaC p.K354N ZNF525_ENST00000474037.1_Missense_Mutation_p.K390N|ZNF525_ENST00000355326.3_Missense_Mutation_p.K108N|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 ATTGTGGCAAGACCTTCAGTC 0.383000 10 82 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113461040 113461040 + Nonsense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:113461040G>A ENST00000505019.1 - 27 6276 c.6151C>T c.(6151-6153)Cga>Tga p.R2051* RP11-402J6.1_ENST00000504009.1_RNA NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TGGATCACTCGTCCCCAAAGT 0.373000 9 74 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58979536 58979536 + Nonsense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr11:58979536G>C ENST00000361050.3 - 1 888 c.803C>G c.(802-804)tCa>tGa p.S268* NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 268 MACPF. integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) GGTTCGGTTTGAGAGGTAGCT 0.537000 8 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179413577 179413577 + Missense_Mutation SNP C C G rs147225383 by1000genomes TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:179413577C>G ENST00000589042.1 - 339 93000 c.92776G>C c.(92776-92778)Gac>Cac p.D30926H TTN_ENST00000342175.6_Missense_Mutation_p.D22053H|TTN_ENST00000591111.1_Missense_Mutation_p.D29285H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D21986H|TTN_ENST00000460472.2_Missense_Mutation_p.D21861H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D28358H|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29285 Fibronectin type-III 125. 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) GCATCTATGTCTAACTCAGGA 0.468000 11 54 0 0 1 0 0 COQ6 51004 broad.mit.edu 37 14 74420143 74420143 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr14:74420143G>C ENST00000334571.2 + 2 209 c.169G>C c.(169-171)Gat>Cat p.D57H COQ6_ENST00000394026.4_Missense_Mutation_p.D32H|COQ6_ENST00000238709.4_Start_Codon_SNP_p.M1I|COQ6_ENST00000554920.1_Missense_Mutation_p.D57H|COQ6_ENST00000555552.1_3'UTR NM_182476.2 NP_872282.1 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 monooxygenase 57 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(234;0.00337) TTAAGGATATGATATTCACTT 0.353000 3 48 0 0 1 0 0 RSL1D1 26156 broad.mit.edu 37 16 11931707 11931707 + Silent SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:11931707C>G ENST00000571133.1 - 9 1482 c.1410G>C c.(1408-1410)gtG>gtC p.V470V RSL1D1_ENST00000542106.1_Silent_p.V250V NM_015659.2 NP_056474.2 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 470 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 15 AAGCTTTTCTCACAGATTTAC 0.463000 49 258 0 0 1 0 0 ZNF793 390927 broad.mit.edu 37 19 38028716 38028716 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:38028716C>G ENST00000445217.1 + 4 1191 c.1156C>G c.(1156-1158)Cag>Gag p.Q386E ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000587143.1_Missense_Mutation_p.Q386E|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.Q386E Q6ZN11 ZN793_HUMAN zinc finger protein 793 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGCAGACATCAGAAAATTCA 0.403000 10 29 0 0 1 0 0 SLC9B1 150159 broad.mit.edu 37 4 103822351 103822351 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:103822351G>A ENST00000296422.7 - 12 1612 c.1471C>T c.(1471-1473)Ctg>Ttg p.L491L SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR NM_139173.3 NP_631912 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 491 integral to membrane solute:hydrogen antiporter activity TTAGGCCCCAGAATGCCCATA 0.423000 5 242 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26086024 26086024 + Silent SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:26086024G>C ENST00000313735.6 - 26 3470 c.3237C>G c.(3235-3237)ctC>ctG p.L1079L NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 1079 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CGCAAACATAGAGGTGGCCTG 0.607000 3 33 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145112928 145112928 + Missense_Mutation SNP G G T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr8:145112928G>T ENST00000426825.1 - 8 1154 c.1073C>A c.(1072-1074)tCc>tAc p.S358Y OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 358 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) GAAGAGGCGGGAACCCCCTCC 0.647000 18 66 5.03518e-11 5.35408e-11 1 1 0 POC1B-GALNT4 100528030 broad.mit.edu 37 12 89917871 89917871 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr12:89917871G>A ENST00000548729.1 - 3 749 c.447C>T c.(445-447)ctC>ctT p.L149L GALNT4_ENST00000529983.2_Silent_p.L152L|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000541909.1_Intron NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 GAATGGTACGGAGCAAAGTCG 0.403000 OREG0022018 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 60 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64819607 64819607 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr12:64819607G>A ENST00000332707.5 + 15 2114 c.1585G>A c.(1585-1587)Gat>Aat p.D529N NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 529 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GGCTTTCTTAGATCACAGAGG 0.378000 23 208 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13769528 13769528 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr12:13769528C>G ENST00000609686.1 - 5 1398 c.1189G>C c.(1189-1191)Gag>Cag p.E397Q NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCTTCAGTCTCTGGACACATT 0.512000 11 107 0 0 1 0 0 CHFR 55743 broad.mit.edu 37 12 133438095 133438095 + Missense_Mutation SNP C C T rs147803776 TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr12:133438095C>T ENST00000266880.7 - 7 808 c.745G>A c.(745-747)Gat>Aat p.D249N CHFR_ENST00000450056.2_Missense_Mutation_p.D237N|CHFR_ENST00000432561.2_Missense_Mutation_p.D249N|CHFR_ENST00000315585.7_Missense_Mutation_p.D208N|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Missense_Mutation_p.D157N Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 249 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) TCCTCCTGATCCTGGGGTTCC 0.542000 19 87 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73801879 73801879 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr11:73801879C>G ENST00000334126.7 - 20 3846 c.3620G>C c.(3619-3621)tGt>tCt p.C1207S C2CD3_ENST00000313663.7_Missense_Mutation_p.C1207S Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1207 C2 1. centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TTGCAGACCACAGGCTCTGAT 0.463000 32 183 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115760586 115760586 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:115760586C>G ENST00000264363.2 - 11 2912 c.2234G>C c.(2233-2235)gGa>gCa p.G745A NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 745 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TGCATACCATCCAGGTACTAG 0.378000 7 88 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427443 197427443 + Silent SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:197427443C>G ENST00000449205.1 - 7 1490 c.1302G>C c.(1300-1302)ctG>ctC p.L434L KIAA0226_ENST00000389665.5_Intron|KIAA0226_ENST00000296343.5_Intron|KIAA0226_ENST00000273582.5_Intron Q92622 RUBIC_HUMAN KIAA0226 0 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) ACTCTCAATTCAGGGTCATCT 0.458000 10 64 0 0 1 0 0 GRK5 2869 broad.mit.edu 37 10 121203194 121203194 + Missense_Mutation SNP G G A rs143962659 byFrequency TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:121203194G>A ENST00000392870.2 + 12 1525 c.1196G>A c.(1195-1197)cGc>cAc p.R399H GRK5_ENST00000369108.3_Missense_Mutation_p.R294H NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 399 Protein kinase. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity p.R399L(1) endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) GAGGTGGACCGCCGGGTCCTG 0.637000 13 57 0 0 1 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433812 72433812 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chrX:72433812C>T ENST00000373517.3 - 1 872 c.517G>A c.(517-519)Gag>Aag p.E173K NAP1L2_ENST00000536638.1_Missense_Mutation_p.E31K NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 173 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TCACAGTCCTCAGAGTCTGAT 0.398000 9 39 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 36 0 0 1 0 0 P2RX6 9127 broad.mit.edu 37 22 21377013 21377013 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr22:21377013G>A ENST00000413302.2 + 4 584 c.436G>A c.(436-438)Gaa>Aaa p.E146K P2RX6_ENST00000402329.3_Intron|P2RX6_ENST00000443995.3_Missense_Mutation_p.E93K|P2RX6_ENST00000336296.2_Missense_Mutation_p.E136K|P2RX6_ENST00000401443.1_Missense_Mutation_p.E120K O15547 P2RX6_HUMAN purinergic receptor P2X, ligand-gated ion channel, 6 146 muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity GGACTGCCCCGAAGGGGAGGG 0.667000 3 15 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97466366 97466366 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:97466366C>T ENST00000389672.5 + 17 3266 c.3228C>T c.(3226-3228)ttC>ttT p.F1076F NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 981 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 AGAATAACTTCGTGGCAGCAG 0.423000 4 29 0 0 1 0 0 NUP133 55746 broad.mit.edu 37 1 229637823 229637823 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:229637823C>G ENST00000261396.3 - 3 419 c.328G>C c.(328-330)Gat>Cat p.D110H NUP133_ENST00000537506.1_Missense_Mutation_p.D94H|NUP133_ENST00000366678.3_Missense_Mutation_p.D110H NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 110 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) CCACCTTCATCTATGTTAATG 0.378000 11 127 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76753653 76753653 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr18:76753653G>A ENST00000536229.3 + 1 1972 c.1263G>A c.(1261-1263)caG>caA p.Q421Q SALL3_ENST00000537592.2_Silent_p.Q554Q|SALL3_ENST00000575389.2_Silent_p.Q554Q Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GCTCCCCGCAGAGGCCCTCGC 0.746000 4 15 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41550907 41550907 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr21:41550907C>T ENST00000400454.1 - 15 3371 c.2894G>A c.(2893-2895)cGg>cAg p.R965Q NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 965 Fibronectin type-III 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.R965Q(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTTGCCAATCCGGTTCTTGGC 0.597000 11 61 0 0 1 0 0 MICU1 10367 broad.mit.edu 37 10 74183013 74183013 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:74183013C>G ENST00000398761.4 - 11 1188 c.1056G>C c.(1054-1056)aaG>aaC p.K352N MICU1_ENST00000418483.2_Missense_Mutation_p.K152N|MICU1_ENST00000401998.3_Missense_Mutation_p.K350N|MICU1_ENST00000398763.4_Missense_Mutation_p.K152N|MICU1_ENST00000361114.5_Missense_Mutation_p.K350N Q9BPX6 MICU1_HUMAN mitochondrial calcium uptake 1 350 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding TGAAGTGCTTCTTGAGCTGCC 0.453000 16 66 0 0 1 0 0 MLLT4-AS1 653483 broad.mit.edu 37 6 168226401 168226401 + RNA SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr6:168226401G>A ENST00000359760.5 - 0 988 NR_027906.1 GAAGAAAACAGCTTGAAAAGG 0.582000 9 84 0 0 1 0 0 LEMD1 93273 broad.mit.edu 37 1 205389616 205389616 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:205389616C>G ENST00000367153.4 - 2 151 c.49G>C c.(49-51)Gag>Cag p.E17Q LEMD1_ENST00000367154.1_Missense_Mutation_p.E17Q|LEMD1_ENST00000367151.2_Missense_Mutation_p.E17Q|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000391936.2_Missense_Mutation_p.E17Q|LEMD1_ENST00000367149.3_Missense_Mutation_p.E17Q|LEMD1_ENST00000367152.1_Missense_Mutation_p.E17Q NM_001199050.1 NP_001185979.1 Q68G75 LEMD1_HUMAN LEM domain containing 1 17 LEM. integral to membrane|nuclear envelope breast(1)|lung(2) 3 Breast(84;0.247) BRCA - Breast invasive adenocarcinoma(75;0.0938) CCAAGCTTCTCAAGTTGGTTC 0.363000 5 48 0 0 1 0 0 AASDH 132949 broad.mit.edu 37 4 57221548 57221548 + Translation_Start_Site SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:57221548G>C ENST00000434343.2 - 0 735 AASDH_ENST00000513376.1_Missense_Mutation_p.I201M|AASDH_ENST00000205214.6_Missense_Mutation_p.I301M|AASDH_ENST00000451613.1_Missense_Mutation_p.I301M|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000602986.1_Missense_Mutation_p.I148M|AASDH_ENST00000502617.1_Missense_Mutation_p.I301M Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) CAGTTGACTTGATAAGCTGAG 0.378000 10 106 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62223401 62223401 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr15:62223401G>A ENST00000261517.5 - 50 5999 c.5926C>T c.(5926-5928)Ctt>Ttt p.L1976F VPS13C_ENST00000395896.4_Missense_Mutation_p.L1976F|VPS13C_ENST00000249837.3_Missense_Mutation_p.L1933F|VPS13C_ENST00000395898.3_Missense_Mutation_p.L1933F NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1976 protein localization p.L1976F(1) 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 GAGGCCATAAGATGTAGTCTG 0.383000 5 37 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 24 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166245311 166245311 + Silent SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:166245311C>G ENST00000375437.2 + 27 5285 c.4995C>G c.(4993-4995)ctC>ctG p.L1665L SCN2A_ENST00000375427.2_Silent_p.L1665L|SCN2A_ENST00000283256.6_Silent_p.L1665L|SCN2A_ENST00000357398.3_Silent_p.L1665L NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1665 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) ACATCGGCCTCCTTCTTTTCC 0.473000 17 167 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67380272 67380272 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:67380272G>C ENST00000329956.6 + 3 331 c.312G>C c.(310-312)ttG>ttC p.L104F LRRC36_ENST00000563303.1_3'UTR NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 104 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) AACTGGATTTGAGACTTAATC 0.373000 19 84 0 0 1 0 0 CNNM3 26505 broad.mit.edu 37 2 97490857 97490857 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:97490857G>A ENST00000305510.3 + 2 1316 c.1288G>A c.