Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut KHDRBS2 202559 broad.mit.edu 37 6 62611214 62611214 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:62611214C>T ENST00000281156.4 - 5 824 c.546G>A c.(544-546)gaG>gaA p.E182E NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) GACCAGAGTCCTCTGAGCCAT 0.393000 15 39 0 0 0.000308642 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717555 13717555 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:13717555G>A ENST00000279593.3 - 13 2826 c.2617C>T c.(2617-2619)Cat>Tat p.H873Y NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 873 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCCACCCCATGGATGCAGCTG 0.532000 26 46 0 0 0.000586117 0 0 BCHE 590 broad.mit.edu 37 3 165491209 165491209 + Missense_Mutation SNP G G C TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:165491209G>C ENST00000264381.3 - 4 1936 c.1770C>G c.(1768-1770)aaC>aaG p.N590K BCHE_ENST00000540653.1_Missense_Mutation_p.N52K NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 590 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TAGTGTAATCGTTAAATTGAT 0.343000 12 23 0 0 6.40141e-05 0 0 NELL1 4745 broad.mit.edu 37 11 21555941 21555941 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:21555941G>A ENST00000298925.5 + 17 1904 c.1751G>A c.(1750-1752)gGa>gAa p.G584E NELL1_ENST00000357134.5_Missense_Mutation_p.G556E|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000325319.5_Missense_Mutation_p.G499E|NELL1_ENST00000529218.1_3'UTR Q92832 NELL1_HUMAN NEL-like 1 (chicken) 556 EGF-like 5; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TGTTCAGAGGGAATCATTGAG 0.458000 21 46 0 0 0.000586117 0 0 MAN2A1 4124 broad.mit.edu 37 5 109153015 109153015 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr5:109153015C>T ENST00000261483.4 + 13 3037 c.1985C>T c.(1984-1986)tCg>tTg p.S662L NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 662 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) GACCGAATCTCGTTGGTCTCA 0.413000 28 18 0 0 0.000279167 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560478 44560478 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr18:44560478G>A ENST00000332567.4 - 1 1510 c.1158C>T c.(1156-1158)taC>taT p.Y386Y KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 386 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CGTAGGTGAGGTATTTTTCAC 0.483000 21 51 0 0 0.000175454 0 0 CLSTN3 9746 broad.mit.edu 37 12 7310207 7310207 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:7310207C>T ENST00000537408.1 + 16 3224 c.2686C>T c.(2686-2688)Cca>Tca p.P896S CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000266546.6_Missense_Mutation_p.P884S Q9BQT9 CSTN3_HUMAN calsyntenin 3 884 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 CGGCGGGCCTCCAGGGGCCTC 0.642000 7 7 0 0 0.000274275 0 0 CDH18 1016 broad.mit.edu 37 5 19544014 19544014 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr5:19544014G>A ENST00000507958.1 - 11 2344 c.1354C>T c.(1354-1356)Cca>Tca p.P452S CDH18_ENST00000382275.1_Missense_Mutation_p.P452S|CDH18_ENST00000511273.1_Missense_Mutation_p.P452S|CDH18_ENST00000506372.1_Missense_Mutation_p.P452S|CDH18_ENST00000502796.1_Missense_Mutation_p.P452S|CDH18_ENST00000274170.4_Missense_Mutation_p.P452S Q13634 CAD18_HUMAN cadherin 18, type 2 452 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TTGTACCATGGAGTTTCTTCT 0.368000 16 71 0 0 0.000566183 0 0 THYN1 29087 broad.mit.edu 37 11 134120208 134120208 + Silent SNP G G T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:134120208G>T ENST00000341541.3 - 3 713 c.252C>A c.(250-252)ccC>ccA p.P84P THYN1_ENST00000392594.3_Silent_p.P84P|THYN1_ENST00000392595.2_Silent_p.P84P|THYN1_ENST00000352327.5_Silent_p.P84P NM_014174.2 NP_054893.1 Q9P016 THYN1_HUMAN thymocyte nuclear protein 1 84 nucleus endometrium(2)|kidney(1)|lung(3)|pancreas(1) 7 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207) TTGTCTGTTTGGGCTGTGCTT 0.483000 15 35 2.62699e-14 2.88209e-13 0.000308642 1 0 PLRG1 5356 broad.mit.edu 37 4 155461135 155461135 + Missense_Mutation SNP C C T rs140568729 TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:155461135C>T ENST00000499023.2 - 11 1136 c.1010G>A c.(1009-1011)aGa>aAa p.R337K PLRG1_ENST00000302078.5_Missense_Mutation_p.R328K|PLRG1_ENST00000393905.2_Missense_Mutation_p.R337K NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 337 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) AGCCTGACATCTCACTGTAGC 0.333000 23 67 0 0 0.000184323 0 0 ALAS2 212 broad.mit.edu 37 X 55051268 55051268 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chrX:55051268G>A ENST00000330807.5 - 3 324 c.187C>T c.(187-189)Cca>Tca p.P63S ALAS2_ENST00000396198.3_Missense_Mutation_p.P87S|ALAS2_ENST00000335854.4_Missense_Mutation_p.P63S NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 63 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) GCCCAAGATGGAGAATCTATG 0.473000 31 11 0 0 0.000339439 0 0 AHDC1 27245 broad.mit.edu 37 1 27873963 27873963 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:27873963G>A ENST00000374011.2 - 6 5632 c.4664C>T c.(4663-4665)tCg>tTg p.S1555L AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.S1555L NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1555 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GGGCAGCAGCGAGTCCCTCGG 0.716000 12 30 0 0 0.00010058 0 0 STRIP1 85369 broad.mit.edu 37 1 110590400 110590400 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:110590400C>T ENST00000369795.3 + 15 1592 c.1570C>T c.(1570-1572)Ctc>Ttc p.L524F STRIP1_ENST00000461054.1_3'UTR|STRIP1_ENST00000369796.1_Missense_Mutation_p.L429F NM_033088.2 NP_149079.2 striatin interacting protein 1 CCAGATTGCCCTCCTGAAGAT 0.532000 4 6 0 0 0.00024832 0 0 TMC5 79838 broad.mit.edu 37 16 19451378 19451378 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:19451378G>A ENST00000396229.2 + 3 767 c.18G>A c.(16-18)agG>agA p.R6R TMC5_ENST00000542583.2_Silent_p.R6R|TMC5_ENST00000541464.1_Silent_p.R6R|TMC5_ENST00000381414.4_Silent_p.R6R NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 6 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CCTACTACAGGAATAACTGGT 0.448000 18 45 0 0 0.000958276 0 0 LRRC73 221424 broad.mit.edu 37 6 43474984 43474984 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:43474984C>T ENST00000372441.1 - 6 1843 c.943G>A c.(943-945)Gag>Aag p.E315K NM_001012974.1 NP_001012992.1 Q5JTD7 CF154_HUMAN leucine rich repeat containing 73 315 AGTCACATCTCGGTCTCAGCC 0.557000 OREG0017453 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 18 0 0 3.59834e-05 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390652 61390652 + RNA SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr18:61390652G>A ENST00000544088.1 + 0 1260 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GGTTGAGCAAGGCTCAGAGTT 0.507000 23 51 0 0 0.00047179 0 0 CLUH 23277 broad.mit.edu 37 17 2604766 2604766 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:2604766G>A ENST00000570628.1 - 6 784 c.679C>T c.(679-681)Ccg>Tcg p.P227S CLUH_ENST00000538975.1_Missense_Mutation_p.P227S|CLUH_ENST00000435359.1_Missense_Mutation_p.P227S|CLUH_ENST00000575014.1_Missense_Mutation_p.P159S clustered mitochondria (cluA/CLU1) homolog CGGTTCCCCGGGGGCGGGTTC 0.637000 5 10 0 0 0.000602214 0 0 PHLPP1 23239 broad.mit.edu 37 18 60506075 60506075 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr18:60506075G>A ENST00000400316.4 + 3 2077 c.296G>A c.(295-297)aGc>aAc p.S99N PHLPP1_ENST00000262719.5_Missense_Mutation_p.S611N|PHLPP1_ENST00000588953.1_3'UTR NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 611 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 GGACCCCAAAGCCAGACTTAC 0.428000 40 55 0 0 0.000319135 0 0 FYTTD1 84248 broad.mit.edu 37 3 197505288 197505288 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:197505288C>T ENST00000428395.2 + 9 971 c.538C>T c.(538-540)Cct>Tct p.P180S FYTTD1_ENST00000424384.2_Missense_Mutation_p.P204S|FYTTD1_ENST00000415708.2_Missense_Mutation_p.P245S|FYTTD1_ENST00000492360.1_3'UTR|FYTTD1_ENST00000241502.3_Missense_Mutation_p.P271S NM_001011537.2 NP_001011537.2 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 271 mRNA export from nucleus nuclear speck mRNA binding|protein binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) CAAGAAAGTTCCTAAAGGTGT 0.348000 14 28 0 0 0.000219431 0 0 TECTA 7007 broad.mit.edu 37 11 121016362 121016362 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:121016362C>T ENST00000392793.1 + 12 3913 c.3642C>T c.(3640-3642)ggC>ggT p.G1214G TECTA_ENST00000264037.2_Silent_p.G1214G|TECTA_ENST00000478058.1_3'UTR O75443 TECTA_HUMAN tectorin alpha 1214 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTGATTTTGGCCTGAAGGTTG 0.517000 24 52 0 0 0.000375601 0 0 OR8I2 120586 broad.mit.edu 37 11 55861032 55861032 + Silent SNP G G A rs145057566 byFrequency TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:55861032G>A ENST00000302124.2 + 1 280 c.249G>A c.(247-249)gtG>gtA p.V83V OR8I2_ENST00000560768.1_Silent_p.V83V Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) AGGCATTGGTGAATTTCCAAT 0.393000 41 84 0 0 0.000509022 0 0 FRG1B 284802 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 4 41 0 0 3.59834e-05 0 0 PTPN23 25930 broad.mit.edu 37 3 47453620 47453620 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:47453620C>T ENST00000265562.4 + 22 4187 c.4110C>T c.(4108-4110)ttC>ttT p.F1370F PTPN23_ENST00000431726.1_Silent_p.F1244F NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 1370 Tyrosine-protein phosphatase. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGCTGCGCTTCATCCAGGAGG 0.622000 19 34 0 0 0.000295444 0 0 DNAAF3 352909 broad.mit.edu 37 19 55676788 55676788 + Missense_Mutation SNP A A C TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:55676788A>C ENST00000527223.2 - 4 477 c.476T>G c.(475-477)aTg>aGg p.M159R DNAAF3_ENST00000455045.1_Missense_Mutation_p.M37R|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_Missense_Mutation_p.M91R|DNAAF3_ENST00000391720.4_Missense_Mutation_p.M138R NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 91 GAAGATCAGCATGTGTCGGGC 0.557000 13 31 0 0 0.000219431 0 0 NANOS2 339345 broad.mit.edu 37 19 46417587 46417587 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:46417587G>A ENST00000341294.2 - 1 449 c.365C>T c.(364-366)tCc>tTc p.S122F NM_001029861.2 NP_001025032.1 P60321 NANO2_HUMAN nanos homolog 2 (Drosophila) 122 germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|perinuclear region of cytoplasm RNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2) 6 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231) GCGGTAGAGGGACTGCTGGCC 0.667000 7 13 0 0 0.000274275 0 0 ABCB4 5244 broad.mit.edu 37 7 87041281 87041281 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr7:87041281G>A ENST00000265723.4 - 23 2963 c.2852C>T c.(2851-2853)tCc>tTc p.S951F ABCB4_ENST00000359206.3_Missense_Mutation_p.S951F|ABCB4_ENST00000358400.3_Intron|ABCB4_ENST00000545634.1_Missense_Mutation_p.S951F|ABCB4_ENST00000453593.1_Intron NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 951 ABC transmembrane type-1 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ACCGGCATAGGAAAAATACAT 0.343000 13 21 0 0 0.000151284 0 0 DNAH3 55567 broad.mit.edu 37 16 21071678 21071678 + Splice_Site SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:21071678C>T ENST00000261383.3 - 26 3720 c.e26-1 DNAH3_ENST00000415178.1_Splice_Site NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.?(2) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCACCATGCCCTATGGAGCAA 0.537000 43 91 0 0 0.000509022 0 0 TC2N 123036 broad.mit.edu 37 14 92251698 92251698 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:92251698G>A ENST00000435962.2 - 11 1493 c.1170C>T c.(1168-1170)ttC>ttT p.F390F TC2N_ENST00000340892.5_Silent_p.F390F|TC2N_ENST00000556018.1_Silent_p.F326F|TC2N_ENST00000360594.5_Silent_p.F390F NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 390 C2. nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) CCACCTTCACGAAAAAACCTA 0.323000 62 158 0 0 0.000781405 0 0 ATF7IP 55729 broad.mit.edu 37 12 14577479 14577479 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:14577479C>T ENST00000544627.1 + 2 974 c.654C>T c.(652-654)atC>atT p.I218I ATF7IP_ENST00000536444.1_Silent_p.I210I|ATF7IP_ENST00000543189.1_Silent_p.I210I|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Silent_p.I210I|ATF7IP_ENST00000540793.1_Silent_p.I210I Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 210 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 GTGATCCCATCCCAGGTGAAC 0.527000 27 79 0 0 0.000184323 0 0 JARID2 3720 broad.mit.edu 37 6 15501487 15501487 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:15501487C>T ENST00000341776.2 + 8 2539 c.2295C>T c.(2293-2295)gcC>gcT p.A765A JARID2_ENST00000397311.3_Silent_p.A593A|JARID2_ENST00000541660.1_Silent_p.A727A NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 765 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) ACGGCGTGGCCCCCAGGAACG 0.637000 19 54 0 0 0.000132079 0 0 FBLN1 2192 broad.mit.edu 37 22 45960832 45960832 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr22:45960832C>T ENST00000348697.2 + 15 1913 c.1766C>T c.(1765-1767)cCa>cTa p.P589L FBLN1_ENST00000442170.2_Missense_Mutation_p.P589L|FBLN1_ENST00000327858.6_Intron P23142 FBLN1_HUMAN fibulin 1 585 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) AGGGTTCTTCCATGGAAGCAG 0.542000 11 28 0 0 0.000151284 0 0 MYO7B 4648 broad.mit.edu 37 2 128339539 128339539 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:128339539C>T ENST00000389524.4 + 11 1207 c.1154C>T c.(1153-1155)tCc>tTc p.S385F MYO7B_ENST00000409816.2_Missense_Mutation_p.S385F|MYO7B_ENST00000428314.1_Missense_Mutation_p.S385F Q6PIF6 MYO7B_HUMAN myosin VIIB 385 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GTCACCAGGTCCCTGAACATT 0.612000 13 48 0 0 0.000308642 0 0 FLG 2312 broad.mit.edu 37 1 152282329 152282329 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:152282329C>T ENST00000368799.1 - 3 5068 c.5033G>A c.