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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut TTC3 7267 broad.mit.edu 37 21 38555196 38555196 + Missense_Mutation SNP G C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:38555196G>C uc002yvz.3 + 35 4843 c.4738G>C c.(4738-4740)Gtt>Ctt p.V1580L TTC3_uc002ywa.3_Missense_Mutation_p.V1580L|TTC3_uc002ywb.3_Missense_Mutation_p.V1580L|TTC3_uc010gnf.3_Missense_Mutation_p.V1345L|TTC3_uc002ywc.3_Missense_Mutation_p.V1270L|TTC3_uc002ywd.1_Missense_Mutation_p.V644L NM_001001894 NP_003307 P53804 TTC3_HUMAN Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA. 1580 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) AATTAAAAAGGTTTCAAATGC 0.259000 19 8 0 0 0.006214 0 0 PI16 221476 broad.mit.edu 37 6 36929689 36929690 + Nonsense_Mutation DNP CC TT TT TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:36929689_36929690CC>TT uc021yzd.1 + 4 754_755 c.531_532CC>TT c.(529-534)taccag>taTTag p.Q178* PI16_uc003omz.1_Nonsense_Mutation_p.Q178*|PI16_uc003ona.3_Nonsense_Mutation_p.Q178*|PI16_uc011dts.1_5'UTR NM_001199159 NP_001186088 Q6UXB8 PI16_HUMAN Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA. 178 extracellular region|integral to membrane peptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AACGGCCCTACCAGGAGGGGAC 0.634000 74 12 0 0 0.004672 0 0 SLC5A8 160728 broad.mit.edu 37 12 101555774 101555774 + Silent SNP C T T rs137882804 by1000genomes TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:101555774C>T uc001thz.4 - 12 1998 c.1608G>A c.(1606-1608)ggG>ggA p.G536G NM_145913 NP_666018 Q8N695 SC5A8_HUMAN Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA. 536 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGACAAGTATCCCCACTAATA 0.323000 152 32 0 0 0.003755 0 0 ZNF638 27332 broad.mit.edu 37 2 71650395 71650395 + Missense_Mutation SNP A T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:71650395A>T uc002shx.3 + 21 4074 c.3751A>T c.(3751-3753)Att>Ttt p.I1251F ZNF638_uc010yqw.1_Missense_Mutation_p.I830F|ZNF638_uc002shz.3_Missense_Mutation_p.I1251F|ZNF638_uc002shy.3_Missense_Mutation_p.I1251F|ZNF638_uc002sia.3_Missense_Mutation_p.I1251F|ZNF638_uc002sib.1_Intron|ZNF638_uc002sic.3_Missense_Mutation_p.I348F|ZNF638_uc002sid.3_Intron NM_014497 NP_055312 Q14966 ZN638_HUMAN Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA. 1251 Glu-rich. RNA splicing cytoplasm|nuclear speck RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 AGAAGATTTCATTTCTGGAAT 0.368000 37 12 0 0 0.013537 0 0 LRRC6 23639 broad.mit.edu 37 8 133673737 133673737 + Silent SNP G C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:133673737G>C uc003ytk.3 - 1 221 c.147C>G c.(145-147)ctC>ctG p.L49L LRRC6_uc022bbp.1_Silent_p.L49L|LRRC6_uc003ytl.3_Non-coding_Transcript NM_012472 NP_036604 Q86X45 LRRC6_HUMAN Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA. 49 cytoplasm p.L49L(4) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTTGAAGATAGAGAATTTTTA 0.358000 31 8 0 0 0.006214 0 0 COL6A2 1292 broad.mit.edu 37 21 47545524 47545524 + Silent SNP C T T rs150253422 byFrequency TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:47545524C>T uc002zia.1 + 24 2044 c.1962C>T c.(1960-1962)tcC>tcT p.S654S COL6A2_uc002zhz.1_Silent_p.S654S|COL6A2_uc002zhy.1_Silent_p.S654S|COL6A2_uc010gqe.2_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA. 654 Nonhelical region.|VWFA 2. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACCCCAAGTCCGAGACAGGTC 0.632000 23 4 0 0 0.009096 0 0 SASS6 163786 broad.mit.edu 37 1 100550937 100550937 + Missense_Mutation SNP C T T rs148677150 by1000genomes TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:100550937C>T uc001dsu.3 - 16 2062 c.1921G>A c.(1921-1923)Gcg>Acg p.A641T SASS6_uc009wdz.3_Missense_Mutation_p.A474T NM_194292 NP_919268 Q6UVJ0 SAS6_HUMAN Homo sapiens spindle assembly 6 homolog (C. elegans) (SASS6), mRNA. 641 centriole replication centriole breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 19 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) GAGGGGAGCGCTGTGGGTTTG 0.403000 106 47 0 0 0.014410 0 0 DNAH7 56171 broad.mit.edu 37 2 196602695 196602695 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:196602695C>T uc002utj.4 - 64 12126 c.12025G>A c.(12025-12027)Gaa>Aaa p.E4009K DNAH7_uc002uti.4_Missense_Mutation_p.E492K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 4009 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.E4009A(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCCAGTGTTCCTTGGGTTGG 0.443000 27 7 0 0 0.004482 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431786 140431786 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:140431786G>A uc003lik.1 + 0 808 c.731G>A c.(730-732)cGa>cAa p.R244Q NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 244 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGTTCTCGCGACTGGTGTAC 0.597000 23 11 0 0 0.013537 0 0 SLC22A10 387775 broad.mit.edu 37 11 63064897 63064897 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:63064897C>T uc009yor.3 + 2 837 c.629C>T c.(628-630)tCc>tTc p.S210F SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA. 210 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGTTTTTCTTCCATGATCATT 0.398000 46 30 0 0 0.009535 0 0 GGA3 23163 broad.mit.edu 37 17 73237075 73237075 + Missense_Mutation SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:73237075C>G uc002jni.2 - 10 1049 c.1010G>C c.(1009-1011)aGt>aCt p.S337T GGA3_uc002jnk.2_Missense_Mutation_p.S265T|GGA3_uc002jnj.2_Missense_Mutation_p.S304T|GGA3_uc010wry.2_Missense_Mutation_p.S265T|GGA3_uc010wrw.2_Missense_Mutation_p.S215T|GGA3_uc010wrx.2_Missense_Mutation_p.S215T NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA. 337 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) GGAGGACAAACTGTTGGTCGT 0.592000 OREG0024730 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 40 0 0 0.008740 0 0 RYR1 6261 broad.mit.edu 37 19 38983275 38983275 + Splice_Site SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:38983275C>T uc002oit.3 + 38 6404 c.6274_splice c.e38+1 p.R2092_splice RYR1_uc002oiu.3_Splice_Site_p.R2092_splice NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2092 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGAGCAAACCCCGTGAGGACT 0.627000 18 4 0 0 0.009096 0 0 ZNF407 55628 broad.mit.edu 37 18 72344446 72344446 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr18:72344446G>A uc002llw.2 + 0 1524 c.1471G>A c.(1471-1473)Gtg>Atg p.V491M ZNF407_uc010xfc.2_Missense_Mutation_p.V491M|ZNF407_uc010dqu.2_Missense_Mutation_p.V491M|ZNF407_uc002llu.2_Missense_Mutation_p.V490M NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA. 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GAGAGTGTGTGTGACTACCTC 0.552000 57 12 0 0 0.013537 0 0 PCSK2 5126 broad.mit.edu 37 20 17434472 17434472 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr20:17434472C>T uc002wpm.3 + 8 1325 c.971C>T c.(970-972)tCc>tTc p.S324F PCSK2_uc002wpl.3_Missense_Mutation_p.S305F|PCSK2_uc010zrm.2_Missense_Mutation_p.S289F NM_002594 NP_001188457 P16519 NEC2_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA. 324 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGCTACGCCTCCAGCATGTGG 0.637000 46 22 0 0 0.012319 0 0 PGK2 5232 broad.mit.edu 37 6 49754123 49754123 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:49754123C>T uc003ozu.3 - 0 931 c.778G>A c.(778-780)Gaa>Aaa p.E260K NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 260 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GCTCCCTCTTCATCAAACAGG 0.403000 82 22 0 0 0.012319 0 0 GATM 2628 broad.mit.edu 37 15 45660395 45660395 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr15:45660395G>A uc001zvc.3 - 3 877 c.548C>T c.(547-549)cCc>cTc p.P183L GATM_uc001zvb.3_Missense_Mutation_p.P54L|GATM_uc010uev.1_Missense_Mutation_p.P236L NM_001482 NP_001473 P50440 GATM_HUMAN Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA. 183 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) CCATGCCATGGGAGCCTCGAT 0.483000 37 8 0 0 0.003080 0 0 SELP 6403 broad.mit.edu 37 1 169578921 169578921 + Missense_Mutation SNP G A A rs3917742 byFrequency TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:169578921G>A uc001ggi.4 - 7 1219 c.1154C>T c.(1153-1155)tCg>tTg p.S385L SELP_uc001ggh.3_Missense_Mutation_p.S220L|SELP_uc009wvr.3_Missense_Mutation_p.S385L NM_003005 NP_002996 P16109 LYAM3_HUMAN Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA. 385 Sushi 4. S -> L (in dbSNP:rs3917742). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CGGCTCACACGAAATAGCTAA 0.478000 15 6 0 0 0.001168 0 0 CHST7 56548 broad.mit.edu 37 X 46433815 46433815 + Missense_Mutation SNP A T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:46433815A>T uc022bvm.1 + 0 449 c.449A>T c.(448-450)cAg>cTg p.Q150L CHST7_uc004dgt.3_Missense_Mutation_p.Q150L NM_019886 NP_063939 Q9NS84 CHST7_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 (CHST7), mRNA. 150 N-acetylglucosamine metabolic process|chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity|chondroitin 6-sulfotransferase activity breast(3)|endometrium(2)|kidney(1)|lung(2) 8 GAGAGCTTGCAGGGCGCGCTG 0.672000 55 26 0 0 0.008361 0 0 GPR112 139378 broad.mit.edu 37 X 135445670 135445670 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:135445670G>A uc004ezu.1 + 12 7603 c.7312G>A c.(7312-7314)Gaa>Aaa p.E2438K GPR112_uc010nsb.1_Missense_Mutation_p.E2233K NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2438 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATCTCAGTGGGAAAAGCCAAA 0.373000 44 19 0 0 0.010504 0 0 PSG8 440533 broad.mit.edu 37 19 43258474 43258475 + Missense_Mutation DNP GA AC AC TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:43258474_43258475GA>AC uc002ouo.2 - 4 1351_1352 c.1253_1254TC>GT c.(1252-1254)atc>aGT p.I418S PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Intron|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 418 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) AGGATACTGGGATCCGCTTACC 0.485000 348 62 0 0 0.004672 0 0 GABRA2 2555 broad.mit.edu 37 4 46314589 46314589 + Missense_Mutation SNP A T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:46314589A>T uc011bzc.1 - 3 647 c.235T>A c.(235-237)Tca>Aca p.S79T GABRA2_uc003gxc.3_Missense_Mutation_p.S134T|GABRA2_uc010igc.2_Missense_Mutation_p.S134T|GABRA2_uc003gxe.3_Missense_Mutation_p.S134T P47869 GBRA2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA. 134 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGAGCTACTGATTTTTTCCCA 0.348000 76 10 0 0 0.013537 0 0 SAGE1 55511 broad.mit.edu 37 X 134987465 134987465 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:134987465G>A uc004ezh.3 + 4 535 c.368G>A c.(367-369)cGa>cAa p.R123Q SAGE1_uc010nry.1_Missense_Mutation_p.R92Q|SAGE1_uc011mvv.2_Missense_Mutation_p.R123Q NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 123 p.R123R(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GGCCAATCTCGAACTGACAAA 0.468000 65 10 0 0 0.008291 0 0 OR2C1 4993 broad.mit.edu 37 16 3406086 3406086 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:3406086C>T uc002cuw.1 + 0 198 c.146C>T c.(145-147)tCc>tTc p.S49F NM_012368 NP_036500 O95371 OR2C1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA. 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 ATCTTGCTTTCCCGCCTGGAG 0.512000 133 29 0 0 0.010818 0 0 SRCAP 10847 broad.mit.edu 37 16 30749824 30749824 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:30749824C>T uc002dze.1 + 33 8848 c.8463C>T c.(8461-8463)ccC>ccT p.P2821P SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.P2616P NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 2821 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCACTCCACCCCAGCAGCCCT 0.642000 53 25 0 0 0.004656 0 0 NLGN1 22871 broad.mit.edu 37 3 173322668 173322668 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:173322668C>T uc021xhm.1 + 0 600 c.280C>T c.(280-282)Cgt>Tgt p.R94C NLGN1_uc003fio.1_Missense_Mutation_p.R94C|NLGN1_uc010hww.1_Missense_Mutation_p.R94C|NLGN1_uc003fip.1_Missense_Mutation_p.R94C NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN Homo sapiens neuroligin 1 (NLGN1), mRNA. 94 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity p.R93L(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) AGGGGAACGTCGTTTTCAGCC 0.453000 83 46 0 0 0.014410 0 0 EFCAB7 84455 broad.mit.edu 37 1 63998342 63998342 + Splice_Site SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:63998342G>A uc001dbf.3 + 4 694 c.400_splice c.e4-1 p.R134_splice NM_032437 NP_115813 A8K855 EFCB7_HUMAN Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA. 134 EF-hand 1. calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 TTTTTTCAGAGAGGTGAGAAG 0.338000 47 4 0 0 0.009096 0 0 RGS7 6000 broad.mit.edu 37 1 241031915 241031915 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:241031915C>T uc001hyt.2 - 1 131 c.77G>A c.(76-78)aGa>aAa p.R26K RGS7_uc010pyh.2_Missense_Mutation_p.R168K|RGS7_uc010pyj.1_Missense_Mutation_p.R110K|RGS7_uc001hyu.2_Missense_Mutation_p.R194K|RGS7_uc009xgn.1_Missense_Mutation_p.R141K|RGS7_uc001hyv.2_Missense_Mutation_p.R194K|RGS7_uc001hyw.2_Missense_Mutation_p.R194K NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 194 K -> R (in Ref. 3; AAM12645). G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CCAGAACGCTCTCTCTTGGCT 0.483000 54 11 0 0 0.010729 0 0 MKI67 4288 broad.mit.edu 37 10 129903852 129903852 + Missense_Mutation SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:129903852C>G uc001lke.3 - 12 6447 c.6252G>C c.(6250-6252)caG>caC p.Q2084H MKI67_uc001lkf.3_Missense_Mutation_p.Q1724H|MKI67_uc009yav.1_Missense_Mutation_p.Q1659H|MKI67_uc009yaw.1_Missense_Mutation_p.Q1234H NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 2084 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGTCTGGTGTCTGGAAGAGCT 0.488000 156 66 0 0 0.014410 0 0 MXRA5 25878 broad.mit.edu 37 X 3240439 3240439 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:3240439G>A uc004crg.4 - 4 3444 c.3287C>T c.(3286-3288)cCt>cTt p.P1096L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1096 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGTGGAGTCAGGCAAAGTGAT 0.493000 79 9 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179455759 179455759 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:179455759C>T uc021vsy.1 - 252 53214 c.52989G>A c.(52987-52989)ctG>ctA p.L17663L MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L11358L|TTN_uc021vta.1_Silent_p.L11291L|TTN_uc021vtb.1_Silent_p.L11166L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18590 Fibronectin type-III 28. 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) GTGGGATTTTCAGCTTTGTCT 0.443000 141 52 0 0 0.014410 0 0 ATRX 546 broad.mit.edu 37 X 76776955 76776955 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:76776955C>T uc004ecp.4 - 32 7229 c.6997G>A c.(6997-6999)Gaa>Aaa p.E2333K ATRX_uc004ecq.4_Missense_Mutation_p.E2295K|ATRX_uc004eco.4_Missense_Mutation_p.E2118K NM_000489 NP_000480 P46100 ATRX_HUMAN Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. 2333 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ACAACTTTTTCTCTTCCTTGA 0.363000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 38 8 0 0 0.004482 0 0 abParts 0 broad.mit.edu 37 14 107062402 107062402 + RNA SNP G C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:107062402G>C uc021ser.1 - 150 c.6584C>G Parts of antibodies, mostly variable regions. TCCTGGGCCCGACTCCTGCAG 0.597000 52 3 0 0 0.000602 0 0 DIS3L 115752 broad.mit.edu 37 15 66604071 66604071 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr15:66604071G>A uc010ujm.2 + 4 583 c.568G>A c.(568-570)Gac>Aac p.D190N DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.3_Missense_Mutation_p.D107N|DIS3L_uc002apq.2_Missense_Mutation_p.D190N|DIS3L_uc010bho.3_Missense_Mutation_p.D56N NM_001143688 NP_588616 Q8TF46 DI3L1_HUMAN Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like (DIS3L), transcript variant 1, mRNA. 190 rRNA catabolic process cytoplasm|exosome (RNase complex) RNA binding|exonuclease activity|protein binding|ribonuclease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GAATTACCTGGACAATTTCTG 0.443000 80 19 0 0 0.008871 0 0 ITFG1 81533 broad.mit.edu 37 16 47294474 47294474 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:47294474G>A uc002eet.3 - 10 1262 c.1203C>T c.(1201-1203)ttC>ttT p.F401F ITFG1_uc010vgg.2_Silent_p.F146F|ITFG1_uc010vgh.2_Silent_p.F288F NM_030790 NP_110417 Q8TB96 TIP_HUMAN Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA. 401 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) AAATGTCAAAGAAGGTGGCAA 0.423000 51 13 0 0 0.004990 0 0 RADIL 55698 broad.mit.edu 37 7 4874770 4874770 + Missense_Mutation SNP G C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:4874770G>C uc003snj.1 - 3 1057 c.884C>G c.(883-885)cCt>cGt p.P295R RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Missense_Mutation_p.P55R|RADIL_uc011jwd.1_Non-coding_Transcript NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Homo sapiens Ras association and DIL domains (RADIL), mRNA. 295 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GCAGTGTAGAGGCAGGATGTC 0.701000 13 3 0 0 0.004672 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291234 141291234 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:141291234C>T uc022cfj.1 - 0 540 c.540G>A c.(538-540)gtG>gtA p.V180V MAGEC2_uc004fbu.2_Silent_p.V180V NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA. 180 MAGE. cytoplasm|nucleus p.V180L(1) NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TCTTGAGTATCACAGGAAAGT 0.478000 HNSCC(46;0.14) 143 56 0 0 0.014410 0 0 PLAC8 51316 broad.mit.edu 37 4 84026067 84026067 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:84026067C>T uc003hoe.3 - 2 386 c.225G>A c.(223-225)agG>agA p.R75R PLAC8_uc011cco.2_Silent_p.R75R|PLAC8_uc010ijy.3_Non-coding_Transcript|PLAC8_uc010ijz.3_Intron|PLAC8_uc003hod.2_Silent_p.R75R NM_001130716 NP_057703 Q9NZF1 PLAC8_HUMAN Homo sapiens placenta-specific 8 (PLAC8), transcript variant 1, mRNA. 75 large_intestine(2)|lung(3)|ovary(1) 6 Hepatocellular(203;0.114) CATATCGGGTCCTGTAGAGAG 0.433000 59 22 0 0 0.002780 0 0 PTGER2 5732 broad.mit.edu 37 14 52781313 52781313 + Missense_Mutation SNP G C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:52781313G>C uc001wzr.3 + 0 298 c.47G>C c.(46-48)cGa>cCa p.R16P NM_000956 NP_000947 P43116 PE2R2_HUMAN Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA. 16 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) TGCGAGACGCGACAGTGGCTT 0.652000 28 9 0 0 0.006214 0 0 SPG7 6687 broad.mit.edu 37 16 89598917 89598917 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:89598917C>T uc002fnj.3 + 8 1218 c.1197C>T c.(1195-1197)gcC>gcT p.A399A SPG7_uc002fni.3_Silent_p.A399A NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 399 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) AAGCCCGAGCCCGGGCCCCCT 0.597000 50 17 0 0 0.004990 0 0 SFTPB 6439 broad.mit.edu 37 2 85893805 85893805 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:85893805G>A uc002sqj.3 - 4 464 c.364C>T c.