(1288-1290)Gag>Aag p.E430K CNNM3_ENST00000377060.3_Intron|ANKRD23_ENST00000476975.1_Intron NM_017623.4 NP_060093.3 Q8NE01 CNNM3_HUMAN cyclin M3 430 CBS 2. ion transport integral to membrane|plasma membrane protein binding NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2) 13 CCCCTTCTACGAGGTCCTGGG 0.602000 11 45 0 0 1 0 0 GRK4 2868 broad.mit.edu 37 4 2965807 2965807 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:2965807G>C ENST00000398052.4 + 1 353 c.10G>C c.(10-12)Gag>Cag p.E4Q GRK4_ENST00000442472.2_Missense_Mutation_p.R33P|GRK4_ENST00000503518.2_Missense_Mutation_p.E4Q|GRK4_ENST00000504933.1_Missense_Mutation_p.E4Q|GRK4_ENST00000345167.6_Missense_Mutation_p.E4Q|GRK4_ENST00000398051.4_Missense_Mutation_p.E4Q NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 4 N-terminal. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CATGGAGCTCGAGAACATCGT 0.706000 5 18 0 0 1 0 0 SLMAP 7871 broad.mit.edu 37 3 57850347 57850347 + Translation_Start_Site SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:57850347G>A ENST00000416870.1 + 0 1244 SLMAP_ENST00000428312.1_Missense_Mutation_p.D347N|SLMAP_ENST00000383718.3_Missense_Mutation_p.D347N|SLMAP_ENST00000295951.3_Missense_Mutation_p.D347N|SLMAP_ENST00000449503.2_Missense_Mutation_p.D347N|SLMAP_ENST00000295952.3_Missense_Mutation_p.D347N Q14BN4 SLMAP_HUMAN sarcolemma associated protein muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) ACATAAAATAGATGAAATGGA 0.348000 23 118 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179474265 179474265 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:179474265C>G ENST00000589042.1 - 273 51996 c.51772G>C c.(51772-51774)Gaa>Caa p.E17258Q TTN_ENST00000342175.6_Missense_Mutation_p.E8385Q|TTN_ENST00000591111.1_Missense_Mutation_p.E15617Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8318Q|TTN_ENST00000460472.2_Missense_Mutation_p.E8193Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14690Q|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15617 Fibronectin type-III 25. 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) CGTTTCACTTCTAGGCTTGTT 0.338000 19 100 0 0 1 0 0 MTF1 4520 broad.mit.edu 37 1 38289415 38289415 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:38289415C>T ENST00000373036.4 - 8 1278 c.1138G>A c.(1138-1140)Gat>Aat p.D380N NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 380 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ATTGCCGTATCATCTGAATTC 0.458000 5 39 0 0 1 0 0 SYTL1 84958 broad.mit.edu 37 1 27674037 27674037 + Missense_Mutation SNP T T C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:27674037T>C ENST00000543823.1 + 2 779 c.317T>C c.(316-318)aTg>aCg p.M106T SYTL1_ENST00000318074.5_Missense_Mutation_p.M106T|SYTL1_ENST00000490170.1_3'UTR Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 106 exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 12 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CGAGCGTCTATGCGCAGGAAG 0.632000 9 84 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62892233 62892233 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:62892233C>T ENST00000584306.1 - 3 1673 c.1143G>A c.(1141-1143)gaG>gaA p.E381E RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000319651.5_Silent_p.E381E NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 381 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GACCTGGGGTCTCCTGCTGGG 0.517000 21 429 0 0 1 0 0 ARHGAP4 393 broad.mit.edu 37 X 153178221 153178221 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chrX:153178221C>T ENST00000370028.3 - 13 1652 c.1595G>A c.(1594-1596)cGc>cAc p.R532H ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R314H|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R492H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R469H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R471H NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 492 Rho-GAP. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCGGGGCTGGCGGCTCTTCTG 0.592000 12 62 0 0 1 0 0 PNCK 139728 broad.mit.edu 37 X 152937060 152937060 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chrX:152937060G>C ENST00000393831.2 - 6 916 c.482C>G c.(481-483)tCc>tGc p.S161C PNCK_ENST00000370150.1_Missense_Mutation_p.S161C|PNCK_ENST00000340888.3_Missense_Mutation_p.S161C|PNCK_ENST00000447676.2_Missense_Mutation_p.S244C|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Missense_Mutation_p.S178C|PNCK_ENST00000370142.1_Missense_Mutation_p.S161C NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase 161 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGGATTTTGGAGAGTCCAAA 0.592000 17 70 0 0 1 0 0 TMEM223 79064 broad.mit.edu 37 11 62559447 62559447 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr11:62559447C>T ENST00000307366.7 - 1 46 c.20G>A c.(19-21)cGa>cAa p.R7Q TMEM223_ENST00000525631.1_Missense_Mutation_p.R7Q NM_001080501.2 NP_001073970.1 A0PJW6 TM223_HUMAN transmembrane protein 223 7 integral to membrane CGTGGGCCATCGCCTCCAAGG 0.726000 3 7 0 0 1 0 0 ZNF330 27309 broad.mit.edu 37 4 142145770 142145770 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:142145770G>C ENST00000262990.4 + 4 378 c.150G>C c.(148-150)aaG>aaC p.K50N ZNF330_ENST00000421169.2_Intron NM_014487.4 NP_055302.1 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 50 chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(180;0.162) GGCGGCAGAAGAATAGAGCAT 0.294000 9 70 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348416 30348416 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:30348416C>T ENST00000327564.7 + 1 393 c.332C>T c.(331-333)tCa>tTa p.S111L LRRC37B_ENST00000584368.1_Missense_Mutation_p.S96L|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S84L|LRRC37B_ENST00000341671.7_Missense_Mutation_p.S84L|LRRC37B_ENST00000543378.2_Missense_Mutation_p.S2L Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 84 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) TCGCAGATGTCAGCCCTGCCT 0.597000 14 134 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67314998 67314998 + Missense_Mutation SNP G G A rs140708063 TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:67314998G>A ENST00000360461.5 + 4 3259 c.724G>A c.(724-726)Gaa>Aaa p.E242K PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E242K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E242K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E161K NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 242 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) CTTTAGGCCCGAAGTACAGGC 0.557000 22 110 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813826 106813826 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr8:106813826G>C ENST00000407775.2 + 8 1766 c.1516G>C c.(1516-1518)Gat>Cat p.D506H RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.D374H|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.D237H|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.D374H NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 506 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TTTCCCCCAAGATATCACCAT 0.512000 11 198 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118492623 118492623 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:118492623C>G ENST00000349139.5 + 15 1663 c.1616C>G c.(1615-1617)tCt>tGt p.S539C NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 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) GCTAGACTTTCTGTGAAGCAA 0.368000 27 145 0 0 1 0 0 NEU3 10825 broad.mit.edu 37 11 74717267 74717267 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr11:74717267G>A ENST00000294064.4 + 3 2043 c.1116G>A c.(1114-1116)caG>caA p.Q372Q NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000544263.1_Silent_p.Q339Q|NEU3_ENST00000531509.1_Silent_p.Q372Q|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000545272.1_Silent_p.Q263Q NM_006656.5 NP_006647.3 A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 372 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 GTAGGAAACAGAGGGTTGACC 0.567000 28 107 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29821616 29821616 + Missense_Mutation SNP C C A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:29821616C>A ENST00000375398.2 - 10 2129 c.1680G>T c.(1678-1680)ttG>ttT p.L560F SVIL_ENST00000355867.4_Missense_Mutation_p.L560F|SVIL_ENST00000375400.3_Intron O95425 SVIL_HUMAN supervillin 560 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) CCTTATACTTCAAGGCCTGGA 0.567000 19 89 3.5997e-14 3.86634e-14 1 1 0 OR4C46 119749 broad.mit.edu 37 11 51515494 51515494 + Silent SNP T T C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr11:51515494T>C ENST00000328188.1 + 1 213 c.213T>C c.(211-213)taT>taC p.Y71Y NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 ATGCCTGCTATTCCTCTGTCA 0.473000 63 192 0 0 1 0 0 LPAR1 1902 broad.mit.edu 37 9 113704109 113704109 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr9:113704109C>G ENST00000374431.3 - 4 768 c.385G>C c.(385-387)Gac>Cac p.D129H LPAR1_ENST00000374430.2_Missense_Mutation_p.D129H|LPAR1_ENST00000358883.4_Missense_Mutation_p.D129H|LPAR1_ENST00000541779.1_Missense_Mutation_p.D130H|LPAR1_ENST00000538760.1_Missense_Mutation_p.D130H NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 129 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 AGGCTGGTGTCAATGAGGCCC 0.527000 36 149 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13074214 13074214 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr20:13074214C>G ENST00000399002.2 + 6 1090 c.816C>G c.(814-816)ttC>ttG p.F272L SPTLC3_ENST00000378194.4_Missense_Mutation_p.F272L NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 272 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) TAAGAATCTTCAAACACAACA 0.423000 10 49 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20974804 20974804 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:20974804G>C ENST00000261383.3 - 53 10401 c.10402C>G c.(10402-10404)Caa>Gaa p.Q3468E DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3468 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCCAATCCTTGAGAGAACTTC 0.512000 8 55 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 32483411 32483411 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:32483411C>T ENST00000359872.6 - 1 902 c.141G>A c.(139-141)gtG>gtA p.V47V NM_001094.4 NP_001085.2 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 47 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CCACGAAGGCCACTGCCCACA 0.592000 11 51 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37650591 37650591 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr21:37650591G>A ENST00000399151.3 + 30 5992 c.5907G>A c.(5905-5907)agG>agA p.R1969R NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1969 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GAGCCTGGAGGAAGGAGGTCC 0.547000 10 88 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348407 30348407 + Missense_Mutation SNP C C T rs142433491 TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:30348407C>T ENST00000327564.7 + 1 384 c.323C>T c.(322-324)tCg>tTg p.S108L LRRC37B_ENST00000584368.1_Missense_Mutation_p.S93L|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S81L|LRRC37B_ENST00000341671.7_Missense_Mutation_p.S81L|LRRC37B_ENST00000543378.2_Intron Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 81 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) TCTGCTTCTTCGCAGATGTCA 0.597000 14 139 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145597034 145597034 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:145597034C>G ENST00000334163.3 - 11 1251 c.1091G>C c.(1090-1092)aGa>aCa p.R364T POLR3C_ENST00000369294.1_Missense_Mutation_p.R364T NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 364 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) ACGGAATATTCTAGCACAGCG 0.423000 23 45 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86249954 86249954 + Silent SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:86249954C>G ENST00000370571.2 - 49 4521 c.4155G>C c.(4153-4155)ctG>ctC p.L1385L COL24A1_ENST00000436319.1_Silent_p.L1385L NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1385 Collagen-like 16. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) GCTGCCCTTTCAGGCCAGGGT 0.458000 13 90 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214170224 214170224 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:214170224C>G ENST00000366958.4 + 2 954 c.346C>G c.(346-348)Ctc>Gtc p.L116V PROX1_ENST00000261454.4_Missense_Mutation_p.L116V|PROX1_ENST00000498508.2_Missense_Mutation_p.L116V|PROX1_ENST00000435016.1_Missense_Mutation_p.L116V NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 116 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) AGCCAGCGGTCTCTCTAGTAC 0.488000 14 118 0 0 1 0 0 TRIM63 84676 broad.mit.edu 37 1 26380408 26380408 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:26380408C>G ENST00000374272.3 - 8 1165 c.1027G>C c.(1027-1029)Gag>Cag p.E343Q NM_032588.3 NP_115977.2 Q969Q1 TRI63_HUMAN tripartite motif containing 63, E3 ubiquitin protein ligase 343 cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) TCTGTGGACTCTTCCTCTTCC 0.433000 5 78 0 0 1 0 0 KRTAP19-5 337972 broad.mit.edu 37 21 31874370 31874370 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr21:31874370G>A ENST00000334151.2 - 1 65 c.39C>T c.(37-39)taC>taT p.Y13Y NM_181611.1 NP_853642.1 Q3LI72 KR195_HUMAN keratin associated protein 19-5 13 intermediate filament protein binding endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1) 12 CTCCGTAGCCGTAGCCCAGGC 0.572000 25 223 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61743070 61743070 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr8:61743070G>A ENST00000423902.2 + 15 4191 c.3712G>A c.(3712-3714)Gta>Ata p.V1238I CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1238 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TCAAGCTAACGTACCTAACCT 0.413000 30 92 0 0 1 0 0 RNF220 55182 broad.mit.edu 37 1 44878058 44878058 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:44878058C>T ENST00000355387.2 + 2 739 c.289C>T c.