(5032-5034)gGa>gAa p.G1678E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1678 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGTCTTTCTCCTGGACTTGA 0.557000 Ichthyosis 96 213 0 0 0.000781405 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44219205 44219205 + Nonsense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:44219205C>T ENST00000371554.1 + 8 1388 c.1174C>T c.(1174-1176)Cga>Tga p.R392* HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.R392*|HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.R392* P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 392 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GAACATCTCCCGAGAAATGCT 0.463000 10 17 0 0 6.40141e-05 0 0 PSG7 5676 broad.mit.edu 37 19 43428937 43428937 + RNA SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:43428937G>A ENST00000406070.2 - 0 1379 NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) gggagaagatggaattggagg 0.408000 4 69 0 0 0.000274275 0 0 ARHGEF38 54848 broad.mit.edu 37 4 106510452 106510452 + Missense_Mutation SNP C C T rs145953652 byFrequency TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:106510452C>T ENST00000420470.2 + 2 388 c.244C>T c.(244-246)Cca>Tca p.P82S ARHGEF38_ENST00000265154.2_Missense_Mutation_p.P82S NM_001242729.1 NP_001229658.1 Q9NXL2 ARH38_HUMAN Rho guanine nucleotide exchange factor (GEF) 38 82 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3) 11 GACCTTAACCCCAGAGGAAGA 0.418000 21 36 0 0 0.000132079 0 0 HRH1 3269 broad.mit.edu 37 3 11300948 11300948 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:11300948C>T ENST00000397056.1 + 3 416 c.225C>T c.(223-225)atC>atT p.I75I HRH1_ENST00000431010.2_Silent_p.I75I|HRH1_ENST00000438284.2_Silent_p.I75I NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 75 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) CGGACTTGATCGTGGGTGCCG 0.572000 10 25 0 0 0.000673444 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128840469 128840469 + Missense_Mutation SNP G G A rs142674734 TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:128840469G>A ENST00000310343.9 - 22 4596 c.4597C>T c.(4597-4599)Cgt>Tgt p.R1533C ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1184C|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1184C NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1533 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding p.R1184C(1)|p.R1533C(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 GTGTTATAACGAAGACCCATG 0.542000 11 24 0 0 6.40141e-05 0 0 SLC26A11 284129 broad.mit.edu 37 17 78195397 78195397 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:78195397C>T ENST00000361193.3 + 3 318 c.38C>T c.(37-39)tCc>tTc p.S13F SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000546047.2_Missense_Mutation_p.S13F|SLC26A11_ENST00000411502.3_Missense_Mutation_p.S13F|SLC26A11_ENST00000572725.1_Missense_Mutation_p.S13F NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 13 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CAGGCCAGGTCCTCTGGCCCC 0.692000 5 9 0 0 8.12818e-05 0 0 EYA1 2138 broad.mit.edu 37 8 72184013 72184013 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:72184013G>A ENST00000340726.3 - 10 1585 c.946C>T c.(946-948)Ccc>Tcc p.P316S EYA1_ENST00000388740.3_Missense_Mutation_p.P283S|EYA1_ENST00000388741.2_Missense_Mutation_p.P282S|EYA1_ENST00000388742.4_Missense_Mutation_p.P316S|EYA1_ENST00000303824.7_Missense_Mutation_p.P310S|EYA1_ENST00000419131.1_Missense_Mutation_p.P311S|EYA1_ENST00000388743.2_Missense_Mutation_p.P315S NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 316 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GAATCTGGGGGAGGTGAAGGA 0.453000 25 64 0 0 0.000184323 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26238035 26238035 + RNA SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:26238035C>T ENST00000519902.1 - 0 1913 CACTTCCAACCTCTCCTTACA 0.398000 9 20 0 0 0.000442599 0 0 LAMB4 22798 broad.mit.edu 37 7 107708553 107708553 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr7:107708553C>T ENST00000388781.3 - 19 2437 c.2354G>A c.(2353-2355)gGa>gAa p.G785E LAMB4_ENST00000205386.4_Missense_Mutation_p.G785E|LAMB4_ENST00000388780.3_Missense_Mutation_p.G785E NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 785 Laminin EGF-like 6. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GCACTGGCCTCCAAGTCGGCT 0.562000 39 80 0 0 0.000191422 0 0 CGN 57530 broad.mit.edu 37 1 151509821 151509821 + Nonstop_Mutation SNP A A T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:151509821A>T ENST00000271636.7 + 21 3744 c.3611A>T c.(3610-3612)tAg>tTg p.*1204L NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 0 myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AGCTCCTGTTAGCTCGTGGTC 0.557000 10 27 0 0 0.000219431 0 0 RP1 6101 broad.mit.edu 37 8 55542087 55542087 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:55542087C>T ENST00000220676.1 + 4 5793 c.5645C>T c.(5644-5646)tCt>tTt p.S1882F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1882 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TACCCTGTCTCTGATGATGCT 0.403000 13 29 0 0 0.000151284 0 0 SCRN3 79634 broad.mit.edu 37 2 175263026 175263026 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:175263026C>T ENST00000272732.6 + 2 97 c.15C>T c.(13-15)tcC>tcT p.S5S SCRN3_ENST00000409673.3_Intron NM_001193528.1|NM_024583.4 NP_001180457.1|NP_078859.2 Q0VDG4 SCRN3_HUMAN secernin 3 5 proteolysis dipeptidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3) 13 OV - Ovarian serous cystadenocarcinoma(117;0.229) AACCTTTTTCCTGTGACACTT 0.294000 17 61 0 0 0.00074312 0 0 PRDM13 59336 broad.mit.edu 37 6 100057097 100057097 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:100057097G>A ENST00000369214.1 + 3 602 c.341G>A c.(340-342)gGg>gAg p.G114E PRDM13_ENST00000369215.4_Missense_Mutation_p.G104E NM_021620.3 NP_067633.2 Q9H4Q3 PRD13_HUMAN PR domain containing 13 104 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) GTCCAGCCAGGGGAGGAGCTG 0.512000 6 13 0 0 8.12818e-05 0 0 PBRM1 55193 broad.mit.edu 37 3 52598133 52598133 + Missense_Mutation SNP T T G TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:52598133T>G ENST00000356770.4 - 22 3714 c.3712A>C c.(3712-3714)Aaa>Caa p.K1238Q SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.K1245Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.K1270Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.K1245Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.K1270Q|PBRM1_ENST00000409767.1_Missense_Mutation_p.K1285Q|PBRM1_ENST00000296302.7_Missense_Mutation_p.K1270Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.K1285Q Q86U86 PB1_HUMAN polybromo 1 1270 BAH 2. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding 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) CCTTTGAATTTCTTCATCTGC 0.398000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 30 35 0 0 0.000227799 0 0 MUC16 94025 broad.mit.edu 37 19 9067484 9067484 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:9067484G>A ENST00000397910.4 - 3 20165 c.19962C>T c.(19960-19962)tcC>tcT p.S6654S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6656 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CATGAGCCAGGGAGAATGTTG 0.502000 22 56 0 0 0.000229342 0 0 CD101 9398 broad.mit.edu 37 1 117552540 117552540 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:117552540C>T ENST00000256652.4 + 2 170 c.112C>T c.(112-114)Cca>Tca p.P38S CD101_ENST00000369470.1_Missense_Mutation_p.P38S NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 38 Ig-like C2-type 1. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGAAGGTTACCCAGTCAGCAT 0.488000 22 41 0 0 0.000295444 0 0 APBB3 10307 broad.mit.edu 37 5 139941690 139941690 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr5:139941690C>T ENST00000357560.4 - 6 1064 c.621G>A c.(619-621)aaG>aaA p.K207K APBB3_ENST00000412920.3_Silent_p.K207K|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000511201.2_Silent_p.K207K|APBB3_ENST00000356738.2_Silent_p.K207K|APBB3_ENST00000358580.5_Silent_p.K207K|APBB3_ENST00000354402.5_Silent_p.K207K NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 207 PID 1. actin cytoskeleton|cytoplasm endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCACCGGCCCTTGGAGCTCC 0.602000 10 15 0 0 0.000673444 0 0 BDP1 55814 broad.mit.edu 37 5 70809023 70809023 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr5:70809023C>T ENST00000358731.4 + 19 4522 c.4259C>T c.(4258-4260)cCt>cTt p.P1420L BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1420 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AAATCTCTTCCTCAAGAACAG 0.428000 14 30 0 0 0.00074312 0 0 GPD1 2819 broad.mit.edu 37 12 50500671 50500671 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:50500671G>A ENST00000301149.3 + 5 815 c.583G>A c.(583-585)Gac>Aac p.D195N GPD1_ENST00000548814.1_Missense_Mutation_p.D172N|GPD1_ENST00000547190.1_3'UTR NM_001257199.1|NM_005276.3 NP_001244128.1|NP_005267.2 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) 195 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) GCAAGAGGTGGACACAGTAGA 0.572000 15 24 0 0 0.000308642 0 0 DIRAS1 148252 broad.mit.edu 37 19 2717367 2717367 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:2717367G>A ENST00000323469.4 - 2 621 c.438C>T c.(436-438)ttC>ttT p.F146F DIRAS1_ENST00000585334.1_Silent_p.F146F NM_145173.3 NP_660156.1 O95057 DIRA1_HUMAN DIRAS family, GTP-binding RAS-like 1 146 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|lung(2)|ovary(2)|prostate(1) 6 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) AGGTCTCCATGAAAGCGCACT 0.622000 14 29 0 0 0.000308642 0 0 DNAH3 55567 broad.mit.edu 37 16 21147682 21147682 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:21147682C>T ENST00000261383.3 - 6 848 c.849G>A c.(847-849)aaG>aaA p.K283K DNAH3_ENST00000415178.1_Silent_p.K283K NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 283 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGTCATTCTCCTTCTCCTGCA 0.507000 26 58 0 0 0.000184323 0 0 BSN 8927 broad.mit.edu 37 3 49692713 49692713 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:49692713C>T ENST00000296452.4 + 5 5838 c.5724C>T c.(5722-5724)ccC>ccT p.P1908P NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1908 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ACAAGCTCCCCTTTGGCAGCA 0.637000 17 20 0 0 0.00074312 0 0 CPEB1 64506 broad.mit.edu 37 15 83221289 83221289 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr15:83221289G>A ENST00000563800.1 - 8 2947 c.1222C>T c.(1222-1224)Cca>Tca p.P408S CPEB1_ENST00000450751.2_Missense_Mutation_p.P306S|CPEB1_ENST00000568128.1_Missense_Mutation_p.P381S|CPEB1_ENST00000562019.1_Missense_Mutation_p.P386S|CPEB1_ENST00000398592.2_Missense_Mutation_p.P155S|RP11-152F13.10_ENST00000562833.1_Silent_p.A115A|CPEB1_ENST00000568757.1_Missense_Mutation_p.P306S|CPEB1_ENST00000564522.1_Missense_Mutation_p.P306S|CPEB1_ENST00000398591.2_Missense_Mutation_p.P311S|CPEB1_ENST00000261723.6_Missense_Mutation_p.P384S|CPEB1_ENST00000423133.2_Missense_Mutation_p.P306S|RP11-379H8.1_ENST00000568285.1_Intron Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 386 Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) AGGCCATCTGGGCTCAGCGGG 0.493000 18 51 0 0 0.000958276 0 0 FRMPD2 143162 broad.mit.edu 37 10 49450341 49450341 + Missense_Mutation SNP G G T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr10:49450341G>T ENST00000374201.3 - 5 732 c.430C>A c.(430-432)Cag>Aag p.Q144K FRMPD2_ENST00000305531.3_Missense_Mutation_p.Q120K|FRMPD2_ENST00000407470.4_Missense_Mutation_p.Q113K NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 144 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CTGTGAGGCTGGTCTTCACAC 0.612000 16 20 1.00905e-13 1.10437e-12 0.000132079 1 0 WNT2B 7482 broad.mit.edu 37 1 113010171 113010171 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:113010171C>T ENST00000369686.4 + 1 116 c.12C>T c.(10-12)ggC>ggT p.G4G WNT2B_ENST00000256640.5_5'UTR NM_004185.3 NP_004176.2 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, member 2B 0 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) tgttggatggccttggagtgg 0.333000 15 24 0 0 0.000566183 0 0 NFRKB 4798 broad.mit.edu 37 11 129753057 129753057 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:129753057G>A ENST00000446488.3 - 8 964 c.861C>T c.(859-861)atC>atT p.I287I NFRKB_ENST00000304521.5_Silent_p.I287I|NFRKB_ENST00000524794.1_Silent_p.I312I|NFRKB_ENST00000524746.1_Silent_p.I287I NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 287 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) ctcgagtcatgatgtcattga 0.502000 25 43 0 0 0.000279167 0 0 YJEFN3 374887 broad.mit.edu 37 19 19640257 19640257 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:19640257G>A ENST00000514277.3 + 2 179 c.144G>A c.(142-144)agG>agA p.R48R CTC-260F20.3_ENST00000555938.1_Intron|YJEFN3_ENST00000436027.4_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR NM_198537.3 NP_940939.2 A6XGL0 YJEN3_HUMAN YjeF N-terminal domain containing 3 48 NS(1)|breast(1)|lung(3) 5 TCCAGAGGAGGAAACAGGCCT 0.587000 10 17 0 0 0.000673444 0 0 PTH1R 5745 broad.mit.edu 37 3 46939630 46939630 + Nonsense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:46939630G>A ENST00000449590.1 + 7 694 c.491G>A c.(490-492)tGg>tAg p.W164* PTH1R_ENST00000430002.2_Nonsense_Mutation_p.W164*|PTH1R_ENST00000418619.1_Nonsense_Mutation_p.W164*|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000313049.5_Nonsense_Mutation_p.W164* NM_000316.2 NP_000307.1 Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 164 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 AACAGGACGTGGGCCAACTAC 0.597000 25 64 0 0 0.000184323 0 0 C1orf86 199990 broad.mit.edu 37 1 2125234 2125234 + Missense_Mutation SNP T T A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:2125234T>A ENST00000378545.3 - 4 622 c.623A>T c.