(364-366)Ccc>Tcc p.P122S SFTPB_uc002sqi.3_Missense_Mutation_p.P122S|SFTPB_uc002sqh.3_Missense_Mutation_p.P122S NM_000542 NP_942140 P07988 PSPB_HUMAN Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA. 110 Saposin B-type 1. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 TTGCACTGGGGCATGAGCAGC 0.612000 118 28 0 0 0.009535 0 0 FAM13B 51306 broad.mit.edu 37 5 137354780 137354780 + Silent SNP A C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:137354780A>C uc003lbz.2 - 2 555 c.21T>G c.(19-21)ccT>ccG p.P7P FAM13B_uc003lcb.2_Intron|FAM13B_uc003lca.2_Silent_p.P7P NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA. 7 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 TACTCAAGGAAGGGGAGGAGC 0.403000 43 17 0 0 0.007413 0 0 CLCNKA 1187 broad.mit.edu 37 1 16352685 16352685 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:16352685G>A uc001axu.3 + 4 521 c.441G>A c.(439-441)aaG>aaA p.K147K CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Silent_p.K104K|CLCNKA_uc001axv.3_Silent_p.K147K|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank|CLCNKA_uc021ogl.1_5'Flank NM_004070 NP_004061 P51800 CLCKA_HUMAN Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA. 147 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) TTGGGGCCAAGGTGGTGGGCC 0.612000 183 66 0 0 0.014410 0 0 COL6A3 1293 broad.mit.edu 37 2 238285927 238285927 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:238285927G>A uc002vwl.2 - 6 2843 c.2558C>T c.(2557-2559)cCt>cTt p.P853L COL6A3_uc002vwo.2_Missense_Mutation_p.P647L|COL6A3_uc010znj.1_Missense_Mutation_p.P246L|COL6A3_uc002vwq.3_Missense_Mutation_p.P647L|COL6A3_uc002vwr.3_Missense_Mutation_p.P446L|COL6A3_uc010znk.1_Missense_Mutation_p.P653L NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 853 Nonhelical region.|VWFA 5. 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) ACGGACAACAGGGAACTGGCC 0.502000 55 22 0 0 0.014323 0 0 HK2 3099 broad.mit.edu 37 2 75117984 75117984 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:75117984C>T uc002snd.3 + 17 4596 c.2670C>T c.(2668-2670)ttC>ttT p.F890F NM_000189 NP_000180 P52789 HXK2_HUMAN Homo sapiens hexokinase 2 (HK2), mRNA. 890 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity p.F890F(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 ATGTGTCTTTCCTGCAGTCAG 0.552000 149 47 0 0 0.014410 0 0 SF3B1 23451 broad.mit.edu 37 2 198266520 198266520 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:198266520G>A uc002uue.3 - 15 2364 c.2316C>T c.(2314-2316)atC>atT p.I772I NM_012433 NP_036565 O75533 SF3B1_HUMAN Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA. 772 nuclear mRNA splicing, via spliceosome U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) CTCGAATAAGGATTAACATCA 0.348000 Mis myelodysplastic syndrome 57 8 0 0 0.004482 0 0 MAN2B1 4125 broad.mit.edu 37 19 12766548 12766548 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:12766548G>A uc002mub.2 - 13 1866 c.1790C>T c.(1789-1791)cCc>cTc p.P597L MAN2B1_uc010dyv.1_Missense_Mutation_p.P596L NM_000528 NP_000519 O00754 MA2B1_HUMAN Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA. 597 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGATCTTCTGGGGATGGGCTG 0.572000 125 29 0 0 0.003271 0 0 WDR88 126248 broad.mit.edu 37 19 33623254 33623254 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:33623254C>T uc002nui.3 + 0 257 c.179C>T c.(178-180)cCc>cTc p.P60L NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN Homo sapiens WD repeat domain 88 (WDR88), mRNA. 60 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) ACCCTCGACCCCCTGGCCTTG 0.637000 150 24 0 0 0.003954 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973427 29973427 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:29973427G>A uc004dby.2 + 10 2089 c.1581G>A c.(1579-1581)ctG>ctA p.L527L NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA. 527 TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TGGAGGCCCTGAAGCACACCA 0.423000 33 12 0 0 0.010729 0 0 FRMD7 90167 broad.mit.edu 37 X 131212601 131212601 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:131212601G>A uc004ewn.3 - 11 1622 c.1444C>T c.(1444-1446)Cct>Tct p.P482S FRMD7_uc022cdy.1_Missense_Mutation_p.P362S|FRMD7_uc011muy.2_Missense_Mutation_p.P467S NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN Homo sapiens FERM domain containing 7 (FRMD7), mRNA. 482 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) CCTGTACAAGGAATATAGGGC 0.478000 121 49 0 0 0.014410 0 0 CES5A 221223 broad.mit.edu 37 16 55905539 55905539 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:55905539G>A uc021tir.1 - 3 648 c.502C>T c.(502-504)Ccc>Tcc p.P168S CES5A_uc002eip.2_Missense_Mutation_p.P139S|CES5A_uc002eio.2_Missense_Mutation_p.P139S|CES5A_uc002eiq.2_5'UTR|CES5A_uc002eir.2_Missense_Mutation_p.P33S NM_001190158 NP_001177087 Q6NT32 EST5A_HUMAN Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA. 139 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AGCCTTACGGGGAGCTTGGAG 0.562000 26 9 0 0 0.010729 0 0 TNFSF14 8740 broad.mit.edu 37 19 6665054 6665054 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:6665054G>A uc002mfk.2 - 4 988 c.606C>T c.(604-606)ttC>ttT p.F202F TNFSF14_uc002mfj.2_Silent_p.F166F NM_003807 NP_003798 O43557 TNF14_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA. 202 T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding p.S201N(1) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 CACCACCCAGGAAGCTGCTGT 0.652000 22 38 0 0 0.004878 0 0 C4orf21 55345 broad.mit.edu 37 4 113540102 113540102 + Missense_Mutation SNP G T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:113540102G>T uc003iau.3 - 5 1307 c.1096C>A c.(1096-1098)Ctt>Att p.L366I C4orf21_uc003iaw.3_Missense_Mutation_p.L366I NM_018392 NP_060862 Q86YA3 CD021_HUMAN Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA. 366 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) TGTAATGAAAGGTCTTTCAAA 0.368000 64 6 8.12818e-05 9.86341e-05 0.001984 1 0 MPZL2 10205 broad.mit.edu 37 11 118130808 118130808 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:118130808C>T uc001psn.3 - 3 928 c.545G>A c.(544-546)cGa>cAa p.R182Q MPZL2_uc001pso.3_Missense_Mutation_p.R182Q NM_005797 NP_658911 O60487 MPZL2_HUMAN Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA. 182 anatomical structure morphogenesis|homophilic cell adhesion cytoskeleton|integral to membrane endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1) 11 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) TTCGGCCCATCGCTTTTTCCG 0.468000 229 74 0 0 0.014410 0 0 KRT72 140807 broad.mit.edu 37 12 52981545 52981545 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:52981545C>T uc001sar.2 - 6 1266 c.1180G>A c.(1180-1182)Ggc>Agc p.G394S KRT72_uc001saq.2_Missense_Mutation_p.G394S|KRT72_uc010sns.1_Missense_Mutation_p.G352S|KRT72_uc010snt.1_Missense_Mutation_p.G206S NM_001146225 NP_542785 Q14CN4 K2C72_HUMAN Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA. 394 Coil 2.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) TGCAGGGCGCCCTCCAGCTCA 0.657000 63 16 0 0 0.004990 0 0 LOC729862 729862 broad.mit.edu 37 5 28927186 28927186 + RNA SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:28927186G>A uc003jgz.1 + 0 c.210G>A Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA. AAAATTTGAAGAAGGATCTCG 0.448000 16 3 0 0 0.002450 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94670745 94670745 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:94670745G>A uc001dqj.4 - 6 938 c.569C>T c.(568-570)tCc>tTc p.S190F ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.S190F NM_004815 NP_004806 Q52LW3 RHG29_HUMAN Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA. 190 Rho protein signal transduction cytosol Rho GTPase activator activity|metal ion binding NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTCTAAAGGGGAAAAATTTCC 0.338000 15 4 0 0 0.009096 0 0 STAG3 10734 broad.mit.edu 37 7 99799470 99799470 + Missense_Mutation SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:99799470C>G uc003utx.1 + 21 2437 c.2282C>G c.(2281-2283)tCt>tGt p.S761C STAG3_uc010lgs.1_Missense_Mutation_p.S549C|STAG3_uc011kjk.1_Missense_Mutation_p.S703C|GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc003uua.4_3'UTR|STAG3_uc003uub.1_5'UTR NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN Homo sapiens stromal antigen 3 (STAG3), mRNA. 761 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACCCACATTTCTAAATCAGAT 0.448000 69 18 0 0 0.007413 0 0 SLC24A4 123041 broad.mit.edu 37 14 92909750 92909750 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:92909750C>T uc001yak.3 + 6 612 c.589C>T c.(589-591)Cgt>Tgt p.R197C SLC24A4_uc001yai.3_Missense_Mutation_p.R133C|SLC24A4_uc010twm.2_Missense_Mutation_p.R197C|SLC24A4_uc010auj.3_Missense_Mutation_p.R88C|SLC24A4_uc010twn.2_5'UTR NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA. 197 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.S196Y(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GCAGGTGGTCCGTCTGACGTG 0.657000 50 9 0 0 0.008291 0 0 ATG9A 79065 broad.mit.edu 37 2 220087022 220087022 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:220087022G>A uc002vke.1 - 11 2185 c.1999C>T c.(1999-2001)Cgg>Tgg p.R667W ABCB6_uc010fwe.2_5'Flank|ABCB6_uc002vkc.2_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.R667W NM_001077198 NP_076990 Q7Z3C6 ATG9A_HUMAN Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA. 667 autophagic vacuole assembly|protein transport Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGTGAGCCCGGCCTGTGGGC 0.657000 106 28 0 0 0.009535 0 0 abParts 0 broad.mit.edu 37 22 22730670 22730670 + RNA SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr22:22730670C>T uc021wml.1 + 49 c.5476C>T Parts of antibodies, mostly variable regions. ACAGGATATACTGGTACCAGC 0.557000 138 5 0 0 0.013537 0 0 IRF2 3660 broad.mit.edu 37 4 185310022 185310022 + Missense_Mutation SNP A C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:185310022A>C uc003iwf.4 - 8 1140 c.940T>G c.(940-942)Tct>Gct p.S314A NM_002199 NP_002190 P14316 IRF2_HUMAN Homo sapiens interferon regulatory factor 2 (IRF2), mRNA. 314 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) ATGGAGGAAGAAAGGGGGAGG 0.587000 56 9 0 0 0.004482 0 0 MAP3K15 389840 broad.mit.edu 37 X 19390815 19390815 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:19390815C>T uc022btq.1 - 21 3064 c.3064G>A c.(3064-3066)Gag>Aag p.E1022K MAP3K15_uc004czj.2_Missense_Mutation_p.E457K|MAP3K15_uc004czk.2_Missense_Mutation_p.E497K|MAP3K15_uc004czi.2_5'UTR NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA. 1022 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) TGGTTCTGCTCCTCCCAGAGG 0.647000 OREG0019699 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 9 0 0 0.004482 0 0 VSIG1 340547 broad.mit.edu 37 X 107301308 107301308 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:107301308C>T uc011msk.2 + 1 251 c.90C>T c.(88-90)ttC>ttT p.F30F VSIG1_uc004eno.3_Silent_p.F30F NM_001170553 NP_001164024 Q86XK7 VSIG1_HUMAN Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA. 30 Ig-like V-type 1. integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 CAGACGGTTTCGTGAACGTGA 0.428000 52 4 0 0 0.009096 0 0 SEC16B 89866 broad.mit.edu 37 1 177930028 177930028 + Silent SNP A C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:177930028A>C uc001glj.1 - 11 1703 c.837T>G c.(835-837)ccT>ccG p.P279P SEC16B_uc001glk.1_5'UTR|SEC16B_uc001glh.1_Splice_Site|SEC16B_uc001gli.1_Silent_p.P278P|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Silent_p.P279P NM_033127 NP_149118 Q96JE7 SC16B_HUMAN Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA. 278 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 CAGGAACATGAGGGATGTAGA 0.527000 34 10 0 0 0.008291 0 0 SLC6A11 6538 broad.mit.edu 37 3 10960102 10960102 + Missense_Mutation SNP G A A rs141411603 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:10960102G>A uc003bvz.3 + 7 1118 c.1084G>A c.(1084-1086)Gag>Aag p.E362K NM_014229 NP_055044 P48066 S6A11_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA. 362 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.E362K(2) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) TATGGCGTACGAGCAGGGGGT 0.577000 25 10 0 0 0.006214 0 0 COL12A1 1303 broad.mit.edu 37 6 75814981 75814981 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:75814981G>A uc021zbv.1 - 52 8241 c.8206C>T c.(8206-8208)Cca>Tca p.P2736S COL12A1_uc021zbw.1_Missense_Mutation_p.P1572S|COL12A1_uc003phs.3_Missense_Mutation_p.P2736S|COL12A1_uc003pht.3_Missense_Mutation_p.P1572S NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 2736 Nonhelical region (NC3). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CAAGAATTTGGAAAAGCAGGG 0.413000 22 6 0 0 0.001984 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 29 24 0 0 0.003954 0 0 ALG2 85365 broad.mit.edu 37 9 101980896 101980896 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:101980896G>A uc004azf.3 - 1 641 c.571C>T c.(571-573)Ctg>Ttg p.L191L ALG2_uc004azg.3_Silent_p.L98L NM_033087 NP_149078 Q9H553 ALG2_HUMAN Homo sapiens asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) (ALG2), transcript variant 1, mRNA. 191 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in endoplasmic reticulum|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein N-terminus binding|protein anchor|protein heterodimerization activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2) 22 Acute lymphoblastic leukemia(62;0.0559) ATGTGAGACAGGGACTTGAAT 0.468000 57 21 0 0 0.003330 0 0 NDNF 79625 broad.mit.edu 37 4 121957792 121957793 + Missense_Mutation DNP GG AA AA TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:121957792_121957793GG>AA uc003idq.1 - 3 1860_1861 c.1333_1334CC>TT c.(1333-1335)ccc>TTc p.P445F NM_024574 NP_078850 Q8TB73 CD031_HUMAN Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA. 445 Fibronectin type-III 2. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 AGGAAGAGAGGGAAATGACTGC 0.446000 112 15 0 0 0.004672 0 0 POTEE 445582 broad.mit.edu 37 2 132021834 132021834 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:132021834C>T uc002tsn.2 + 14 2858 c.2806C>T c.(2806-2808)Cta>Tta p.L936L PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.L536L|POTEE_uc002tsl.2_Silent_p.L518L|POTEE_uc010fmy.1_Silent_p.L400L NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 936 Actin-like. ATP binding CAGCTCCTCCCTAGAGAAGAG 0.622000 223 20 0 0 0.007413 0 0 SNCAIP 9627 broad.mit.edu 37 5 121739511 121739511 + Silent SNP G A A rs149915358 byFrequency TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:121739511G>A uc003ksw.1 + 2 287 c.81G>A c.(79-81)acG>acA p.T27T SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Silent_p.T27T|SNCAIP_uc003ksy.1_Missense_Mutation_p.R12Q|SNCAIP_uc003ksx.1_Silent_p.T74T|SNCAIP_uc003ksz.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcu.2_Missense_Mutation_p.R12Q|SNCAIP_uc011cwm.1_Missense_Mutation_p.R12Q|SNCAIP_uc003kta.1_Missense_Mutation_p.R10Q|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcx.1_Silent_p.T27T NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 27 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CACTCAAGACGATCCCAGAAC 0.453000 92 31 0 0 0.010818 0 0 NCKAP5 344148 broad.mit.edu 37 2 133543033 133543033 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:133543033G>A uc002ttp.3 - 13 1725 c.1351C>T c.(1351-1353)Ccc>Tcc p.P451S NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 451 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GTTTTGCAGGGGGGATACTCC 0.468000 40 11 0 0 0.008291 0 0 SCAMP5 192683 broad.mit.edu 37 15 75310792 75310792 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr15:75310792G>A uc002azn.2 + 5 640 c.453G>A c.(451-453)acG>acA p.T151T SCAMP5_uc002azl.2_Silent_p.T143T|SCAMP5_uc002azm.2_Silent_p.T143T|SCAMP5_uc002azk.2_Silent_p.T143T|SCAMP5_uc010uly.2_Silent_p.T72T NM_138967 NP_620417 Q8TAC9 SCAM5_HUMAN Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA. 143 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 TCTTCGGAACGAACATTGGCT 0.592000 157 61 0 0 0.014410 0 0 CSMD3 114788 broad.mit.edu 37 8 113668566 113668566 + Nonsense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:113668566G>A uc003ynu.3 - 17 2980 c.2821C>T c.(2821-2823)Cag>Tag p.Q941* CSMD3_uc003yns.3_Nonsense_Mutation_p.Q213*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.Q901*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.Q837* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 941 CUB 5. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGTTCAGTCTGAAATCTAAGA 0.333000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 40 14 0 0 0.004990 0 0 SERPINA4 5267 broad.mit.edu 37 14 95029969 95029969 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:95029969G>A uc010avd.3 + 1 535 c.261G>A c.(259-261)aaG>aaA p.K87K SERPINA4_uc001ydk.3_Silent_p.K50K|SERPINA4_uc001ydl.3_Silent_p.K50K NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 50 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CCAGCCTCAAGATAGCCCCTG 0.562000 85 26 0 0 0.005443 0 0 MYH11 4629 broad.mit.edu 37 16 15851732 15851732 + Missense_Mutation SNP G C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:15851732G>C uc002ddx.3 - 13 1655 c.1548C>G c.(1546-1548)atC>atG p.I516M MYH11_uc002ddv.3_Missense_Mutation_p.I516M|MYH11_uc002ddw.3_Missense_Mutation_p.I509M|MYH11_uc002ddy.3_Missense_Mutation_p.I509M|MYH11_uc010bvg.3_Missense_Mutation_p.I341M|MYH11_uc002dea.1_Missense_Mutation_p.I215M NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 509 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCCCAAAGTCGATGAAGTTCC 0.597000 T CBFB AML 52 15 0 0 0.003163 0 0 SPO11 23626 broad.mit.edu 37 20 55913332 55913332 + Splice_Site SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr20:55913332G>A uc002xye.3 + 9 838 c.745_splice c.e9-1 p.G249_splice MIR5095_uc021wfc.1_Intron|SPO11_uc002xyf.3_Splice_Site_p.G211_splice NM_012444 NP_036576 Q9Y5K1 SPO11_HUMAN Homo sapiens SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (SPO11), transcript variant 1, mRNA. 249 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2) 18 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) TTCCTTTTAGGGAAAGGGAGT 0.338000 Editing and processing nucleases 21 13 0 0 0.001855 0 0 TACC2 10579 broad.mit.edu 37 10 123846376 123846376 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:123846376G>A uc001lfv.3 + 3 4721 c.4361G>A c.(4360-4362)gGg>gAg p.G1454E TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G1454E|TACC2_uc010qtv.2_Missense_Mutation_p.G1454E NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 1454 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTTCTAGATGGGCCTCCAGGA 0.592000 20 6 0 0 0.003080 0 0 PLCB4 5332 broad.mit.edu 37 20 9440420 9440420 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr20:9440420G>A uc021wam.1 + 30 3190 c.3175G>A c.