(289-291)Cct>Tct p.P97S RNF220_ENST00000361799.2_Missense_Mutation_p.P97S|RNF220_ENST00000372247.2_Missense_Mutation_p.P97S Q5VTB9 RN220_HUMAN ring finger protein 220 97 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 ACACCTCCACCCTCAATTTGC 0.542000 60 223 0 0 1 0 0 DNTT 1791 broad.mit.edu 37 10 98092135 98092135 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:98092135G>C ENST00000419175.1 + 9 1311 c.1141G>C c.(1141-1143)Gag>Cag p.E381Q DNTT_ENST00000371174.2_Missense_Mutation_p.E381Q NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 381 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) TGACCTTGTGGAGTCAACATT 0.373000 8 71 0 0 1 0 0 FASTK 10922 broad.mit.edu 37 7 150774841 150774841 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr7:150774841G>A ENST00000297532.6 - 6 1143 c.1066C>T c.(1066-1068)Cgc>Tgc p.R356C FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.R329C|FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000353841.2_Missense_Mutation_p.R215C NM_006712.4 NP_006703.1 Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 356 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) GAGAGGTAGCGACGCACAATC 0.697000 7 55 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138591729 138591729 + Silent SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr7:138591729G>C ENST00000440172.1 - 6 3444 c.3396C>G c.(3394-3396)ctC>ctG p.L1132L KIAA1549_ENST00000242365.4_Silent_p.L1082L|KIAA1549_ENST00000422774.1_Silent_p.L1132L NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1132 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TCAAGTTTCTGAGCAGCTCGC 0.537000 O BRAF pilocytic astrocytoma 10 86 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99012572 99012572 + Silent SNP C C T rs138545096 TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:99012572C>T ENST00000393504.1 + 8 1356 c.939C>T c.(937-939)atC>atT p.I313I CNGA3_ENST00000409937.1_Silent_p.I317I|CNGA3_ENST00000272602.2_Silent_p.I313I|CNGA3_ENST00000436404.2_Silent_p.I295I NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 313 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 TTCTCATCATCATCCACTGGA 0.468000 11 88 0 0 1 0 0 HS2ST1 9653 broad.mit.edu 37 1 87380822 87380822 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:87380822G>C ENST00000370550.5 + 1 466 c.103G>C c.(103-105)Gag>Cag p.E35Q HS2ST1_ENST00000370551.4_Missense_Mutation_p.E35Q NM_012262.3 NP_036394.1 Q7LGA3 HS2ST_HUMAN heparan sulfate 2-O-sulfotransferase 1 35 Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5) 9 Lung NSC(277;0.153) all cancers(265;0.00699)|Epithelial(280;0.0261) CCAGAAACTGGAGGAGTCCCG 0.632000 19 79 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42588376 42588376 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:42588376C>G ENST00000381668.5 - 9 943 c.712G>C c.(712-714)Gat>Cat p.D238H ATP8A1_ENST00000264449.10_Missense_Mutation_p.D238H NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 238 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) CCATGTCCATCAAGCCTTATG 0.368000 7 43 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245848976 245848976 + Missense_Mutation SNP G G T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:245848976G>T ENST00000366518.4 + 9 1652 c.1548G>T c.(1546-1548)caG>caT p.Q516H KIF26B_ENST00000407071.2_Missense_Mutation_p.Q897H Q2KJY2 KI26B_HUMAN kinesin family member 26B 897 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CAGCCCTGCAGAAGACCCGGG 0.652000 7 38 5.18039e-06 5.41818e-06 1 1 0 PI4KB 5298 broad.mit.edu 37 1 151288521 151288521 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:151288521G>A ENST00000368875.2 - 3 1053 c.473C>T c.(472-474)tCa>tTa p.S158L PI4KB_ENST00000368873.1_Missense_Mutation_p.S146L|PI4KB_ENST00000271657.5_Missense_Mutation_p.S158L|PI4KB_ENST00000368874.4_Missense_Mutation_p.S146L|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Missense_Mutation_p.S146L NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 146 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATACAGGTATGAAATGGCCAT 0.507000 8 85 0 0 1 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111631599 111631599 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:111631599G>A ENST00000502935.1 - 17 1592 c.1473C>T c.(1471-1473)ctC>ctT p.L491L XPNPEP1_ENST00000369683.1_Silent_p.L377L|XPNPEP1_ENST00000369680.4_Silent_p.L448L|XPNPEP1_ENST00000322238.8_Silent_p.L467L Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 448 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) TGTGGCCCTTGAGGACATATG 0.473000 6 79 0 0 1 0 0 CD46 4179 broad.mit.edu 37 1 207934759 207934759 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:207934759C>T ENST00000358170.2 + 5 797 c.641C>T c.(640-642)tCa>tTa p.S214L CD46_ENST00000480003.1_Missense_Mutation_p.S214L|CD46_ENST00000367042.1_Missense_Mutation_p.S214L|CD46_ENST00000360212.2_Missense_Mutation_p.S214L|CD46_ENST00000322918.5_Missense_Mutation_p.S214L|CD46_ENST00000361067.1_Missense_Mutation_p.S214L|CD46_ENST00000322875.4_Missense_Mutation_p.S214L|CD46_ENST00000441839.2_Missense_Mutation_p.S214L|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000354848.1_Missense_Mutation_p.S214L|CD46_ENST00000367041.1_Missense_Mutation_p.S214L|CD46_ENST00000367047.1_Missense_Mutation_p.S151L|CD46_ENST00000357714.1_Missense_Mutation_p.S214L NM_002389.4 NP_002380.3 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 214 Sushi 3. complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 GGTGACAATTCAGTGTGGAGT 0.368000 4 45 0 0 1 0 0 TAS2R3 50831 broad.mit.edu 37 7 141464637 141464637 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr7:141464637G>A ENST00000247879.2 + 1 741 c.679G>A c.(679-681)Gag>Aag p.E227K SSBP1_ENST00000465582.1_Intron NM_016943.2 NP_058639.1 Q9NYW6 TA2R3_HUMAN taste receptor, type 2, member 3 227 sensory perception of taste taste receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5) 14 Melanoma(164;0.0171) TCCAACCACTGAGGCCCACAA 0.468000 12 34 0 0 1 0 0 PRPF38B 55119 broad.mit.edu 37 1 109241269 109241269 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:109241269G>C ENST00000370021.1 + 6 906 c.269G>C c.(268-270)gGa>gCa p.G90A PRPF38B_ENST00000370025.4_Missense_Mutation_p.G201A Q5VTL8 PR38B_HUMAN pre-mRNA processing factor 38B 201 mRNA processing|RNA splicing spliceosomal complex NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1) 19 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) ATGACCATTGGAGAAATGCTA 0.378000 13 52 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238243312 238243312 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:238243312C>T ENST00000295550.4 - 41 9638 c.9186G>A c.(9184-9186)ctG>ctA p.L3062L COL6A3_ENST00000347401.3_Silent_p.L2861L|COL6A3_ENST00000353578.4_Silent_p.L2856L|COL6A3_ENST00000472056.1_Silent_p.L2455L|COL6A3_ENST00000346358.4_Silent_p.L2862L|COL6A3_ENST00000409809.1_Silent_p.L2856L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 3062 Fibronectin type-III.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCTGAGACCTCAGGTAGCAGA 0.512000 4 31 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77465475 77465475 + Nonsense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:77465475G>C ENST00000282849.5 - 3 630 c.212C>G c.(211-213)tCa>tGa p.S71* ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 71 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TGACCCGGCTGAGTCTACTTC 0.483000 57 288 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31391655 31391655 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:31391655G>A ENST00000268296.4 + 27 3250 c.3129G>A c.(3127-3129)ctG>ctA p.L1043L ITGAX_ENST00000562522.1_Silent_p.L1043L NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 1043 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 AGGAGGAGCTGGATTTCACCC 0.627000 6 48 0 0 1 0 0 ENOPH1 58478 broad.mit.edu 37 4 83372248 83372248 + Missense_Mutation SNP G G T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:83372248G>T ENST00000273920.3 + 3 507 c.239G>T c.(238-240)gGg>gTg p.G80V ENOPH1_ENST00000509635.1_5'UTR NM_021204.3 NP_067027.1 Q9UHY7 ENOPH_HUMAN enolase-phosphatase 1 80 L-methionine salvage from methylthioadenosine cytoplasm|nucleus 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1) 13 GCAGCATCTGGGAATGGAGTG 0.478000 6 45 0.0215528 0.0216205 1 1 0 ZNF544 27300 broad.mit.edu 37 19 58772640 58772640 + Missense_Mutation SNP G G C rs142703958 byFrequency TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:58772640G>C ENST00000269829.4 + 7 1142 c.668G>C c.(667-669)tGt>tCt p.C223S ZNF544_ENST00000600220.1_Missense_Mutation_p.C195S|ZNF544_ENST00000599953.1_Missense_Mutation_p.C81S|ZNF544_ENST00000596652.1_Missense_Mutation_p.C223S|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.C195S|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.C195S NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) AGAGCTTTCTGTCAGAGTATT 0.378000 13 89 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190966 209190966 + Missense_Mutation SNP A A G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:209190966A>G ENST00000264380.4 + 20 3589 c.3431A>G c.(3430-3432)gAt>gGt p.D1144G NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1144 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 CATCTGGGCGATAGCCAGAGC 0.473000 13 70 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114380357 114380357 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:114380357C>G ENST00000359785.5 - 13 1800 c.1665G>C c.(1663-1665)gaG>gaC p.E555D PTPN22_ENST00000528414.1_Missense_Mutation_p.E500D|PTPN22_ENST00000538253.1_Missense_Mutation_p.E311D|PTPN22_ENST00000420377.2_Missense_Mutation_p.E555D|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000525799.1_Missense_Mutation_p.E428D NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 555 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CATCTTGCTTCTCAGGTAAAT 0.373000 4 102 0 0 1 0 0 SNORD114-28 767609 broad.mit.edu 37 14 101455496 101455496 + RNA SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr14:101455496G>C ENST00000363610.1 + 0 30 NR_003221.1 GGTGGCGTATGAGTCATATGC 0.388000 9 168 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20246062 20246062 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr20:20246062G>A ENST00000389656.3 + 22 2621 c.575G>A c.(574-576)gGa>gAa p.G192E C20orf26_ENST00000377293.1_Missense_Mutation_p.G192E|C20orf26_ENST00000245957.5_Intron|C20orf26_ENST00000377309.2_Intron|RP5-1096J16.1_ENST00000460400.1_RNA Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 0 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TTCTCAGATGGAGGAAGAGCA 0.433000 20 317 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32915444 32915444 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:32915444G>A ENST00000383763.5 + 2 1050 c.987G>A c.(985-987)ctG>ctA p.L329L NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCCAGCTGCTGGCAGATGCCC 0.627000 31 156 0 0 1 0 0 SLC25A28 81894 broad.mit.edu 37 10 101370696 101370696 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:101370696C>T ENST00000370495.4 - 4 1033 c.1005G>A c.(1003-1005)caG>caA p.Q335Q NM_031212.3 NP_112489.3 Q96A46 MFRN2_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 28 335 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1) 11 Colorectal(252;0.234) Epithelial(162;2.57e-10)|all cancers(201;2.01e-08) TGGAGGGGATCTGGTAAATTA 0.507000 22 87 0 0 1 0 0 OR13C2 392376 broad.mit.edu 37 9 107367246 107367246 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr9:107367246G>C ENST00000542196.1 - 1 705 c.663C>G c.(661-663)atC>atG p.I221M NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TGCTCACAATGATTAACGTGT 0.418000 15 112 0 0 1 0 0 VPS28 51160 broad.mit.edu 37 8 145649236 145649236 + Missense_Mutation SNP G G T rs140103128 TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr8:145649236G>T ENST00000292510.4 - 10 707 c.618C>A c.(616-618)ttC>ttA p.F206L VPS28_ENST00000377348.2_3'UTR|VPS28_ENST00000529182.1_3'UTR|VPS28_ENST00000526054.1_Missense_Mutation_p.F206L NM_016208.2 NP_057292.1 Q9UK41 VPS28_HUMAN vacuolar protein sorting 28 homolog (S. cerevisiae) 206 VPS28 C-terminal. cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) ACTCCAGGTCGAACAGCATCT 0.632000 5 74 0.0215528 0.0216205 1 1 0 FHL5 9457 broad.mit.edu 37 6 97053836 97053836 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr6:97053836G>C ENST00000326771.2 + 5 773 c.393G>C c.(391-393)gaG>gaC p.E131D FHL5_ENST00000541107.1_Missense_Mutation_p.E131D NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 131 LIM zinc-binding 2. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) TTGTGTGTGAGAATTGCCGAC 0.418000 3 55 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873354 36873354 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:36873354C>G ENST00000429976.2 - 21 7835 c.7588G>C c.(7588-7590)Gag>Cag p.E2530Q TRANK1_ENST00000428977.2_Missense_Mutation_p.E1980Q|TRANK1_ENST00000301807.6_Missense_Mutation_p.E1980Q NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2530 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 AGGATCTCCTCAGCATTCACT 0.552000 17 125 0 0 1 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39412073 39412073 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:39412073G>A ENST00000394008.1 + 1 438 c.436G>A c.(436-438)Gag>Aag p.E146K NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 146 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CGCCTGCTGTGAGACCACCTG 0.602000 67 238 0 0 1 0 0 KLRG2 346689 broad.mit.edu 37 7 139164512 139164512 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr7:139164512C>G ENST00000340940.4 - 3 935 c.866G>C c.(865-867)aGa>aCa p.R289T KLRG2_ENST00000393039.2_Intron NM_198508.2 NP_940910.1 A4D1S0 KLRG2_HUMAN killer cell lectin-like receptor subfamily G, member 2 289 integral to membrane sugar binding central_nervous_system(1)|large_intestine(2)|lung(3) 6 Melanoma(164;0.233) CTGCTGGCATCTGGCTCCTGC 0.572000 6 34 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33772480 33772480 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:33772480C>G ENST00000285013.6 - 3 495 c.220G>C c.