(622-624)cAc>cTc p.H208L C1orf86_ENST00000378546.4_Missense_Mutation_p.H105L|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_5'UTR Q6NZ36 CA086_HUMAN chromosome 1 open reading frame 86 105 central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) TCCTGCCCCGTGAAGCAGCCG 0.697000 7 13 0 0 0.000274275 0 0 PTGDR 5729 broad.mit.edu 37 14 52734848 52734848 + Nonsense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:52734848C>T ENST00000306051.2 + 1 418 c.316C>T c.(316-318)Caa>Taa p.Q106* PTGDR_ENST00000553372.1_Nonsense_Mutation_p.Q106* NM_000953.2 NP_000944.1 Q13258 PD2R_HUMAN prostaglandin D2 receptor (DP) 106 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CTCGTTGTGCCAAGCCTTCGC 0.607000 35 76 0 0 0.000228196 0 0 CD177 57126 broad.mit.edu 37 19 43857897 43857897 + RNA SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:43857897G>A ENST00000378009.4 + 0 73 CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) GGCCCTCCTGGGGTTCATCCT 0.557000 34 56 0 0 0.000191422 0 0 ZNF773 374928 broad.mit.edu 37 19 58016027 58016027 + Missense_Mutation SNP G G A rs139350568 byFrequency TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:58016027G>A ENST00000601674.1 + 3 396 c.163G>A c.(163-165)Ggg>Agg p.G55R ZNF773_ENST00000593916.1_Splice_Site|ZNF773_ENST00000282292.4_Silent_p.Q12Q|ZNF773_ENST00000598770.1_Splice_Site|ZNF773_ENST00000599847.1_Silent_p.Q12Q CATCTTAGCAGGGCTATGTGA 0.522000 37 86 0 0 0.000509022 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733464 56733464 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:56733464G>A ENST00000587340.1 - 7 1666 c.971C>T c.(970-972)tCc>tTc p.S324F ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.S324F|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.S178F|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.S207F|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.S323F Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 324 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TTGTCCCGGGGATTCTCTGTT 0.562000 19 48 0 0 0.000958276 0 0 DHX58 79132 broad.mit.edu 37 17 40261367 40261367 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:40261367G>A ENST00000251642.3 - 6 821 c.599C>T c.(598-600)cCc>cTc p.P200L NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 200 innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GCAGTTCTGGGGTGACATGAT 0.592000 13 28 0 0 0.00010058 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209953943 209953943 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:209953943G>A ENST00000367024.1 + 15 1957 c.1441G>A c.(1441-1443)Gaa>Aaa p.E481K TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E481K|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E461K|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E461K Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 481 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) CCAGGCCAAGGAAAAGGAGGT 0.502000 11 22 0 0 0.00010058 0 0 PIGQ 9091 broad.mit.edu 37 16 630930 630930 + Missense_Mutation SNP T T G TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:630930T>G ENST00000321878.5 + 9 1648 c.1489T>G c.(1489-1491)Tac>Gac p.Y497D PIGQ_ENST00000409527.2_Missense_Mutation_p.Y497D|PIGQ_ENST00000026218.5_Missense_Mutation_p.Y497D NM_004204.3 NP_004195.2 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 497 Leu-rich. C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) CCTGCCGCTGTACTCACTGGG 0.647000 28 72 0 0 0.000491102 0 0 FZD8 8325 broad.mit.edu 37 10 35928632 35928632 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr10:35928632C>T ENST00000374694.1 - 1 1730 c.1726G>A c.(1726-1728)Gac>Aac p.D576N NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 576 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 CGTGCCTGGTCGGGCTGCAGG 0.682000 11 13 0 0 0.00010058 0 0 KRT71 112802 broad.mit.edu 37 12 52940108 52940108 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:52940108G>A ENST00000267119.5 - 7 1356 c.1287C>T c.(1285-1287)atC>atT p.I429I NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 429 Coil 2.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) GATAGGTGGCGATCTCCATGT 0.657000 16 30 0 0 0.00074312 0 0 ZNF486 90649 broad.mit.edu 37 19 20296821 20296821 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:20296821G>A ENST00000335117.8 + 3 240 c.183G>A c.(181-183)ctG>ctA p.L61L CTC-260E6.6_ENST00000585498.1_RNA|ZNF486_ENST00000597083.1_Silent_p.L61L|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 AGCCAGACCTGATCACCTGTC 0.378000 24 48 0 0 0.000878237 0 0 FGF3 2248 broad.mit.edu 37 11 69631106 69631106 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:69631106C>T ENST00000334134.2 - 2 396 c.306G>A c.(304-306)agG>agA p.R102R NM_005247.2 NP_005238.1 P11487 FGF3_HUMAN fibroblast growth factor 3 102 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 13 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) AGAGTCGTCCCCTCTTGTTCA 0.592000 20 42 0 0 0.000295444 0 0 GZF1 64412 broad.mit.edu 37 20 23349486 23349486 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr20:23349486C>T ENST00000338121.5 + 4 1624 c.1547C>T c.(1546-1548)tCc>tTc p.S516F GZF1_ENST00000377051.2_Missense_Mutation_p.S516F|GZF1_ENST00000542987.1_Missense_Mutation_p.S25F|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Missense_Mutation_p.S40F Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 516 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) CATACTGGATCCAAACCCTTT 0.398000 16 31 0 0 0.000308642 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52864001 52864001 + RNA SNP A A G TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr13:52864001A>G ENST00000451298.1 - 0 168 RP11-64P12.8_ENST00000606031.1_RNA GAAAAAATAAAGCAATAGCTA 0.313000 3 19 0 0 0.00024832 0 0 HIST1H2BJ 8970 broad.mit.edu 37 6 27100482 27100482 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:27100482C>T ENST00000607124.1 - 1 47 c.48G>A c.(46-48)aaG>aaA p.K16K HIST1H2BJ_ENST00000541790.1_Silent_p.K16K|HIST1H2BJ_ENST00000339812.2_Silent_p.K16K P06899 H2B1J_HUMAN histone cluster 1, H2bj 16 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1) 10 TCACCGCCTTCTTGGAGCCCT 0.547000 30 70 0 0 0.000227799 0 0 XIRP1 165904 broad.mit.edu 37 3 39229628 39229628 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:39229628C>T ENST00000340369.3 - 2 1537 c.1309G>A c.(1309-1311)Gat>Aat p.D437N XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.D437N NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 437 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GTCTTCACATCCCCCTTTAGC 0.557000 42 102 0 0 0.000437636 0 0 DCHS2 54798 broad.mit.edu 37 4 155219053 155219053 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:155219053G>A ENST00000357232.3 - 18 5047 c.5048C>T c.(5047-5049)tCc>tTc p.S1683F NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1683 Cadherin 14. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GTGGCTGAAGGAAATCTTTAC 0.448000 17 26 0 0 0.000566183 0 0 C1orf173 127254 broad.mit.edu 37 1 75102032 75102032 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:75102032G>A ENST00000326665.5 - 6 753 c.535C>T c.(535-537)Cca>Tca p.P179S NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 179 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GTTACCTTTGGAACAGTTTCT 0.393000 77 137 0 0 0.000781405 0 0 CHIT1 1118 broad.mit.edu 37 1 203188415 203188415 + Nonsense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:203188415G>A ENST00000367229.1 - 9 992 c.958C>T c.(958-960)Cag>Tag p.Q320* CHIT1_ENST00000535569.1_Nonsense_Mutation_p.Q311*|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.Q301*|CHIT1_ENST00000484834.1_5'UTR NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 320 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 GGCACCTTCTGATCCTGGATT 0.597000 36 72 0 0 0.000228196 0 0 HYDIN 54768 broad.mit.edu 37 16 71127815 71127815 + Nonsense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:71127815G>A ENST00000393567.2 - 11 1501 c.1351C>T c.(1351-1353)Cga>Tga p.R451* HYDIN_ENST00000448089.2_Nonsense_Mutation_p.R451*|HYDIN_ENST00000393550.2_Nonsense_Mutation_p.R451*|HYDIN_ENST00000321489.5_Nonsense_Mutation_p.R451*|HYDIN_ENST00000288168.10_Nonsense_Mutation_p.R468*|HYDIN_ENST00000538248.1_Nonsense_Mutation_p.R478*|HYDIN_ENST00000448691.1_Nonsense_Mutation_p.R451*|HYDIN_ENST00000541601.1_Nonsense_Mutation_p.R468* NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 451 R -> P (in dbSNP:rs7200485). p.R451R(4) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CCTTTGATTCGGAGGGGCAGA 0.428000 18 28 0 0 0.000958276 0 0 SIRT7 51547 broad.mit.edu 37 17 79873357 79873357 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:79873357G>A ENST00000328666.6 - 5 501 c.439C>T c.(439-441)Ctc>Ttc p.L147F NM_016538.2 NP_057622.1 Q9NRC8 SIRT7_HUMAN sirtuin 7 147 Deacetylase sirtuin-type. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) ATGTGGGTGAGGGTTGGCTCG 0.647000 4 12 0 0 0.00024832 0 0 PARP16 54956 broad.mit.edu 37 15 65553251 65553251 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr15:65553251G>A ENST00000261888.6 - 5 1250 c.805C>T c.(805-807)Ctg>Ttg p.L269L PARP16_ENST00000444347.2_Silent_p.L154L NM_017851.4 NP_060321.3 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 269 PARP catalytic. integral to membrane NAD+ ADP-ribosyltransferase activity kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 GAATACACCAGGAGGTACTTC 0.488000 35 69 0 0 0.000270559 0 0 FARP2 9855 broad.mit.edu 37 2 242402844 242402844 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:242402844G>A ENST00000264042.3 + 16 1942 c.1772G>A c.(1771-1773)aGa>aAa p.R591K FARP2_ENST00000545004.1_Missense_Mutation_p.R591K|FARP2_ENST00000373287.4_Missense_Mutation_p.R591K NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 591 DH. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GAGTTCCACAGAGGCTTCCTG 0.592000 11 9 0 0 0.000673444 0 0 CSMD3 114788 broad.mit.edu 37 8 113318319 113318319 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:113318319C>T ENST00000297405.5 - 51 8232 c.7988G>A c.(7987-7989)cGa>cAa p.R2663Q CSMD3_ENST00000455883.2_Missense_Mutation_p.R2559Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2623Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2593Q NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2663 Sushi 15. 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 GGATGACAATCGATATCCATC 0.418000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 23 58 0 0 0.000295444 0 0 TTN 7273 broad.mit.edu 37 2 179588354 179588354 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:179588354C>T ENST00000589042.1 - 74 21697 c.21473G>A c.(21472-21474)aGc>aAc p.S7158N TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5914N|TTN_ENST00000591111.1_Missense_Mutation_p.S6841N|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6841 Ig-like 53. 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) TCTAATAACGCTTGTGAAGGT 0.418000 14 21 0 0 0.000151284 0 0 RSPH6A 81492 broad.mit.edu 37 19 46313980 46313980 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:46313980C>T ENST00000221538.3 - 2 911 c.769G>A c.(769-771)Gac>Aac p.D257N RSPH6A_ENST00000600188.1_5'UTR|RSPH6A_ENST00000597055.1_Missense_Mutation_p.D257N NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 257 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 CGCAGCGTGTCCAGCTTGGGG 0.622000 12 36 0 0 0.000219431 0 0 SPTBN4 57731 broad.mit.edu 37 19 41071419 41071419 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:41071419G>A ENST00000352632.3 + 28 6092 c.6006G>A c.(6004-6006)caG>caA p.Q2002Q SPTBN4_ENST00000598249.1_Silent_p.Q2002Q|SPTBN4_ENST00000338932.3_Silent_p.Q2002Q|SPTBN4_ENST00000392025.1_Silent_p.Q745Q Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2002 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCACCTGCCAGGAGCTGGGGC 0.642000 4 11 0 0 0.00024832 0 0 LCE2D 353141 broad.mit.edu 37 1 152636669 152636669 + Missense_Mutation SNP C C T rs150498841 byFrequency TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:152636669C>T ENST00000368784.1 + 2 143 c.88C>T c.(88-90)Ccc>Tcc p.P30S NM_178430.2 NP_848517.1 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 30 Cys-rich. keratinization large_intestine(1)|lung(7)|prostate(2) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TAAGTGTCCCCCCAAATGCCC 0.602000 27 61 0 0 0.000878237 0 0 KIF21B 23046 broad.mit.edu 37 1 200969701 200969701 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:200969701G>A ENST00000332129.2 - 11 1818 c.1502C>T c.(1501-1503)tCc>tTc p.S501F KIF21B_ENST00000461742.2_Missense_Mutation_p.S501F|KIF21B_ENST00000422435.2_Missense_Mutation_p.S501F|KIF21B_ENST00000360529.5_Missense_Mutation_p.S501F NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 501 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GCGGCGCAGGGACTCGTTCAT 0.672000 7 20 0 0 8.12818e-05 0 0 ECEL1 9427 broad.mit.edu 37 2 233347635 233347635 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:233347635C>T ENST00000304546.1 - 10 1821 c.1611G>A c.(1609-1611)aaG>aaA p.K537K ECEL1_ENST00000409941.1_Silent_p.K537K NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 537 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) TCAAGATGTTCTTGAAGTAGG 0.592000 41 85 0 0 0.000509022 0 0 ADAM15 8751 broad.mit.edu 37 1 155028322 155028322 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:155028322C>T ENST00000356955.2 + 7 770 c.669C>T c.(667-669)caC>caT p.H223H ADAM15_ENST00000355956.2_Silent_p.H223H|ADAM15_ENST00000360674.4_Silent_p.H223H|ADAM15_ENST00000271836.6_Silent_p.H223H|ADAM15_ENST00000531455.1_Silent_p.H233H|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Silent_p.H223H|ADAM15_ENST00000368412.3_Silent_p.H223H|ADAM15_ENST00000359280.4_Silent_p.H223H|ADAM15_ENST00000447332.3_Silent_p.H207H|ADAM15_ENST00000368410.2_Intron NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 223 Peptidase M12B. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TGGCTGATCACTCGGAGGTGA 0.572000 25 47 0 0 0.000586117 0 0 LSMEM1 286006 broad.mit.edu 37 7 112129972 112129972 + Nonsense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr7:112129972C>T ENST00000312849.4 + 4 725 c.364C>T c.(364-366)Caa>Taa p.Q122* LSMEM1_ENST00000486022.1_3'UTR|LSMEM1_ENST00000439068.2_Nonsense_Mutation_p.Q122* NM_182597.2 NP_872403.1 leucine-rich single-pass membrane protein 1 GCGACTCAACCAACTCAACCA 0.393000 21 63 0 0 0.000295444 0 0 BSN 8927 broad.mit.edu 37 3 49692712 49692712 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:49692712C>T ENST00000296452.4 + 5 5837 c.5723C>T c.(5722-5724)cCc>cTc p.P1908L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1908 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TACAAGCTCCCCTTTGGCAGC 0.642000 17 20 0 0 0.00074312 0 0 GALNT16 57452 broad.mit.edu 37 14 69795286 69795286 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:69795286G>A ENST00000337827.4 + 6 1015 c.688G>A c.(688-690)Gag>Aag p.E230K GALNT16_ENST00000448469.3_Missense_Mutation_p.E230K|GALNT16_ENST00000553669.1_Missense_Mutation_p.E230K NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GCGGGTGAAGGAGGTGAGCCA 0.632000 20 41 0 0 0.000229342 0 0 RANBP6 26953 broad.mit.edu 37 9 6013112 6013112 + Silent SNP A A G TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr9:6013112A>G ENST00000259569.5 - 1 2506 c.2496T>C c.(2494-2496)gtT>gtC p.V832V NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 832 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) GAGACATCTCAACCTGTTGAT 0.343000 46 35 0 0 0.000589545 0 0 ASXL3 80816 broad.mit.edu 37 18 31318725 31318725 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr18:31318725G>A ENST00000269197.5 + 11 1357 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 453 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AATTCAGGAGGAAATTGCAGA 0.393000 22 55 0 0 0.00047179 0 0 MTUS2 23281 broad.mit.edu 37 13 29599744 29599744 + Missense_Mutation SNP G G T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr13:29599744G>T ENST00000431530.3 + 1 997 c.939G>T c.(937-939)caG>caT p.Q313H NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 303 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AATTAGGTCAGGGAAAGGGAG 0.517000 16 26 1.5739e-10 1.71845e-09 0.000422831 1 0 MEI1 150365 broad.mit.edu 37 22 42172262 42172262 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr22:42172262C>T ENST00000401548.3 + 21 2741 c.2701C>T c.(2701-2703)Cca>Tca p.P901S MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.P269S|MEI1_ENST00000540880.1_Missense_Mutation_p.P219S NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 901 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TGGGGCATCCCCATCAGGAGG 0.567000 9 19 0 0 0.000274275 0 0 FAT4 79633 broad.mit.edu 37 4 126371771 126371771 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:126371771C>T ENST00000394329.3 + 9 9613 c.9600C>T c.(9598-9600)ttC>ttT p.F3200F FAT4_ENST00000335110.5_Silent_p.F1498F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3200 Cadherin 31. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATGACTATTTCCCTACTGTTT 0.418000 14 47 0 0 0.000219431 0 0 SERPINF1 5176 broad.mit.edu 37 17 1679855 1679855 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:1679855G>A ENST00000254722.4 + 7 979 c.816G>A c.(814-816)atG>atA p.M272I NM_002615.5 NP_002606.3 P36955 PEDF_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 272 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 CCGGAAGCATGAGTATCATCT 0.517000 42 70 0 0 0.000781405 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 60 0 0 0.00024832 0 0 PRSS58 136541 broad.mit.edu 37 7 141952365 141952365 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr7:141952365G>A ENST00000552471.1 - 4 822 c.503C>T c.(502-504)gCc>gTc p.A168V PRSS58_ENST00000547058.2_Missense_Mutation_p.A168V Q8IYP2 PRS58_HUMAN protease, serine, 58 168 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 GGTTTTATAGGCATCGCGACA 0.423000 29 49 0 0 0.000409698 0 0 HECTD4 283450 broad.mit.edu 37 12 112632753 112632753 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:112632753G>A ENST00000550722.1 - 56 8642 c.8247C>T c.(8245-8247)atC>atT p.I2749I HECTD4_ENST00000377560.5_Silent_p.I2723I|HECTD4_ENST00000430131.2_Silent_p.I2473I NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TAATGTCCCGGATGGCAGGGA 0.577000 5 7 0 0 3.59834e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9038404 9038404 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:9038404G>A ENST00000397910.4 - 7 36318 c.36115C>T c.(36115-36117)Cgg>Tgg p.R12039W NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12041 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.R12039W(1)|p.R7672W(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCCAGTACCGACGGTTATAA 0.488000 28 46 0 0 0.000339439 0 0 OR2C1 4993 broad.mit.edu 37 16 3406106 3406106 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:3406106C>T ENST00000304936.2 + 1 218 c.166C>T c.(166-168)Cat>Tat p.H56Y NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 56 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 GGCCCGGCTCCATACACCCAT 0.502000 38 79 0 0 0.000437636 0 0 GALNT13 114805 broad.mit.edu 37 2 154801150 154801150 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:154801150G>A ENST00000392825.3 + 3 707 c.140G>A c.(139-141)aGg>aAg p.R47K GALNT13_ENST00000409237.1_Missense_Mutation_p.R47K NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 47 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 CCTGCATTGAGGGGTAAGTGC 0.403000 26 53 0 0 0.000279167 0 0 SGK1 6446 broad.mit.edu 37 6 134491988 134491988 + Silent SNP A A G TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:134491988A>G ENST00000367858.5 - 13 1986 c.1389T>C c.(1387-1389)atT>atC p.I463I SGK1_ENST00000413996.3_Silent_p.I382I|SGK1_ENST00000237305.7_Silent_p.I368I|SGK1_ENST00000367857.5_Silent_p.I358I|SGK1_ENST00000475719.2_Silent_p.I324I|SGK1_ENST00000528577.1_Silent_p.I396I NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 368 apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) AAGGGGGAGTAATCTTCTTAT 0.373000 43 98 0 0 0.000781405 0 0 MYBPC2 4606 broad.mit.edu 37 19 50957534 50957534 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:50957534C>T ENST00000357701.5 + 18 1973 c.1922C>T c.(1921-1923)cCc>cTc p.P641L NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 641 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GTCCCAGACCCCCCGGAGGCT 0.647000 8 7 0 0 0.000274275 0 0 NDNF 79625 broad.mit.edu 37 4 121958511 121958511 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:121958511C>T ENST00000379692.4 - 4 1141 c.615G>A c.(613-615)ctG>ctA p.L205L NDNF_ENST00000506900.1_5'UTR NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 205 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 TGGGTTGTTTCAGCAAAGAGG 0.483000 29 79 0 0 0.000227799 0 0 MUC3A 4584 broad.mit.edu 37 7 100549494 100549494 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr7:100549494G>A ENST00000379458.4 + 2 75 c.75G>A c.(73-75)acG>acA p.25_25insT MUC3A_ENST00000483366.1_3'UTR mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CTTTATCCACGGCCACATCCA 0.532000 26 72 0 0 0.000147802 0 0 SCN8A 6334 broad.mit.edu 37 12 52184212 52184212 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:52184212G>A ENST00000354534.5 + 25 4628 c.4450G>A c.(4450-4452)Gaa>Aaa p.E1484K SCN8A_ENST00000545061.1_Missense_Mutation_p.E1443K NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1484 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CATGACCGAAGAACAGAAGAA 0.478000 10 17 0 0 0.000673444 0 0 LSR 51599 broad.mit.edu 37 19 35753456 35753456 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:35753456C>T ENST00000602122.1 + 4 1213 c.726C>T c.(724-726)ctC>ctT p.L242L LSR_ENST00000597933.1_3'UTR|LSR_ENST00000361790.3_Silent_p.L261L|LSR_ENST00000427250.1_Intron|LSR_ENST00000360798.3_Intron|LSR_ENST00000354900.3_Silent_p.L242L|LSR_ENST00000347609.4_Silent_p.L224L Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 261 embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CAGACTGGCTCTTCGTGGTTG 0.622000 26 66 0 0 0.000227799 0 0 NLRP12 91662 broad.mit.edu 37 19 54314291 54314291 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:54314291C>T ENST00000324134.6 - 3 790 c.622G>A c.(622-624)Gag>Aag p.E208K NLRP12_ENST00000535162.1_Missense_Mutation_p.E208K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E208K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E208K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E208K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E208K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E208K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E208K NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 208 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CGCGGTGGCTCGGGGCGCTCC 0.647000 21 45 0 0 0.000720815 0 0 CDH5 1003 broad.mit.edu 37 16 66436844 66436844 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:66436844C>T ENST00000341529.3 + 12 2275 c.2127C>T c.(2125-2127)atC>atT p.I709I CDH5_ENST00000539168.1_Silent_p.I148I NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 709 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CAGCCATGATCGAGGTGAAGA 0.697000 9 12 0 0 0.000673444 0 0 KIAA0947 23379 broad.mit.edu 37 5 5462266 5462266 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr5:5462266C>T ENST00000296564.7 + 13 3041 c.2819C>T c.(2818-2820)cCa>cTa p.P940L NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 940 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 TTTAATTCTCCAGGTGGTTCT 0.383000 10 27 0 0 6.40141e-05 0 0 SPINK9 643394 broad.mit.edu 37 5 147719230 147719230 + Splice_Site SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr5:147719230G>A ENST00000511717.2 + 5 549 c.278_splice c.e5-1 p.K93_splice RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000377906.1_Splice_Site_p.K72_splice Q5DT21 ISK9_HUMAN serine peptidase inhibitor, Kazal type 9 72 extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|urinary_tract(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCCACAGGAAAACTGACG 0.333000 21 22 0 0 0.000586117 0 0 DLGAP2 9228 broad.mit.edu 37 8 1581004 1581004 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:1581004G>A ENST00000421627.2 + 5 1496 c.1362G>A c.(1360-1362)gcG>gcA p.A454A NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 533 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding p.A476A(1) breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TGAGCGAGGCGGAGATCAATG 0.572000 6 7 0 0 0.000274275 0 0 STAT3 6774 broad.mit.edu 37 17 40498618 40498618 + Missense_Mutation SNP T T A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:40498618T>A ENST00000264657.5 - 3 554 c.242A>T c.(241-243)cAc>cTc p.H81L STAT3_ENST00000588969.1_Missense_Mutation_p.H81L|STAT3_ENST00000585517.1_Missense_Mutation_p.H81L|STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000404395.3_Missense_Mutation_p.H81L NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 81 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TCGTAGATTGTGCTGATAGAG 0.458000 Hyperimmunoglobulin E Recurrent Infection Syndrome 69 144 0 0 0.000781405 0 0 GSDMC 56169 broad.mit.edu 37 8 130789704 130789704 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:130789704C>T ENST00000276708.4 - 2 1011 c.130G>A c.(130-132)Gat>Aat p.D44N NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 44 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 GAACGAGAATCCTTCTTCTTT 0.398000 23 45 0 0 0.00047179 0 0 EMILIN1 11117 broad.mit.edu 37 2 27305949 27305949 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:27305949G>A ENST00000380320.4 + 4 2009 c.1510G>A c.(1510-1512)Gtg>Atg p.V504M NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 504 cell adhesion collagen breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGCGCAGGGTGCTGGACAG 0.692000 6 6 0 0 3.59834e-05 0 0 TEP1 7011 broad.mit.edu 37 14 20876287 20876287 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:20876287G>A ENST00000262715.5 - 2 352 c.312C>T c.(310-312)atC>atT p.I104I TEP1_ENST00000556935.1_Silent_p.I104I NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 104 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CCAAGGAGAGGATGTCTGGGT 0.542000 32 59 0 0 0.000491102 0 0 MYO5B 4645 broad.mit.edu 37 18 47373529 47373529 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr18:47373529C>T ENST00000285039.7 - 33 4745 c.4446G>A c.(4444-4446)cgG>cgA p.R1482R MYO5B_ENST00000592688.1_Silent_p.R52R|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.R597R NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1482 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCACCAGGTTCCGGATGAGGA 0.622000 8 32 0 0 0.000157383 0 0 ABCG5 64240 broad.mit.edu 37 2 44065037 44065037 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:44065037C>T ENST00000260645.1 - 2 340 c.201G>A c.(199-201)caG>caA p.Q67Q ABCG5_ENST00000405322.1_5'UTR|ABCG5_ENST00000543989.1_5'UTR NM_022436.2 NP_071881.1 Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 67 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTTTGAGGATCTGCCTGGTCC 0.552000 81 206 0 0 0.000781405 0 0 ATF4P4 100127952 broad.mit.edu 37 11 113660356 113660356 + RNA SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:113660356G>A ENST00000393544.2 + 0 404 ACCTGGCAGAGGTGAAGGACT 0.562000 3 6 0 0 6.4e-05 0 0 FCGBP 8857 broad.mit.edu 37 19 40430374 40430374 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:40430374G>A ENST00000221347.6 - 3 1576 c.1569C>T c.(1567-1569)cgC>cgT p.R523R NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 523 VWFD 1. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGGAGACGCGGCGGCTGCCCC 0.662000 8 8 0 0 0.000274275 0 0 PPIL6 285755 broad.mit.edu 37 6 109748118 109748118 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:109748118C>T ENST00000521072.2 - 5 1143 c.563G>A c.