(3175-3177)Gag>Aag p.E1059K PLCB4_uc010gbx.3_Missense_Mutation_p.E1071K|PLCB4_uc021wal.1_Missense_Mutation_p.E1059K|PLCB4_uc002wnh.3_Missense_Mutation_p.E906K NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 1059 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CAATGCCCACGAGCAGCAAAC 0.468000 27 5 0 0 0.000602 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72024626 72024626 + Silent SNP T A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:72024626T>A uc001swo.2 - 16 3938 c.3579A>T c.(3577-3579)acA>acT p.T1193T NM_144982 NP_659419 O60293 ZC3H1_HUMAN Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA. 1193 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CATCATTACATGTTCCTGTTA 0.333000 36 14 0 0 0.002450 0 0 NEU4 129807 broad.mit.edu 37 2 242757595 242757595 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:242757595G>A uc002wcp.2 + 3 1209 c.715G>A c.(715-717)Gcg>Acg p.A239T NEU4_uc010fzr.3_Missense_Mutation_p.A226T|NEU4_uc002wcm.3_Missense_Mutation_p.A226T|NEU4_uc002wco.2_Missense_Mutation_p.A226T|NEU4_uc002wcn.2_Missense_Mutation_p.A238T NM_001167599 NP_001161074 Q8WWR8 NEUR4_HUMAN Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA. 226 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) GTGCCAGCTGGCGGCGGTGGA 0.697000 4 5 0 0 0.001168 0 0 SARDH 1757 broad.mit.edu 37 9 136594959 136594959 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:136594959C>T uc004cep.4 - 5 977 c.843G>A c.(841-843)atG>atA p.M281I SARDH_uc004ceo.3_Missense_Mutation_p.M281I|SARDH_uc011mdo.2_Missense_Mutation_p.M113I|SARDH_uc011mdn.2_Missense_Mutation_p.M281I NM_001134707 NP_009032 Q9UL12 SARDH_HUMAN Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 281 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TGACTCCAGCCATCCGGCCCA 0.637000 54 9 0 0 0.004482 0 0 OR4C16 219428 broad.mit.edu 37 11 55340452 55340452 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:55340452G>A uc010rih.2 + 0 849 c.849G>A c.(847-849)gtG>gtA p.V283V NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA. 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V283V(2) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TCAACCCTGTGATTTACACGC 0.378000 8 5 0 0 0.000602 0 0 abParts 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr22:22664186A>G uc021wml.1 + 31 c.2628A>G abParts_uc011aiq.1_Non-coding_Transcript Parts of antibodies, mostly variable regions. CAGATCAAGAAAGCACTCTGA 0.498000 70 3 0 0 0.004672 0 0 SEMA3E 9723 broad.mit.edu 37 7 83277754 83277754 + Silent SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:83277754C>G uc003uhy.2 - 0 726 c.105G>C c.(103-105)ctG>ctC p.L35L NM_012431 NP_001171600 O15041 SEM3E_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA. 35 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) CTTTATGTGACAGGCGTAACC 0.408000 33 6 0 0 0.001168 0 0 LY9 4063 broad.mit.edu 37 1 160786462 160786462 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:160786462C>T uc001fwu.3 + 4 1201 c.1151C>T c.(1150-1152)tCc>tTc p.S384F LY9_uc001fwv.3_Missense_Mutation_p.S384F|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Missense_Mutation_p.S36F NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 384 Ig-like C2-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CTGACCTGCTCCGTGGAGGAC 0.572000 12 3 0 0 0.009096 0 0 BCORL1 63035 broad.mit.edu 37 X 129154987 129154987 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:129154987G>A uc022cdu.1 + 3 3513 c.3469G>A c.(3469-3471)Gaa>Aaa p.E1157K BCORL1_uc010nrd.1_Missense_Mutation_p.E1059K NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA. 1157 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TGACCCCCAGGAATCCACCAA 0.562000 45 6 0 0 0.001168 0 0 ZNF283 284349 broad.mit.edu 37 19 44352211 44352211 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:44352211C>T uc002oxr.4 + 6 1726 c.1458C>T c.(1456-1458)tcC>tcT p.S486S ZNF283_uc002oxp.4_Silent_p.S347S NM_181845 NP_862828 Q8N7M2 ZN283_HUMAN Homo sapiens zinc finger protein 283 (ZNF283), mRNA. 486 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) GTGAGAAATCCCATGAATGTA 0.403000 144 24 0 0 0.014323 0 0 NCOR2 9612 broad.mit.edu 37 12 124832746 124832746 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:124832746C>T uc021rga.1 - 28 4097 c.3980G>A c.(3979-3981)aGa>aAa p.R1327K NCOR2_uc021rgb.1_Missense_Mutation_p.R1311K|NCOR2_uc010tbb.2_Missense_Mutation_p.R1320K|NCOR2_uc010tbc.2_Missense_Mutation_p.R1310K|NCOR2_uc021rgc.1_Missense_Mutation_p.R1310K|NCOR2_uc010tba.2_Missense_Mutation_p.R1328K|NCOR2_uc001ugj.1_Missense_Mutation_p.R1328K NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 1328 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGAGATGGCTCTGCCCACGCG 0.647000 OREG0022238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 10 0 0 0.013537 0 0 WARS2 10352 broad.mit.edu 37 1 119619093 119619093 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:119619093G>A uc001ehn.3 - 1 256 c.228C>T c.(226-228)ctC>ctT p.L76L WARS2_uc010oxf.2_5'UTR|WARS2_uc001ehm.3_Silent_p.L76L|WARS2_uc010oxg.2_Intron|WARS2_uc010oxh.2_Silent_p.L76L|WARS2_uc010oxi.2_5'UTR NM_015836 NP_056651 Q9UGM6 SYWM_HUMAN Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 76 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity p.D75G(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) TAATGGAGTGGAGGTCAACAA 0.502000 76 16 0 0 0.004007 0 0 ELAVL2 1993 broad.mit.edu 37 9 23762229 23762229 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:23762229C>T uc003zpu.3 - 1 279 c.4G>A c.(4-6)Gaa>Aaa p.E2K ELAVL2_uc003zps.3_Missense_Mutation_p.E2K|ELAVL2_uc003zpt.3_Missense_Mutation_p.E2K|ELAVL2_uc003zpv.3_Missense_Mutation_p.E2K|ELAVL2_uc003zpw.3_Missense_Mutation_p.E2K NM_004432 NP_004423 Q12926 ELAV2_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA. 2 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) AGTTGTGTTTCCATGGCAGCA 0.398000 84 36 0 0 0.003755 0 0 BTN2A1 11120 broad.mit.edu 37 6 26468710 26468710 + Missense_Mutation SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:26468710C>G uc003nib.2 + 7 1765 c.1517C>G c.(1516-1518)gCc>gGc p.A506G BTN2A1_uc021yni.1_Intron|BTN2A1_uc003nic.2_3'UTR|BTN2A1_uc011dko.2_Missense_Mutation_p.A445G NM_007049 NP_001184162 Q7KYR7 BT2A1_HUMAN Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA. 506 B30.2/SPRY. lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 CTCACAGGAGCCAATGGGGTC 0.562000 117 7 0 0 0.003080 0 0 PPP1R2P3 153743 broad.mit.edu 37 5 156277997 156277997 + Missense_Mutation SNP A T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:156277997A>T uc003lwf.1 + 0 449 c.424A>T c.(424-426)Atg>Ttg p.M142L Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA. ACAATTTGAAATGAGAAGGAA 0.398000 40 13 0 0 0.001855 0 0 PCNT 5116 broad.mit.edu 37 21 47786747 47786747 + Missense_Mutation SNP A T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:47786747A>T uc002zji.4 + 14 2965 c.2858A>T c.(2857-2859)cAc>cTc p.H953L PCNT_uc002zjj.3_Missense_Mutation_p.H835L NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 953 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CAGACAAAACACGCTGCCGAC 0.592000 68 18 0 0 0.007413 0 0 RGPD3 653489 broad.mit.edu 37 2 107073477 107073477 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:107073477C>T uc010ywi.1 - 3 412 c.355G>A c.(355-357)Gaa>Aaa p.E119K NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 119 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GCTGCTCTTTCCACCCAGTAT 0.343000 178 45 0 0 0.014410 0 0 DCX 1641 broad.mit.edu 37 X 110653558 110653558 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:110653558C>T uc004epd.3 - 1 484 c.312G>A c.(310-312)atG>atA p.M104I DCX_uc011msv.2_Missense_Mutation_p.M104I|DCX_uc004epe.3_Missense_Mutation_p.M23I|DCX_uc004epf.3_Missense_Mutation_p.M23I|DCX_uc004epg.3_Missense_Mutation_p.M23I NM_000555 NP_835366 O43602 DCX_HUMAN Homo sapiens doublecortin (DCX), transcript variant 1, mRNA. 104 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 GCAACCCATTCATCCGGGAGC 0.502000 92 35 0 0 0.003271 0 0 PHF2P1 266695 broad.mit.edu 37 13 19622160 19622160 + RNA SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr13:19622160C>T uc001umb.1 - 9 c.3651G>A Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA. GCAGGTGCTTCCCCATGTACC 0.542000 52 21 0 0 0.003330 0 0 KLHL24 54800 broad.mit.edu 37 3 183368286 183368286 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:183368286C>T uc003flv.3 + 2 437 c.142C>T c.(142-144)Cat>Tat p.H48Y KLHL24_uc003flw.3_Missense_Mutation_p.H48Y|KLHL24_uc003flx.3_Missense_Mutation_p.H48Y NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA. 48 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) AGGATCATCCCATGCCGAAAA 0.408000 50 29 0 0 0.003271 0 0 COL18A1 80781 broad.mit.edu 37 21 46916433 46916434 + Missense_Mutation DNP GA CC CC TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:46916433_46916434GA>CC uc002zhi.3 + 28 3089_3090 c.3068_3069GA>CC c.(3067-3069)gga>gCC p.G1023A COL18A1_uc002zhg.3_Missense_Mutation_p.G843A NM_030582 NP_085059 P39060 COIA1_HUMAN Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. 1258 Nonhelical region 4 (NC4). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GGCCCCCCAGGACCTCCAGGGC 0.619000 97 15 0 0 0.004672 0 0 TBC1D3B 414059 broad.mit.edu 37 17 34499251 34499251 + Missense_Mutation SNP T A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:34499251T>A uc002hky.2 - 6 610 c.460A>T c.(460-462)Agg>Tgg p.R154W DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank NM_001001417 NP_001001417 A6NDS4 TBC3B_HUMAN Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA. 154 Rab-GAP TBC. intracellular Rab GTPase activator activity endometrium(2)|lung(3)|pancreas(1) 6 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATATGCTTCCTTAATGTCCCG 0.562000 532 56 0 0 0.014410 0 0 TM6SF2 53345 broad.mit.edu 37 19 19381082 19381082 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:19381082C>T uc002nmd.1 - 3 351 c.301G>A c.(301-303)Gag>Aag p.E101K HAPLN4_uc002nmc.3_5'UTR NM_001001524 NP_001001524 Q9BZW4 TM6S2_HUMAN Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA. 101 integral to membrane breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Epithelial(12;0.0151) AGGTATGGCTCTCCCTGTGGG 0.622000 46 15 0 0 0.004990 0 0 BMP3 651 broad.mit.edu 37 4 81974564 81974564 + Silent SNP G A A rs146470758 by1000genomes TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:81974564G>A uc003hmg.4 + 2 1613 c.1293G>A c.(1291-1293)ggG>ggA p.G431G NM_001201 NP_001192 P12645 BMP3_HUMAN Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA. 431 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.G431A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 TCGTTCCTGGGATTCCTGAGC 0.388000 91 31 0 0 0.013726 0 0 MAPK4 5596 broad.mit.edu 37 18 48248339 48248339 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr18:48248339C>T uc002lev.3 + 3 1723 c.723C>T c.(721-723)atC>atT p.I241I MAPK4_uc010xdm.2_Silent_p.I30I|MAPK4_uc010doz.3_Intron NM_002747 NP_002738 P31152 MK04_HUMAN Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA. 241 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) TGCAACTCATCCTGGAGACCA 0.582000 11 6 0 0 0.001168 0 0 TAPBP 6892 broad.mit.edu 37 6 33272288 33272288 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:33272288G>A uc003odx.2 - 4 1342 c.996C>T c.(994-996)ctC>ctT p.L332L TAPBP_uc010jut.2_Silent_p.L245L|TAPBP_uc003odz.3_Silent_p.L332L|TAPBP_uc003ody.3_3'UTR|TAPBP_uc011drc.2_Silent_p.L332L NM_003190 NP_003181 O15533 TPSN_HUMAN Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 1, mRNA. 332 Ig-like C1-type. antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding endometrium(2)|large_intestine(5)|lung(8)|ovary(3) 18 GGCCACCCCGGAGTTCCCACT 0.687000 36 13 0 0 0.002450 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51647745 51647745 + Nonsense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:51647745G>A uc002pvv.1 + 1 585 c.516G>A c.(514-516)tgG>tgA p.W172* SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 172 Ig-like C2-type 1. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CTGTGCCCTGGGCCTGTGAGC 0.637000 108 43 0 0 0.014410 0 0 PLB1 151056 broad.mit.edu 37 2 28854914 28854914 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:28854914C>T uc002rmb.2 + 54 3953 c.3909C>T c.(3907-3909)tcC>tcT p.S1303S PLB1_uc010ezj.2_Silent_p.S1292S|PLB1_uc002rme.2_Silent_p.S268S NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 1303 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) ATGGCATCTCCAGTTTCTCCT 0.557000 56 12 0 0 0.002450 0 0 CLN3 1201 broad.mit.edu 37 16 28493690 28493690 + Missense_Mutation SNP A C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:28493690A>C uc002dpo.3 - 11 1243 c.920T>G c.(919-921)tTt>tGt p.F307C NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.F229C|CLN3_uc002dpm.3_Missense_Mutation_p.F253C|CLN3_uc010vcu.2_Missense_Mutation_p.F207C|CLN3_uc010vcv.2_Missense_Mutation_p.F283C|CLN3_uc002dpp.3_Missense_Mutation_p.F307C|CLN3_uc021tfs.1_Missense_Mutation_p.F154C|CLN3_uc002dpt.1_Missense_Mutation_p.F207C|CLN3_uc002dpq.1_Missense_Mutation_p.F259C|CLN3_uc010bye.1_Missense_Mutation_p.F290C|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.F180C|CLN3_uc002dpu.1_Missense_Mutation_p.F205C|CLN3_uc002dpw.1_Missense_Mutation_p.F154C|CLN3_uc010vcw.1_Missense_Mutation_p.F253C|CLN3_uc002dqa.2_3'UTR|CLN3_uc010vcx.1_3'UTR NM_000086 NP_001035897 Q13286 CLN3_HUMAN Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA. 307 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 GTTCCAGAAAAAGAGGAGTTC 0.612000 22 9 0 0 0.006214 0 0 OR10G3 26533 broad.mit.edu 37 14 22038000 22038000 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:22038000C>T uc010tmb.2 - 0 876 c.876G>A c.(874-876)cgG>cgA p.R292R NM_001005465 NP_001005465 Q8NGC4 O10G3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA. 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) CCTCTTGGTTCCGCAGAGTGT 0.552000 56 17 0 0 0.006122 0 0 CACNA1B 774 broad.mit.edu 37 9 140946639 140946639 + Splice_Site SNP A C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:140946639A>C uc004cog.3 + 25 3952 c.3807_splice c.e25+1 p.K1269_splice CACNA1B_uc022bqn.1_Splice_Site_p.K1269_splice|CACNA1B_uc011mfd.2_Splice_Site_p.K870_splice|CACNA1B_uc004coi.3_Splice_Site_p.K483_splice NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 1269 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCCAAGCTCAAGGTTAGAGCC 0.532000 11 5 0 0 0.001168 0 0 TLR2 7097 broad.mit.edu 37 4 154625113 154625113 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:154625113C>T uc003inq.3 + 2 1273 c.1054C>T c.(1054-1056)Cct>Tct p.P352S TLR2_uc003inr.3_Missense_Mutation_p.P352S|TLR2_uc003ins.3_Missense_Mutation_p.P352S|TLR2_uc021xtl.1_Missense_Mutation_p.P352S NM_003264 NP_003255 O60603 TLR2_HUMAN Homo sapiens toll-like receptor 2 (TLR2), mRNA. 352 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) TTTTCTGGTTCCTTGTTTACT 0.303000 37 14 0 0 0.001855 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124229502 124229502 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:124229502C>T uc001ufr.3 + 12 1836 c.1588C>T c.(1588-1590)Ccc>Tcc p.P530S NM_012463 NP_036595 Q9Y487 VPP2_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA. 530 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) AGGCCCTTATCCCCTTGGCAT 0.537000 42 7 0 0 0.003080 0 0 EPHA4 2043 broad.mit.edu 37 2 222347308 222347308 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:222347308G>A uc002vmq.3 - 4 1124 c.1082C>T c.(1081-1083)tCc>tTc p.S361F EPHA4_uc002vmr.2_Missense_Mutation_p.S361F|EPHA4_uc010zlm.1_Missense_Mutation_p.S302F NM_004438 NP_004429 P54764 EPHA4_HUMAN Homo sapiens EPH receptor A4 (EPHA4), mRNA. 361 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity p.S361F(3) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CACATTATAGGAAATGTCCTG 0.517000 145 33 0 0 0.003755 0 0 SYNE1 23345 broad.mit.edu 37 6 152652612 152652612 + Missense_Mutation SNP G A A rs139490297 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:152652612G>A uc021zhb.1 - 75 13431 c.13208C>T c.(13207-13209)tCg>tTg p.S4403L SYNE1_uc003qot.4_Missense_Mutation_p.S4332L|SYNE1_uc003qou.4_Missense_Mutation_p.S4403L|SYNE1_uc010kiz.3_Missense_Mutation_p.S158L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 4403 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding p.S4403L(3) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTTATAAGCGATTTCAGGAG 0.522000 HNSCC(10;0.0054) 31 15 0 0 0.002450 0 0 SCN3A 6328 broad.mit.edu 37 2 166019313 166019313 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:166019313C>T uc002ucx.3 - 7 1212 c.720G>A c.(718-720)ctG>ctA p.L240L SCN3A_uc002ucy.3_Silent_p.L240L|SCN3A_uc002ucz.3_Silent_p.L240L|SCN3A_uc002uda.1_Silent_p.L109L|SCN3A_uc002udb.1_Silent_p.L109L NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 240 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CCGACTGGATCAGGGCCCCCA 0.458000 68 27 0 0 0.006320 0 0 RAVER2 55225 broad.mit.edu 37 1 65255083 65255083 + Nonsense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:65255083C>T uc001dbt.2 + 2 675 c.628C>T c.(628-630)Caa>Taa p.Q210* RAVER2_uc001dbs.2_Nonsense_Mutation_p.Q331*|RAVER2_uc010opb.2_Nonsense_Mutation_p.Q210* NM_018211 NP_060681 Q9HCJ3 RAVR2_HUMAN Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA. 331 RRM 2. cytoplasm|nucleus RNA binding|nucleotide binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 GCACAGTAATCAAAAGGGCTT 0.368000 24 9 0 0 0.004482 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140174681 140174681 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:140174681C>T uc003lhd.2 + 0 238 c.132C>T c.(130-132)ttC>ttT p.F44F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.F44F|PCDHAC2_uc011czy.2_Silent_p.F44F NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 57 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.L44Q(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGCACCTTCGTGGGCCGCA 0.687000 65 19 0 0 0.008871 0 0 FBXL21 26223 broad.mit.edu 37 5 135272416 135272416 + RNA SNP T G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:135272416T>G uc021ydv.1 + 4 c.615T>G FBXL21_uc003lbc.3_Intron|FBXL21_uc021ydw.1_Non-coding_Transcript|FBXL21_uc021ydx.1_Non-coding_Transcript NM_012159 Q9UKT6 FXL21_HUMAN Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA. rhythmic process ubiquitin ligase complex ubiquitin-protein ligase activity large_intestine(5)|lung(4) 9 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTGGGGGAGTTTGCCTCACCA 0.428000 111 30 0 0 0.004289 0 0 OPRD1 4985 broad.mit.edu 37 1 29189427 29189427 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:29189427G>A uc001brf.1 + 2 993 c.751G>A c.