(220-222)Gag>Cag p.E74Q SLFN13_ENST00000533791.1_Missense_Mutation_p.E74Q|SLFN13_ENST00000542635.1_Missense_Mutation_p.E74Q|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000526861.1_Missense_Mutation_p.E74Q|SLFN13_ENST00000534689.1_Intron NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 74 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AGTCCCATCTCTGTGGGACGC 0.453000 32 102 0 0 1 0 0 PIGU 128869 broad.mit.edu 37 20 33222506 33222506 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr20:33222506G>C ENST00000374820.2 - 5 402 c.382C>G c.(382-384)Cct>Gct p.P128A PIGU_ENST00000480175.1_5'UTR|PIGU_ENST00000452740.2_Missense_Mutation_p.P148A Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, class U 148 attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 ATCGTGTAAGGATTTAAGAGA 0.413000 15 71 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114305095 114305095 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr9:114305095G>C ENST00000309235.5 + 6 2038 c.1880G>C c.(1879-1881)aGa>aCa p.R627T ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 627 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 TATCATCAAAGACTTCATTCA 0.398000 14 32 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131520173 131520173 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:131520173G>A ENST00000423981.1 + 2 638 c.528G>A c.(526-528)tcG>tcA p.S176S AMER3_ENST00000321420.4_Silent_p.S176S NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 ACTTGGCCTCGCTGGCGGCCG 0.642000 28 108 0 0 1 0 0 INSIG1 3638 broad.mit.edu 37 7 155094094 155094094 + Missense_Mutation SNP T T C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr7:155094094T>C ENST00000340368.4 + 4 882 c.671T>C c.(670-672)aTc>aCc p.I224T INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Missense_Mutation_p.I72T NM_005542.4 NP_005533.2 O15503 INSI1_HUMAN insulin induced gene 1 224 cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 19 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTACGCTGATCACGCAGTTT 0.423000 12 51 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95603049 95603049 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr12:95603049C>G ENST00000343958.4 - 2 2234 c.2011G>C c.(2011-2013)Gaa>Caa p.E671Q FGD6_ENST00000546711.1_Missense_Mutation_p.E671Q|FGD6_ENST00000549499.1_Missense_Mutation_p.E671Q NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 671 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CAATCACTTTCAATCCCCTTC 0.463000 21 183 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126915699 126915699 + Silent SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:126915699C>G ENST00000398112.1 + 2 411 c.171C>G c.(169-171)ctC>ctG p.L57L NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) ACCTGGCCCTCTGGCCTGTCA 0.602000 5 37 0 0 1 0 0 MED28 80306 broad.mit.edu 37 4 17625233 17625233 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:17625233G>C ENST00000237380.7 + 4 373 c.349G>C c.(349-351)Gaa>Caa p.E117Q NM_025205.3 NP_079481.2 Q9H204 MED28_HUMAN mediator complex subunit 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|membrane|nucleus actin binding lung(6)|skin(2) 8 GGATGTGTCAGAACTAAGGAA 0.443000 9 47 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79759835 79759835 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:79759835G>A ENST00000372371.3 - 19 2657 c.2520C>T c.(2518-2520)tcC>tcT p.S840S NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 840 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GTGTCAAACCGGAATAAAAGC 0.453000 10 50 0 0 1 0 0 ELK3 2004 broad.mit.edu 37 12 96640929 96640929 + Nonsense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr12:96640929C>G ENST00000228741.3 + 3 745 c.419C>G c.(418-420)tCa>tGa p.S140* ELK3_ENST00000552142.1_Intron NM_005230.2 NP_005221.2 P41970 ELK3_HUMAN ELK3, ETS-domain protein (SRF accessory protein 2) 140 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) TACATCCACTCAGGCCTGTAC 0.622000 3 25 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767481 31767481 + Missense_Mutation SNP A A G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:31767481A>G ENST00000240587.4 - 2 3545 c.3218T>C c.(3217-3219)cTg>cCg p.L1073P NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 1073 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGAGACATACAGAAGGTGGTC 0.473000 16 71 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145636476 145636476 + Missense_Mutation SNP T T A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:145636476T>A ENST00000296575.3 + 10 2227 c.1572T>A c.(1570-1572)agT>agA p.S524R NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 524 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TCCAGCAAAGTCCTGTGACAA 0.398000 8 48 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56382207 56382207 + Missense_Mutation SNP A A C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:56382207A>C ENST00000301295.6 + 7 2791 c.2369A>C c.(2368-2370)cAc>cCc p.H790P NLRP4_ENST00000346986.5_Missense_Mutation_p.H734P|NLRP4_ENST00000587891.1_Missense_Mutation_p.H715P NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 790 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GCTTTCTGCCACCTCAGCGAG 0.488000 6 74 0 0 1 0 0 FCGR2B 2213 broad.mit.edu 37 1 161641390 161641390 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:161641390G>C ENST00000367962.4 + 3 469 c.342G>C c.(340-342)caG>caC p.Q114H FCGR2B_ENST00000367961.4_Missense_Mutation_p.Q107H|FCGR2B_ENST00000428605.2_Missense_Mutation_p.Q114H|FCGR2B_ENST00000367960.5_Missense_Mutation_p.Q107H|FCGR2B_ENST00000403078.3_Missense_Mutation_p.Q114H|FCGR2B_ENST00000236937.9_Missense_Mutation_p.Q114H|FCGR2B_ENST00000358671.5_Missense_Mutation_p.Q114H P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) 114 Ig-like C2-type 1. immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity 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) ACACGTGCCAGACTGGCCAGA 0.592000 T ? ALL 36 57 0 0 1 0 0 PRSS48 345062 broad.mit.edu 37 4 152212432 152212432 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:152212432C>G ENST00000455694.2 + 5 816 c.814C>G c.(814-816)Cta>Gta p.L272V PRSS48_ENST00000441586.2_Missense_Mutation_p.L129V|SH3D19_ENST00000604030.1_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 272 proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 AGCCAACAATCTAGACTTCTC 0.443000 18 119 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999841 45999841 + Silent SNP A A G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr21:45999841A>G ENST00000400372.1 - 1 640 c.615T>C c.(613-615)tgT>tgC p.C205C TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 205 22 X 5 AA repeats of C-C-X(3). keratin filament p.C205C(2) endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 AAGCCGGCTGACAGCTAGACT 0.632000 5 344 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21350043 21350043 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr22:21350043C>G ENST00000215739.8 + 17 2310 c.1951C>G c.(1951-1953)Ctg>Gtg p.L651V LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.L632V NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 651 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) AGGCACATCTCTGATCCAGGA 0.607000 37 171 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10421024 10421024 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:10421024C>T ENST00000377086.1 + 39 4295 c.4093C>T c.(4093-4095)Ctg>Ttg p.L1365L KIF1B_ENST00000377081.1_Silent_p.L1365L|KIF1B_ENST00000263934.6_Silent_p.L1319L|KIF1B_ENST00000465635.1_3'UTR O60333 KIF1B_HUMAN kinesin family member 1B 1365 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GGATAGCTCTCTGCATAACTC 0.478000 11 82 0 0 1 0 0 RSRC2 65117 broad.mit.edu 37 12 123001942 123001942 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr12:123001942G>C ENST00000331738.7 - 5 579 c.434C>G c.(433-435)tCt>tGt p.S145C RSRC2_ENST00000354654.2_Missense_Mutation_p.S97C NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 145 Ser-rich. breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) CCTGGATCGAGACTTCTTCCG 0.433000 4 68 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76869397 76869397 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr11:76869397C>T ENST00000409709.3 + 9 1196 c.924C>T c.(922-924)ctC>ctT p.L308L MYO7A_ENST00000458637.2_Silent_p.L308L|MYO7A_ENST00000409893.1_Silent_p.L308L|MYO7A_ENST00000409619.2_Silent_p.L297L NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 308 Myosin head-like. 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 TGAAGGTGCTCATGTTCACTG 0.622000 5 85 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151124030 151124030 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chrX:151124030G>C ENST00000370325.1 - 8 1000 c.947C>G c.(946-948)tCt>tGt p.S316C GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.S316C P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 316 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGTCAGAACAGAGGTGATCCC 0.512000 13 50 0 0 1 0 0 EMR3 84658 broad.mit.edu 37 19 14743786 14743786 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:14743786C>G ENST00000253673.5 - 13 1690 c.1590G>C c.(1588-1590)ttG>ttC p.L530F EMR3_ENST00000443157.2_Missense_Mutation_p.L404F|EMR3_ENST00000344373.4_Missense_Mutation_p.L478F|EMR3_ENST00000599900.1_Missense_Mutation_p.L315F NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 530 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 GTTTTCTTTTCAAAATCCAAA 0.398000 3 31 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38980098 38980098 + Silent SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr6:38980098G>C ENST00000359357.3 + 88 13082 c.12828G>C c.(12826-12828)ctG>ctC p.L4276L DNAH8_ENST00000441566.1_Silent_p.L4240L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GCAGTAGCCTGAGTGATCTAA 0.358000 10 73 0 0 1 0 0 MYL7 58498 broad.mit.edu 37 7 44180381 44180381 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr7:44180381G>A ENST00000458240.1 - 2 330 c.42C>T c.(40-42)ttC>ttT p.F14F MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000223364.3_Silent_p.F41F Q01449 MLRA_HUMAN myosin, light chain 7, regulatory 41 actin filament-based movement|smooth muscle contraction A band|myosin complex ATPase activity, coupled|calcium ion binding|microfilament motor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 12 CGATACAGCTGAAGGCCTGTG 0.637000 4 38 0 0 1 0 0 RCSD1 92241 broad.mit.edu 37 1 167663448 167663448 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:167663448C>T ENST00000367854.3 + 5 714 c.383C>T c.(382-384)cCt>cTt p.P128L RCSD1_ENST00000537350.1_Missense_Mutation_p.P98L NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 128 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CCCAGCAGCCCTGGTGTGCGA 0.587000 11 61 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128327427 128327427 + Silent SNP C C A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:128327427C>A ENST00000389524.4 + 6 587 c.534C>A c.(532-534)atC>atA p.I178I MYO7B_ENST00000409816.2_Silent_p.I178I|MYO7B_ENST00000428314.1_Silent_p.I178I Q6PIF6 MYO7B_HUMAN myosin VIIB 178 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TGGCCACCATCAGTGGCCAGC 0.612000 4 30 0.00909568 0.00918203 1 1 0 ZNF507 22847 broad.mit.edu 37 19 32873699 32873699 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:32873699G>A ENST00000311921.4 + 6 2764 c.2572G>A c.(2572-2574)Gaa>Aaa p.E858K ZNF507_ENST00000544431.1_Missense_Mutation_p.E862K|ZNF507_ENST00000355898.5_Missense_Mutation_p.E858K NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) TGGAAGTTCAGAAAATGCAGT 0.438000 12 58 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74863251 74863251 + Nonsense_Mutation SNP C C A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr9:74863251C>A ENST00000358399.3 + 14 1451 c.1358C>A c.(1357-1359)tCa>tAa p.S453* GDA_ENST00000376986.1_Nonsense_Mutation_p.S375*|GDA_ENST00000545168.1_Nonsense_Mutation_p.S379*|GDA_ENST00000238018.4_Nonsense_Mutation_p.S453*|GDA_ENST00000376989.3_Nonsense_Mutation_p.S392* NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 453 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) TTTTCCAGCTCAGTGTAAGAC 0.443000 16 50 1.5739e-10 1.66802e-10 1 1 0 LHX9 56956 broad.mit.edu 37 1 197889132 197889132 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:197889132G>A ENST00000367390.3 + 3 205 c.178G>A c.(178-180)Gcc>Acc p.A60T LHX9_ENST00000367387.4_Missense_Mutation_p.A69T|LHX9_ENST00000561173.1_Missense_Mutation_p.A75T|LHX9_ENST00000337020.2_Missense_Mutation_p.A69T|LHX9_ENST00000367391.1_Missense_Mutation_p.A60T NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 69 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 GGAGAAGCCCGCCCTGTGCGC 0.642000 15 227 0 0 1 0 0 MMP15 4324 broad.mit.edu 37 16 58071455 58071455 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:58071455C>T ENST00000219271.3 + 2 1027 c.242C>T c.(241-243)tCg>tTg p.S81L NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 81 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 ATCTTGGCCTCGGCCCTTGCA 0.607000 12 131 0 0 1 0 0 C5orf22 55322 broad.mit.edu 37 5 31535873 31535873 + Missense_Mutation SNP A A G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr5:31535873A>G ENST00000325366.9 + 3 377 c.250A>G c.(250-252)Att>Gtt p.I84V C5orf22_ENST00000355907.3_5'UTR NM_018356.2 NP_060826.2 Q49AR2 CE022_HUMAN chromosome 5 open reading frame 22 84 kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1) 18 TGAAAATTGGATTATGCCTGC 0.343000 12 21 0 0 1 0 0 DNAJC10 54431 broad.mit.edu 37 2 183623969 183623969 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:183623969G>C ENST00000264065.7 + 21 2495 c.2080G>C c.(2080-2082)Gat>Cat p.D694H NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 Thioredoxin 4. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TTGGGTGATTGATTTCTATGC 0.398000 7 52 0 0 1 0 0 PRKCI 5584 broad.mit.edu 37 3 169998975 169998975 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:169998975G>C ENST00000295797.4 + 10 1209 c.904G>C c.(904-906)Gag>Cag p.E302Q NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 302 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GGTACAGACAGAGAAGCATGT 0.363000 12 60 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104778723 104778723 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr8:104778723C>T ENST00000406091.3 + 3 656 c.656C>T c.