(562-564)gGc>gAc p.G188D PPIL6_ENST00000440797.2_Missense_Mutation_p.G188D|PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000424445.2_Missense_Mutation_p.G156D NM_173672.4 NP_775943.1 Q8IXY8 PPIL6_HUMAN peptidylprolyl isomerase (cyclophilin)-like 6 188 PPIase cyclophilin-type. protein folding peptidyl-prolyl cis-trans isomerase activity large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259) TAGTCTTATGCCACGTTGAGA 0.353000 5 117 0 0 0.000602214 0 0 RECQL4 9401 broad.mit.edu 37 8 145740345 145740345 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:145740345G>A ENST00000428558.2 - 9 1636 c.1595C>T c.(1594-1596)cCc>cTc p.P532L RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 532 Helicase ATP-binding. DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGACAGCAGGGGAGAGACGAC 0.632000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 7 11 0 0 0.000274275 0 0 DCLK2 166614 broad.mit.edu 37 4 151023695 151023695 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:151023695C>T ENST00000296550.7 + 2 1241 c.487C>T c.(487-489)Cca>Tca p.P163S DCLK2_ENST00000506325.1_Missense_Mutation_p.P163S|DCLK2_ENST00000302176.8_Missense_Mutation_p.P163S NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 163 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) AAATATTAATCCAAACTGGTC 0.388000 14 27 0 0 0.000308642 0 0 EXD1 161829 broad.mit.edu 37 15 41482292 41482292 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr15:41482292G>A ENST00000314992.5 - 9 915 c.725C>T c.(724-726)tCa>tTa p.S242L EXD1_ENST00000458580.2_Missense_Mutation_p.S300L NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 242 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 TAAAGAGGGTGAAACAGGTCG 0.428000 35 73 0 0 0.000953801 0 0 GCNT1 2650 broad.mit.edu 37 9 79117777 79117777 + Missense_Mutation SNP T T A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr9:79117777T>A ENST00000442371.1 + 3 1419 c.480T>A c.(478-480)gaT>gaA p.D160E GCNT1_ENST00000536223.1_Missense_Mutation_p.D160E|GCNT1_ENST00000376730.4_Missense_Mutation_p.D160E|GCNT1_ENST00000444201.2_Missense_Mutation_p.D160E NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 160 Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 AATCCGAGGATTCCTATTTAG 0.463000 23 47 0 0 0.000878237 0 0 DNAH5 1767 broad.mit.edu 37 5 13864514 13864514 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr5:13864514C>T ENST00000265104.4 - 28 4692 c.4588G>A c.(4588-4590)Gaa>Aaa p.E1530K CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1530 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACCTCTATTTCCTCTTTATAT 0.383000 Kartagener syndrome 18 53 0 0 0.00074312 0 0 C7orf10 79783 broad.mit.edu 37 7 40234577 40234577 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr7:40234577C>T ENST00000309930.5 + 6 447 c.423C>T c.(421-423)gtC>gtT p.V141V C7orf10_ENST00000335693.4_Silent_p.V141V|C7orf10_ENST00000540834.1_Silent_p.V134V|C7orf10_ENST00000401647.2_Silent_p.V141V NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 141 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 AAAACTATGTCCCTGGCAAAC 0.443000 34 71 0 0 0.00058488 0 0 FLNB 2317 broad.mit.edu 37 3 58064461 58064461 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:58064461G>A ENST00000357272.4 + 3 724 c.559G>A c.(559-561)Gaa>Aaa p.E187K FLNB_ENST00000419752.2_Missense_Mutation_p.E18K|FLNB_ENST00000295956.4_Missense_Mutation_p.E187K|FLNB_ENST00000358537.3_Missense_Mutation_p.E187K|FLNB_ENST00000429972.2_Missense_Mutation_p.E187K|FLNB_ENST00000348383.5_Missense_Mutation_p.E187K|FLNB_ENST00000493452.1_Missense_Mutation_p.E18K|FLNB_ENST00000490882.1_Missense_Mutation_p.E187K O75369 FLNB_HUMAN filamin B, beta 187 Actin-binding.|CH 2. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCCAGACTGGGAATCCTGGGA 0.498000 11 9 0 0 0.000219431 0 0 ENPP4 22875 broad.mit.edu 37 6 46107385 46107385 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:46107385C>T ENST00000321037.4 + 2 295 c.65C>T c.(64-66)tCt>tTt p.S22F NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 22 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 GACTCTTCCTCTAGTTTGCCA 0.353000 42 62 0 0 0.000781405 0 0 SLC9C2 284525 broad.mit.edu 37 1 173494043 173494043 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:173494043C>T ENST00000367714.3 - 20 2811 c.2389G>A c.(2389-2391)Gat>Aat p.D797N SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 797 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ATGACAACATCACGACCCTCA 0.348000 20 42 0 0 0.000175454 0 0 FRMD1 79981 broad.mit.edu 37 6 168475997 168475997 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:168475997C>T ENST00000283309.6 - 2 296 c.232G>A c.(232-234)Gag>Aag p.E78K FRMD1_ENST00000440994.2_Missense_Mutation_p.E10K NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 78 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) TGGAAAAGCTCGCGGCCAGTA 0.627000 14 35 0 0 0.000422831 0 0 PPP5C 5536 broad.mit.edu 37 19 46891949 46891949 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:46891949G>A ENST00000012443.4 + 11 1419 c.1316G>A c.(1315-1317)gGa>gAa p.G439E PPP5C_ENST00000391919.1_Missense_Mutation_p.G311E NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 439 Catalytic. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) GTGGCTCACGGAGGCCGCTGT 0.562000 20 52 0 0 0.000720815 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73459951 73459951 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:73459951G>A ENST00000556143.1 - 4 1823 c.1103C>T c.(1102-1104)cCc>cTc p.P368L ZFYVE1_ENST00000318876.5_Missense_Mutation_p.P368L|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.P368L NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 368 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) AAAGTCCGTGGGAGGGTTGTA 0.562000 15 40 0 0 0.000422831 0 0 RIPPLY3 53820 broad.mit.edu 37 21 38390367 38390367 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr21:38390367G>A ENST00000329553.2 + 4 643 c.433G>A c.(433-435)Gaa>Aaa p.E145K RIPPLY3_ENST00000485272.1_3'UTR NM_018962.2 NP_061835.1 ripply transcriptional repressor 3 AGGTCGGCAGGAAAATGGCCC 0.632000 5 17 0 0 0.000602214 0 0 ARRDC4 91947 broad.mit.edu 37 15 98514363 98514363 + Silent SNP T T G TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr15:98514363T>G ENST00000268042.6 + 8 1367 c.1203T>G c.(1201-1203)gtT>gtG p.V401V ARRDC4_ENST00000538249.1_Silent_p.V314V NM_183376.2 NP_899232.2 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 401 signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3) 16 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) TTTTGCAGGTTGACCCACATC 0.383000 48 107 0 0 0.000781405 0 0 ALPK1 80216 broad.mit.edu 37 4 113353727 113353727 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:113353727C>T ENST00000458497.1 + 11 3303 c.3024C>T c.(3022-3024)caC>caT p.H1008H ALPK1_ENST00000177648.9_Silent_p.H1008H|ALPK1_ENST00000504176.2_Silent_p.H930H NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1008 H -> P (in dbSNP:rs34079946). ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GTCAACTCCACCGAGCACATA 0.468000 20 77 0 0 0.000175454 0 0 VEGFC 7424 broad.mit.edu 37 4 177609039 177609039 + Nonsense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:177609039C>T ENST00000280193.2 - 5 1162 c.747G>A c.(745-747)tgG>tgA p.W249* RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 249 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TGTGATTATTCCACATGTAAT 0.463000 21 51 0 0 0.000229342 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119694 38119694 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr22:38119694C>T ENST00000406386.3 + 7 1386 c.1131C>T c.(1129-1131)aaC>aaT p.N377N RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 377 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AGCGGGAAAACCCCAGGACAC 0.562000 23 58 0 0 0.00047179 0 0 SCN9A 6335 broad.mit.edu 37 2 167168009 167168009 + Splice_Site SNP C C A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:167168009C>A ENST00000375387.4 - 2 598 c.258_splice c.e2+1 p.K86_splice SCN9A_ENST00000409672.1_Splice_Site_p.K86_splice|SCN9A_ENST00000409435.1_Splice_Site_p.K86_splice|SCN9A_ENST00000303354.6_Splice_Site_p.K86_splice Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 86 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) ATAAACTCACCTTTTTGTCTG 0.423000 16 31 1.67942e-08 1.82057e-07 0.00074312 1 0 FREM2 341640 broad.mit.edu 37 13 39453036 39453036 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr13:39453036G>A ENST00000280481.7 + 23 9144 c.8928G>A c.(8926-8928)gtG>gtA p.V2976V NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2976 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AACTAGCAGTGGATGACCCTG 0.438000 17 65 0 0 0.000566183 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 6 19 0 0 0.000157383 0 0 DLGAP4 22839 broad.mit.edu 37 20 35075130 35075130 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr20:35075130G>A ENST00000373913.3 + 7 1918 c.1438G>A c.(1438-1440)Gag>Aag p.E480K DLGAP4_ENST00000373907.2_Missense_Mutation_p.E480K|DLGAP4_ENST00000339266.5_Missense_Mutation_p.E480K|DLGAP4_ENST00000401952.2_Missense_Mutation_p.E480K Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 480 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) TGACCAGTATGAGGCGGCCTG 0.632000 6 9 0 0 3.59834e-05 0 0 SNTB1 6641 broad.mit.edu 37 8 121644849 121644849 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:121644849G>A ENST00000395601.3 - 4 1245 c.831C>T c.(829-831)atC>atT p.I277I SNTB1_ENST00000517992.1_Silent_p.I277I|SNTB1_ENST00000519177.1_5'UTR NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 277 PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) TGCTCCTTAGGATCACCGTGT 0.537000 18 43 0 0 0.000295444 0 0 COL5A3 50509 broad.mit.edu 37 19 10071164 10071164 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:10071164C>T ENST00000264828.3 - 67 5246 c.5161G>A c.(5161-5163)Gat>Aat p.D1721N NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1721 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GCCGCCACATCCCACAGGGGC 0.577000 13 47 0 0 0.000219431 0 0 LBP 3929 broad.mit.edu 37 20 36999934 36999934 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr20:36999934G>A ENST00000217407.2 + 12 1389 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 410 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) GGTAAAAGTGGAACTGAAAGA 0.383000 12 32 0 0 0.000219431 0 0 FAM47A 158724 broad.mit.edu 37 X 34149264 34149264 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chrX:34149264C>T ENST00000346193.3 - 1 1183 c.1132G>A c.(1132-1134)Gag>Aag p.E378K NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 378 p.E378*(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TTGGAAGGCTCCGCGTGGAGA 0.637000 17 14 0 0 0.000132079 0 0 BRINP1 1620 broad.mit.edu 37 9 121929380 121929380 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr9:121929380C>T ENST00000265922.3 - 8 2729 c.2268G>A c.(2266-2268)atG>atA p.M756I DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 756 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GTTTGGCTGTCATCTGGTCCG 0.478000 44 85 0 0 0.000781405 0 0 TICRR 90381 broad.mit.edu 37 15 90135386 90135386 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr15:90135386C>T ENST00000268138.7 + 5 1625 c.1520C>T c.(1519-1521)tCc>tTc p.S507F TICRR_ENST00000560985.1_Missense_Mutation_p.S506F TOPBP1-interacting checkpoint and replication regulator GGTGCCAGTTCCGATTTGATG 0.423000 17 40 0 0 0.000375601 0 0 ATG4D 84971 broad.mit.edu 37 19 10655730 10655730 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:10655730C>T ENST00000309469.4 + 3 590 c.417C>T c.(415-417)gaC>gaT p.D139D ATG4D_ENST00000540862.1_5'UTR NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 139 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TGACCTCGGACTGTGGCTGGG 0.637000 24 71 0 0 0.00047179 0 0 METTL2A 339175 broad.mit.edu 37 17 60501662 60501662 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:60501662G>A ENST00000311506.5 + 2 229 c.193G>A c.(193-195)Gag>Aag p.E65K NM_181725.3 NP_859076.3 Q96IZ6 MTL2A_HUMAN methyltransferase like 2A 65 methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2) 6 BRCA - Breast invasive adenocarcinoma(2;1.08e-10) GGTGTGCCAGGAGAAACAAGG 0.602000 OREG0024635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 24 0 0 0.000274275 0 0 POLN 353497 broad.mit.edu 37 4 2083370 2083370 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:2083370G>A ENST00000511885.2 - 22 2651 c.2298C>T c.(2296-2298)ttC>ttT p.F766F POLN_ENST00000382865.1_Silent_p.F766F Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 766 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CTTGCACCACGAAGTTCACTG 0.567000 DNA polymerases (catalytic subunits) 5 17 0 0 0.000602214 0 0 PPP5C 5536 broad.mit.edu 37 19 46891948 46891948 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:46891948G>A ENST00000012443.4 + 11 1418 c.1315G>A c.(1315-1317)Gga>Aga p.G439R PPP5C_ENST00000391919.1_Missense_Mutation_p.G311R NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 439 Catalytic. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) GGTGGCTCACGGAGGCCGCTG 0.567000 20 53 0 0 0.000720815 0 0 ARRDC4 91947 broad.mit.edu 37 15 98514362 98514362 + Splice_Site SNP T T G TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr15:98514362T>G ENST00000268042.6 + 8 1366 c.1200_splice c.e8-1 p.V401_splice ARRDC4_ENST00000538249.1_Splice_Site_p.V314_splice NM_183376.2 NP_899232.2 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 401 signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3) 16 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) TTTTTGCAGGTTGACCCACAT 0.383000 49 106 0 0 0.000781405 0 0 ZNF569 148266 broad.mit.edu 37 19 37903510 37903510 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:37903510G>A ENST00000316950.6 - 6 2607 c.2050C>T c.