(751-753)Gag>Aag p.E251K NM_000911 NP_000902 P41143 OPRD_HUMAN Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA. 251 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) GGGCTCCAAGGAGAAGGACCG 0.637000 32 5 0 0 0.000602 0 0 SEC14L5 9717 broad.mit.edu 37 16 5053559 5053559 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:5053559C>T uc002cye.2 + 10 1467 c.1287C>T c.(1285-1287)ccC>ccT p.P429P NM_014692 NP_055507 O43304 S14L5_HUMAN Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA. 429 CRAL-TRIO. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GAGTCTTCCCCGTGCTCTGGA 0.637000 31 15 0 0 0.004007 0 0 OR52J3 119679 broad.mit.edu 37 11 5068287 5068287 + Missense_Mutation SNP C A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:5068287C>A uc010qyv.2 + 0 532 c.532C>A c.(532-534)Cat>Aat p.H178N NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA. 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A177D(1) NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CATAATAGCCCATTCCTACTG 0.418000 70 25 3.6726e-16 4.46919e-16 0.003954 1 0 DGCR5 26220 broad.mit.edu 37 22 18979458 18979458 + RNA SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr22:18979458G>A uc021wku.1 + 3 c.639G>A DGCR5_uc002zon.2_Non-coding_Transcript|DGCR5_uc021wkv.1_Non-coding_Transcript Homo sapiens DiGeorge syndrome critical region gene 5 (non-protein coding) (DGCR5), transcript variant 1, non-coding RNA. ATGGAGAAGCGAACCAAGCCT 0.577000 27 13 0 0 0.002450 0 0 EEF1A2 1917 broad.mit.edu 37 20 62126161 62126161 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr20:62126161G>A uc002yfe.1 - 3 784 c.618C>T c.(616-618)ccC>ccT p.P206P NM_001958 NP_001949 Q05639 EF1A2_HUMAN Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA. 206 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CACTCACGTTGGGGGAGGGCT 0.692000 29 4 0 0 0.000602 0 0 CR2 1380 broad.mit.edu 37 1 207644123 207644123 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:207644123G>A uc001hfw.3 + 6 1383 c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K CR2_uc001hfv.3_Missense_Mutation_p.E422K|CR2_uc009xch.3_Missense_Mutation_p.E422K|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA. 422 Sushi 7. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.E422K(2) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TGGGCAAAAGGAAGATAGACA 0.423000 46 12 0 0 0.013537 0 0 N4BP2L1 90634 broad.mit.edu 37 13 32981800 32981800 + Missense_Mutation SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr13:32981800C>G uc001uuc.3 - 1 385 c.289G>C c.(289-291)Gaa>Caa p.E97Q N4BP2L1_uc001uud.3_Missense_Mutation_p.E97Q|N4BP2L1_uc001uuf.3_Missense_Mutation_p.E97Q NM_052818 NP_438169 Q5TBK1 N42L1_HUMAN Homo sapiens NEDD4 binding protein 2-like 1 (N4BP2L1), transcript variant 1, mRNA. 97 cell killing ATP binding large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 Lung SC(185;0.0262) all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171) TGGTTCCATTCATGAGCTTCC 0.443000 48 26 0 0 0.004656 0 0 LRFN2 57497 broad.mit.edu 37 6 40400278 40400278 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:40400278G>A uc003oph.1 - 1 1040 c.575C>T c.(574-576)aCc>aTc p.T192I NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA. 192 cell junction|integral to membrane|postsynaptic membrane p.G191V(1)|p.G191C(1)|p.T192T(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GTCTGCAAAGGTGCCCTCGGC 0.627000 67 12 0 0 0.002450 0 0 DSCAM 1826 broad.mit.edu 37 21 41719724 41719724 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:41719724C>T uc002yyq.1 - 5 1535 c.1083G>A c.(1081-1083)agG>agA p.R361R DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 361 Ig-like C2-type 4. 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 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) TCCCTGTGATCCTCACATTTT 0.512000 242 33 0 0 0.004289 0 0 NPHS1 4868 broad.mit.edu 37 19 36321786 36321786 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:36321786G>A uc002oby.3 - 27 3710 c.3554C>T c.(3553-3555)cCg>cTg p.P1185L NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 1185 Binds to NPHS2. cell adhesion|excretion|muscle organ development integral to plasma membrane p.S1186fs*10(1) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGCTCCAGACGGGGGGTACGT 0.542000 152 29 0 0 0.010818 0 0 C16orf11 146325 broad.mit.edu 37 16 614009 614009 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:614009G>A uc002chk.3 + 1 994 c.715G>A c.(715-717)Gcc>Acc p.A239T NM_145270 NP_660313 P0CG20 CP011_HUMAN Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA. 239 Pro-rich. central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 CCTGGCCTCGGCCAGCCCCCT 0.726000 11 6 0 0 0.001984 0 0 PCLO 27445 broad.mit.edu 37 7 82785402 82785402 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:82785402G>A uc003uhx.2 - 1 844 c.555C>T c.(553-555)tcC>tcT p.S185S PCLO_uc003uhv.2_Silent_p.S185S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 185 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTCTTCCTGGGATGCCTCAG 0.428000 21 22 0 0 0.002780 0 0 CACNA1H 8912 broad.mit.edu 37 16 1261270 1261270 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:1261270C>T uc002cks.3 + 21 4574 c.4326C>T c.(4324-4326)atC>atT p.I1442I CACNA1H_uc002ckt.3_Silent_p.I1442I|CACNA1H_uc002cku.3_Silent_p.I148I|CACNA1H_uc010brj.3_Silent_p.I148I|CACNA1H_uc002ckv.3_Silent_p.I148I NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 1442 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCTTCTTCATCATTTTTGGCA 0.627000 95 23 0 0 0.003755 0 0 SLC22A2 6582 broad.mit.edu 37 6 160679718 160679718 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:160679718G>A uc003qtf.3 - 0 246 c.72C>T c.(70-72)ttC>ttT p.F24F SLC22A2_uc003qth.2_Silent_p.F24F NM_003058 NP_003049 O15244 S22A2_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA. 24 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GAGCCAAGAGGAAAAACATTT 0.622000 53 6 0 0 0.001168 0 0 C5 727 broad.mit.edu 37 9 123789470 123789470 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:123789470C>T uc004bkv.3 - 7 871 c.841G>A c.(841-843)Gaa>Aaa p.E281K C5_uc010mvm.1_Missense_Mutation_p.E281K|C5_uc010mvn.1_Missense_Mutation_p.E281K NM_001735 NP_001726 P01031 CO5_HUMAN Homo sapiens complement component 5 (C5), mRNA. 281 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TGCATCATTTCTTTTTGATCA 0.348000 15 3 0 0 0.004672 0 0 MYF6 4618 broad.mit.edu 37 12 81101508 81101508 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:81101508G>A uc001szf.2 + 0 101 c.10G>A c.(10-12)Gac>Aac p.D4N NM_002469 NP_002460 P23409 MYF6_HUMAN Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA. 4 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 CATGATGATGGACCTTTTTGA 0.468000 80 15 0 0 0.004007 0 0 UGT1A1 54658 broad.mit.edu 37 2 234526369 234526369 + Missense_Mutation SNP T G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:234526369T>G uc002vup.3 + 0 79 c.16T>G c.(16-18)Tgg>Ggg p.W6G UGT1A1_uc010zmv.1_Missense_Mutation_p.W6G NM_019076 NP_061949 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA. 0 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TCGCACAGGGTGGACCAGCCC 0.562000 42 5 0 0 0.001855 0 0 KDM5C 8242 broad.mit.edu 37 X 53223567 53223567 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:53223567G>A uc004drz.3 - 22 4325 c.3792C>T c.(3790-3792)gcC>gcT p.A1264A KDM5C_uc022bxe.1_Silent_p.A1197A|KDM5C_uc004dsa.3_Silent_p.A1263A|AY927613_uc004dsb.1_Intron NM_004187 NP_004178 P41229 KDM5C_HUMAN Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA. 1264 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 GTCTCTGCAGGGCTACCAGCA 0.667000 """N, F, S""" clear cell renal carcinoma 12 9 0 0 0.008291 0 0 AK057473 0 broad.mit.edu 37 17 20805780 20805780 + RNA SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:20805780C>T uc002gyg.1 + 3 c.964C>T AK057473_uc002gyh.1_Non-coding_Transcript Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210. TGCTGGCTTTCGTCTCTGATT 0.537000 20 6 0 0 0.001168 0 0 DENND4B 9909 broad.mit.edu 37 1 153909095 153909095 + Missense_Mutation SNP A G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:153909095A>G uc001fdd.1 - 15 2763 c.2362T>C c.(2362-2364)Tcc>Ccc p.S788P NM_014856 NP_055671 O75064 DEN4B_HUMAN Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA. 788 p.Q788Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGCACTCGGGAGGGTGCCGAC 0.627000 36 4 0 0 0.009096 0 0 TSPAN12 23554 broad.mit.edu 37 7 120480103 120480103 + Missense_Mutation SNP G C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:120480103G>C uc003vjk.3 - 2 501 c.127C>G c.(127-129)Ctc>Gtc p.L43V NM_012338 NP_036470 O95859 TSN12_HUMAN Homo sapiens tetraspanin 12 (TSPAN12), mRNA. 43 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) GTTAAAGTGAGAACATTATTT 0.358000 44 11 0 0 0.008291 0 0 CNNM1 26507 broad.mit.edu 37 10 101124759 101124759 + Splice_Site SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:101124759C>T uc010qpi.2 + 6 2465 c.2176_splice c.e6+1 p.L726_splice CNNM1_uc009xwe.3_Missense_Mutation_p.R726C|CNNM1_uc001kpp.4_Splice_Site_p.L726_splice|CNNM1_uc009xwf.3_Splice_Site_p.L726_splice|CNNM1_uc009xwg.3_Splice_Site_p.L126_splice NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN Homo sapiens cyclin M1 (CNNM1), mRNA. 726 ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) TTCTGTCTTTCGTATGTATCT 0.547000 15 6 0 0 0.001984 0 0 CYP2B6 1555 broad.mit.edu 37 19 41518327 41518327 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:41518327C>T uc002opr.1 + 6 1096 c.1089C>T c.(1087-1089)ctC>ctT p.L363L CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Silent_p.L163L NM_000767 NP_000758 P20813 CP2B6_HUMAN Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA. 363 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CCGACCTTCTCCCCATGGGTG 0.547000 66 14 0 0 0.002450 0 0 COL4A1 1282 broad.mit.edu 37 13 110850886 110850886 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr13:110850886C>T uc001vqw.4 - 20 1335 c.1213G>A c.(1213-1215)Gga>Aga p.G405R NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 405 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCACTTGGTCCTGGCAGAGAT 0.592000 53 20 0 0 0.008871 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14439208 14439208 + RNA SNP A G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:14439208A>G uc002yja.4 + 9 c.2726A>G Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. AAGAGAAGAAATGCCAATATA 0.299000 39 10 0 0 0.010729 0 0 CD22 933 broad.mit.edu 37 19 35827052 35827052 + Missense_Mutation SNP T G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:35827052T>G uc010edt.3 + 3 610 c.526T>G c.(526-528)Tgg>Ggg p.W176G CD22_uc010edu.3_Missense_Mutation_p.W176G|CD22_uc010edv.3_Missense_Mutation_p.W176G|CD22_uc002nzb.4_Missense_Mutation_p.W176G|CD22_uc010xst.2_Splice_Site_p.W4_splice|CD22_uc010edx.3_5'Flank NM_001771 NP_001762 P20273 CD22_HUMAN Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA. 176 Ig-like C2-type 1. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CCAATTGCAGTGGCTCCTAGA 0.537000 77 66 0 0 0.014410 0 0 USP54 159195 broad.mit.edu 37 10 75286500 75286500 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:75286500G>A uc001juo.3 - 13 2116 c.2099C>T c.(2098-2100)tCc>tTc p.S700F USP54_uc010qkk.2_5'Flank|USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Missense_Mutation_p.S700F NM_152586 NP_689799 Q70EL1 UBP54_HUMAN Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA. 700 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) ATGACGCCAGGAAGGAACCAA 0.493000 34 14 0 0 0.002450 0 0 PREX1 57580 broad.mit.edu 37 20 47267975 47267975 + Missense_Mutation SNP T C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr20:47267975T>C uc002xtw.1 - 21 2637 c.2614A>G c.(2614-2616)Aag>Gag p.K872E PREX1_uc002xtv.1_Missense_Mutation_p.K169E NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA. 872 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TCCACGATCTTCTCCAGCACA 0.627000 48 21 0 0 0.014323 0 0 XIRP2 129446 broad.mit.edu 37 2 168101989 168101989 + Missense_Mutation SNP A C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:168101989A>C uc002udx.3 + 8 4176 c.4087A>C c.(4087-4089)Aat>Cat p.N1363H XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.N1188H|XIRP2_uc010fpq.3_Missense_Mutation_p.N1141H|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1188 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGACTCTATTAATAAATCAGA 0.368000 19 6 0 0 0.004482 0 0 ACAN 176 broad.mit.edu 37 15 89402335 89402335 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr15:89402335C>T uc010upo.1 + 11 6893 c.6519C>T c.(6517-6519)acC>acT p.T2173T ACAN_uc010upp.1_Silent_p.T2173T|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 2173 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AATCCACCACCACCAGTGATG 0.582000 80 23 0 0 0.012319 0 0 ZNF366 167465 broad.mit.edu 37 5 71756366 71756366 + Nonsense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:71756366G>A uc003kce.1 - 1 1144 c.958C>T c.(958-960)Cag>Tag p.Q320* NM_152625 NP_689838 Q8N895 ZN366_HUMAN Homo sapiens zinc finger protein 366 (ZNF366), mRNA. 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TGGCTGGTCTGGGTGAAGGCC 0.647000 28 6 0 0 0.001984 0 0 CYP4B1 1580 broad.mit.edu 37 1 47279916 47279916 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:47279916G>A uc001cqn.4 + 6 895 c.811G>A c.(811-813)Gat>Aat p.D271N CYP4B1_uc009vyl.1_Missense_Mutation_p.D107N|CYP4B1_uc001cqm.4_Missense_Mutation_p.D270N|CYP4B1_uc009vym.3_Missense_Mutation_p.D256N|CYP4B1_uc010omk.2_Missense_Mutation_p.D107N|CYP4B1_uc010oml.1_Missense_Mutation_p.D108N NM_001099772 NP_001093242 P13584 CP4B1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA. 270 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.E271*(1) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) AGCCCTGCAGGATGAGAAGGT 0.577000 27 5 0 0 0.001168 0 0 MAP7D3 79649 broad.mit.edu 37 X 135328301 135328301 + Missense_Mutation SNP T G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:135328301T>G uc004ezt.3 - 2 397 c.176A>C c.(175-177)gAt>gCt p.D59A MAP7D3_uc004ezs.3_Missense_Mutation_p.D59A|MAP7D3_uc011mwc.2_Missense_Mutation_p.D41A|MAP7D3_uc010nsa.2_Missense_Mutation_p.D58A NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA. 59 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) CATGGATCCATCGATTACTAA 0.299000 64 15 0 0 0.003163 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261995 125261995 + Nonsense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:125261995C>T uc010flu.3 + 7 1553 c.1189C>T c.(1189-1191)Cga>Tga p.R397* CNTNAP5_uc002tno.3_Nonsense_Mutation_p.R396* NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 396 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding p.T397T(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TTTCCAGTTTCGAACATGGAA 0.552000 66 20 0 0 0.014323 0 0 TFAP2D 83741 broad.mit.edu 37 6 50740509 50740509 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:50740509G>A uc003paf.3 + 7 1803 c.1291G>A c.(1291-1293)Gag>Aag p.E431K TFAP2D_uc011dwt.2_Non-coding_Transcript NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA. 431 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TGCCAACTCGGAGAAAGCTCC 0.478000 18 4 0 0 0.001984 0 0 ORC1 4998 broad.mit.edu 37 1 52859236 52859236 + Nonsense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:52859236G>A uc001ctt.3 - 5 1192 c.961C>T c.(961-963)Cga>Tga p.R321* ORC1_uc010oni.2_Nonsense_Mutation_p.R321*|ORC1_uc001ctu.3_Nonsense_Mutation_p.R321* NM_004153 NP_004144 Q13415 ORC1_HUMAN Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA. 321 DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GCTGCAATTCGGGTTCTCAGG 0.478000 105 16 0 0 0.007413 0 0 C2orf71 388939 broad.mit.edu 37 2 29295441 29295441 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:29295441C>T uc002rmt.2 - 0 1687 c.1687G>A c.(1687-1689)Gac>Aac p.D563N NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 563 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TCAGACCAGTCCTGGTGCCCA 0.597000 47 15 0 0 0.006122 0 0 LTBP4 8425 broad.mit.edu 37 19 41113436 41113436 + Splice_Site SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:41113436G>A uc002ooh.1 + 10 1357 c.1357_splice c.e10+1 p.E453_splice LTBP4_uc002oog.1_Splice_Site_p.E416_splice|LTBP4_uc002ooi.1_Splice_Site_p.E386_splice|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA. 453 TB 2. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTCGGCTCAGGTGAGCCCCTG 0.647000 8 8 0 0 0.003080 0 0 ZNF462 58499 broad.mit.edu 37 9 109688887 109688887 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:109688887C>T uc004bcz.3 + 2 2983 c.2694C>T c.(2692-2694)ttC>ttT p.F898F MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.F746F|ZNF462_uc004bda.3_Silent_p.F746F NM_021224 NP_067047 Q96JM2 ZN462_HUMAN Homo sapiens zinc finger protein 462 (ZNF462), mRNA. 898 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ACACCAACTTCGAAGATCTCC 0.468000 59 24 0 0 0.002780 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48808304 48808304 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:48808304G>A uc002rwp.2 + 1 646 c.532G>A c.(532-534)Gag>Aag p.E178K STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E178K|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.E178K|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.E178K|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E178K NM_172311 NP_758515 B7ZL16 B7ZL16_HUMAN Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. 178 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTATTTTCGAGAGGACTGTGC 0.433000 40 6 0 0 0.001984 0 0 OR8B2 26595 broad.mit.edu 37 11 124252384 124252384 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:124252384G>A uc010sai.2 - 0 856 c.856C>T c.(856-858)Ccc>Tcc p.P286S NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA. 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TAGATGAGGGGATTGAGCATG 0.383000 49 19 0 0 0.007413 0 0 SAMSN1 64092 broad.mit.edu 37 21 15858413 15858413 + Silent SNP T C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:15858413T>C uc002yju.1 - 7 1024 c.942A>G c.(940-942)gaA>gaG p.E314E SAMSN1_uc010gky.1_Silent_p.E146E|SAMSN1_uc002yjv.1_Silent_p.E382E NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA. 314 negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GGGGCTCAGGTTCATTTTCTT 0.388000 22 11 0 0 0.013537 0 0 TET1 80312 broad.mit.edu 37 10 70451265 70451265 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:70451265C>T uc001jok.4 + 11 6610 c.6105C>T c.(6103-6105)caC>caT p.H2035H NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 2035 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CTGTTGAGCACCCCAACCGTA 0.502000 42 23 0 0 0.014323 0 0 TRIM55 84675 broad.mit.edu 37 8 67066388 67066388 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:67066388G>A uc003xvv.3 + 8 1569 c.1343G>A c.