(655-657)tCa>tTa p.S219L NM_001100117.2 NP_001093587.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 250 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AAAAATGGGTCAGGCGTGAAG 0.418000 HNSCC(12;0.0054) 10 43 0 0 1 0 0 NOP2 4839 broad.mit.edu 37 12 6666705 6666705 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr12:6666705C>T ENST00000541778.1 - 16 2369 c.1881G>A c.(1879-1881)aaG>aaA p.K627K NOP2_ENST00000545200.1_3'UTR|NOP2_ENST00000399466.2_Silent_p.K627K|NOP2_ENST00000537442.1_Silent_p.K631K|NOP2_ENST00000322166.5_Silent_p.K631K|NOP2_ENST00000382421.3_Silent_p.K664K|NOP2_ENST00000542015.1_5'UTR P46087 NOP2_HUMAN NOP2 nucleolar protein 631 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 GCTGCTTTGTCTTTGCAGCCC 0.517000 7 52 0 0 1 0 0 TFEC 22797 broad.mit.edu 37 7 115624534 115624534 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr7:115624534G>C ENST00000484212.1 - 4 406 c.232C>G c.(232-234)Cag>Gag p.Q78E TFEC_ENST00000320239.7_5'UTR|TFEC_ENST00000393485.1_5'UTR|TFEC_ENST00000265440.7_5'UTR O14948 TFEC_HUMAN transcription factor EC 0 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) TTCTGTAGCTGAGGCCTTGCA 0.428000 10 51 0 0 1 0 0 FAM110B 90362 broad.mit.edu 37 8 59058879 59058879 + Silent SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr8:59058879G>C ENST00000361488.3 + 5 970 c.90G>C c.(88-90)ctG>ctC p.L30L FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B 30 microtubule organizing center|mitochondrion|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) TGCGCATCCTGAACAAGGGGC 0.657000 4 41 0 0 1 0 0 LILRA3 11026 broad.mit.edu 37 19 54803733 54803733 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:54803733G>A ENST00000391745.1 - 7 458 c.142C>T c.(142-144)Ctc>Ttc p.L48F LILRA3_ENST00000251390.3_Missense_Mutation_p.L31F|LILRA3_ENST00000391744.3_Missense_Mutation_p.L31F leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCAGCCCAGAGGGTGGGCTTG 0.562000 23 108 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26556101 26556101 + Nonsense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr11:26556101C>G ENST00000256737.3 + 9 1820 c.968C>G c.(967-969)tCa>tGa p.S323* ANO3_ENST00000537978.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.S177*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.S307* NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 323 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 AATGGAATATCAAAAGTGGGT 0.318000 4 59 0 0 1 0 0 KIF17 57576 broad.mit.edu 37 1 20991212 20991212 + Missense_Mutation SNP G G T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:20991212G>T ENST00000247986.2 - 15 3265 c.2955C>A c.(2953-2955)aaC>aaA p.N985K KIF17_ENST00000400463.3_Missense_Mutation_p.N984K|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Missense_Mutation_p.N885K Q9P2E2 KIF17_HUMAN kinesin family member 17 985 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TGGCAGAGTTGTTGCTGAGTG 0.622000 7 52 0.00198382 0.00202185 1 1 0 ARNT2 9915 broad.mit.edu 37 15 80767351 80767351 + Splice_Site SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr15:80767351G>A ENST00000533983.1 + 6 715 c.376G>A c.(376-378)Gaa>Aaa p.E126K ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000303329.4_Splice_Site_p.E137K|ARNT2_ENST00000527771.1_Splice_Site_p.E126K Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 137 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) TTCTTTATAGGAACTGAAGCA 0.433000 31 317 0 0 1 0 0 KRIT1 889 broad.mit.edu 37 7 91864941 91864941 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr7:91864941C>T ENST00000394507.1 - 9 1288 c.505G>A c.(505-507)Gca>Aca p.A169T KRIT1_ENST00000394503.2_Missense_Mutation_p.A169T|KRIT1_ENST00000340022.2_Missense_Mutation_p.A169T|KRIT1_ENST00000394505.2_Missense_Mutation_p.A169T|KRIT1_ENST00000412043.2_Missense_Mutation_p.A169T NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 169 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGAGATTGTGCATGACGTTCA 0.368000 9 50 0 0 1 0 0 ELOVL3 83401 broad.mit.edu 37 10 103988841 103988841 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:103988841C>T ENST00000370005.3 + 4 866 c.645C>T c.(643-645)atC>atT p.I215I NM_152310.1 NP_689523.1 Q9HB03 ELOV3_HUMAN ELOVL fatty acid elongase 3 215 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1) 16 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) TAGGAGCCATCGTCAGCATCC 0.512000 4 78 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8770175 8770175 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr20:8770175G>C ENST00000378641.3 + 30 3764 c.3289G>C c.(3289-3291)Gag>Cag p.E1097Q PLCB1_ENST00000378637.2_Missense_Mutation_p.E1097Q|PLCB1_ENST00000338037.6_Missense_Mutation_p.E1097Q NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1097 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity p.E1097*(2) NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GGAGAAGACAGAGATGATCCG 0.393000 29 129 0 0 1 0 0 ACADS 35 broad.mit.edu 37 12 121176981 121176981 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr12:121176981G>A ENST00000242592.4 + 9 1219 c.1068G>A c.(1066-1068)gcG>gcA p.A356A ACADS_ENST00000411593.2_Silent_p.A352A NM_000017.2 NP_000008.1 P16219 ACADS_HUMAN acyl-CoA dehydrogenase, C-2 to C-3 short chain 356 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) CGGAGGCCGCGACCGCCATCA 0.672000 4 58 0 0 1 0 0 TMEM74 157753 broad.mit.edu 37 8 109796439 109796439 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr8:109796439C>G ENST00000297459.3 - 2 1067 c.889G>C c.(889-891)Gag>Cag p.E297Q TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 297 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) GCATCTTCCTCTACCAAGGAC 0.368000 11 57 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178269176 178269176 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:178269176G>A ENST00000448150.3 + 3 1144 c.326G>A c.(325-327)cGa>cAa p.R109Q RASAL2_ENST00000367649.3_Missense_Mutation_p.R127Q|RASAL2_ENST00000465723.1_3'UTR NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 0 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 ACCAAAGGGCGATGCCTGAGG 0.473000 OREG0014010 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 81 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16742736 16742736 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:16742736G>C ENST00000381323.3 - 7 721 c.501C>G c.(499-501)atC>atG p.I167M FAM49A_ENST00000406434.1_Missense_Mutation_p.I167M|FAM49A_ENST00000355549.2_Missense_Mutation_p.I167M NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 167 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) GCATGTTGTTGATGCGGTTGC 0.483000 5 46 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150711256 150711256 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr7:150711256G>A ENST00000297494.3 + 27 3968 c.3611G>A c.(3610-3612)tGa>tAa p.*1204* NOS3_ENST00000461406.1_Silent_p.*998*|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 0 anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) AACAGCCCCTGAGAGCCGCCT 0.677000 4 21 0 0 1 0 0 NEK11 79858 broad.mit.edu 37 3 130748590 130748590 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:130748590G>C ENST00000383366.4 + 3 331 c.38G>C c.(37-39)gGa>gCa p.G13A NEK11_ENST00000510769.1_Missense_Mutation_p.G13A|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000510688.1_Missense_Mutation_p.G13A|NEK11_ENST00000511262.1_Missense_Mutation_p.G13A|NEK11_ENST00000429253.2_Missense_Mutation_p.G13A|NEK11_ENST00000356918.4_Missense_Mutation_p.G13A|NEK11_ENST00000507910.1_Missense_Mutation_p.G13A|NEK11_ENST00000508196.1_Missense_Mutation_p.G13A NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 13 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 TGTGTGAGTGGATCAACAGCC 0.403000 19 89 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179399599 179399599 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:179399599C>G ENST00000367618.3 + 14 1732 c.1345C>G c.(1345-1347)Ctt>Gtt p.L449V AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.L449V NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 449 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 CACTGAAGACCTTGCACTGTT 0.308000 6 51 0 0 1 0 0 FOXK2 3607 broad.mit.edu 37 17 80477932 80477932 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:80477932C>T ENST00000335255.5 + 1 342 c.168C>T c.(166-168)atC>atT p.I56I NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 56 FHA.|Gly-rich. AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion 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 NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) CGGTGACCATCGGCCGCAACT 0.741000 6 51 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56947277 56947277 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:56947277G>A ENST00000438926.2 + 26 3082 c.3053G>A c.(3052-3054)cGa>cAa p.R1018Q SLC12A3_ENST00000262502.5_Missense_Mutation_p.R1008Q|SLC12A3_ENST00000566786.1_Missense_Mutation_p.R1017Q|SLC12A3_ENST00000563236.1_Missense_Mutation_p.R1009Q|SLC12A3_ENST00000563352.1_3'UTR NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 1009 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) ATCCTGATCCGAGGAAACCAG 0.547000 21 96 0 0 1 0 0 LOC154761 154761 broad.mit.edu 37 7 143510032 143510032 + RNA SNP A A G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr7:143510032A>G ENST00000494978.1 - 0 1546 NR_015421.1 AATTTCTCCAACGCTTGGTGG 0.502000 8 41 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23909322 23909322 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr13:23909322C>T ENST00000382298.3 - 10 9281 c.8693G>A c.(8692-8694)cGt>cAt p.R2898H SACS_ENST00000382292.3_Missense_Mutation_p.R2898H|SACS_ENST00000402364.1_Missense_Mutation_p.R2148H NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2898 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding p.R2751H(1)|p.R2898H(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ATTATCATCACGCCACAGGTT 0.418000 10 75 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72831467 72831467 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:72831467G>A ENST00000268489.5 - 9 5786 c.5114C>T c.(5113-5115)tCa>tTa p.S1705L ZFHX3_ENST00000397992.5_Missense_Mutation_p.S791L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1705 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TTTGGGCTCTGAAGGGGAAGC 0.507000 12 72 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53645516 53645516 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:53645516G>C ENST00000452676.2 - 5 994 c.568C>G c.(568-570)Cag>Gag p.Q190E ZNF347_ENST00000601469.2_Missense_Mutation_p.Q190E|ZNF347_ENST00000334197.7_Missense_Mutation_p.Q189E|ZNF347_ENST00000601804.1_Intron NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AGATGTGACTGAAGGCTTAAT 0.368000 13 79 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31918694 31918694 + Missense_Mutation SNP C C A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr6:31918694C>A ENST00000456570.1 + 26 3389 c.3334C>A c.(3334-3336)Cct>Act p.P1112T CFB_ENST00000425368.2_Missense_Mutation_p.P610T|CFB_ENST00000477310.1_Missense_Mutation_p.P961T|CFB_ENST00000556679.1_Missense_Mutation_p.P1112T P00751 CFAB_HUMAN complement factor B 610 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TTTGAGGCTTCCTCCAACTAC 0.522000 8 62 0.00307968 0.00312872 1 1 0 PRKCZ 5590 broad.mit.edu 37 1 2082274 2082274 + Nonsense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:2082274C>T ENST00000400921.2 + 6 867 c.184C>T c.(184-186)Cag>Tag p.Q62* PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Nonsense_Mutation_p.Q62* NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 245 OPR. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) CAAAATCTCTCAGGGGCTTGG 0.532000 22 70 0 0 1 0 0 GYPA 2993 broad.mit.edu 37 4 145035896 145035896 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:145035896G>C ENST00000360771.4 - 6 497 c.382C>G c.(382-384)Ctc>Gtc p.L128V GYPA_ENST00000512789.1_Missense_Mutation_p.L63V|GYPA_ENST00000503627.1_Missense_Mutation_p.L83V|GYPA_ENST00000535709.1_Missense_Mutation_p.L102V|GYPA_ENST00000324022.10_Missense_Mutation_p.L95V|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000504786.1_Missense_Mutation_p.L96V|GYPA_ENST00000512064.1_Missense_Mutation_p.L115V|RP11-673E1.4_ENST00000506982.1_RNA NM_002099.6 NP_002090.4 P02724 GLPA_HUMAN glycophorin A (MNS blood group) 128 interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) GGTGAGGGGAGAGGTTTTACA 0.333000 3 43 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7804636 7804636 + Silent SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:7804636C>G ENST00000380358.4 + 20 3373 c.3372C>G c.(3370-3372)ctC>ctG p.L1124L CHD3_ENST00000330494.7_Silent_p.L1065L|CHD3_ENST00000358181.4_Silent_p.L1065L NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1065 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TCATGCTGCTCCAGAAGATGC 0.552000 6 76 0 0 1 0 0 OVOL1 5017 broad.mit.edu 37 11 65562573 65562573 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr11:65562573C>T ENST00000335987.3 + 4 917 c.565C>T c.(565-567)Ctg>Ttg p.L189L OVOL1_ENST00000532448.1_Silent_p.L127L NM_004561.3 NP_004552.2 O14753 OVOL1_HUMAN ovo-like zinc finger 1 189 transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 READ - Rectum adenocarcinoma(159;0.17) GCGCTGCTCTCTGGAGTCTCA 0.617000 14 66 0 0 1 0 0 DEPDC1 55635 broad.mit.edu 37 1 68955151 68955151 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:68955151C>G ENST00000456315.2 - 3 569 c.455G>C c.(454-456)gGa>gCa p.G152A DEPDC1_ENST00000370966.5_Missense_Mutation_p.G152A NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 152 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) TAAATGTAATCCATGCCTTTT 0.259000 10 52 0 0 1 0 0 LINGO3 645191 broad.mit.edu 37 19 2291482 2291482 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:2291482G>A ENST00000585527.1 - 1 541 c.294C>T c.