(2050-2052)Cat>Tat p.H684Y ZNF569_ENST00000392149.2_Missense_Mutation_p.H684Y|ZNF569_ENST00000392150.2_Missense_Mutation_p.H525Y NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 684 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAATGAGTATGAATTCTCTGG 0.403000 15 52 0 0 0.000566183 0 0 CEP72 55722 broad.mit.edu 37 5 647960 647960 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr5:647960G>A ENST00000264935.5 + 11 1797 c.1707G>A c.(1705-1707)gtG>gtA p.V569V CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 569 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) GCGAGATTGTGGAACTGAAGC 0.478000 23 32 0 0 0.000147802 0 0 NTRK1 4914 broad.mit.edu 37 1 156837972 156837972 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:156837972G>A ENST00000368196.3 + 5 625 c.505G>A c.(505-507)Gga>Aga p.G169R NTRK1_ENST00000358660.3_Missense_Mutation_p.G169R|NTRK1_ENST00000524377.1_Missense_Mutation_p.G169R|NTRK1_ENST00000392302.2_Missense_Mutation_p.G139R NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 169 LRRCT. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GGGACTGGGCGGAGTGCCTGA 0.657000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 18 33 0 0 0.00074312 0 0 HDAC4 9759 broad.mit.edu 37 2 240055964 240055964 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:240055964G>A ENST00000345617.3 - 11 2062 c.1271C>T c.(1270-1272)cCg>cTg p.P424L HDAC4_ENST00000541256.1_Missense_Mutation_p.P393L|HDAC4_ENST00000543185.1_Missense_Mutation_p.P8L NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 424 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TGCTTGTGCCGGCGGCTGCTC 0.672000 5 13 0 0 8.12818e-05 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88272447 88272447 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr9:88272447C>T ENST00000357081.3 - 10 956 c.812G>A c.(811-813)gGa>gAa p.G271E AGTPBP1_ENST00000432218.1_Missense_Mutation_p.G109E|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376081.4_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.G271E|AGTPBP1_ENST00000376080.1_3'UTR|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.G323E Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 271 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 CTGTAAAATTCCTTTCCGAAT 0.373000 11 27 0 0 0.000673444 0 0 PRPS1 5631 broad.mit.edu 37 X 106884133 106884133 + Splice_Site SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chrX:106884133G>A ENST00000372435.4 + 3 430 c.306_splice c.e3-1 p.S103_splice PRPS1_ENST00000372428.4_Splice_Site_p.S36_splice|PRPS1_ENST00000543248.1_Splice_Site_p.S103_splice|PRPS1_ENST00000372419.3_Splice_Site_p.S103_splice|PRPS1_ENST00000372418.1_Intron NM_002764.3 NP_002755.1 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 103 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 23 TCCATTTAGAGCCGGGCGCCA 0.378000 54 32 0 0 0.000781405 0 0 TM2D2 83877 broad.mit.edu 37 8 38852865 38852865 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:38852865G>A ENST00000412303.1 - 2 552 c.158C>T c.(157-159)tCc>tTc p.S53F TM2D2_ENST00000397070.2_Missense_Mutation_p.S53F|TM2D2_ENST00000456845.2_Missense_Mutation_p.S53F|TM2D2_ENST00000456397.2_Missense_Mutation_p.S96F|TM2D2_ENST00000522434.1_5'UTR NM_001024380.1|NM_001024381.1|NM_031940.3 NP_001019551.1|NP_001019552.1|NP_114146.3 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 96 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) AAGTTCCTGGGATGCAGTTGC 0.388000 18 57 0 0 0.00047179 0 0 NFIB 4781 broad.mit.edu 37 9 14307337 14307337 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr9:14307337C>T ENST00000380959.3 - 2 686 c.213G>A c.(211-213)aaG>aaA p.K71K NFIB_ENST00000397581.2_Silent_p.K71K|NFIB_ENST00000380953.1_Silent_p.K71K|NFIB_ENST00000397579.2_Silent_p.K71K|NFIB_ENST00000397575.3_Silent_p.K71K|NFIB_ENST00000380934.4_Silent_p.K97K|NFIB_ENST00000380921.3_Silent_p.K71K NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 71 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) TGGATGCCCACTTCTGTTTGA 0.473000 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 20 20 0 0 0.000229342 0 0 MOSPD3 64598 broad.mit.edu 37 7 100212522 100212522 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr7:100212522C>T ENST00000393950.2 + 4 826 c.544C>T c.(544-546)Ctc>Ttc p.L182F MOSPD3_ENST00000379527.2_Missense_Mutation_p.L182F|MOSPD3_ENST00000223054.4_Missense_Mutation_p.L182F|MOSPD3_ENST00000424091.2_Missense_Mutation_p.L172F NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 182 integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CAGCTCCTTCCTCCTCTTCTT 0.627000 22 42 0 0 0.000375601 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431076 37431076 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr10:37431076C>T ENST00000374660.1 + 7 1182 c.1083C>T c.(1081-1083)atC>atT p.I361I ANKRD30A_ENST00000361713.1_Silent_p.I361I|ANKRD30A_ENST00000602533.1_Silent_p.I361I Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 417 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CTAGGAAGATCGCATGGGAGA 0.393000 19 25 0 0 0.000132079 0 0 OR52D1 390066 broad.mit.edu 37 11 5510609 5510609 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:5510609C>T ENST00000322641.5 + 1 695 c.673C>T c.(673-675)Ctc>Ttc p.L225F AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGCTTTATCCTCCATGCAGT 0.488000 35 95 0 0 0.000692331 0 0 ADCY10 55811 broad.mit.edu 37 1 167791356 167791356 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:167791356C>T ENST00000367848.1 - 30 4413 c.3916G>A c.(3916-3918)Gaa>Aaa p.E1306K ADCY10_ENST00000367851.4_Missense_Mutation_p.E1398K|ADCY10_ENST00000545172.1_Missense_Mutation_p.E1245K|ADCY10_ENST00000485964.1_5'UTR Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1398 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TCCAAACATTCTTCAAATGTT 0.403000 18 28 0 0 0.000132079 0 0 ZNF415 55786 broad.mit.edu 37 19 53612853 53612853 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:53612853C>T ENST00000455735.2 - 7 909 c.589G>A c.(589-591)Gaa>Aaa p.E197K ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.E149K|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.E161K|ZNF415_ENST00000243643.4_Missense_Mutation_p.E149K|ZNF415_ENST00000448501.1_Missense_Mutation_p.E197K|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.E136K Q09FC8 ZN415_HUMAN zinc finger protein 415 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) TGCTGCAGTTCATGGGGATGT 0.398000 23 50 0 0 0.000375601 0 0 METAP2 10988 broad.mit.edu 37 12 95879696 95879696 + Missense_Mutation SNP C C A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:95879696C>A ENST00000323666.5 + 4 596 c.367C>A c.(367-369)Ctg>Atg p.L123M METAP2_ENST00000550777.1_Missense_Mutation_p.L87M|METAP2_ENST00000261220.9_Missense_Mutation_p.L100M|METAP2_ENST00000551840.1_Missense_Mutation_p.L122M|METAP2_ENST00000546753.1_Intron NM_006838.3 NP_006829.1 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 123 N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|large_intestine(2)|lung(7)|prostate(1) 13 L-Methionine(DB00134) AATATGTGACCTGTATCCTAA 0.363000 8 170 0.000274275 0.0029314 0.000274275 1 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342254 60342254 + RNA SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:60342254C>T ENST00000581291.1 - 0 1899 breast(2)|kidney(1)|lung(2) 5 GAATGTCTCTCGAGCTGCACT 0.483000 21 31 0 0 0.000132079 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013557 149013557 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chrX:149013557G>A ENST00000535454.1 + 4 1060 c.511G>A c.(511-513)Gaa>Aaa p.E171K MAGEA8_ENST00000542674.1_Missense_Mutation_p.E171K|MAGEA8_ENST00000286482.1_Missense_Mutation_p.E171K NM_001166400.1 NP_001159872.1 P43361 MAGA8_HUMAN melanoma antigen family A, 8 171 MAGE. p.E171K(1) NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) TGATGTGAAGGAAGTGGACCC 0.512000 27 22 0 0 0.000586117 0 0 KIAA0232 9778 broad.mit.edu 37 4 6882551 6882551 + Missense_Mutation SNP G G C TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:6882551G>C ENST00000307659.5 + 10 4501 c.4046G>C c.(4045-4047)aGa>aCa p.R1349T KIAA0232_ENST00000425103.1_Missense_Mutation_p.R1349T NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 1349 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 ACAGGAGAGAGAGATTCTGGA 0.473000 7 28 0 0 0.000442599 0 0 GPR98 84059 broad.mit.edu 37 5 90050855 90050855 + Silent SNP T T C TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr5:90050855T>C ENST00000405460.2 + 55 11529 c.11433T>C c.(11431-11433)gaT>gaC p.D3811D NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3811 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TACTTGGGGATATTGCCATTC 0.363000 40 44 0 0 0.000509022 0 0 TENM4 26011 broad.mit.edu 37 11 78413364 78413364 + Missense_Mutation SNP T T C TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:78413364T>C ENST00000278550.7 - 28 4756 c.4294A>G c.(4294-4296)Atc>Gtc p.I1432V NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TTTTCAGAGATTTGCAGGACC 0.547000 29 55 0 0 0.000227799 0 0 NPAP1 23742 broad.mit.edu 37 15 24921469 24921469 + Nonsense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr15:24921469G>A ENST00000329468.2 + 1 929 c.455G>A c.(454-456)tGg>tAg p.W152* NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ACCGAGGTGTGGGCCCAAGAA 0.617000 12 22 0 0 0.000151284 0 0 TSGA10 80705 broad.mit.edu 37 2 99722033 99722033 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:99722033C>T ENST00000393483.3 - 8 1182 c.338G>A c.(337-339)cGa>cAa p.R113Q TSGA10_ENST00000355053.4_Missense_Mutation_p.R113Q|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.R113Q|TSGA10_ENST00000539964.1_Missense_Mutation_p.R113Q|TSGA10_ENST00000542655.1_Missense_Mutation_p.R113Q NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 113 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 GGTCATTCTTCGTAAATCAGT 0.398000 54 123 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179401091 179401091 + Silent SNP A A G TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:179401091A>G ENST00000589042.1 - 357 100607 c.100383T>C c.(100381-100383)ctT>ctC p.L33461L TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L24396L|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342175.6_Silent_p.L24588L|TTN_ENST00000342992.6_Silent_p.L30893L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.L31820L|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.L24521L|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31820 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) ACTCGTATTCAAGACCTTCAA 0.393000 26 50 0 0 0.000878237 0 0 REEP1 65055 broad.mit.edu 37 2 86491156 86491156 + Nonsense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:86491156C>T ENST00000165698.5 - 3 257 c.114G>A c.(112-114)tgG>tgA p.W38* REEP1_ENST00000540790.1_Nonsense_Mutation_p.W17*|REEP1_ENST00000538924.1_Nonsense_Mutation_p.W45*|REEP1_ENST00000535845.1_Nonsense_Mutation_p.W11*|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000541910.1_Nonsense_Mutation_p.W38* NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 38 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 AGTACATCATCCATTTGACCT 0.463000 9 25 0 0 0.000274275 0 0 MUC16 94025 broad.mit.edu 37 19 9062146 9062146 + Missense_Mutation SNP T T G TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:9062146T>G ENST00000397910.4 - 3 25503 c.25300A>C c.(25300-25302)Agc>Cgc p.S8434R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8436 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGACAGTGCTTCCCTCTGTG 0.522000 20 59 0 0 0.000175454 0 0 MFSD2A 84879 broad.mit.edu 37 1 40432817 40432817 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:40432817C>T ENST00000372809.5 + 9 1169 c.1026C>T c.(1024-1026)ttC>ttT p.F342F MFSD2A_ENST00000420632.2_Silent_p.F173F|MFSD2A_ENST00000480630.1_Intron|MFSD2A_ENST00000372811.5_Silent_p.F329F NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 342 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 GCAATGAATTCCAGAATCTAC 0.547000 16 39 0 0 0.00074312 0 0 SSH1 54434 broad.mit.edu 37 12 109182005 109182005 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:109182005G>A ENST00000326495.5 - 15 3002 c.2909C>T c.(2908-2910)tCt>tTt p.S970F SSH1_ENST00000360239.3_Missense_Mutation_p.S658F NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 970 Interaction with YWHAG. actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CAGTGGGGAAGAGACGGTGAG 0.632000 52 115 0 0 0.000781405 0 0 ZNF462 58499 broad.mit.edu 37 9 109691314 109691314 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr9:109691314C>T ENST00000277225.5 + 3 5410 c.5121C>T c.(5119-5121)ccC>ccT p.P1707P ZNF462_ENST00000457913.1_Silent_p.P1707P|ZNF462_ENST00000441147.2_Silent_p.P552P Q96JM2 ZN462_HUMAN zinc finger protein 462 1707 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 ACACCAACCCCATCCGCAAAG 0.567000 10 27 0 0 6.40141e-05 0 0 ALPK1 80216 broad.mit.edu 37 4 113353728 113353728 + Silent SNP C C A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:113353728C>A ENST00000458497.1 + 11 3304 c.3025C>A c.(3025-3027)Cga>Aga p.R1009R ALPK1_ENST00000177648.9_Silent_p.R1009R|ALPK1_ENST00000504176.2_Silent_p.R931R NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1009 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TCAACTCCACCGAGCACATAG 0.468000 21 74 1.28384e-07 1.38515e-06 0.000229342 1 0 MYH2 4620 broad.mit.edu 37 17 10430322 10430322 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:10430322G>A ENST00000245503.5 - 29 4307 c.3923C>T c.