(1342-1344)gGc>gAc p.G448D TRIM55_uc003xvu.3_Missense_Mutation_p.G448D|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 448 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TGGTATAAAGGCCAAACCCGG 0.552000 44 16 0 0 0.004007 0 0 MST1P9 11223 broad.mit.edu 37 1 17084276 17084276 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:17084276C>T uc010ock.2 - 12 1741 c.1741G>A c.(1741-1743)Gag>Aag p.E581K CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.E181K Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 CCTGCAATCTCACACTTGGTC 0.587000 404 34 0 0 0.006999 0 0 TMED4 222068 broad.mit.edu 37 7 44620740 44620740 + Missense_Mutation SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:44620740C>G uc003tli.3 - 3 508 c.486G>C c.(484-486)caG>caC p.Q162H TMED4_uc003tlj.3_Missense_Mutation_p.Q103H|TMED4_uc003tlk.3_Missense_Mutation_p.Q162H|DQ574505_uc003tll.3_5'Flank NM_182547 NP_872353 Q7Z7H5 TMED4_HUMAN Homo sapiens transmembrane emp24 protein transport domain containing 4 (TMED4), mRNA. 162 positive regulation of I-kappaB kinase/NF-kappaB cascade|transport endoplasmic reticulum membrane|integral to membrane signal transducer activity breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GATCAAGCAACTGGCGGGCGC 0.517000 39 9 0 0 0.013537 0 0 PZP 5858 broad.mit.edu 37 12 9316319 9316319 + Missense_Mutation SNP A G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:9316319A>G uc001qvl.3 - 20 2710 c.2681T>C c.(2680-2682)gTt>gCt p.V894A PZP_uc009zgl.3_Intron|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Intron NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 AGGGACCTCAACAACCTCATT 0.408000 52 16 0 0 0.004007 0 0 OR1L1 26737 broad.mit.edu 37 9 125424517 125424517 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:125424517C>T uc022bmz.1 + 0 523 c.523C>T c.(523-525)Cat>Tat p.H175Y NM_001005236 NP_001005236 Q8NH94 OR1L1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA. 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 AAATGTCATCCATCACTTTTT 0.428000 175 51 0 0 0.014410 0 0 OBSCN 84033 broad.mit.edu 37 1 228462473 228462473 + Missense_Mutation SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:228462473C>G uc009xez.1 + 19 5928 c.5884C>G c.(5884-5886)Ctg>Gtg p.L1962V OBSCN_uc001hsn.3_Missense_Mutation_p.L1962V|OBSCN_uc001hsp.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 1962 Ig-like 19. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGACCTGGTGCTGGAGGACGC 0.647000 10 4 0 0 0.000602 0 0 ENC1 8507 broad.mit.edu 37 5 73931057 73931057 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:73931057G>A uc003kdc.4 - 1 2385 c.1254C>T c.(1252-1254)gaC>gaT p.D418D ENC1_uc011css.2_Silent_p.D345D|ENC1_uc021yao.1_Silent_p.D418D NM_003633 NP_003624 O14682 ENC1_HUMAN Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA. 418 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) TGATTGTGGGGTCATAATGTT 0.547000 88 39 0 0 0.010771 0 0 GPX6 257202 broad.mit.edu 37 6 28483487 28483487 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:28483487G>A uc021yrx.1 - 0 84 c.34C>T c.(34-36)Ctg>Ttg p.L12L GPX6_uc010jrg.1_Non-coding_Transcript NM_182701 NP_874360 P59796 GPX6_HUMAN Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA. 12 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) AGGAAAAACAGGACAAGACAG 0.552000 35 7 0 0 0.003080 0 0 NDUFA9 4704 broad.mit.edu 37 12 4758313 4758313 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:4758313C>T uc001qnc.3 + 0 50 c.21C>T c.(19-21)tcC>tcT p.S7S NDUFA9_uc009zei.2_Silent_p.S7S NM_005002 NP_004993 Q16795 NDUA9_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA. 7 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 NADH(DB00157) CCGCACAATCCCGGGTTGTCC 0.587000 17 4 0 0 0.009096 0 0 NDUFS3 4722 broad.mit.edu 37 11 47602407 47602407 + Missense_Mutation SNP A T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:47602407A>T uc001nga.2 + 3 334 c.252A>T c.(250-252)ttA>ttT p.L84F NDUFS3_uc001nft.3_Missense_Mutation_p.L63F|KBTBD4_uc001nfw.2_5'Flank|KBTBD4_uc001nfx.3_5'Flank|KBTBD4_uc001nfz.3_5'Flank|KBTBD4_uc001nfy.3_5'Flank|NDUFS3_uc010rhn.1_Missense_Mutation_p.L84F NM_004551 NP_004542 O75489 NDUS3_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA. 84 induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2) 9 NADH(DB00157) TCAATGAGTTAGAGGTCTGTA 0.498000 116 35 0 0 0.006230 0 0 CAMKK2 10645 broad.mit.edu 37 12 121711955 121711955 + Silent SNP G A A rs146945076 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:121711955G>A uc001tzv.3 - 1 1204 c.375C>T c.(373-375)tcC>tcT p.S125S CAMKK2_uc001tzt.3_Silent_p.S125S|CAMKK2_uc001tzu.3_Silent_p.S125S|CAMKK2_uc001tzw.3_Silent_p.S125S|CAMKK2_uc001tzx.3_Silent_p.S125S|CAMKK2_uc001tzy.3_Silent_p.S125S|CAMKK2_uc001uaa.1_Silent_p.S125S|CAMKK2_uc001uab.3_Silent_p.S125S|CAMKK2_uc001uac.3_Silent_p.S125S|CAMKK2_uc001uad.2_Silent_p.S125S NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA. 125 MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGTAGGGCAGGGACGGGCAGA 0.687000 180 64 0 0 0.014410 0 0 MAST4 375449 broad.mit.edu 37 5 66461218 66461218 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:66461218G>A uc021xzk.1 + 28 6519 c.6211G>A c.(6211-6213)Gag>Aag p.E2071K MAST4_uc003jut.2_Missense_Mutation_p.E1882K|MAST4_uc003juw.3_Missense_Mutation_p.E1810K|MAST4_uc003jux.3_5'Flank NM_001164664 NP_001158136 O15021 MAST4_HUMAN Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA. 2074 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CTGTGAGAAGGAGCTGGGCAA 0.602000 43 13 0 0 0.013537 0 0 RLIM 51132 broad.mit.edu 37 X 73812410 73812410 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:73812410G>A uc004ebu.3 - 4 1030 c.740C>T c.(739-741)tCa>tTa p.S247L RLIM_uc004ebw.3_Missense_Mutation_p.S247L NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA. 247 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGTCTGAGATGAGATACTATG 0.473000 99 12 0 0 0.013537 0 0 KLF14 136259 broad.mit.edu 37 7 130418269 130418269 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:130418269G>A uc003vqk.2 - 0 620 c.592C>T c.(592-594)Ccc>Tcc p.P198S NM_138693 NP_619638 Q8TD94 KLF14_HUMAN Homo sapiens Kruppel-like factor 14 (KLF14), mRNA. 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(18;0.0435) CCCGGGAAGGGGCATTGGTGG 0.682000 272 194 0 0 0.014410 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502321 140502321 + Silent SNP G T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:140502321G>T uc003lip.1 + 0 741 c.741G>T c.(739-741)ggG>ggT p.G247G NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 247 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCATATGGGGTGCAGGTCC 0.488000 84 25 1.55469e-16 1.89725e-16 0.003330 1 0 SLCO2A1 6578 broad.mit.edu 37 3 133692579 133692579 + Missense_Mutation SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:133692579C>G uc003eqa.4 - 2 599 c.325G>C c.(325-327)Gct>Cct p.A109P SLCO2A1_uc011blv.2_Missense_Mutation_p.A109P|SLCO2A1_uc010htw.1_5'UTR NM_005630 NP_005621 Q92959 SO2A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA. 109 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 GCACCTGCAGCCAGGAAGAGA 0.577000 27 4 0 0 0.009096 0 0 COL6A2 1292 broad.mit.edu 37 21 47552187 47552187 + Silent SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:47552187C>G uc002zia.1 + 27 2863 c.2781C>G c.(2779-2781)gcC>gcG p.A927A COL6A2_uc010gqe.2_Non-coding_Transcript NM_001849 NP_001840 P12110 CO6A2_HUMAN Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA. 927 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCATCAATGCCATCGTGCGCA 0.662000 14 4 0 0 0.001984 0 0 DBH 1621 broad.mit.edu 37 9 136516842 136516843 + Missense_Mutation DNP GG AA AA TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:136516842_136516843GG>AA uc004cel.3 + 6 1287_1288 c.1278_1279GG>AA c.(1276-1281)cgggac>cgAAac p.D427N NM_000787 NP_000778 P09172 DOPO_HUMAN Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA. 427 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane L-ascorbic acid binding|dopamine beta-monooxygenase activity central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) TGCTGGTCCGGGACGGCCGGGA 0.653000 17 14 0 0 0.004672 0 0 MAPRE1 22919 broad.mit.edu 37 20 31427587 31427587 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr20:31427587G>A uc002wyh.3 + 4 661 c.522G>A c.(520-522)aaG>aaA p.K174K NM_012325 NP_036457 Q15691 MARE1_HUMAN Homo sapiens microtubule-associated protein, RP/EB family, member 1 (MAPRE1), mRNA. 174 Interaction with MTUS2/TIP150. G2/M transition of mitotic cell cycle|cell division|cell proliferation|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 CGGCTCCTAAGGCTGGCCCTG 0.557000 217 74 0 0 0.014410 0 0 PHOX2B 8929 broad.mit.edu 37 4 41750496 41750496 + Nonsense_Mutation SNP A T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:41750496A>T uc003gwf.4 - 0 492 c.132T>A c.(130-132)taT>taA p.Y44* NM_003924 NP_003915 Q99453 PHX2B_HUMAN Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA. 44 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 TTATCGGGTTATACTGGAAGC 0.622000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 126 5 0 0 0.001168 0 0 FAM181A 90050 broad.mit.edu 37 14 94395153 94395153 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:94395153G>A uc001ybz.2 + 2 1033 c.708G>A c.(706-708)ttG>ttA p.L236L FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.L174L|FAM181A_uc021saz.1_Silent_p.L174L|FAM181A_uc010aus.2_Silent_p.L174L|FAM181A_uc001yca.2_Silent_p.L174L NM_138344 NP_001194003 Q8N9Y4 F181A_HUMAN Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA. 236 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 GCAAGGGCTTGGAGCCCCTGG 0.632000 28 7 0 0 0.001984 0 0 KCND1 3750 broad.mit.edu 37 X 48823417 48823417 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:48823417G>A uc004dlx.1 - 1 2791 c.1218C>T c.(1216-1218)gtC>gtT p.V406V KCND1_uc004dlw.1_Silent_p.V29V NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA. 406 V -> I (in Ref. 2; BAA96454). voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 TGGACACAATGACTGGCACAG 0.577000 30 21 0 0 0.010504 0 0 MYF5 4617 broad.mit.edu 37 12 81110911 81110911 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:81110911C>T uc001szg.2 + 0 204 c.69C>T c.(67-69)tcC>tcT p.S23S NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 23 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GCATACCGTCCCCCGAGGGTG 0.617000 34 8 0 0 0.006214 0 0 CDK9 1025 broad.mit.edu 37 9 130549800 130549800 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:130549800C>T uc004bse.2 + 2 301 c.178C>T c.(178-180)Ccc>Tcc p.P60S NM_001261 NP_001252 P50750 CDK9_HUMAN Homo sapiens cyclin-dependent kinase 9 (CDK9), mRNA. 60 Protein kinase. cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription elongation factor complex ATP binding|DNA binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding lung(1) 1 CACCCAGTTCCCCATTACAGC 0.493000 55 11 0 0 0.001855 0 0 FAM171B 165215 broad.mit.edu 37 2 187626379 187626379 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:187626379C>T uc002ups.3 + 7 1422 c.1310C>T c.(1309-1311)cCt>cTt p.P437L FAM171B_uc002upr.1_Intron|FAM171B_uc002upt.3_5'Flank NM_177454 NP_803237 Q6P995 F171B_HUMAN Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA. 437 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TCATATAGTCCTCAGAAAAAG 0.348000 58 23 0 0 0.002780 0 0 NUFIP1 26747 broad.mit.edu 37 13 45515431 45515431 + Missense_Mutation SNP T G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr13:45515431T>G uc001uzp.2 - 9 1440 c.1398A>C c.(1396-1398)gaA>gaC p.E466D NM_012345 NP_036477 Q9UHK0 NUFP1_HUMAN Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA. 466 RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) TCACATTTCTTTCATGTCGAA 0.328000 18 8 0 0 0.003080 0 0 IL18RAP 8807 broad.mit.edu 37 2 103061796 103061796 + Silent SNP A G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:103061796A>G uc002tbx.3 + 8 1552 c.1068A>G c.(1066-1068)agA>agG p.R356R IL18RAP_uc010fiz.3_Silent_p.R214R NM_003853 NP_003844 O95256 I18RA_HUMAN Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA. 356 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 AAGAAAAGAGAGGAGGTAAGC 0.453000 53 8 0 0 0.003080 0 0 TCEAL3 85012 broad.mit.edu 37 X 102864327 102864327 + Missense_Mutation SNP G C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:102864327G>C uc022cbu.1 + 0 335 c.335G>C c.(334-336)aGa>aCa p.R112T TCEAL3_uc004ekq.3_Missense_Mutation_p.R112T|TCEAL3_uc004ekr.3_Missense_Mutation_p.R112T NM_032926 NP_116315 Q969E4 TCAL3_HUMAN Homo sapiens transcription elongation factor A (SII)-like 3 (TCEAL3), transcript variant 2, mRNA. 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.R112R(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 AAAGCAAAAAGAAAAACGGAC 0.582000 97 16 0 0 0.006122 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626761 140626761 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:140626761C>T uc003lje.3 + 0 1615 c.1615C>T c.(1615-1617)Ccg>Tcg p.P539S NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN Homo sapiens protocadherin beta 15 (PCDHB15), mRNA. 539 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCGGCTTCCCGGCGCTGAG 0.672000 54 18 0 0 0.004990 0 0 RCOR3 55758 broad.mit.edu 37 1 211469090 211469090 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:211469090C>T uc010psw.2 + 8 1207 c.1012C>T c.(1012-1014)Cct>Tct p.P338S RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Missense_Mutation_p.P338S|RCOR3_uc001hif.3_Missense_Mutation_p.P338S|RCOR3_uc001hig.3_Missense_Mutation_p.P280S NM_001136223 NP_060724 Q9P2K3 RCOR3_HUMAN Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA. 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) ATTCAAACCTCCTGAGGTATG 0.343000 16 3 0 0 0.004672 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890082 23890082 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr15:23890082G>A uc001ywj.4 - 0 2912 c.2808C>T c.(2806-2808)caC>caT p.H936H NM_019066 NP_061939 Homo sapiens MAGE-like 2 (MAGEL2), mRNA. breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GGGTGTTTGGGTGCTCCCAGT 0.627000 64 5 0 0 0.004482 0 0 TCRAV5.1a 0 broad.mit.edu 37 14 22237049 22237049 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:22237049G>A uc001wbt.1 + 1 133 c.126G>A c.(124-126)aaG>aaA p.K42K TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2. AGAGCCAAAAGATAGAACAGA 0.478000 22 11 0 0 0.010729 0 0 MID2 11043 broad.mit.edu 37 X 107170226 107170226 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:107170226G>A uc004enl.3 + 9 2704 c.2131G>A c.(2131-2133)Gat>Aat p.D711N MID2_uc004enk.3_Missense_Mutation_p.D681N NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN Homo sapiens midline 2 (MID2), transcript variant 1, mRNA. 711 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 AGATTTTATTGATTACCCTGA 0.418000 56 9 0 0 0.004482 0 0 CHGA 1113 broad.mit.edu 37 14 93393957 93393957 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:93393957C>T uc001ybc.4 + 3 510 c.250C>T c.(250-252)Ctc>Ttc p.L84F CHGA_uc001ybd.4_Missense_Mutation_p.L84F NM_001275 NP_001266 P10645 CMGA_HUMAN Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA. 84 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AGACCTCGCTCTCCAAGGTAT 0.463000 132 38 0 0 0.006230 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110504188 110504188 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:110504188G>A uc003yne.3 + 61 10305 c.10201G>A c.(10201-10203)Gat>Aat p.D3401N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3401 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAACAGAAAAGATTTAAGTTC 0.338000 HNSCC(38;0.096) 8 4 0 0 0.009096 0 0 PRX 57716 broad.mit.edu 37 19 40901365 40901365 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:40901365G>A uc002onr.3 - 6 3163 c.2894C>T c.(2893-2895)tCa>tTa p.S965L PRX_uc002onq.3_Missense_Mutation_p.S826L|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 965 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTTGGGGAGTGAGATGGCAAA 0.622000 90 66 0 0 0.014410 0 0 JDP2 122953 broad.mit.edu 37 14 75928163 75928163 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:75928163G>A uc001xrq.3 + 2 462 c.269G>A c.(268-270)cGg>cAg p.R90Q JDP2_uc010asj.3_Missense_Mutation_p.R79Q|JDP2_uc010tvb.2_Missense_Mutation_p.R79Q|JDP2_uc010tvc.2_Missense_Mutation_p.R79Q NM_001135049 NP_569736 Q8WYK2 JDP2_HUMAN Homo sapiens Jun dimerization protein 2 (JDP2), transcript variant 4, mRNA. 79 nucleus sequence-specific DNA binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(234;0.0296) AAAAGGCGCCGGGAGAAGAAC 0.587000 15 10 0 0 0.001855 0 0 ZNF169 169841 broad.mit.edu 37 9 97062951 97062951 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:97062951G>A uc022bki.1 + 3 1169 c.1114G>A c.(1114-1116)Gag>Aag p.E372K ZNF169_uc004aum.1_Missense_Mutation_p.E371K NM_194320 NP_919301 Q14929 ZN169_HUMAN Homo sapiens zinc finger protein 169 (ZNF169), mRNA. 371 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) ACACACAGGGGAGAGGCCCTT 0.577000 34 7 0 0 0.003080 0 0 MYO18B 84700 broad.mit.edu 37 22 26164456 26164456 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr22:26164456G>A uc003abz.1 + 3 823 c.573G>A c.(571-573)aaG>aaA p.K191K MYO18B_uc003aca.1_Silent_p.K72K|MYO18B_uc010guy.1_Silent_p.K72K|MYO18B_uc010guz.1_Silent_p.K72K|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 191 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GAAAGGAAAAGAAAGGGGAGA 0.617000 19 3 0 0 0.000602 0 0 CNTN6 27255 broad.mit.edu 37 3 1418728 1418728 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:1418728G>A uc003boz.3 + 16 2402 c.2135G>A c.(2134-2136)gGa>gAa p.G712E CNTN6_uc011asj.2_Missense_Mutation_p.G640E|CNTN6_uc003bpa.3_Missense_Mutation_p.G712E NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 712 Fibronectin type-III 2. Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GGAGGTGGAGGAAGTCGGTCT 0.403000 60 31 0 0 0.004289 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47581254 47581254 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:47581254G>A uc001cqu.1 + 9 1258 c.1255G>A c.(1255-1257)Gaa>Aaa p.E419K NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA. 419 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 CTATTTCTGGGAAGACCCTCA 0.443000 31 10 0 0 0.010729 0 0 SLC4A8 9498 broad.mit.edu 37 12 51883720 51883720 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:51883720G>A uc001rys.1 + 18 2863 c.2685G>A c.(2683-2685)atG>atA p.M895I SLC4A8_uc001rym.3_Missense_Mutation_p.M842I|SLC4A8_uc001ryn.3_Missense_Mutation_p.M842I|SLC4A8_uc001ryo.2_Missense_Mutation_p.M842I|SLC4A8_uc010snj.2_Missense_Mutation_p.M922I|SLC4A8_uc001ryr.3_Missense_Mutation_p.M895I NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA. 895 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) CAGTCTTCATGACGGCTATCT 0.493000 72 10 0 0 0.006214 0 0 NUP62CL 54830 broad.mit.edu 37 X 106396512 106396512 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:106396512G>A uc004ena.3 - 6 679 c.420C>T c.