(292-294)ttC>ttT p.F98F LINGO3_ENST00000404279.1_Silent_p.F98F P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 98 integral to membrane lung(1)|urinary_tract(1) 2 GCAGGTTGGCGAAGGCGCCGG 0.721000 7 21 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71101221 71101221 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:71101221C>G ENST00000393567.2 - 15 2197 c.2047G>C c.(2047-2049)Gag>Cag p.E683Q HYDIN_ENST00000321489.5_Missense_Mutation_p.E683Q|HYDIN_ENST00000448089.2_Missense_Mutation_p.E683Q|HYDIN_ENST00000538248.1_Missense_Mutation_p.E710Q|HYDIN_ENST00000393550.2_Missense_Mutation_p.E698Q|HYDIN_ENST00000541601.1_Missense_Mutation_p.E700Q|HYDIN_ENST00000448691.1_Missense_Mutation_p.E683Q|HYDIN_ENST00000288168.10_Missense_Mutation_p.E700Q NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 683 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GCCAGCACCTCTTCTCCGATG 0.552000 8 55 0 0 1 0 0 MARCH4 57574 broad.mit.edu 37 2 217124196 217124196 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:217124196C>T ENST00000273067.4 - 4 2838 c.1072G>A c.(1072-1074)Gag>Aag p.E358K NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 358 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GGGCCCTGCTCAGGGGCAGGG 0.637000 8 55 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11216141 11216141 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:11216141C>G ENST00000558518.1 + 4 746 c.559C>G c.(559-561)Ctt>Gtt p.L187V LDLR_ENST00000535915.1_Missense_Mutation_p.L146V|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000557933.1_Missense_Mutation_p.L187V|LDLR_ENST00000558013.1_Missense_Mutation_p.L187V|LDLR_ENST00000455727.2_Intron NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 187 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CTGTAGGGGTCTTTACGTGTT 0.637000 13 74 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074451 9074451 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:9074451G>C ENST00000397910.4 - 3 13198 c.12995C>G c.(12994-12996)tCt>tGt p.S4332C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4334 Ser-rich.|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 ATCACCACTAGACACATGGGT 0.483000 4 27 0 0 1 0 0 SELPLG 6404 broad.mit.edu 37 12 109017338 109017338 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr12:109017338G>A ENST00000388962.3 - 3 875 c.716C>T c.(715-717)aCg>aTg p.T239M SELPLG_ENST00000228463.6_Missense_Mutation_p.T265M|SELPLG_ENST00000550948.1_Missense_Mutation_p.T249M NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 249 12 X 10 AA tandem repeats. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 CTGTGCCTCCGTGGCTGTGGG 0.607000 12 117 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86773151 86773151 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chrX:86773151G>C ENST00000373119.4 + 1 400 c.255G>C c.(253-255)caG>caC p.Q85H KLHL4_ENST00000373114.4_Missense_Mutation_p.Q85H NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 85 cytoplasm|microtubule cytoskeleton|nucleolus actin binding p.Q85H(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CTGCCCATCAGAGAGCCGTTC 0.453000 4 23 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9020827 9020827 + Splice_Site SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr12:9020827C>T ENST00000299698.7 + 31 4115 c.3935C>T c.(3934-3936)aCg>aTg p.T1312M A2ML1_ENST00000539547.1_Splice_Site_p.T821M NM_001282424.1|NM_144670.4 NP_001269353.1|NP_653271 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 1156 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TCCTACCAGACGGTGTTGAGA 0.388000 10 104 0 0 1 0 0 PLK4 10733 broad.mit.edu 37 4 128813645 128813645 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:128813645G>A ENST00000270861.5 + 10 2438 c.2164G>A c.(2164-2166)Gat>Aat p.D722N PLK4_ENST00000513090.1_Missense_Mutation_p.D690N|PLK4_ENST00000507249.1_Missense_Mutation_p.D661N|PLK4_ENST00000514379.1_Missense_Mutation_p.D681N|PLK4_ENST00000515069.1_Missense_Mutation_p.D644N NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 722 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 TCCTGGTGCTGATTTTGAGGT 0.323000 7 39 0 0 1 0 0 TCTE3 6991 broad.mit.edu 37 6 170143280 170143280 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr6:170143280C>G ENST00000366774.3 - 3 482 c.382G>C c.(382-384)Gaa>Caa p.E128Q NM_174910.1 NP_777570.1 Q8IZS6 TC1D3_HUMAN t-complex-associated-testis-expressed 3 128 transport cytoplasm|dynein complex|membrane|microtubule motor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1) 4 Breast(66;0.000338) OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157) TCTGCCAATTCAAGTGACAAG 0.294000 7 57 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240458166 240458166 + Nonsense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:240458166C>T ENST00000319653.9 + 8 4428 c.4198C>T c.(4198-4200)Caa>Taa p.Q1400* FMN2_ENST00000545751.1_Intron NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1400 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGAGACCCTTCAAGCTCTCTA 0.353000 11 44 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315509 30315509 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:30315509C>G ENST00000375377.1 - 3 3669 c.3568G>C c.(3568-3570)Gag>Cag p.E1190Q NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1190 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GGCTCAGGCTCAGGGACAGGG 0.537000 43 200 0 0 1 0 0 KCTD4 386618 broad.mit.edu 37 13 45768091 45768091 + Silent SNP A A G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr13:45768091A>G ENST00000405872.1 - 2 1015 c.612T>C c.(610-612)aaT>aaC p.N204N GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000379108.1_Silent_p.N204N NM_198404.2 NP_940686.2 Q8WVF5 KCTD4_HUMAN potassium channel tetramerization domain containing 4 204 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207) GTCGAGTGCCATTTTCAGACT 0.388000 19 101 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179485018 179485018 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:179485018G>A ENST00000589042.1 - 248 46454 c.46230C>T c.(46228-46230)ttC>ttT p.F15410F TTN_ENST00000342175.6_Silent_p.F6537F|TTN_ENST00000591111.1_Silent_p.F13769F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.F6470F|TTN_ENST00000460472.2_Silent_p.F6345F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.F12842F|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13769 Fibronectin type-III 12. 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) GCTGGCAGGAGAAGACAGCGT 0.413000 23 82 0 0 1 0 0 HCN2 610 broad.mit.edu 37 19 603926 603926 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:603926C>T ENST00000251287.2 + 2 1068 c.1015C>T c.(1015-1017)Cgc>Tgc p.R339C NM_001194.3 NP_001185.3 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 2 339 cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity endometrium(5)|lung(4) 9 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GCGGCTGCTGCGCCTCTCACG 0.652000 14 51 0 0 1 0 0 PIGB 9488 broad.mit.edu 37 15 55612551 55612551 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr15:55612551G>C ENST00000164305.5 + 2 533 c.242G>C c.(241-243)aGt>aCt p.S81T PIGB_ENST00000539642.1_Intron NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 81 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) GTGCAGACAAGTTTTGTTCCA 0.343000 5 32 0 0 1 0 0 KRT8 3856 broad.mit.edu 37 12 53292580 53292580 + Missense_Mutation SNP C C A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr12:53292580C>A ENST00000552551.1 - 7 1517 c.1085G>T c.(1084-1086)cGg>cTg p.R362L KRT8_ENST00000552150.1_Missense_Mutation_p.R390L|KRT8_ENST00000546897.1_Missense_Mutation_p.R362L|KRT8_ENST00000293308.6_Missense_Mutation_p.R362L P05787 K2C8_HUMAN keratin 8 362 Coil 2.|Necessary for interaction with PNN.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGCTTGGCCCGCTGCAGGGC 0.637000 4 146 0.150653 0.150653 1 1 0 SRI 6717 broad.mit.edu 37 7 87839446 87839446 + Splice_Site SNP C C A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr7:87839446C>A ENST00000265729.2 - 5 302 c.e5-1 SRI_ENST00000419179.1_Splice_Site|SRI_ENST00000490437.1_Splice_Site|SRI_ENST00000394641.3_Splice_Site|SRI_ENST00000431660.1_Splice_Site NM_003130.3 NP_003121.1 P30626 SORCN_HUMAN sorcin heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction sarcoplasmic reticulum membrane calcium channel regulator activity|calcium ion binding|receptor binding large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(14;0.00202) ACATATCTCTCTGAACTGTAA 0.358000 12 100 2.27111e-07 2.39104e-07 1 1 0 NCK2 8440 broad.mit.edu 37 2 106498419 106498419 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:106498419G>A ENST00000233154.4 + 4 1304 c.862G>A c.(862-864)Ggg>Agg p.G288R NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.G288R NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 288 SH2. axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 GTGGTACTACGGGAACGTGAC 0.687000 5 65 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933034 44933034 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:44933034G>A ENST00000291187.4 - 6 2226 c.1904C>T c.(1903-1905)tCa>tTa p.S635L ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.S641L|CTC-512J12.4_ENST00000588655.1_RNA NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 641 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GAGAAGCCCTGAGCTGTAACT 0.498000 23 129 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145598282 145598282 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:145598282C>T ENST00000334163.3 - 9 1131 c.971G>A c.(970-972)gGa>gAa p.G324E POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.G324E NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 324 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) GCCAGACTTTCCAACAAACTC 0.423000 15 60 0 0 1 0 0 IFT81 28981 broad.mit.edu 37 12 110581233 110581233 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr12:110581233G>A ENST00000242591.5 + 9 1334 c.828G>A c.(826-828)atG>atA p.M276I IFT81_ENST00000552912.1_Missense_Mutation_p.M276I|IFT81_ENST00000549009.1_3'UTR|IFT81_ENST00000361948.4_Missense_Mutation_p.M276I NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 276 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 ATTTATATATGGTAACTGAAA 0.279000 4 17 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375523 113375523 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:113375523G>A ENST00000316407.4 - 7 5416 c.5006C>T c.(5005-5007)tCt>tTt p.S1669F KIAA2018_ENST00000478658.1_Missense_Mutation_p.S1669F|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1669 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TGCCTCAGCAGAATAACTTGA 0.428000 26 88 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59515917 59515917 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr8:59515917C>G ENST00000038176.3 - 13 1109 c.897G>C c.(895-897)gaG>gaC p.E299D NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.E330D NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 299 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) GCATGTAGCTCTCAGCAGTGT 0.557000 32 84 0 0 1 0 0 ABHD10 55347 broad.mit.edu 37 3 111710323 111710323 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:111710323G>A ENST00000273359.3 + 5 703 c.676G>A c.(676-678)Gaa>Aaa p.E226K ABHD10_ENST00000494817.1_3'UTR|ABHD10_ENST00000534857.1_Missense_Mutation_p.E69K NM_018394.2 NP_060864.1 Q9NUJ1 ABHDA_HUMAN abhydrolase domain containing 10 226 mitochondrion serine-type peptidase activity large_intestine(2)|lung(7)|skin(1) 10 TAAAGAAGCTGAACATCACTG 0.408000 28 114 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010559 59010559 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:59010559C>T ENST00000263093.2 - 8 1805 c.1696G>A c.(1696-1698)Gag>Aag p.E566K SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000594786.1_5'UTR|SLC27A5_ENST00000601355.1_Missense_Mutation_p.E482K NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 566 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CCCTCCACCTCGTGCGTGGAC 0.632000 14 70 0 0 1 0 0 ZNF124 7678 broad.mit.edu 37 1 247319961 247319961 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:247319961C>T ENST00000340684.6 - 4 915 c.777G>A c.(775-777)caG>caA p.Q259Q ZNF124_ENST00000543802.2_Silent_p.Q321Q|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron NM_003431.2 NP_003422.2 Q15973 ZN124_HUMAN zinc finger protein 124 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2) 14 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) TGCCACATTTCTGACATTCAT 0.388000 6 72 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55622627 55622627 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:55622627C>T ENST00000294383.6 - 12 1439 c.1440G>A c.(1438-1440)aaG>aaA p.K480K USP24_ENST00000407756.1_Silent_p.K368K NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 480 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CTACCTGTATCTTCCAAATTT 0.383000 15 135 0 0 1 0 0 VIM 7431 broad.mit.edu 37 10 17277884 17277884 + Silent SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:17277884G>C ENST00000544301.1 + 8 1682 c.1269G>C c.(1267-1269)ctG>ctC p.L423L VIM_ENST00000224237.5_Silent_p.L423L NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 423 Tail. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCCTGAACCTGAGGGGTAAGC 0.363000 5 36 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193036819 193036819 + Nonsense_Mutation SNP A A T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:193036819A>T ENST00000342358.4 - 17 2111 c.1994T>A c.(1993-1995)tTa>tAa p.L665* NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 665 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CCCCATCTTTAAGGTTTTGTG 0.502000 11 159 0 0 1 0 0 NXPH2 11249 broad.mit.edu 37 2 139428704 139428704 + Missense_Mutation SNP C C A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:139428704C>A ENST00000272641.3 - 2 689 c.583G>T c.(583-585)Gat>Tat p.D195Y NM_007226.2 NP_009157.1 O95156 NXPH2_HUMAN neurexophilin 2 195 V (Cys-rich). neuropeptide signaling pathway extracellular region endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) TTCGCCCGATCTGTTTTTTCA 0.493000 8 36 0.000157383 0.000161952 1 1 0 STAG1 10274 broad.mit.edu 37 3 136191256 136191256 + Splice_Site SNP G G T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:136191256G>T ENST00000383202.2 - 12 1460 c.1204C>A c.