(3922-3924)tCa>tTa p.S1308L MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S1308L|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1308 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1308*(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTTGCCTCTTGATAACTGAGA 0.373000 13 38 0 0 0.000151284 0 0 CELF4 56853 broad.mit.edu 37 18 34854416 34854416 + Splice_Site SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr18:34854416C>T ENST00000420428.2 - 6 1054 c.657_splice c.e6-1 p.G220_splice CELF4_ENST00000603232.1_Splice_Site_p.G220_splice|CELF4_ENST00000361795.5_Splice_Site_p.G219_splice|CELF4_ENST00000588597.1_Splice_Site_p.G209_splice|CELF4_ENST00000591287.1_Splice_Site_p.G219_splice|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000334919.5_Splice_Site_p.G210_splice|CELF4_ENST00000601019.1_Splice_Site_p.G219_splice|CELF4_ENST00000412753.1_Splice_Site_p.G220_splice|CELF4_ENST00000591282.1_Splice_Site_p.G220_splice NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 220 RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 GGACGAGGCTCCCTGCGGCCG 0.711000 21 49 0 0 0.000295444 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77396150 77396150 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:77396150C>T ENST00000282849.5 - 7 1486 c.1068G>A c.(1066-1068)ttG>ttA p.L356L NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 356 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GATGGTTGATCAATAATCCTC 0.408000 11 27 0 0 0.000673444 0 0 MEP1B 4225 broad.mit.edu 37 18 29790524 29790524 + Missense_Mutation SNP T T C TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr18:29790524T>C ENST00000269202.6 + 10 1027 c.980T>C c.(979-981)cTg>cCg p.L327P MEP1B_ENST00000581447.1_Missense_Mutation_p.L327P NM_005925.2 NP_005916.2 Q16820 MEP1B_HUMAN meprin A, beta 327 MAM. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 ACAGCAGTGCTGGAAAGTAGA 0.408000 15 30 0 0 0.000422831 0 0 CSMD2 114784 broad.mit.edu 37 1 34006261 34006261 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:34006261C>T ENST00000373381.4 - 60 9671 c.9495G>A c.(9493-9495)ggG>ggA p.G3165G NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3139 Sushi 25. integral to membrane|plasma membrane protein binding p.G3021G(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCACCACCTTCCCATTGGGGA 0.602000 12 26 0 0 0.000219431 0 0 IMPA2 3613 broad.mit.edu 37 18 12028930 12028930 + Nonsense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr18:12028930G>A ENST00000269159.3 + 7 931 c.689G>A c.(688-690)tGg>tAg p.W230* IMPA2_ENST00000588927.1_Nonsense_Mutation_p.W41*|IMPA2_ENST00000589238.1_Nonsense_Mutation_p.W41* NM_014214.2 NP_055029.1 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 230 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1) 12 Lithium(DB01356) CTGCACTGCTGGGATCTGGCG 0.597000 13 29 0 0 0.00010058 0 0 PLXNB1 5364 broad.mit.edu 37 3 48453414 48453414 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:48453414G>A ENST00000358536.4 - 28 5374 c.5105C>T c.(5104-5106)tCc>tTc p.S1702F PLXNB1_ENST00000296440.6_Missense_Mutation_p.S1702F|PLXNB1_ENST00000358459.4_Missense_Mutation_p.S1519F|PLXNB1_ENST00000448774.2_Missense_Mutation_p.S313F|PLXNB1_ENST00000456774.1_Missense_Mutation_p.S1519F NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1702 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTCCCCTACGGAGTCCTAGGA 0.572000 35 79 0 0 0.000814825 0 0 OR1L3 26735 broad.mit.edu 37 9 125437994 125437994 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr9:125437994G>A ENST00000304820.2 + 1 680 c.586G>A c.(586-588)Gaa>Aaa p.E196K NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 CTTTGTCAATGAAATTGTGGC 0.433000 44 107 0 0 0.000781405 0 0 SEC16A 9919 broad.mit.edu 37 9 139353682 139353682 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr9:139353682G>A ENST00000313050.7 - 15 5386 c.5313C>T c.(5311-5313)ttC>ttT p.F1771F SEC16A_ENST00000371706.3_Silent_p.F1593F|SEC16A_ENST00000290037.6_Silent_p.F1593F|SEC16A_ENST00000431893.2_Silent_p.F1593F NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1593 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CGAACTTTAAGAATGGCAAAC 0.473000 26 41 0 0 0.000878237 0 0 CATSPER4 378807 broad.mit.edu 37 1 26524513 26524513 + Missense_Mutation SNP T T G TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:26524513T>G ENST00000456354.2 + 5 690 c.623T>G c.(622-624)cTg>cGg p.L208R NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 208 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) CGCGTCATCCTGCAGTCGGTG 0.637000 42 97 0 0 0.000781405 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661959 77661959 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:77661959C>T ENST00000296043.6 + 5 3586 c.2633C>T c.(2632-2634)cCc>cTc p.P878L NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 878 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGCCGTGGCCCCCAGAGGCCG 0.697000 8 15 0 0 0.000157383 0 0 C1orf173 127254 broad.mit.edu 37 1 75037410 75037410 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:75037410C>T ENST00000326665.5 - 14 4202 c.3984G>A c.(3982-3984)aaG>aaA p.K1328K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1328 Glu-rich. p.K1328K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGCCCTCATTCTTTTGTGTGT 0.557000 30 81 0 0 0.000339439 0 0 PCDH18 54510 broad.mit.edu 37 4 138442609 138442609 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:138442609C>T ENST00000344876.4 - 4 3368 c.2982G>A c.(2980-2982)gaG>gaA p.E994E PCDH18_ENST00000412923.2_Silent_p.E993E|PCDH18_ENST00000511115.1_Silent_p.E174E|PCDH18_ENST00000510305.1_Silent_p.E205E|PCDH18_ENST00000507846.1_Silent_p.E773E NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 994 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CCCCAGTGTCCTCATCGTTTG 0.507000 10 21 0 0 0.000673444 0 0 TTN 7273 broad.mit.edu 37 2 179612686 179612686 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:179612686C>T ENST00000360870.5 - 46 14663 c.14441G>A c.(14440-14442)gGt>gAt p.G4814D TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 924 Ig-like 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) CTGAACATCACCTCTGTGGTC 0.468000 18 29 0 0 0.00074312 0 0 METTL2A 339175 broad.mit.edu 37 17 60501661 60501661 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:60501661G>A ENST00000311506.5 + 2 228 c.192G>A c.(190-192)caG>caA p.Q64Q NM_181725.3 NP_859076.3 Q96IZ6 MTL2A_HUMAN methyltransferase like 2A 64 methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2) 6 BRCA - Breast invasive adenocarcinoma(2;1.08e-10) GGGTGTGCCAGGAGAAACAAG 0.607000 OREG0024635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 24 0 0 0.000274275 0 0 STRN 6801 broad.mit.edu 37 2 37096793 37096793 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:37096793G>A ENST00000263918.4 - 11 1411 c.1403C>T c.(1402-1404)gCc>gTc p.A468V STRN_ENST00000379213.2_Missense_Mutation_p.A419V NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 468 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) GAAAGCAAGGGCTCGGATGCC 0.383000 13 23 0 0 0.000422831 0 0 RASSF8 11228 broad.mit.edu 37 12 26217895 26217895 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:26217895G>A ENST00000405154.2 + 3 767 c.568G>A c.(568-570)Gaa>Aaa p.E190K RASSF8_ENST00000282884.9_Missense_Mutation_p.E190K|RASSF8_ENST00000542865.1_Missense_Mutation_p.E190K|RASSF8_ENST00000381352.3_Missense_Mutation_p.E190K|RASSF8_ENST00000541490.1_Missense_Mutation_p.E190K NM_001164748.1 NP_001158220.1 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 190 Glu-rich. signal transduction cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1) 25 Colorectal(261;0.0847) TAATGAAATAGAAATAAGATT 0.373000 15 39 0 0 0.000308642 0 0 RGL4 266747 broad.mit.edu 37 22 24034621 24034621 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr22:24034621G>A ENST00000290691.5 + 2 1449 c.279G>A c.(277-279)agG>agA p.R93R GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_5'UTR NM_153615.1 NP_705843.1 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation stimulator-like 4 93 small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 TGGCCTTCAGGAACCTCTCCT 0.562000 30 59 0 0 0.000147802 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64606355 64606355 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:64606355G>A ENST00000342711.5 - 8 895 c.896C>T c.(895-897)cCg>cTg p.P299L NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 299 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 AGGCACGTCCGGGGGGAACTG 0.672000 6 17 0 0 0.000157383 0 0 B3GALNT1 8706 broad.mit.edu 37 3 160804148 160804148 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:160804148G>A ENST00000392781.2 - 8 1142 c.395C>T c.(394-396)tCc>tTc p.S132F B3GALNT1_ENST00000320474.4_Missense_Mutation_p.S132F|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.S132F|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.S132F|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.S132F|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.S132F NM_001038628.1 NP_001033717.1 O75752 B3GL1_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) 132 protein glycosylation Golgi membrane|integral to membrane galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) ATCCTCTAAGGACAATGCCAA 0.383000 23 61 0 0 0.00047179 0 0 GTPBP8 29083 broad.mit.edu 37 3 112710060 112710060 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:112710060G>A ENST00000383677.3 + 1 229 c.214G>A c.(214-216)Gac>Aac p.D72N GTPBP8_ENST00000383678.2_Missense_Mutation_p.D72N NM_138485.1 NP_612494.1 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 (putative) 72 barrier septum formation GTP binding kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 6 GCGTATCTTTGACCCAAGCCC 0.622000 10 26 0 0 6.40141e-05 0 0 OR6F1 343169 broad.mit.edu 37 1 247875625 247875625 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:247875625C>T ENST00000302084.2 - 1 480 c.433G>A c.(433-435)Gcc>Acc p.A145T RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GAGCCCAGGGCCAGCTGCGCT 0.587000 7 40 0 0 0.000157383 0 0 OR5P2 120065 broad.mit.edu 37 11 7817741 7817741 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:7817741G>A ENST00000329434.2 - 1 779 c.749C>T c.(748-750)aCc>aTc p.T250I RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GAAGGTAATGGTCCCATAGAA 0.502000 22 51 0 0 0.000295444 0 0 SLC38A1 81539 broad.mit.edu 37 12 46598182 46598182 + Nonsense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:46598182G>A ENST00000398637.5 - 11 1418 c.724C>T c.(724-726)Caa>Taa p.Q242* SLC38A1_ENST00000552197.1_Nonsense_Mutation_p.Q242*|SLC38A1_ENST00000546893.1_Nonsense_Mutation_p.Q242*|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Nonsense_Mutation_p.Q242*|SLC38A1_ENST00000549049.1_Nonsense_Mutation_p.Q242* NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 242 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) CAGGGAATTTGAAATTTCTTG 0.323000 36 66 0 0 0.000814825 0 0 MYO15A 51168 broad.mit.edu 37 17 18022335 18022335 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:18022335G>A ENST00000205890.5 + 2 559 c.221G>A c.(220-222)aGg>aAg p.R74K NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 74 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AAGCGCAAGAGGAAGGCCCGC 0.622000 7 6 0 0 0.000274275 0 0 OR9G1 390174 broad.mit.edu 37 11 56468739 56468739 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:56468739G>A ENST00000312153.1 + 1 876 c.876G>A c.(874-876)agG>agA p.R292R NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 ACAGCCTAAGGAATAAGGATG 0.388000 17 42 0 0 0.00074312 0 0 GEM 2669 broad.mit.edu 37 8 95262563 95262563 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:95262563G>A ENST00000297596.2 - 5 1130 c.866C>T c.(865-867)tCc>tTc p.S289F GEM_ENST00000396194.2_Missense_Mutation_p.S289F NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 289 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) GTCATGGCAGGATTTGGACTT 0.493000 16 50 0 0 0.000132079 0 0 AGO1 26523 broad.mit.edu 37 1 36379791 36379791 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:36379791C>T ENST00000373204.4 + 14 1962 c.1749C>T c.(1747-1749)gcC>gcT p.A583A AGO1_ENST00000373206.1_Silent_p.A508A NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 TCAGCTCTGCCGTTTTTCAAC 0.502000 31 59 0 0 0.00058488 0 0 SEZ6L 23544 broad.mit.edu 37 22 26706636 26706636 + Splice_Site SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr22:26706636G>A ENST00000529632.2 + 7 1711 c.1514_splice c.e7-1 p.R505_splice SEZ6L_ENST00000343706.4_Splice_Site_p.R505_splice|SEZ6L_ENST00000248933.6_Splice_Site_p.R505_splice|SEZ6L_ENST00000403121.1_Splice_Site_p.R278_splice|SEZ6L_ENST00000402979.1_Splice_Site_p.R278_splice|SEZ6L_ENST00000360929.3_Splice_Site_p.R505_splice|SEZ6L_ENST00000404234.3_Splice_Site_p.R505_splice NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 505 CUB 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CCACTGCCAGGATGACGGTTC 0.562000 9 31 0 0 0.000442599 0 0 DEPDC5 9681 broad.mit.edu 37 22 32200897 32200897 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr22:32200897C>T ENST00000400246.1 + 17 1355 c.1213C>T c.(1213-1215)Cac>Tac p.H405Y DEPDC5_ENST00000266091.3_Missense_Mutation_p.H405Y|DEPDC5_ENST00000535622.1_Missense_Mutation_p.H405Y|DEPDC5_ENST00000382111.2_Missense_Mutation_p.H405Y|DEPDC5_ENST00000400242.3_Missense_Mutation_p.H405Y|DEPDC5_ENST00000400248.1_Missense_Mutation_p.H405Y|DEPDC5_ENST00000382105.2_Missense_Mutation_p.H405Y|DEPDC5_ENST00000400249.2_Missense_Mutation_p.H405Y|DEPDC5_ENST00000382112.3_Missense_Mutation_p.H405Y|DEPDC5_ENST00000536766.1_Missense_Mutation_p.H377Y O75140 DEPD5_HUMAN DEP domain containing 5 405 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CTGGATAAACCACAGGTGGGT 0.428000 43 92 0 0 0.000680045 0 0 C1orf86 199990 broad.mit.edu 37 1 2125233 2125233 + Translation_Start_Site SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:2125233G>A ENST00000400919.3 - 0 306 C1orf86_ENST00000378546.4_Silent_p.H105H|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000378545.3_Silent_p.H208H Q6NZ36 CA086_HUMAN chromosome 1 open reading frame 86 central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CTCCTGCCCCGTGAAGCAGCC 0.697000 7 12 0 0 0.000274275 0 0 ANO1 55107 broad.mit.edu 37 11 70007349 70007349 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:70007349C>T ENST00000355303.5 + 17 1966 c.1661C>T c.