(418-420)atC>atT p.I140I NUP62CL_uc004enb.3_Non-coding_Transcript NM_017681 NP_060151 Q9H1M0 N62CL_HUMAN Homo sapiens nucleoporin 62kDa C-terminal like (NUP62CL), transcript variant 1, mRNA. 140 protein transport nuclear pore structural constituent of nuclear pore lung(4) 4 GCTGTGACAGGATAAAATCCA 0.373000 96 15 0 0 0.004007 0 0 AIM1 202 broad.mit.edu 37 6 107008779 107008779 + Missense_Mutation SNP G A A rs144319815 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:107008779G>A uc003prh.3 + 16 5645 c.4733G>A c.(4732-4734)gGt>gAt p.G1578D AIM1_uc003pri.3_Missense_Mutation_p.G382D NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 1578 Beta/gamma crystallin 'Greek key' 12. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CGCCAAATAGGTTCTCTACGA 0.398000 85 31 0 0 0.004289 0 0 PBRM1 55193 broad.mit.edu 37 3 52610700 52610700 + Nonsense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:52610700C>T uc003des.2 - 21 3560 c.3548G>A c.(3547-3549)tGg>tAg p.W1183* PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.W1183*|PBRM1_uc003der.2_Nonsense_Mutation_p.W1151*|PBRM1_uc003det.2_Nonsense_Mutation_p.W1198*|PBRM1_uc003deu.2_Nonsense_Mutation_p.W1198*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.W1183*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.W1158*|PBRM1_uc003dey.2_Nonsense_Mutation_p.W1158*|PBRM1_uc003dez.1_Nonsense_Mutation_p.W1182* NM_181042 NP_060635 Q86U86 PB1_HUMAN Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA. 1183 BAH 2. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome DNA binding|chromatin binding|protein binding p.V1182fs*36(1) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) ATCTCGAACCCATACTTTTTC 0.328000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 18 15 0 0 0.004007 0 0 ALS2 57679 broad.mit.edu 37 2 202571691 202571691 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:202571691G>A uc002uyo.3 - 28 4814 c.4458C>T c.(4456-4458)taC>taT p.Y1486Y ALS2_uc010ftl.3_Non-coding_Transcript NM_020919 NP_065970 Q96Q42 ALS2_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA. 1486 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 ACAGCGGTGGGTAGAGCCGAG 0.413000 30 12 0 0 0.001855 0 0 PEX5 5830 broad.mit.edu 37 12 7362708 7362708 + Missense_Mutation SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:7362708C>G uc009zfu.2 + 16 2389 c.1809C>G c.(1807-1809)atC>atG p.I603M PEX5_uc001qsw.3_Missense_Mutation_p.I603M|PEX5_uc010sgc.2_Missense_Mutation_p.I618M|PEX5_uc001qsu.3_Missense_Mutation_p.I566M|PEX5_uc010sgd.2_Missense_Mutation_p.I624M|PEX5_uc001qsv.3_Missense_Mutation_p.I595M NM_001131026 NP_001124498 P50542 PEX5_HUMAN Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA. 603 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 CGGAGAACATCTGGAGCACCC 0.597000 48 24 0 0 0.003330 0 0 TLE4 7091 broad.mit.edu 37 9 82333688 82333688 + Silent SNP T C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:82333688T>C uc004ald.3 + 15 2316 c.1467T>C c.(1465-1467)ttT>ttC p.F489F TLE4_uc004alc.3_Silent_p.F464F|TLE4_uc010mpr.3_Silent_p.F343F|TLE4_uc004ale.3_Silent_p.F101F|TLE4_uc011lsq.2_Silent_p.F432F|TLE4_uc010mps.3_Silent_p.F388F|TLE4_uc004alf.3_Silent_p.F403F NM_007005 NP_008936 O60756 BCE1_HUMAN Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA. 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CTGTCCCTTTTCCACCCGACG 0.547000 71 19 0 0 0.010504 0 0 IQUB 154865 broad.mit.edu 37 7 123092876 123092876 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:123092876C>T uc003vkn.3 - 12 2874 c.2297G>A c.(2296-2298)gGt>gAt p.G766D IQUB_uc011kny.2_Missense_Mutation_p.G99D|IQUB_uc003vko.3_Missense_Mutation_p.G766D|IQUB_uc010lkt.3_Non-coding_Transcript NM_178827 NP_849149 Q8NA54 IQUB_HUMAN Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA. 766 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 ATCAATTTCACCATCATCAAG 0.383000 15 14 0 0 0.002450 0 0 PRKG1 5592 broad.mit.edu 37 10 54031112 54031112 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:54031112C>T uc001jjm.3 + 10 1359 c.1131C>T c.(1129-1131)gtC>gtT p.V377V PRKG1_uc001jjo.3_Silent_p.V392V|PRKG1_uc009xow.2_Silent_p.V95V|LOC100506939_uc021pqu.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA. 377 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TCTTTAAGGTCCAGTTGAAAA 0.408000 16 5 0 0 0.000602 0 0 SAMSN1 64092 broad.mit.edu 37 21 15918571 15918571 + Silent SNP T C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:15918571T>C uc002yju.1 - 0 94 c.12A>G c.(10-12)agA>agG p.R4R SAMSN1_uc010gky.1_Silent_p.R4R|SAMSN1_uc002yjv.1_Intron NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA. 4 negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TGGATGGCTTTCTCTTGAGCA 0.348000 47 26 0 0 0.009535 0 0 HMHA1 23526 broad.mit.edu 37 19 1081008 1081008 + Missense_Mutation SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:1081008C>G uc002lqz.1 + 16 2366 c.2135C>G c.(2134-2136)gCc>gGc p.A712G HMHA1_uc010xgd.1_Missense_Mutation_p.A728G|HMHA1_uc010xge.1_Missense_Mutation_p.A580G|HMHA1_uc002lra.1_Missense_Mutation_p.A552G|HMHA1_uc002lrb.1_Missense_Mutation_p.A595G|HMHA1_uc002lrc.1_Missense_Mutation_p.A347G NM_012292 NP_036424 Q92619 HMHA1_HUMAN Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA. 712 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCACGCCCGCCAAGTGCCGC 0.692000 10 4 0 0 0.009096 0 0 ACTL8 81569 broad.mit.edu 37 1 18152407 18152407 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:18152407C>T uc001bat.3 + 2 710 c.494C>T c.(493-495)cCc>cTc p.P165L NM_030812 NP_110439 Q9H568 ACTL8_HUMAN Homo sapiens actin-like 8 (ACTL8), mRNA. 165 cytoplasm|cytoskeleton p.R164H(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CAGGGCCGCCCCTTGCCCGCC 0.617000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 14 0 0 0.002450 0 0 GPRC6A 222545 broad.mit.edu 37 6 117128035 117128035 + Missense_Mutation SNP A C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:117128035A>C uc003pxj.1 - 2 855 c.833T>G c.(832-834)cTg>cGg p.L278R GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.L278R NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 278 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GAATTGCCTCAGAAATACCAC 0.353000 36 21 0 0 0.010504 0 0 FBP2 8789 broad.mit.edu 37 9 97321399 97321399 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:97321399C>T uc004auv.3 - 6 908 c.841G>A c.(841-843)Gaa>Aaa p.E281K BC080653_uc004aus.1_Non-coding_Transcript|BC080653_uc004aut.1_Non-coding_Transcript NM_003837 NP_003828 O00757 F16P2_HUMAN Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA. 281 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding endometrium(1)|large_intestine(3)|lung(5) 9 Acute lymphoblastic leukemia(62;0.136) GGATTGCATTCATACAGGAGC 0.592000 26 5 0 0 0.001168 0 0 STAU2 27067 broad.mit.edu 37 8 74650519 74650519 + Splice_Site SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:74650519C>G uc003xzm.3 - 3 324 c.-17_splice c.e3+1 STAU2_uc011lfh.2_Splice_Site|STAU2_uc003xzn.3_Splice_Site_p.Q6_splice|STAU2_uc011lfg.2_Intron|STAU2_uc003xzo.3_Splice_Site|STAU2_uc003xzq.3_Intron|STAU2_uc003xzp.3_Splice_Site_p.Q6_splice|STAU2_uc011lfi.2_Intron|STAU2_uc010lzk.3_Splice_Site_p.Q6_splice|STAU2_uc010lzl.1_Intron|STAU2_uc003xzs.3_Splice_Site_p.Q6_splice|STAU2_uc003xzr.3_Splice_Site NM_001164380 NP_001157855 Q9NUL3 STAU2_HUMAN Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) ACAAACTCACCTGATTTATTT 0.348000 30 8 0 0 0.003080 0 0 PLXNA1 5361 broad.mit.edu 37 3 126730864 126730864 + Missense_Mutation SNP A C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:126730864A>C uc003ejg.3 + 8 2176 c.2176A>C c.(2176-2178)Acc>Ccc p.T726P NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 726 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.T703P(2) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) AAAACCCATCACCCTGGCCGC 0.652000 48 10 0 0 0.005443 0 0 SCRIB 23513 broad.mit.edu 37 8 144890932 144890932 + Silent SNP A C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:144890932A>C uc003yzp.1 - 14 1969 c.1962T>G c.(1960-1962)gcT>gcG p.A654A SCRIB_uc003yzo.1_Silent_p.A654A NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 654 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGGCCCGAGGAGCCCAGGGTG 0.667000 39 17 0 0 0.004007 0 0 FRYL 285527 broad.mit.edu 37 4 48517230 48517230 + Silent SNP T G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:48517230T>G uc003gyh.1 - 55 8357 c.7752A>C c.(7750-7752)atA>atC p.I2584I FRYL_uc003gyf.1_5'UTR|FRYL_uc003gyg.1_Silent_p.I1280I|FRYL_uc003gyi.1_Silent_p.I1472I NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 2584 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GTTCTTGAATTATATAGGATC 0.368000 47 15 0 0 0.003163 0 0 COL4A5 1287 broad.mit.edu 37 X 107815042 107815042 + Splice_Site SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:107815042G>A uc022ccg.1 + 8 641 c.439_splice c.e8-1 p.G147_splice COL4A5_uc004enz.1_Splice_Site_p.G147_splice NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 147 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TAATAATAGGGACCCCCTGGG 0.348000 Alport syndrome with Diffuse Leiomyomatosis 44 9 0 0 0.006214 0 0 NWD1 284434 broad.mit.edu 37 19 16899852 16899852 + Missense_Mutation SNP G A A rs140602425 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:16899852G>A uc002neu.4 + 12 3213 c.2791G>A c.(2791-2793)Gat>Aat p.D931N NWD1_uc002net.4_Missense_Mutation_p.D796N|NWD1_uc002nev.4_Missense_Mutation_p.D725N|NWD1_uc021uqg.1_Missense_Mutation_p.D796N NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 931 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGCTTCAAAGGATTACACGCT 0.498000 70 18 0 0 0.007413 0 0 ILDR2 387597 broad.mit.edu 37 1 166926004 166926004 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:166926004C>T uc001gdx.2 - 2 521 c.465G>A c.(463-465)ggG>ggA p.G155G NM_199351 NP_955383 Q71H61 ILDR2_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA. 155 Ig-like V-type. integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 CCTCATTTTTCCCCTCCAGGT 0.438000 42 19 0 0 0.012319 0 0 NONO 4841 broad.mit.edu 37 X 70514159 70514159 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:70514159C>T uc004dzo.3 + 5 1141 c.431C>T c.(430-432)gCc>gTc p.A144V BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.A144V|NONO_uc004dzp.3_Missense_Mutation_p.A144V|NONO_uc011mpv.2_Missense_Mutation_p.A55V|NONO_uc004dzq.3_Missense_Mutation_p.A13V NM_001145408 NP_001138882 Q15233 NONO_HUMAN Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA. 144 DBHS. DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|RNA binding|identical protein binding|nucleotide binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) GTGCGCTTTGCCTGCCATAGT 0.522000 T TFE3 papillary renal cancer 59 11 0 0 0.013537 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171534 150171534 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:150171534G>A uc003whj.3 + 3 1447 c.1117G>A c.(1117-1119)Gat>Aat p.D373N NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 373 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AGGGGATCAGGATCTAGATAC 0.398000 94 75 0 0 0.014410 0 0 COL11A2 1302 broad.mit.edu 37 6 33136775 33136775 + Missense_Mutation SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:33136775C>G uc003ocx.1 - 51 4037 c.3809G>C c.(3808-3810)gGt>gCt p.G1270A COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1184A|COL11A2_uc003ocz.1_Missense_Mutation_p.G1163A NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1270 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 ACCAGGAAAACCAACAGGACC 0.602000 60 13 0 0 0.002450 0 0 GAD2 2572 broad.mit.edu 37 10 26589769 26589769 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:26589769G>A uc001isp.2 + 15 2140 c.1637G>A c.(1636-1638)aGc>aAc p.S546N GAD2_uc001isq.2_Missense_Mutation_p.S546N NM_001134366 NP_001127838 Q05329 DCE2_HUMAN Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA. 546 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) ACAATGGTCAGCTACCAACCC 0.483000 50 33 0 0 0.004289 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204403714 204403714 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:204403714G>A uc001haw.3 - 24 4018 c.3539C>T c.(3538-3540)tCc>tTc p.S1180F PIK3C2B_uc010pqv.2_Missense_Mutation_p.S1152F NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 1180 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GCCAGCGCAGGAGTAGATAAA 0.547000 23 5 0 0 0.001984 0 0 DNAH7 56171 broad.mit.edu 37 2 196651805 196651805 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:196651805G>A uc002utj.4 - 57 10908 c.10807C>T c.(10807-10809)Cct>Tct p.P3603S DNAH7_uc002uti.4_Missense_Mutation_p.P86S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3603 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AACTCATAAGGAATATTCCAC 0.408000 49 21 0 0 0.012319 0 0 OR10G8 219869 broad.mit.edu 37 11 123900575 123900575 + Silent SNP T G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:123900575T>G uc001pzp.1 + 0 246 c.246T>G c.(244-246)acT>acG p.T82T NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA. 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGCTGATGACTTTGGTGTTCC 0.517000 68 26 0 0 0.006320 0 0 FAM163B 642968 broad.mit.edu 37 9 136444264 136444264 + Missense_Mutation SNP G C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:136444264G>C uc011mdm.2 - 1 404 c.381C>G c.(379-381)agC>agG p.S127R NM_001080515 NP_001073984 P0C2L3 F163B_HUMAN Homo sapiens family with sequence similarity 163, member B (FAM163B), mRNA. 127 integral to membrane large_intestine(1) 1 CGTCCTCCTGGCTCACGCTCT 0.711000 17 5 0 0 0.000602 0 0 T 6862 broad.mit.edu 37 6 166580255 166580255 + Missense_Mutation SNP T C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:166580255T>C uc003qut.1 - 1 582 c.296A>G c.(295-297)aAc>aGc p.N99S T_uc003quu.1_Missense_Mutation_p.N99S|T_uc003quv.1_Missense_Mutation_p.N99S NM_003181 NP_003172 O15178 BRAC_HUMAN Homo sapiens T, brachyury homolog (mouse) (T), mRNA. 99 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CCAGCGGTGGTTGTCCGCCGC 0.637000 Chordoma, Familial Clustering of 40 26 0 0 0.004656 0 0 ZNF878 729747 broad.mit.edu 37 19 12155500 12155500 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:12155500G>A uc021upl.1 - 3 882 c.716C>T c.(715-717)cCc>cTc p.P239L ZNF878_uc002mta.1_Missense_Mutation_p.P286L NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN Homo sapiens zinc finger protein 878 (ZNF878), mRNA. 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TAACGAACTGGGAGAAAAAAA 0.378000 64 20 0 0 0.008871 0 0 ANAPC1 64682 broad.mit.edu 37 2 112605420 112605420 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:112605420G>A uc002thi.3 - 14 1920 c.1673C>T c.(1672-1674)cCa>cTa p.P558L NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 558 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 CCTCAGTTCTGGAACTGGGGA 0.343000 43 22 0 0 0.002780 0 0 RERE 473 broad.mit.edu 37 1 8418476 8418476 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:8418476G>A uc001ape.3 - 20 4929 c.4119C>T c.(4117-4119)ccC>ccT p.P1373P RERE_uc001apf.3_Silent_p.P1373P|RERE_uc001apd.3_Silent_p.P819P NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 1373 NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CCCTCTCCAAGGGGTTCAGGC 0.692000 20 6 0 0 0.001168 0 0 SLC6A13 6540 broad.mit.edu 37 12 344305 344305 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:344305C>T uc001qic.2 - 6 872 c.782G>A c.(781-783)gGa>gAa p.G261E SLC6A13_uc009zdj.2_Missense_Mutation_p.G261E|SLC6A13_uc010sdl.2_Missense_Mutation_p.G169E|SLC6A13_uc010sdm.1_Missense_Mutation_p.G142E NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA. 261 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) AAACTGAATTCCTTGGGCTGC 0.557000 45 14 0 0 0.003163 0 0 SHQ1 55164 broad.mit.edu 37 3 72866508 72866508 + Missense_Mutation SNP T A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:72866508T>A uc003dpf.3 - 6 862 c.755A>T c.(754-756)cAg>cTg p.Q252L SHQ1_uc010hod.3_Missense_Mutation_p.Q163L NM_018130 NP_060600 Q6PI26 SHQ1_HUMAN Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA. 252 ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) TTTTCGTAGCTGATACTTCTC 0.348000 36 8 0 0 0.003080 0 0 SCAND3 114821 broad.mit.edu 37 6 28541106 28541106 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:28541106C>T uc003nlo.3 - 3 3178 c.2560G>A c.(2560-2562)Gaa>Aaa p.E854K NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 854 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 cccaacatttccaagcaaact 0.438000 93 31 0 0 0.012213 0 0 MAGI2 9863 broad.mit.edu 37 7 77762378 77762378 + Splice_Site SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:77762378C>T uc003ugx.3 - 18 3286 c.3032_splice c.e18-1 p.E1011_splice MAGI2_uc003ugy.3_Splice_Site_p.E997_splice|MAGI2_uc010ldx.1_Splice_Site_p.E604_splice NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 1011 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTGTTGAGCTCTGCGATGGAG 0.597000 49 68 0 0 0.014410 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1808199 1808199 + Silent SNP C T T rs151043667 by1000genomes TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:1808199C>T uc003wpr.3 + 3 508 c.330C>T c.(328-330)ccC>ccT p.P110P ARHGEF10_uc003wpq.1_Silent_p.P134P|ARHGEF10_uc003wps.3_Silent_p.P110P|ARHGEF10_uc003wpt.3_Silent_p.P24P|ARHGEF10_uc010lrd.2_Silent_p.P24P|ARHGEF10_uc003wpu.3_Silent_p.P24P NM_014629 NP_055444 O15013 ARHGA_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA. 134 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction Rho guanyl-nucleotide exchange factor activity|kinesin binding endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CCCCCGTGCCCAGCGCTGAGG 0.622000 78 20 0 0 0.007413 0 0 BTBD16 118663 broad.mit.edu 37 10 124034599 124034599 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:124034599G>A uc001lgc.1 + 1 254 c.3G>A c.(1-3)atG>atA p.M1I BTBD16_uc001lgd.1_5'UTR NM_144587 NP_653188 Q32M84 BTBDG_HUMAN Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA. 1 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TTTCATTCATGATAATGTCGA 0.378000 49 14 0 0 0.006122 0 0 APOL1 8542 broad.mit.edu 37 22 36661727 36661727 + Missense_Mutation SNP A C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr22:36661727A>C uc003ape.3 + 6 1167 c.893A>C c.(892-894)gAc>gCc p.D298A APOL1_uc011amn.1_Missense_Mutation_p.D159A|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Missense_Mutation_p.D159A|APOL1_uc003apf.3_Missense_Mutation_p.D282A|APOL1_uc011amp.2_Missense_Mutation_p.D282A|APOL1_uc011amq.2_Missense_Mutation_p.D264A|APOL1_uc010gwx.3_Missense_Mutation_p.D159A NM_145343 NP_003652 O14791 APOL1_HUMAN Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA. 282 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 ATTGGGAAGGACATCCGTGCC 0.527000 85 18 0 0 0.007413 0 0 MARCH6 10299 broad.mit.edu 37 5 10390517 10390517 + Missense_Mutation SNP G C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:10390517G>C uc003jet.1 + 5 664 c.481G>C c.