(1204-1206)Cat>Aat p.H402N STAG1_ENST00000434713.2_Splice_Site_p.H176N|STAG1_ENST00000536929.1_Splice_Site_p.Q22K|STAG1_ENST00000236698.5_Splice_Site_p.H402N NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 402 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 ATTACTTACTGAAGTATCAGA 0.289000 9 34 1.12685e-05 1.1709e-05 1 1 0 EEF1D 1936 broad.mit.edu 37 8 144671913 144671913 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr8:144671913C>T ENST00000532741.1 - 1 717 c.489G>A c.(487-489)ctG>ctA p.L163L EEF1D_ENST00000423316.2_Silent_p.L113L|EEF1D_ENST00000442189.2_Silent_p.L113L|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000317198.6_Intron P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 13 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GTGACTTGTCCAGCCACACGC 0.677000 5 39 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26086099 26086099 + Silent SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:26086099G>C ENST00000313735.6 - 26 3395 c.3162C>G c.(3160-3162)gtC>gtG p.V1054V NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 1054 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CCTGAACATAGACCTGAAACC 0.617000 4 16 0 0 1 0 0 LRRC16B 90668 broad.mit.edu 37 14 24530802 24530802 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr14:24530802G>C ENST00000342740.5 + 27 2555 c.2401G>C c.(2401-2403)Gag>Cag p.E801Q LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 801 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) CAATGTGGCGGAGCGTGTCAC 0.597000 8 51 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878003 5878003 + Missense_Mutation SNP C C A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr11:5878003C>A ENST00000537935.1 - 1 961 c.930G>T c.(928-930)agG>agT p.R310S TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGAGAAAAATCCTCAGCACTC 0.433000 17 89 6.49762e-13 6.93224e-13 1 1 0 NUP210L 91181 broad.mit.edu 37 1 154033030 154033030 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:154033030C>G ENST00000368559.3 - 20 2907 c.2836G>C c.(2836-2838)Gaa>Caa p.E946Q NUP210L_ENST00000271854.3_Missense_Mutation_p.E946Q NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 946 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ACAGAGCTTTCTGCTTCCATG 0.423000 22 96 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24886355 24886355 + Silent SNP C C A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr14:24886355C>A ENST00000382554.3 + 9 5718 c.5400C>A c.(5398-5400)ctC>ctA p.L1800L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1800 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 TGCTGGAGCTCCACTGGAGGG 0.597000 7 107 0.000157383 0.000161952 1 1 0 CUBN 8029 broad.mit.edu 37 10 17130311 17130311 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:17130311G>C ENST00000377833.4 - 15 1864 c.1799C>G c.(1798-1800)tCt>tGt p.S600C NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 600 CUB 2. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGACTTAATAGAACCGTAAGG 0.403000 4 56 0 0 1 0 0 ANGPTL3 27329 broad.mit.edu 37 1 63063664 63063664 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:63063664G>C ENST00000371129.3 + 1 507 c.427G>C c.(427-429)Gag>Cag p.E143Q DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron NM_014495.2 NP_055310.1 Q9Y5C1 ANGL3_HUMAN angiopoietin-like 3 143 acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis extracellular space cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1) 13 ATATTTAGAAGAGCAACTAAC 0.308000 11 73 0 0 1 0 0 CRYBA2 1412 broad.mit.edu 37 2 219855638 219855638 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:219855638G>A ENST00000295728.2 - 3 618 c.382C>T c.(382-384)Cca>Tca p.P128S CRYBA2_ENST00000487181.1_5'UTR|CRYBA2_ENST00000392096.2_Missense_Mutation_p.P128S NM_057093.1 NP_476434.1 P53672 CRBA2_HUMAN crystallin, beta A2 128 Beta/gamma crystallin 'Greek key' 3. structural constituent of eye lens endometrium(1)|lung(3)|prostate(1) 5 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCAGGGATGGGTAGTCATCA 0.562000 19 113 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75490905 75490905 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr5:75490905C>T ENST00000502798.2 + 3 1184 c.742C>T c.(742-744)Cgc>Tgc p.R248C SV2C_ENST00000322285.7_Missense_Mutation_p.R248C NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 248 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TCTCTTCTGTCGCTTACTTTC 0.388000 44 182 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198678922 198678922 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:198678922C>T ENST00000367376.2 + 11 1305 c.1134C>T c.(1132-1134)aaC>aaT p.N378N PTPRC_ENST00000348564.6_Silent_p.N219N|PTPRC_ENST00000594404.1_Silent_p.N217N|PTPRC_ENST00000442510.2_Silent_p.N380N|PTPRC_ENST00000352140.3_Silent_p.N330N NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 378 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AGTTTACTAACGCAAGTAAAA 0.269000 7 106 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248367203 248367203 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:248367203C>T ENST00000456743.1 + 1 872 c.834C>T c.(832-834)taC>taT p.Y278Y NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTGTATTCTACACCATCCTCA 0.498000 43 136 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38921528 38921528 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:38921528G>A ENST00000450244.1 - 19 3504 c.3306C>T c.(3304-3306)atC>atT p.I1102I SCN11A_ENST00000444237.2_Silent_p.I1102I|SCN11A_ENST00000302328.3_Silent_p.I1102I|SCN11A_ENST00000456224.3_Silent_p.I1064I Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1102 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CCATCTCCAGGATAAAAATAT 0.348000 7 33 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67314440 67314440 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:67314440G>C ENST00000360461.5 + 1 3028 c.493G>C c.(493-495)Gag>Cag p.E165Q PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E165Q|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E165Q|PLEKHG4_ENST00000450733.1_Intron NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 165 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) AAAGCTGCTGGAGGCAGGTAA 0.567000 23 131 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515911 140515911 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr5:140515911G>A ENST00000231134.5 + 1 1112 c.895G>A c.(895-897)Gaa>Aaa p.E299K NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 299 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAAACAGCAGAAATTCGCCT 0.448000 16 138 0 0 1 0 0 DNTT 1791 broad.mit.edu 37 10 98092126 98092126 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr10:98092126G>C ENST00000419175.1 + 9 1302 c.1132G>C c.(1132-1134)Gac>Cac p.D378H DNTT_ENST00000371174.2_Missense_Mutation_p.D378H NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 378 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) TTTATATTATGACCTTGTGGA 0.368000 7 65 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93606489 93606489 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr9:93606489C>T ENST00000375754.4 + 2 457 c.309C>T c.(307-309)ctC>ctT p.L103L SYK_ENST00000375751.4_Silent_p.L103L|SYK_ENST00000375746.1_Silent_p.L103L|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Silent_p.L103L NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 103 SH2 1. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TCTGCCTCCTCAAGAAGCCCT 0.597000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 8 31 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2778202 2778202 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr18:2778202G>C ENST00000320876.6 + 44 5850 c.5512G>C c.(5512-5514)Gat>Cat p.D1838H SMCHD1_ENST00000261598.8_Missense_Mutation_p.D1838H|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1838 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 CATTATTTTGGATAATCTGGA 0.269000 3 22 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10415240 10415240 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:10415240G>A ENST00000226207.5 - 14 1426 c.1332C>T c.(1330-1332)acC>acT p.T444T RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 444 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGTTGATGCGGGTGACCATCC 0.468000 5 244 0 0 1 0 0 DEK 7913 broad.mit.edu 37 6 18236805 18236805 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr6:18236805C>T ENST00000397239.3 - 9 1372 c.925G>A c.(925-927)Gat>Aat p.D309N DEK_ENST00000244776.7_Missense_Mutation_p.D275N NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 309 Asp/Glu-rich (acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) AAAGGTTCATCATCTGAACTA 0.294000 T NUP214 AML 4 59 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95178092 95178092 + Silent SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr8:95178092G>C ENST00000027335.3 - 10 1303 c.1179C>G c.(1177-1179)ctC>ctG p.L393L CDH17_ENST00000450165.2_Silent_p.L393L|CDH17_ENST00000441892.2_Silent_p.L179L NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 393 Cadherin 4. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GGATTAGGAAGAGTCCATCCA 0.428000 13 51 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73717006 73717006 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:73717006C>T ENST00000264448.6 + 10 8028 c.7917C>T c.(7915-7917)ttC>ttT p.F2639F ALMS1_ENST00000409009.1_Silent_p.F2597F NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2639 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ACTCCCATTTCAAAGTTTGGA 0.433000 16 119 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219507882 219507882 + Silent SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:219507882C>G ENST00000411696.2 - 7 4136 c.3357G>C c.(3355-3357)ctG>ctC p.L1119L ZNF142_ENST00000449707.1_Silent_p.L1119L P52746 ZN142_HUMAN zinc finger protein 142 1119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GGTGAGTCCTCAGAGCCCGTT 0.607000 4 48 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 61548017 61548017 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:61548017C>T ENST00000474889.1 + 1 433 c.56C>T c.(55-57)tCc>tTc p.S19F PTPRG_ENST00000295874.10_Missense_Mutation_p.S19F|PTPRG_ENST00000495879.1_3'UTR NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 19 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ATCACCAGTTCCGTGCTCCAT 0.597000 4 63 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123184055 123184055 + Nonsense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chrX:123184055C>T ENST00000371160.1 + 11 1203 c.913C>T c.(913-915)Cga>Tga p.R305* STAG2_ENST00000371144.3_Nonsense_Mutation_p.R305*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R305*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R236*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R305*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R305* NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 305 SCD. cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding p.R305R(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 AGCTGAAATTCGAGCTATTTG 0.358000 13 36 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142188328 142188328 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:142188328G>A ENST00000350721.4 - 38 6524 c.6403C>T c.(6403-6405)Cca>Tca p.P2135S RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.P2071S NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2135 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 AATTGATATGGAGCTAAATAG 0.363000 Other conserved DNA damage response genes 8 68 0 0 1 0 0 DLK2 65989 broad.mit.edu 37 6 43420842 43420842 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr6:43420842C>T ENST00000357338.3 - 4 872 c.172G>A c.(172-174)Gag>Aag p.E58K DLK2_ENST00000372485.1_Missense_Mutation_p.E58K|DLK2_ENST00000372488.3_Missense_Mutation_p.E58K|DLK2_ENST00000414245.1_Missense_Mutation_p.E58K NM_206539.1 NP_996262.1 Q6UY11 DLK2_HUMAN delta-like 2 homolog (Drosophila) 58 EGF-like 1. integral to membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) ACACAGCGCTCACAGTGCAGC 0.617000 10 41 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713407 142713407 + RNA SNP C C T rs142431664 by1000genomes TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:142713407C>T ENST00000610091.1 - 0 2251 CAGTAAGAAACTCATTCTTAT 0.318000 6 33 0 0 1 0 0 SNX29P2 440352 broad.mit.edu 37 16 29376089 29376089 + RNA SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:29376089C>T ENST00000398878.3 + 0 1517 SNX29P2_ENST00000507381.1_RNA p.S125F(1) GAGCAGAACTCTGGGGACATG 0.453000 4 73 0 0 1 0 0 EXO5 64789 broad.mit.edu 37 1 40981007 40981007 + Missense_Mutation SNP C C A rs143142866 by1000genomes TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:40981007C>A ENST00000372703.1 + 2 1865 c.791C>A c.(790-792)tCt>tAt p.S264Y EXO5_ENST00000358527.2_Missense_Mutation_p.S264Y|EXO5_ENST00000296380.4_Missense_Mutation_p.S264Y exonuclease 5 GGAGGCTTCTCTGTGAAGTCT 0.483000 21 149 0.00121646 0.00124375 1 1 0 DNAH8 1769 broad.mit.edu 37 6 38705721 38705721 + Silent SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr6:38705721G>C ENST00000359357.3 + 5 692 c.438G>C c.(436-438)ctG>ctC p.L146L DNAH8_ENST00000441566.1_Silent_p.L146L|DNAH8_ENST00000449981.2_Silent_p.L363L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGGAAGTGCTGATGGTATGGT 0.403000 17 131 0 0 1 0 0 PHAX 51808 broad.mit.edu 37 5 125953007 125953007 + Missense_Mutation SNP C C G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr5:125953007C>G ENST00000297540.4 + 4 1592 c.897C>G c.(895-897)atC>atG p.I299M NM_032177.3 NP_115553.2 Q9H814 PHAX_HUMAN phosphorylated adaptor for RNA export 299 Necessary for interaction with CBP80 (By similarity).|Sufficient for poly U RNA-binding. ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly Cajal body|cytosol RNA binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 8 CTCCTAGTATCAGCGAGGAAC 0.378000 7 20 0 0 1 0 0 ATP5S 27109 broad.mit.edu 37 14 50788295 50788295 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr14:50788295G>A ENST00000245448.6 + 2 827 c.135G>A c.