(481-483)Gtg>Ctg p.V161L MARCH6_uc011cmu.1_Missense_Mutation_p.V113L|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.V56L NM_005885 NP_005876 O60337 MARH6_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA. 161 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 CATCAGCCTGGTGTGGTTGAG 0.458000 49 17 0 0 0.006122 0 0 GPR123 84435 broad.mit.edu 37 10 134886590 134886590 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:134886590C>T uc001llw.3 + 2 624 c.624C>T c.(622-624)ctC>ctT p.L208L Q86SQ6 GP123_HUMAN Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA. 246 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CTGCCATGCTCGTCTGTGAGG 0.672000 8 3 0 0 0.009096 0 0 HSD17B10 3028 broad.mit.edu 37 X 53458992 53458992 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:53458992C>T uc004dsl.1 - 3 461 c.430G>A c.(430-432)Gga>Aga p.G144R HSD17B10_uc004dsm.1_Missense_Mutation_p.G144R NM_004493 NP_004484 Q99714 HCD2_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 144 branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing mitochondrial matrix|plasma membrane 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1) 8 NADH(DB00157) CGTTGGCCTCCCTGGTCTGGT 0.547000 63 5 0 0 0.001984 0 0 MYO1H 283446 broad.mit.edu 37 12 109844617 109844618 + Missense_Mutation DNP CC TT TT TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:109844617_109844618CC>TT uc010sxn.1 + 7 939_940 c.939_940CC>TT c.(937-942)gtcctt>gtTTtt p.L314F NM_001101421 NP_001094891 B4DNW6 B4DNW6_HUMAN Homo sapiens myosin IH (MYO1H), mRNA. 62 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 ACCCATCAGTCCTTCTGGAAGC 0.455000 76 22 0 0 0.004672 0 0 ANKRD17 26057 broad.mit.edu 37 4 73987424 73987424 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:73987424G>A uc003hgp.3 - 18 3662 c.3545C>T c.(3544-3546)tCt>tTt p.S1182F ANKRD17_uc003hgo.3_Missense_Mutation_p.S1069F|ANKRD17_uc003hgq.3_Missense_Mutation_p.S931F|ANKRD17_uc003hgr.3_Missense_Mutation_p.S1181F|ANKRD17_uc011cbd.1_Missense_Mutation_p.S747F NM_032217 NP_115593 O75179 ANR17_HUMAN Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA. 1182 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGTGTAATCAGAAACATTCCT 0.373000 41 16 0 0 0.004990 0 0 CLDN16 10686 broad.mit.edu 37 3 190122712 190122712 + Missense_Mutation SNP G C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:190122712G>C uc003fsi.3 + 2 837 c.589G>C c.(589-591)Gca>Cca p.A197P CLDN16_uc010hze.3_Intron NM_006580 NP_006571 Q9Y5I7 CLD16_HUMAN Homo sapiens claudin 16 (CLDN16), mRNA. 197 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) GTTACTAATAGCAGGTACCGG 0.517000 39 9 0 0 0.006214 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090797 115090797 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr13:115090797C>T uc001vuv.3 + 2 1812 c.1480C>T c.(1480-1482)Cct>Tct p.P494S CHAMP1_uc010tko.2_Missense_Mutation_p.P494S|CHAMP1_uc010ahb.3_Missense_Mutation_p.P494S|CHAMP1_uc021rmx.1_Missense_Mutation_p.P494S NM_032436 NP_115812 Q96JM3 ZN828_HUMAN Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA. 494 Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ACCTGTCTTCCCTGAGACCCG 0.493000 154 69 0 0 0.014410 0 0 AX746964 0 broad.mit.edu 37 5 140242780 140242780 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:140242780C>T uc003lhy.1 - 0 445 c.196G>A c.(196-198)Gac>Aac p.D66N PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ34090 fis, clone FCBBF3006399; GTGGTGGCGTCGCTGGCGGAG 0.672000 18 6 0 0 0.001168 0 0 ZNF608 57507 broad.mit.edu 37 5 123983396 123983396 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:123983396G>A uc003ktq.1 - 3 2864 c.2681C>T c.(2680-2682)cCc>cTc p.P894L ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.P894L|ZNF608_uc003ktt.1_Missense_Mutation_p.P894L NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN Homo sapiens zinc finger protein 608 (ZNF608), mRNA. 894 intracellular zinc ion binding p.P894P(1) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GGAAGGGCTGGGAGCGTTGTC 0.562000 49 15 0 0 0.002450 0 0 CD163L1 283316 broad.mit.edu 37 12 7521534 7521534 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:7521534G>A uc010sge.2 - 15 4123 c.4097C>T c.(4096-4098)tCc>tTc p.S1366F CD163L1_uc001qsy.3_Missense_Mutation_p.S1356F NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 1356 extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.S1356F(1) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TATACCTGAGGAGGCATTCAG 0.443000 61 14 0 0 0.001855 0 0 ASUN 55726 broad.mit.edu 37 12 27068991 27068991 + Missense_Mutation SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:27068991C>G uc001rhk.4 - 10 1729 c.1192G>C c.(1192-1194)Gat>Cat p.D398H ASUN_uc001rhj.4_Missense_Mutation_p.D23H|ASUN_uc010sjk.2_Missense_Mutation_p.D297H NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA. 398 cell division|mitosis|regulation of mitotic cell cycle protein binding GAAGGTGGATCTTCTAGAATG 0.378000 25 14 0 0 0.003163 0 0 IGSF8 93185 broad.mit.edu 37 1 160062370 160062370 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:160062370G>A uc001fva.3 - 4 1473 c.1428C>T c.(1426-1428)gcC>gcT p.A476A IGSF8_uc001fuz.3_Silent_p.A476A|IGSF8_uc009wtf.3_Silent_p.A476A NM_052868 NP_443100 Q969P0 IGSF8_HUMAN Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA. 476 Ig-like C2-type 4. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding p.A476V(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) ACCAGCTGGCGGCCAGCCGCA 0.682000 19 8 0 0 0.006214 0 0 CDH9 1007 broad.mit.edu 37 5 26915882 26915882 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:26915882G>A uc003jgs.1 - 2 548 c.379C>T c.(379-381)Cgt>Tgt p.R127C CDH9_uc010iug.3_Missense_Mutation_p.R127C NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. 127 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GCCTTGGCACGAAGAATGTAC 0.393000 73 35 0 0 0.004878 0 0 PPIG 9360 broad.mit.edu 37 2 170465225 170465225 + Missense_Mutation SNP A G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:170465225A>G uc002uez.3 + 6 554 c.334A>G c.(334-336)Atg>Gtg p.M112V PPIG_uc010fpx.3_Missense_Mutation_p.M97V|PPIG_uc010fpy.3_Missense_Mutation_p.M108V|PPIG_uc002ufa.3_Missense_Mutation_p.M112V|PPIG_uc002ufb.3_Missense_Mutation_p.M112V|PPIG_uc002ufc.1_Missense_Mutation_p.M112V|PPIG_uc002ufd.3_Missense_Mutation_p.M112V NM_004792 NP_004783 Q13427 PPIG_HUMAN Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA. 112 PPIase cyclophilin-type. RNA splicing|protein folding nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) TCTCTTGTCAATGGCCAACAG 0.358000 28 5 0 0 0.001168 0 0 OR6C4 341418 broad.mit.edu 37 12 55945365 55945365 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:55945365G>A uc010spp.2 + 0 355 c.355G>A c.(355-357)Gat>Aat p.D119N NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA. 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D119H(2) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 CATGTCTTATGATCGTTATGT 0.443000 88 31 0 0 0.010818 0 0 RFX6 222546 broad.mit.edu 37 6 117245873 117245873 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:117245873C>T uc003pxm.3 + 14 1660 c.1597C>T c.(1597-1599)Ctc>Ttc p.L533F NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 533 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGAATACATTCTCCTGGCCAT 0.363000 60 10 0 0 0.008291 0 0 PROS1 5627 broad.mit.edu 37 3 93615531 93615531 + Missense_Mutation SNP A T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:93615531A>T uc003drb.4 - 8 1195 c.854T>A c.(853-855)gTt>gAt p.V285D PROS1_uc010hoo.3_Missense_Mutation_p.V154D|PROS1_uc003dqz.4_Missense_Mutation_p.V154D NM_000313 NP_000304 P07225 PROS_HUMAN Homo sapiens protein S (alpha) (PROS1), mRNA. 285 leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity p.V284I(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) GCACACTGAAACAACCTGGAA 0.353000 101 10 0 0 0.008291 0 0 KLHL7 55975 broad.mit.edu 37 7 23180540 23180540 + Missense_Mutation SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:23180540C>G uc003svs.4 + 4 888 c.595C>G c.(595-597)Ctg>Gtg p.L199V KLHL7_uc003svr.4_Missense_Mutation_p.L177V|KLHL7_uc011jys.2_Missense_Mutation_p.L123V|KLHL7_uc011jyt.2_5'UTR|KLHL7_uc003svt.3_Missense_Mutation_p.L151V|KLHL7_uc011jyv.2_5'UTR NM_001031710 NP_061334 Q8IXQ5 KLHL7_HUMAN Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA. 199 Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CCAGGACACTCTGACTGTGAG 0.353000 57 19 0 0 0.014323 0 0 RALYL 138046 broad.mit.edu 37 8 85441712 85441712 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:85441712C>T uc003yct.4 + 1 329 c.195C>T c.(193-195)tcC>tcT p.S65S RALYL_uc003ycq.4_Silent_p.S52S|RALYL_uc003ycr.4_Silent_p.S52S|RALYL_uc003ycs.4_Silent_p.S52S|RALYL_uc010lzy.3_Silent_p.S52S NM_001100391 NP_776247 Q86SE5 RALYL_HUMAN Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA. 52 RRM. RNA binding|identical protein binding|nucleotide binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 TTGGATGTTCCGTTCACAAAG 0.433000 30 12 0 0 0.001855 0 0 ANK1 286 broad.mit.edu 37 8 41525854 41525854 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:41525854C>T uc003xok.3 - 38 5409 c.5325G>A c.(5323-5325)agG>agA p.R1775R NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.R929R|ANK1_uc003xoi.3_Silent_p.R1775R|ANK1_uc003xoj.3_Silent_p.R1775R|ANK1_uc003xol.3_Silent_p.R1613R|ANK1_uc003xom.3_Silent_p.R1816R NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1775 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.R1775S(2)|p.R1816S(1)|p.R1775K(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCCTCCGGTCCCTGTCGGCCT 0.622000 57 15 0 0 0.002450 0 0 SMARCC1 6599 broad.mit.edu 37 3 47702787 47702787 + Missense_Mutation SNP G C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:47702787G>C uc003crq.2 - 20 2435 c.2317C>G c.(2317-2319)Ctt>Gtt p.L773V SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Missense_Mutation_p.L664V NM_003074 NP_003065 Q92922 SMRC1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA. 773 Glu-rich. chromatin remodeling|nervous system development|transcription, DNA-dependent SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) GACTCACCAAGCTTCTCTGGC 0.473000 61 32 0 0 0.006999 0 0 PXDNL 137902 broad.mit.edu 37 8 52321550 52321550 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:52321550C>T uc003xqu.4 - 16 2735 c.2634G>A c.(2632-2634)gtG>gtA p.V878V PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 878 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AGACTGAATCCACCGTCGCAG 0.657000 34 11 0 0 0.008291 0 0 CSAD 51380 broad.mit.edu 37 12 53563896 53563896 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:53563896G>A uc001sby.3 - 8 788 c.662C>T c.(661-663)cCc>cTc p.P221L CSAD_uc001sbw.3_Missense_Mutation_p.P74L|CSAD_uc009zmt.3_Missense_Mutation_p.P3L|CSAD_uc010snx.2_Missense_Mutation_p.P248L|CSAD_uc001sbz.3_Missense_Mutation_p.P221L|CSAD_uc009zmu.3_Missense_Mutation_p.P74L|CSAD_uc021qyd.1_Non-coding_Transcript NM_001244705 NP_001231634 Q9Y600 CSAD_HUMAN Homo sapiens cysteine sulfinic acid decarboxylase (CSAD), transcript variant 2, mRNA. 221 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) CAGATCCTCGGGGACCATTTT 0.527000 58 15 0 0 0.006122 0 0 UPF1 5976 broad.mit.edu 37 19 18965518 18965518 + Splice_Site SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:18965518G>A uc002nkg.3 + 9 1573 c.1298_splice c.e9+1 p.R433_splice UPF1_uc002nkf.3_Splice_Site_p.R422_splice NM_002911 NP_002902 Q92900 RENT1_HUMAN Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA. 433 DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 TCCTTTGACAGGTACGTCTTC 0.582000 76 26 0 0 0.003330 0 0 PCDH9 5101 broad.mit.edu 37 13 67799670 67799671 + Missense_Mutation DNP GG AA AA TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr13:67799670_67799671GG>AA uc001vik.3 - 1 3594_3595 c.2902_2903CC>TT c.(2902-2904)cct>TTt p.P968F PCDH9_uc001vil.3_Missense_Mutation_p.P968F|PCDH9_uc010thl.2_Missense_Mutation_p.P968F|PCDH9_uc001vin.3_Missense_Mutation_p.P968F NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA. 968 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GTTGTCCAAAGGGAGTTCCTGA 0.500000 58 27 0 0 0.004672 0 0 VWC2 375567 broad.mit.edu 37 7 49842382 49842382 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:49842382G>A uc003tot.1 + 2 1328 c.772G>A c.(772-774)Gag>Aag p.E258K NM_198570 NP_940972 Q2TAL6 VWC2_HUMAN Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA. 258 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 TCCCCAGACGGAGTGTGTGGA 0.567000 35 30 0 0 0.007291 0 0 MN1 4330 broad.mit.edu 37 22 28146960 28146960 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr22:28146960C>T uc003adj.3 - 1 4861 c.3906G>A c.(3904-3906)cgG>cgA p.R1302R MN1_uc010gvg.3_Non-coding_Transcript NM_002430 NP_002421 Q10571 MN1_HUMAN Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA. 1302 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 AATGCAGGGACCGCCAGGTGG 0.597000 T ETV6 """AML, meningioma""" 66 27 0 0 0.007291 0 0 ZNF395 55893 broad.mit.edu 37 8 28206337 28206337 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:28206337C>T uc003xgq.3 - 9 1529 c.1441G>A c.(1441-1443)Ggg>Agg p.G481R ZNF395_uc003xgt.3_Missense_Mutation_p.G481R|ZNF395_uc003xgr.3_Missense_Mutation_p.G481R|ZNF395_uc003xgs.3_Missense_Mutation_p.G481R NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN Homo sapiens zinc finger protein 395 (ZNF395), mRNA. 481 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.G481W(2) cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) TTAGCCTCCCCTCGGGCTTTC 0.627000 45 16 0 0 0.007413 0 0 TNFRSF8 943 broad.mit.edu 37 1 12186103 12186103 + Missense_Mutation SNP C T T rs140319459 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:12186103C>T uc001atq.3 + 10 1471 c.1249C>T c.(1249-1251)Cgg>Tgg p.R417W TNFRSF8_uc010obc.2_Missense_Mutation_p.R306W|TNFRSF8_uc001atr.3_5'UTR|TNFRSF8_uc001ats.3_5'UTR NM_001243 NP_001234 P28908 TNR8_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA. 417 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) GAAGCGAATTCGGCAGAGTAA 0.632000 96 41 0 0 0.008740 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090792 115090792 + Missense_Mutation SNP T C C rs139821586 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr13:115090792T>C uc001vuv.3 + 2 1807 c.1475T>C c.(1474-1476)gTc>gCc p.V492A CHAMP1_uc010tko.2_Missense_Mutation_p.V492A|CHAMP1_uc010ahb.3_Missense_Mutation_p.V492A|CHAMP1_uc021rmx.1_Missense_Mutation_p.V492A NM_032436 NP_115812 Q96JM3 ZN828_HUMAN Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA. 492 Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding CAGAAACCTGTCTTCCCTGAG 0.502000 157 70 0 0 0.014410 0 0 VASH2 79805 broad.mit.edu 37 1 213146088 213146088 + Missense_Mutation SNP T G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:213146088T>G uc001hjy.3 + 4 868 c.664T>G c.(664-666)Ttt>Gtt p.F222V VASH2_uc001hjv.2_Non-coding_Transcript|VASH2_uc001hjx.3_Missense_Mutation_p.F157V|VASH2_uc010ptn.2_Missense_Mutation_p.F118V|VASH2_uc001hjw.3_Missense_Mutation_p.F178V NM_001136475 NP_001129947 Q86V25 VASH2_HUMAN Homo sapiens vasohibin 2 (VASH2), transcript variant 3, mRNA. 222 positive regulation of angiogenesis|positive regulation of endothelial cell proliferation cytoplasm endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986) GCCATTGACTTTTCGGACTCT 0.498000 30 10 0 0 0.008291 0 0 GPR113 165082 broad.mit.edu 37 2 26533824 26533824 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:26533824C>T uc002rhe.4 - 10 2772 c.2772G>A c.(2770-2772)ggG>ggA p.G924G GPR113_uc010yky.1_Silent_p.G855G|GPR113_uc002rhb.1_Silent_p.G527G|GPR113_uc010eyk.1_Silent_p.G725G|GPR113_uc002rhc.1_Silent_p.G527G|GPR113_uc002rhd.1_Non-coding_Transcript NM_001145168 NP_001138640 Q8IZF5 GP113_HUMAN Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA. 924 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTATAACGCCCCTCCCTTCC 0.597000 20 8 0 0 0.006214 0 0 OR2J2 26707 broad.mit.edu 37 6 29141485 29141485 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:29141485G>A uc011dlm.2 + 0 175 c.73G>A c.(73-75)Gaa>Aaa p.E25K NM_030905 NP_112167 O76002 OR2J2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA. 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 GCCTCAGCTGGAAGTAGTTCT 0.378000 112 28 0 0 0.006320 0 0 ACRC 93953 broad.mit.edu 37 X 70823686 70823686 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:70823686G>A uc004eae.2 + 7 1060 c.559G>A c.(559-561)Gat>Aat p.D187N BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN Homo sapiens acidic repeat containing (ACRC), mRNA. 187 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) TGATGATTCGGATGTTCCCGA 0.493000 201 22 0 0 0.014323 0 0 TADA2A 6871 broad.mit.edu 37 17 35825629 35825629 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:35825629C>T uc002hnv.3 + 10 1176 c.807C>T c.(805-807)ttC>ttT p.F269F TADA2A_uc002hnt.3_Silent_p.F269F|TADA2A_uc002hnu.1_Silent_p.F269F|TADA2A_uc002hnw.3_Silent_p.F168F NM_001488 NP_001479 O75478 TAD2A_HUMAN Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA. 269 histone H3 acetylation|transcription from RNA polymerase II promoter PCAF complex|chromosome DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 ATGACAAATTCATTGAAAGCC 0.413000 49 18 0 0 0.008871 0 0 PBX4 80714 broad.mit.edu 37 19 19681003 19681003 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:19681003C>T uc002nmy.3 - 3 834 c.547G>A c.(547-549)Ggc>Agc p.G183S PBX4_uc010xra.2_Missense_Mutation_p.G18S|PBX4_uc010xqz.2_Non-coding_Transcript NM_025245 NP_079521 Q9BYU1 PBX4_HUMAN Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA. 183 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 CTGAACTTGCCGTGAATGGCG 0.607000 49 11 0 0 0.010729 0 0 CORO7-PAM16 100529144 broad.mit.edu 37 16 4412725 4412725 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:4412725G>A uc002cwf.3 - 14 1733 c.1290C>T c.(1288-1290)tcC>tcT p.S430S CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Silent_p.S210S|CORO7-PAM16_uc002cwh.4_Silent_p.S430S|CORO7-PAM16_uc010uxh.2_Silent_p.S412S|CORO7-PAM16_uc010uxi.2_Silent_p.S345S|CORO7-PAM16_uc002cwi.1_Silent_p.S210S|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Silent_p.S210S NM_001201479 NP_001188408 Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA. AACTGGGAGGGGAAGAGAAAC 0.667000 12 4 0 0 0.009096 0 0 AASDH 132949 broad.mit.edu 37 4 57219614 57219614 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:57219614G>A uc003hbn.3 - 8 1685 c.1532C>T c.(1531-1533)cCg>cTg p.P511L AASDH_uc010ihb.3_Missense_Mutation_p.P26L|AASDH_uc003hbo.3_Missense_Mutation_p.P411L|AASDH_uc011caa.2_Missense_Mutation_p.P358L|AASDH_uc011cab.2_Missense_Mutation_p.P26L|AASDH_uc010ihc.3_Missense_Mutation_p.P511L|AASDH_uc003hbp.3_Missense_Mutation_p.P511L NM_181806 NP_861522 Q4L235 ACSF4_HUMAN Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA. 511 fatty acid metabolic process ATP binding|acid-thiol ligase activity|acyl carrier activity|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) AAGCTCATCCGGGACTGCATG 0.338000 36 4 0 0 0.009096 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011584 46011584 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:46011584C>T uc002zfm.3 - 0 803 c.782G>A c.(781-783)tGc>tAc p.C261Y TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198688 NP_941961 P60371 KR106_HUMAN Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA. 261 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGAGGAGGTGCAGCAAGCTGG 0.647000 131 39 0 0 0.009718 0 0 PLEC 5339 broad.mit.edu 37 8 144997325 144997325 + Missense_Mutation SNP C G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:144997325C>G uc003zaf.1 - 30 7353 c.7183G>C c.(7183-7185)Gac>Cac p.D2395H PLEC_uc003zab.1_Missense_Mutation_p.D2258H|PLEC_uc003zac.1_Missense_Mutation_p.D2262H|PLEC_uc003zad.2_Missense_Mutation_p.D2258H|PLEC_uc003zae.1_Missense_Mutation_p.D2226H|PLEC_uc003zag.1_Missense_Mutation_p.D2236H|PLEC_uc003zah.2_Missense_Mutation_p.D2244H|PLEC_uc003zaj.2_Missense_Mutation_p.D2285H NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 2395 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TTGTCCTTGTCACGCAAGATG 0.637000 33 7 0 0 0.001984 0 0 REG1B 5968 broad.mit.edu 37 2 79314027 79314027 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:79314027G>A uc002sny.2 - 2 206 c.94C>T c.(94-96)Ccc>Tcc p.P32S REG1B_uc010ffv.1_Missense_Mutation_p.P32S|REG1B_uc010ffw.3_Missense_Mutation_p.P32S NM_006507 NP_006498 P48304 REG1B_HUMAN Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA. 32 cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 CTGATTCGGGGATTAGGCAGC 0.493000 95 37 0 0 0.006999 0 0 YLPM1 56252 broad.mit.edu 37 14 75283808 75283808 + Missense_Mutation SNP G C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:75283808G>C uc001xqj.4 + 13 5984 c.5860G>C c.(5860-5862)Gag>Cag p.E1954Q YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Missense_Mutation_p.E437Q NM_019589 NP_062535 P49750 YLPM1_HUMAN Homo sapiens YLP motif containing 1 (YLPM1), mRNA. 1759 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CAAGGGATTTGAGGTAGAAGC 0.358000 21 6 0 0 0.001168 0 0 PAGE2B 389860 broad.mit.edu 37 X 55116530 55116530 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:55116530C>T uc004duf.1 + 1 125 c.77C>T c.(76-78)tCt>tTt p.S26F PAGE2B_uc022bxk.1_Intron NM_207339 NP_997222 Q5JRK9 GGEE3_HUMAN Homo sapiens P antigen family, member 2 (prostate associated) (PAGE2), mRNA. 26 lung(3) 3 CCGGTTGGATCTGTGATTGTG 0.353000 35 5 0 0 0.001168 0 0 AFF2 2334 broad.mit.edu 37 X 148068951 148068951 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:148068951G>A uc004fcp.3 + 19 4157 c.3678G>A c.(3676-3678)ggG>ggA p.G1226G AFF2_uc004fcq.3_Silent_p.G1216G|AFF2_uc004fcr.3_Silent_p.G1187G|AFF2_uc011mxb.2_Silent_p.G1191G|AFF2_uc004fcs.3_Silent_p.G1191G|AFF2_uc011mxc.2_Silent_p.G867G NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 1226 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) ACGCAATGGGGAACTGTAACA 0.522000 111 16 0 0 0.008871 0 0 CD163L1 283316 broad.mit.edu 37 12 7527496 7527496 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:7527496G>A uc010sge.2 - 11 3081 c.3055C>T c.(3055-3057)Cca>Tca p.P1019S CD163L1_uc001qsy.3_Missense_Mutation_p.P1009S NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 1009 extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 GCGAGGCATGGAAACAGTGGC 0.458000 50 15 0 0 0.004990 0 0 TMEM156 80008 broad.mit.edu 37 4 38995373 38995373 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:38995373C>T uc003gto.3 - 2 712 c.604G>A c.(604-606)Gag>Aag p.E202K TMEM156_uc010ifj.3_Missense_Mutation_p.E202K NM_024943 NP_079219 Q8N614 TM156_HUMAN Homo sapiens transmembrane protein 156 (TMEM156), mRNA. 202 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 ATATCCATCTCTAGGTGCAAA 0.333000 38 12 0 0 0.010729 0 0 KRT24 192666 broad.mit.edu 37 17 38854842 38854842 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:38854842C>T uc002hvd.3 - 6 1479 c.1422G>A c.(1420-1422)agG>agA p.R474R NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN Homo sapiens keratin 24 (KRT24), mRNA. 474 Tail. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) ATACCAGATCCCTGGATCCCA 0.373000 101 69 0 0 0.014410 0 0 SLC35B4 84912 broad.mit.edu 37 7 133981163 133981163 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:133981163G>A uc003vrn.3 - 8 1053 c.729C>T c.(727-729)ctC>ctT p.L243L SLC35B4_uc010lmk.3_Silent_p.L107L NM_032826 NP_116215 Q969S0 S35B4_HUMAN Homo sapiens solute carrier family 35, member B4 (SLC35B4), mRNA. 243 Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity large_intestine(1)|lung(2)|skin(1)|stomach(1) 5 TGTTCATGAGGAGGTAGAACC 0.438000 16 18 0 0 0.010504 0 0 CYP4B1 1580 broad.mit.edu 37 1 47278210 47278210 + Missense_Mutation SNP A C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:47278210A>C uc001cqn.4 + 3 494 c.410A>C c.(409-411)cAc>cCc p.H137P CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.H137P|CYP4B1_uc009vym.3_Missense_Mutation_p.H122P|CYP4B1_uc010omk.2_5'UTR|CYP4B1_uc010oml.1_5'UTR NM_001099772 NP_001093242 P13584 CP4B1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA. 137 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) TGGTTGCAGCACCGCAAGCTG 0.602000 37 8 0 0 0.003080 0 0 VCAN 1462 broad.mit.edu 37 5 82837484 82837484 + Missense_Mutation SNP G C C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:82837484G>C uc003kii.3 + 7 9018 c.8662G>C c.(8662-8664)Gag>Cag p.E2888Q VCAN_uc003kij.3_Missense_Mutation_p.E1901Q|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1552Q NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 2888 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCACATAACTGAGCCTCCCTC 0.388000 43 14 0 0 0.002450 0 0 abParts 0 broad.mit.edu 37 14 107062359 107062359 + RNA SNP G T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:107062359G>T uc021ser.1 - 150 c.6627C>A Parts of antibodies, mostly variable regions. AGACAGCGCAGATGAGGGACA 0.607000 57 6 0.000157383 0.000190447 0.003080 1 0 SFTPB 6439 broad.mit.edu 37 2 85892783 85892783 + Silent SNP G A A rs147209702 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:85892783G>A uc002sqj.3 - 5 664 c.564C>T c.(562-564)ctC>ctT p.L188L SFTPB_uc002sqi.3_Silent_p.L188L|SFTPB_uc002sqh.3_Silent_p.L188L NM_000542 NP_942140 P07988 PSPB_HUMAN Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA. 176 organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 CAGGGAGGACGAGCTTGTCCA 0.667000 49 13 0 0 0.001855 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431165 56431165 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:56431165G>A uc010rjm.2 + 0 4 c.4G>A c.(4-6)Gat>Aat p.D2N OR8U8_uc001nit.2_Intron NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA. 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TGAAGCAATGGATAAAGAAAA 0.393000 45 15 0 0 0.003163 0 0 TRAV14DV4 28669 broad.mit.edu 37 14 22392580 22392580 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:22392580G>A uc010aiz.2 + 1 178 c.103G>A c.(103-105)Gaa>Aaa p.E35K TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|TRAV14DV4_uc021rpk.1_5'Flank SubName: Full=HADV14S1; Flags: Fragment; GTTCGTGCAGGAAAAGGAGGC 0.428000 38 14 0 0 0.001855 0 0 KDM3B 51780 broad.mit.edu 37 5 137766083 137766083 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:137766083C>T uc003lcy.1 + 21 5239 c.5039C>T c.(5038-5040)gCt>gTt p.A1680V KDM3B_uc010jew.1_Missense_Mutation_p.A1336V|KDM3B_uc011cys.1_Missense_Mutation_p.A712V NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA. 1680 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 CTAGGTGATGCTGTTTTCATA 0.512000 98 29 0 0 0.008361 0 0 TXNL1 9352 broad.mit.edu 37 18 54291641 54291641 + Nonsense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr18:54291641G>A uc002lgg.3 - 2 846 c.247C>T c.(247-249)Cga>Tga p.R83* TXNL1_uc010xdz.2_Non-coding_Transcript|TXNL1_uc002lgh.3_Non-coding_Transcript|TXNL1_uc002lgi.3_Nonsense_Mutation_p.R83*|TXNL1_uc002lgj.1_Nonsense_Mutation_p.R83* NM_004786 NP_004777 O43396 TXNL1_HUMAN Homo sapiens thioredoxin-like 1 (TXNL1), transcript variant 1, mRNA. 83 Thioredoxin. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport cytoplasm electron carrier activity|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211) ACTTTGTTTCGAAAAAACAAA 0.373000 106 34 0 0 0.003755 0 0 GLB1 2720 broad.mit.edu 37 3 33058329 33058329 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:33058329G>A uc011axk.1 - 14 1612 c.1495C>T c.(1495-1497)Ccc>Tcc p.P499S GLB1_uc003cfh.1_Missense_Mutation_p.P421S|GLB1_uc003cfi.1_Missense_Mutation_p.P451S|GLB1_uc003cfj.1_Missense_Mutation_p.P320S NM_001079811 NP_001073279 P16278 BGAL_HUMAN Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA. 451 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) ACTCCCTGGGGGATCTGTGGG 0.478000 38 25 0 0 0.002780 0 0 COL12A1 1303 broad.mit.edu 37 6 75899338 75899338 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:75899338C>T uc021zbv.1 - 4 623 c.588G>A c.(586-588)caG>caA p.Q196Q COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Silent_p.Q196Q|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'Flank NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 196 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TTTGGTAGTACTGATTTAAGT 0.358000 61 12 0 0 0.013537 0 0 CRY2 1408 broad.mit.edu 37 11 45891260 45891260 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:45891260C>T uc010rgn.2 + 6 1171 c.1149C>T c.(1147-1149)atC>atT p.I383I CRY2_uc009ykw.3_Silent_p.I301I|CRY2_uc010rgo.2_Silent_p.I105I NM_021117 NP_066940 Q49AN0 CRY2_HUMAN Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA. 362 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 TTGATGCCATCATGACCCAAC 0.652000 88 20 0 0 0.012319 0 0 HIVEP3 59269 broad.mit.edu 37 1 42050146 42050146 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:42050146C>T uc001cgz.4 - 3 1536 c.323G>A c.(322-324)gGc>gAc p.G108D HIVEP3_uc001cha.4_Missense_Mutation_p.G108D|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 108 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTCAGGTTTGCCAGGCGACAT 0.622000 128 33 0 0 0.013726 0 0 HERC3 8916 broad.mit.edu 37 4 89588561 89588561 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:89588561C>T uc003hrw.1 + 12 1531 c.1365C>T c.(1363-1365)atC>atT p.I455I HERC3_uc011cdn.1_Silent_p.I337I|HERC3_uc011cdo.1_5'UTR NM_014606 NP_055421 Q15034 HERC3_HUMAN Homo sapiens hect domain and RLD 3 (HERC3), mRNA. 455 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) GTCCCAAAATCCCTGGGATTG 0.313000 26 13 0 0 0.004007 0 0 TAL2 6887 broad.mit.edu 37 9 108424991 108424991 + Missense_Mutation SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:108424991G>A uc004bct.3 + 0 254 c.214G>A c.(214-216)Ggg>Agg p.G72R NM_005421 NP_005412 Q16559 TAL2_HUMAN Homo sapiens T-cell acute lymphocytic leukemia 2 (TAL2), mRNA. 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding GGCTGCTCAGGGGAACATTCT 0.547000 T TRB@ T-ALL 36 18 0 0 0.010504 0 0 KLK6 5653 broad.mit.edu 37 19 51470570 51470571 + Missense_Mutation DNP CC TT TT TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:51470570_51470571CC>TT uc002puh.3 - 1 143_144 c.78_79GG>AA c.(76-81)gaggag>gaAAag p.E27K KLK6_uc010eoj.3_Missense_Mutation_p.E18K|KLK6_uc002pui.3_Missense_Mutation_p.E18K|KLK6_uc002puj.3_5'UTR|KLK6_uc010ycn.2_Intron|KLK6_uc002pul.3_Missense_Mutation_p.E18K|KLK6_uc002pum.3_Intron NM_001012965 NP_001012983 Q92876 KLK6_HUMAN Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA. 18 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) TTATTCTGCTCCTCTGCCCAGG 0.564000 29 15 0 0 0.004672 0 0 OR13C4 138804 broad.mit.edu 37 9 107288807 107288807 + Silent SNP C T T rs141274906 by1000genomes TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:107288807C>T uc011lvn.2 - 0 684 c.684G>A c.(682-684)acG>acA p.T228T NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA. 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TGGCCGAGTTCGTTCGCAAGA 0.408000 88 27 0 0 0.005443 0 0 CECR2 27443 broad.mit.edu 37 22 17976561 17976561 + Silent SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr22:17976561C>T uc010gqw.1 + 1 222 c.222C>T c.(220-222)atC>atT p.I74I CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA. 116 DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GGGTGGAGATCCTGCACCGAC 0.542000 65 43 0 0 0.014410 0 0 GPRC6A 222545 broad.mit.edu 37 6 117114015 117114015 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:117114015C>T uc003pxj.1 - 5 2093 c.2071G>A c.(2071-2073)Gat>Aat p.D691N GPRC6A_uc003pxk.1_Missense_Mutation_p.D516N|GPRC6A_uc003pxl.1_Missense_Mutation_p.D620N NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 691 response to amino acid stimulus G-protein coupled receptor activity p.D691E(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AATTTGGGATCAAAGCTGAAG 0.418000 33 7 0 0 0.004482 0 0 ASPG 374569 broad.mit.edu 37 14 104571026 104571026 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:104571026C>T uc001yop.2 + 8 1089 c.1004C>T c.(1003-1005)tCg>tTg p.S335L ASPG_uc001yoo.2_Missense_Mutation_p.S363L|ASPG_uc001yoq.2_Missense_Mutation_p.S335L|ASPG_uc001yor.2_Missense_Mutation_p.S335L NM_001080464 NP_001073933 Q86U10 LPP60_HUMAN Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA. 335 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity p.S335L(2)|p.S363L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 GCCAAGCTATCGTATGTGCTG 0.662000 25 9 0 0 0.006214 0 0 SLC4A10 57282 broad.mit.edu 37 2 162815020 162815020 + Nonsense_Mutation SNP T G G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:162815020T>G uc002ubx.4 + 20 3001 c.2817T>G c.(2815-2817)taT>taG p.Y939* SLC4A10_uc010zcs.2_Nonsense_Mutation_p.Y920*|SLC4A10_uc002uby.4_Nonsense_Mutation_p.Y909* NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 939 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CAGTGCTATATGGAGTGTTTC 0.348000 32 7 0 0 0.003080 0 0 CATSPER1 117144 broad.mit.edu 37 11 65788040 65788040 + Silent SNP G A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:65788040G>A uc001ogt.3 - 6 2124 c.1986C>T c.(1984-1986)ttC>ttT p.F662F NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA. 662 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 CTCACTTGAGGAAGATGAAGT 0.592000 27 10 0 0 0.006214 0 0 ADAM21 8747 broad.mit.edu 37 14 70925765 70925765 + Missense_Mutation SNP A T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:70925765A>T uc021rvq.1 + 0 1549 c.1549A>T c.(1549-1551)Att>Ttt p.I517F ADAM21_uc001xmd.3_Missense_Mutation_p.I517F NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA. 517 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TTGCAGGGAGATTTTTGGTAA 0.418000 48 6 0 0 0.006214 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21036435 21036435 + Missense_Mutation SNP T A A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:21036435T>A uc010sil.2 + 10 1646 c.1581T>A c.(1579-1581)gaT>gaA p.D527E SLCO1B3_uc001rek.3_Missense_Mutation_p.D527E|SLCO1B3_uc001rel.3_Missense_Mutation_p.D527E|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 527 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GCCCAAGAGATAATACTTGTA 0.358000 35 17 0 0 0.006122 0 0 RARA 5914 broad.mit.edu 37 17 38508593 38508593 + Missense_Mutation SNP C T T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:38508593C>T uc021txb.1 + 4 1003 c.641C>T c.(640-642)tCa>tTa p.S214L RARA_uc002huk.2_Missense_Mutation_p.S214L|RARA_uc002hul.4_Missense_Mutation_p.S214L|RARA_uc010wfe.2_Missense_Mutation_p.S117L|RARA_uc002hun.2_Missense_Mutation_p.S209L NM_001145301 NP_001138773 P10276 RARA_HUMAN Homo sapiens retinoic acid receptor, alpha (RARA), transcript variant 3, mRNA. 214 Ligand-binding. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of T-helper 2 cell differentiation|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) AACAACAGCTCAGAACAACGT 0.582000 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL 58 30 0 0 0.008361 0 0 CASZ1 54897 broad.mit.edu 37 1 10720200 10720200 + Frame_Shift_Del DEL A - - TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:10720200delA uc001aro.3 - 5 1219 c.899delT c.(898-900)gtcfs p.V300fs CASZ1_uc001arp.1_Frame_Shift_Del_p.V300fs|CASZ1_uc009vmx.2_Frame_Shift_Del_p.V324fs|CASZ1_uc001arq.1_Frame_Shift_Del_p.V159fs NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CTGCATCTGGACACTGCTGTG 0.647 --- 141 --- --- 32 --- NAIP 4671 broad.mit.edu 37 5 70406506 70406507 + Frame_Shift_Del DEL AT - - TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:70406506_70406507delAT uc003kat.1 - 0 1357_1358 c.91_92delAT c.(91-93)atgfs p.M31fs DQ570835_uc021yai.1_Non-coding_Transcript NM_022892 NP_075043 Q13075 BIRC1_HUMAN Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 2, mRNA. 419 anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) AAGCAAAGACATGTGGCGGAAA 0.500 --- 8 --- --- 4 --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T - - TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:45247389delT uc002ile.4 - 3 398 c.271delA c.(271-273)atcfs p.I91fs CDC27_uc002ild.4_Frame_Shift_Del_p.I91fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.I91fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.I30fs|CDC27_uc010wkq.1_Non-coding_Transcript NM_001114091 NP_001107563 P30260 CDC27_HUMAN Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA. 91 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.I91fs*54(2) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCAGATAAGATTTGTTCCCCT 0.323 --- 166 --- --- 7 --- C19orf44 84167 broad.mit.edu 37 19 16620727 16620727 + Frame_Shift_Del DEL G - - TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:16620727delG uc002neh.1 + 4 1640 c.1567delG c.(1567-1569)gtgfs p.V523fs MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Frame_Shift_Del_p.V523fs|C19orf44_uc002neg.3_Frame_Shift_Del_p.V523fs|C19orf44_uc010eai.1_Non-coding_Transcript NM_032207 NP_115583 Q9H6X5 CS044_HUMAN Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA. 523 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 GGGCAGGCACGTGACAAGAGT 0.562 --- 75 --- --- 16 --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA - - TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:45911859_45911861delGAA uc002pbr.1 + 2 645_647 c.639_641delGAA c.(637-642)cggaag>cgg p.K219del PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_In_Frame_Del_p.K217del|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR NM_012099 NP_036231 O15446 RPA34_HUMAN Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA. 217 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway RNA polymerase I transcription factor complex|chromosome DNA-directed RNA polymerase activity p.N218fs*58(2) breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 --- 165 --- --- 9 ---