(133-135)ttG>ttA p.L45L ATP5S_ENST00000554438.1_3'UTR|ATP5S_ENST00000311459.7_Silent_p.L45L|ATP5S_ENST00000426751.2_Silent_p.L45L|ATP5S_ENST00000358473.1_Intron NM_001003805.2 NP_001003805.1 Q99766 ATP5S_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B) 45 ATP biosynthetic process mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1) 12 all_epithelial(31;0.000636)|Breast(41;0.0102) OV - Ovarian serous cystadenocarcinoma(311;0.0685) GGGGCTGGTTGAATGCAGTGT 0.393000 5 39 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211454829 211454829 + Splice_Site SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:211454829G>A ENST00000233072.5 + 8 907 c.e8-1 CPS1_ENST00000430249.2_Splice_Site NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CTCTTTTCCAGCGAGGAGCTG 0.428000 19 155 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51746960 51746960 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr3:51746960G>A ENST00000395052.3 + 3 1156 c.922G>A c.(922-924)Gag>Aag p.E308K GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.E308K NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 308 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GGCAGGCAGTGAGGGGGCTGC 0.637000 11 68 0 0 1 0 0 CABP7 164633 broad.mit.edu 37 22 30125136 30125136 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr22:30125136C>T ENST00000216144.3 + 4 800 c.459C>T c.(457-459)atC>atT p.I153I NM_182527.2 NP_872333.1 Q86V35 CABP7_HUMAN calcium binding protein 7 153 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding lung(1)|skin(3) 4 OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233) TAGAGAACATCATCATGACGG 0.607000 7 40 0 0 1 0 0 PAPOLG 64895 broad.mit.edu 37 2 60995663 60995663 + Missense_Mutation SNP A A G TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:60995663A>G ENST00000238714.3 + 4 554 c.305A>G c.(304-306)tAt>tGt p.Y102C NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 102 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) TTTGGATCCTATAGGCTTGGA 0.343000 16 67 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145096492 145096492 + RNA SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:145096492G>C ENST00000453618.1 + 0 273 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CGGAGGAAGTGAGGACGGCGC 0.607000 3 13 0 0 1 0 0 GFOD1 54438 broad.mit.edu 37 6 13365387 13365387 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr6:13365387G>A ENST00000379287.3 - 2 1425 c.761C>T c.(760-762)tCa>tTa p.S254L GFOD1_ENST00000379284.1_Missense_Mutation_p.S151L NM_018988.3 NP_061861.1 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain containing 1 254 extracellular region binding|oxidoreductase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) GCGCCCGGCTGAGCCCACCAC 0.682000 4 50 0 0 1 0 0 ZNF436 80818 broad.mit.edu 37 1 23694481 23694481 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:23694481G>A ENST00000314011.4 - 2 154 c.18C>T c.(16-18)ctC>ctT p.L6L ZNF436_ENST00000374608.3_Silent_p.L6L NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 6 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) ACCCAGCCATGAGCAGGGTGG 0.602000 15 74 0 0 1 0 0 ETNPPL 64850 broad.mit.edu 37 4 109667937 109667937 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:109667937C>T ENST00000296486.3 - 10 1307 c.1153G>A c.(1153-1155)Gct>Act p.A385T ETNPPL_ENST00000512646.1_Missense_Mutation_p.A327T|ETNPPL_ENST00000411864.2_Missense_Mutation_p.A379T|ETNPPL_ENST00000510706.1_Missense_Mutation_p.A345T NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase ATGTGCTGAGCTTCAGCTGTG 0.493000 24 211 0 0 1 0 0 PLEKHB1 58473 broad.mit.edu 37 11 73372619 73372619 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr11:73372619C>T ENST00000354190.5 + 8 1135 c.704C>T c.(703-705)tCg>tTg p.S235L PLEKHB1_ENST00000398492.4_Missense_Mutation_p.S200L|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.S181L|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.S216L|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.S181L|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.S130L NM_021200.2 NP_067023.1 Q9UF11 PKHB1_HUMAN pleckstrin homology domain containing, family B (evectins) member 1 235 multicellular organismal development|phototransduction cytoplasm|integral to membrane signal transducer activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 7 GCGCTGGGCTCGCTCATGTGG 0.672000 OREG0021217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 129 0 0 1 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3482687 3482687 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:3482687G>C ENST00000324266.5 + 11 2143 c.1948G>C c.(1948-1950)Gat>Cat p.D650H TRAPPC12_ENST00000382110.2_Missense_Mutation_p.D650H NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 650 binding CTTAAGGATGGATCCAAGAAA 0.522000 7 41 0 0 1 0 0 LRFN3 79414 broad.mit.edu 37 19 36430975 36430975 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:36430975G>A ENST00000588831.1 + 3 1702 c.648G>A c.(646-648)ctG>ctA p.L216L LRFN3_ENST00000246529.3_Silent_p.L216L Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 216 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCAACCGCCTGACCACAATCC 0.697000 54 309 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201983060 201983060 + Missense_Mutation SNP C C A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:201983060C>A ENST00000359651.3 + 7 4101 c.909C>A c.(907-909)ttC>ttA p.F303L ELF3_ENST00000367283.3_Missense_Mutation_p.F303L|ELF3_ENST00000367284.5_Missense_Mutation_p.F303L|RP11-510N19.5_ENST00000504773.1_RNA P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 303 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 AAGGCGTCTTCAAGTTCCTGC 0.582000 11 22 0.000673444 0.000690767 1 1 0 FOXK2 3607 broad.mit.edu 37 17 80477941 80477941 + Missense_Mutation SNP C C A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr17:80477941C>A ENST00000335255.5 + 1 351 c.177C>A c.(175-177)aaC>aaA p.N59K NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 59 FHA.|Gly-rich. AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion 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 NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) TCGGCCGCAACTCGTCGCAGG 0.731000 6 49 1.12685e-05 1.1709e-05 1 1 0 LILRA4 23547 broad.mit.edu 37 19 54849231 54849231 + Missense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:54849231C>T ENST00000291759.4 - 4 687 c.631G>A c.(631-633)Gac>Aac p.D211N NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 211 Ig-like C2-type 2. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TGCAGGGGGTCACTGGGTTCC 0.572000 12 48 0 0 1 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55341599 55341599 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:55341599G>A ENST00000391728.4 + 9 1237 c.1204G>A c.(1204-1206)Gat>Aat p.D402N KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CGCACAGTTGGATCACTGCGT 0.512000 6 196 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94138009 94138009 + Nonsense_Mutation SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:94138009C>T ENST00000282020.4 + 6 1168 c.910C>T c.(910-912)Cga>Tga p.R304* GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Nonsense_Mutation_p.R209* NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 304 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TGGCAACCATCGAATATCTTC 0.418000 18 122 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150532591 150532591 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:150532591C>T ENST00000271643.4 + 19 3380 c.3144C>T c.(3142-3144)ctC>ctT p.L1048L ADAMTSL4_ENST00000369039.5_Silent_p.L1071L|ADAMTSL4_ENST00000369038.2_Silent_p.L1048L NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 1048 PLAC. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-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) AGGCCCGGCTCTGCGTCTACC 0.622000 OREG0013787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 117 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41574921 41574921 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr22:41574921G>C ENST00000263253.7 + 31 8425 c.7206G>C c.(7204-7206)ttG>ttC p.L2402F RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 2402 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 ACTCAGACTTGAATTCAAACC 0.428000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 6 83 0 0 1 0 0 BCAP29 55973 broad.mit.edu 37 7 107253856 107253856 + Silent SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr7:107253856G>C ENST00000379119.2 + 6 683 c.669G>C c.(667-669)ctG>ctC p.L223L BCAP29_ENST00000379117.2_Silent_p.L223L|BCAP29_ENST00000465919.1_Silent_p.L129L|BCAP29_ENST00000005259.4_Silent_p.L223L|BCAP29_ENST00000379121.2_Silent_p.L129L|BCAP29_ENST00000445771.2_Silent_p.L223L|BCAP29_ENST00000494086.1_3'UTR NM_001008405.2 NP_001008405.1 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 223 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 ATCAACTCCTGAAAGAACACT 0.353000 3 42 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30893354 30893354 + Missense_Mutation SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr6:30893354G>A ENST00000321897.5 + 27 3451 c.2819G>A c.(2818-2820)gGc>gAc p.G940D VARS2_ENST00000541562.1_Missense_Mutation_p.G970D|VARS2_ENST00000542001.1_Missense_Mutation_p.G800D|VARS2_ENST00000416670.2_Missense_Mutation_p.G940D|VARS2_ENST00000476162.1_3'UTR Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 940 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 GGGGACCAGGGCCTCTTCGAG 0.662000 4 43 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440385 40440385 + Nonsense_Mutation SNP C C A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:40440385C>A ENST00000319592.4 - 4 1235 c.526G>T c.(526-528)Gag>Tag p.E176* RBM47_ENST00000514014.1_Nonsense_Mutation_p.E138*|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Nonsense_Mutation_p.E176*|RBM47_ENST00000295971.7_Nonsense_Mutation_p.E176*|RBM47_ENST00000381795.6_Nonsense_Mutation_p.E176* A0AV96 RBM47_HUMAN RNA binding motif protein 47 176 RRM 2. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 AGCACGCCCTCGGTGACCTTG 0.637000 16 123 3.41278e-10 3.60489e-10 1 1 0 GCNT2 2651 broad.mit.edu 37 6 10529483 10529483 + Silent SNP C C T TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr6:10529483C>T ENST00000379597.3 + 1 895 c.339C>T c.(337-339)ctC>ctT p.L113L GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Silent_p.L113L|GCNT2_ENST00000397423.2_Intron Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 113 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TTGAGAGGCTCTTCAGGGCGA 0.478000 8 90 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73786208 73786208 + Silent SNP G G A TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr2:73786208G>A ENST00000264448.6 + 15 10431 c.10320G>A c.(10318-10320)aaG>aaA p.K3440K ALMS1_ENST00000409009.1_Silent_p.K3398K NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3440 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TCCATAGGAAGAAGACAGTTC 0.458000 13 51 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56177617 56177617 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr5:56177617G>C ENST00000399503.3 + 14 2590 c.2590G>C c.(2590-2592)Gaa>Caa p.E864Q NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 864 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) AGATGAGGTGGAAATTGCCGA 0.483000 17 64 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72830014 72830014 + Missense_Mutation SNP G G C TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr16:72830014G>C ENST00000268489.5 - 9 7239 c.6567C>G c.(6565-6567)atC>atG p.I2189M ZFHX3_ENST00000397992.5_Missense_Mutation_p.I1275M NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2189 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ACCAGTGCTTGATCACTTTCT 0.488000 9 106 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)aagdel p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 7 81 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815895 + RNA DEL A A - rs145239076 TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr4:19815895delA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaa 0.413 5 4 --- --- --- --- BTN2A3P 54718 broad.mit.edu 37 6 26426984 26426984 + RNA DEL T T - rs79308421 TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr6:26426984delT ENST00000466808.2 + 0 1067 GAACCTAGTCTTTTTTTTTTT 0.428 2 4 --- --- --- --- STEAP2-AS1 100874100 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA GGTGCGGGCCTCCCCCTTCCCC 0.639 4 4 --- --- --- --- DLGAP2 9228 broad.mit.edu 37 8 1497653 1497654 + Frame_Shift_Ins INS - - CAACA TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr8:1497653_1497654insCAACA ENST00000421627.2 + 2 928_929 c.794_795insCAACA c.(793-798)agcaacfs p.-266fs NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACCTCCAAGAGCAACAACGACG 0.673 8 131 --- --- --- --- TBC1D4 9882 broad.mit.edu 37 13 75880511 75880511 + Frame_Shift_Del DEL A A - TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr13:75880511delA ENST00000377636.3 - 15 3036 c.2690delT c.(2689-2691)ttgfs p.L898fs TBC1D4_ENST00000425511.1_Intron|TBC1D4_ENST00000431480.2_Frame_Shift_Del_p.L890fs|TBC1D4_ENST00000377625.2_Frame_Shift_Del_p.L835fs NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 898 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GCAGTTTAACAACTTCTTATC 0.328 10 49 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr15:102292874_102292876delCTC ENST00000561463.1 + 0 920_922 AGTTCATCTTCTCAGAGCTGCTG 0.581 4 3 --- --- --- --- PSG6 5675 broad.mit.edu 37 19 43414847 43414847 + Frame_Shift_Del DEL G G - TCGA-R3-A69X-01A-22D-A30E-08 TCGA-R3-A69X-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86025556-b387-4f76-912b-12b08391c53b c86959dc-efa4-4093-83cb-28629b8b35b3 g.chr19:43414847delG ENST00000187910.2 - 3 656 c.591delC c.(589-591)accfs p.T197fs PSG6_ENST00000292125.2_Frame_Shift_Del_p.T197fs|PSG6_ENST00000402603.4_Frame_Shift_Del_p.T197fs NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) GGGTCCTGTTGGTTTTGGACA 0.498 86 402 --- --- --- ---