(1660-1662)cCc>cTc p.P554L ANO1_ENST00000530676.1_Missense_Mutation_p.P408L|ANO1_ENST00000398543.2_Missense_Mutation_p.P408L|ANO1_ENST00000531349.1_Missense_Mutation_p.P263L|ANO1_ENST00000538023.1_Missense_Mutation_p.P554L|ANO1_ENST00000316296.5_Missense_Mutation_p.P496L NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 554 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 AACTCCTCCCCCTCCGTGCGG 0.592000 16 42 0 0 0.000566183 0 0 EHMT1 79813 broad.mit.edu 37 9 140729342 140729342 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr9:140729342C>T ENST00000460843.1 + 27 3861 c.3834C>T c.(3832-3834)gcC>gcT p.A1278A NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1278 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CCAGCGCGGCCCAGGAGGCCC 0.741000 7 4 0 0 8.12818e-05 0 0 FRG1B 284802 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 5 72 0 0 8.12818e-05 0 0 NOBOX 135935 broad.mit.edu 37 7 144101719 144101719 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr7:144101719C>T ENST00000467773.1 - 2 139 c.140G>A c.(139-141)gGa>gAa p.G47E NOBOX_ENST00000483238.1_Missense_Mutation_p.G47E NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 47 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) GCCACAGACTCCGTAGATCCG 0.572000 13 47 0 0 0.000219431 0 0 SYDE2 84144 broad.mit.edu 37 1 85624749 85624749 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:85624749C>T ENST00000341460.5 - 7 3318 c.3269G>A c.(3268-3270)gGa>gAa p.G1090E NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 1090 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) GCTCCAGTCTCCTGCATAACG 0.383000 58 108 0 0 0.000781405 0 0 GKN1 56287 broad.mit.edu 37 2 69207947 69207947 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:69207947G>A ENST00000377938.2 + 6 655 c.592G>A c.(592-594)Gag>Aag p.E198K NM_019617.3 NP_062563.3 Q9NS71 GKN1_HUMAN gastrokine 1 198 digestion|positive regulation of cell division extracellular region breast(2)|large_intestine(4)|lung(5) 11 AGACACGGTGGAGAACTAAAC 0.393000 18 30 0 0 0.000132079 0 0 DDX60 55601 broad.mit.edu 37 4 169204660 169204660 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:169204660G>A ENST00000393743.3 - 13 1950 c.1659C>T c.(1657-1659)atC>atT p.I553I NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 553 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GAGTCACGATGATTTTCGAAG 0.348000 19 33 0 0 0.000132079 0 0 LGI1 9211 broad.mit.edu 37 10 95557310 95557310 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr10:95557310G>A ENST00000371418.4 + 8 1684 c.1424G>A c.(1423-1425)gGa>gAa p.G475E LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.G427E NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 475 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) CCATCGCGAGGATCCATGGTG 0.428000 16 14 0 0 0.000308642 0 0 DHX33 56919 broad.mit.edu 37 17 5359376 5359376 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:5359376G>A ENST00000225296.3 - 5 1176 c.976C>T c.(976-978)Cct>Tct p.P326S DHX33_ENST00000433302.3_Missense_Mutation_p.S139F NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 326 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GCGTACAGAGGAAGGACCAGC 0.607000 10 12 0 0 0.000673444 0 0 ATP11B 23200 broad.mit.edu 37 3 182545993 182545993 + Missense_Mutation SNP T T G TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:182545993T>G ENST00000323116.5 + 3 490 c.230T>G c.(229-231)gTt>gGt p.V77G ATP11B_ENST00000493826.1_Missense_Mutation_p.V77G NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 77 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) ATATTTTTGGTTCAGGTAAGC 0.269000 21 56 0 0 0.000229342 0 0 DSG1 1828 broad.mit.edu 37 18 28909955 28909955 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr18:28909955C>T ENST00000257192.4 + 5 685 c.473C>T c.(472-474)tCa>tTa p.S158L NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 158 Cadherin 1. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CCAGTGTTTTCAATGGCTACA 0.433000 20 35 0 0 0.000175454 0 0 MORC1 27136 broad.mit.edu 37 3 108725917 108725917 + Missense_Mutation SNP C C T rs138435095 TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:108725917C>T ENST00000232603.5 - 18 1808 c.1726G>A c.(1726-1728)Gaa>Aaa p.E576K MORC1_ENST00000483760.1_Intron NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 576 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.E576K(2) breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 ACAGTGATTTCGTCCACTGGT 0.363000 15 35 0 0 0.000308642 0 0 B3GAT3 26229 broad.mit.edu 37 11 62384058 62384058 + Missense_Mutation SNP G G A rs149098151 TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:62384058G>A ENST00000531383.1 - 4 1035 c.829C>T c.(829-831)Cgg>Tgg p.R277W B3GAT3_ENST00000534026.1_Missense_Mutation_p.R277W|B3GAT3_ENST00000265471.5_Missense_Mutation_p.R277W O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) 277 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1) 12 AGGTGGCCCCGGGGAGCGGTG 0.612000 19 33 0 0 0.000175454 0 0 PKD1 5310 broad.mit.edu 37 16 2140588 2140588 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:2140588C>T ENST00000262304.4 - 45 12350 c.12142G>A c.(12142-12144)Gtg>Atg p.V4048M PKD1_ENST00000423118.1_Missense_Mutation_p.V4047M NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 4048 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CAGGAAGACACGAGCTGCGGG 0.662000 5 4 0 0 0.000602214 0 0 SPEF2 79925 broad.mit.edu 37 5 35753855 35753855 + Missense_Mutation SNP C C A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr5:35753855C>A ENST00000440995.2 + 24 3445 c.3445C>A c.(3445-3447)Ctg>Atg p.L1149M CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.L1154M Q9C093 SPEF2_HUMAN sperm flagellar 2 1154 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTTCTTTTCCCTGATGCAGGT 0.488000 32 96 3.90053e-15 4.28964e-14 0.000409698 1 0 EFHC1 114327 broad.mit.edu 37 6 52344018 52344018 + Missense_Mutation SNP A A T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:52344018A>T ENST00000371068.5 + 8 1565 c.1462A>T c.(1462-1464)Agt>Tgt p.S488C EFHC1_ENST00000538167.1_Missense_Mutation_p.S469C|EFHC1_ENST00000433625.2_Missense_Mutation_p.S397C NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 488 DM10 3. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) CTATGGCCCCAGTGACTTCTT 0.433000 21 49 0 0 0.000229342 0 0 CRTC1 23373 broad.mit.edu 37 19 18882306 18882306 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:18882306C>T ENST00000338797.6 + 12 1448 c.1423C>T c.(1423-1425)Ccc>Tcc p.P475S CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000321949.8_Missense_Mutation_p.P459S|CRTC1_ENST00000594658.1_Missense_Mutation_p.P418S NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 459 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 CAACCAGTCTCCCACCTCGCC 0.677000 9 14 0 0 6.40141e-05 0 0 BIN2 51411 broad.mit.edu 37 12 51695844 51695844 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:51695844C>T ENST00000267012.4 - 5 429 c.368G>A c.(367-369)aGg>aAg p.R123K BIN2_ENST00000604560.1_Missense_Mutation_p.R96K|BIN2_ENST00000544402.1_Missense_Mutation_p.R97K|BIN2_ENST00000452142.2_Intron NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 123 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 TTCCATGGTCCTTACAGCCTG 0.463000 11 36 0 0 6.40141e-05 0 0 OR4D9 390199 broad.mit.edu 37 11 59283138 59283138 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:59283138C>T ENST00000329328.3 + 1 753 c.753C>T c.(751-753)ttC>ttT p.F251F NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 CCCTGCATTTCGTGCCCTGCA 0.562000 67 94 0 0 0.000781405 0 0 AKAP8L 26993 broad.mit.edu 37 19 15512299 15512299 + Nonsense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:15512299G>A ENST00000397410.4 - 5 542 c.478C>T c.(478-480)Caa>Taa p.Q160* AKAP8L_ENST00000595465.1_Nonsense_Mutation_p.Q99*|AKAP8L_ENST00000595136.1_Intron NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 160 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 GCATCGTATTGGCCCTCATAG 0.647000 10 10 0 0 0.00010058 0 0 ALG12 79087 broad.mit.edu 37 22 50307357 50307357 + Silent SNP G G A rs145640635 TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr22:50307357G>A ENST00000330817.5 - 2 330 c.57C>T c.(55-57)gcC>gcT p.A19A NM_024105.3 NP_077010.1 Q9BV10 ALG12_HUMAN ALG12, alpha-1,6-mannosyltransferase 19 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3) 12 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) CAGTGGCTACGGCCACCAGCA 0.602000 23 59 0 0 0.000720815 0 0 ATP11B 23200 broad.mit.edu 37 3 182545994 182545994 + Silent SNP T T A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:182545994T>A ENST00000323116.5 + 3 491 c.231T>A c.(229-231)gtT>gtA p.V77V ATP11B_ENST00000493826.1_Silent_p.V77V NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 77 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TATTTTTGGTTCAGGTAAGCT 0.274000 21 56 0 0 0.000229342 0 0 ATP2C2 9914 broad.mit.edu 37 16 84442070 84442070 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:84442070G>A ENST00000416219.2 + 4 476 c.387G>A c.(385-387)aaG>aaA p.K129K ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.K129K O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 129 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 TCCTCACCAAGGAGTATGAGG 0.587000 10 19 0 0 6.40141e-05 0 0 USP43 124739 broad.mit.edu 37 17 9590126 9590126 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:9590126C>T ENST00000570827.2 + 8 1394 c.320C>T c.(319-321)cCc>cTc p.P107L USP43_ENST00000285199.6_Missense_Mutation_p.P418L|USP43_ENST00000570475.1_Missense_Mutation_p.P418L|USP43_ENST00000575346.1_3'UTR Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 418 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 TTTGGGCCACCCTTCCTGATA 0.522000 4 13 0 0 0.00024832 0 0 NLRP2 55655 broad.mit.edu 37 19 55481567 55481567 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:55481567C>T ENST00000543010.1 + 2 327 c.184C>T c.(184-186)Cat>Tat p.H62Y NLRP2_ENST00000427260.2_Intron|NLRP2_ENST00000448584.2_Missense_Mutation_p.H62Y|NLRP2_ENST00000537859.1_Missense_Mutation_p.H62Y|NLRP2_ENST00000538819.1_Missense_Mutation_p.H62Y|NLRP2_ENST00000339757.7_Missense_Mutation_p.H62Y|NLRP2_ENST00000263437.6_Missense_Mutation_p.H62Y|NLRP2_ENST00000391721.4_Missense_Mutation_p.H62Y NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 62 DAPIN. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CCTCACCACCCATTGTGACAG 0.527000 22 51 0 0 0.000229342 0 0 KIAA1109 84162 broad.mit.edu 37 4 123109071 123109071 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:123109071C>T ENST00000264501.4 + 9 1022 c.649C>T c.(649-651)Cac>Tac p.H217Y KIAA1109_ENST00000388738.3_Missense_Mutation_p.H217Y|KIAA1109_ENST00000455637.1_Missense_Mutation_p.H217Y Q2LD37 K1109_HUMAN KIAA1109 217 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CTTTGGAAATCACTACCAGCC 0.333000 25 32 0 0 0.000878237 0 0 LMOD3 56203 broad.mit.edu 37 3 69171272 69171272 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:69171272C>T ENST00000420581.2 - 1 445 c.266G>A c.(265-267)cGa>cAa p.R89Q LMOD3_ENST00000489031.1_Missense_Mutation_p.R89Q|LMOD3_ENST00000475434.1_Missense_Mutation_p.R89Q NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 89 Glu-rich. cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) GACAGGAACTCGTTCCTCTTC 0.458000 5 11 0 0 3.59834e-05 0 0 TP63 8626 broad.mit.edu 37 3 189612269 189612269 + Missense_Mutation SNP G G A rs34713855 byFrequency TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:189612269G>A ENST00000264731.3 + 14 2110 c.2021G>A c.(2020-2022)cGc>cAc p.R674H TP63_ENST00000440651.2_Missense_Mutation_p.R670H|TP63_ENST00000449992.1_Missense_Mutation_p.R495H|TP63_ENST00000456148.1_Missense_Mutation_p.R576H|TP63_ENST00000354600.5_Missense_Mutation_p.R580H|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000382063.4_Missense_Mutation_p.R589H NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 674 Transactivation inhibition. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) AAGCAACAGCGCATCAAAGAG 0.537000 HNSCC(45;0.13) 11 23 0 0 0.00010058 0 0 MTIF2 4528 broad.mit.edu 37 2 55490859 55490859 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:55490859C>T ENST00000394600.3 - 5 872 c.136G>A c.(136-138)Gct>Act p.A46T MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000403721.1_Missense_Mutation_p.A46T|MTIF2_ENST00000263629.4_Missense_Mutation_p.A46T NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 46 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 CACAGTTGAGCTGTCCACACA 0.453000 34 50 0 0 0.00058488 0 0 TM2D2 83877 broad.mit.edu 37 8 38852864 38852864 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:38852864G>A ENST00000412303.1 - 2 553 c.159C>T c.(157-159)tcC>tcT p.S53S TM2D2_ENST00000397070.2_Silent_p.S53S|TM2D2_ENST00000456845.2_Silent_p.S53S|TM2D2_ENST00000456397.2_Silent_p.S96S|TM2D2_ENST00000522434.1_5'UTR NM_001024380.1|NM_001024381.1|NM_031940.3 NP_001019551.1|NP_001019552.1|NP_114146.3 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 96 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) CAAGTTCCTGGGATGCAGTTG 0.383000 17 59 0 0 0.000229342 0 0 DSCAM 1826 broad.mit.edu 37 21 41447102 41447102 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr21:41447102C>T ENST00000400454.1 - 27 5227 c.4750G>A c.(4750-4752)Gaa>Aaa p.E1584K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1584 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) AGCCCTTCTTCGTTTTGGACA 0.527000 9 30 0 0 0.000442599 0 0 SEPT4 5414 broad.mit.edu 37 17 56599115 56599115 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:56599115C>T ENST00000457347.2 - 8 1086 c.942G>A c.(940-942)gtG>gtA p.V314V SEPT4_ENST00000580809.1_3'UTR|SEPT4_ENST00000317268.3_Silent_p.V299V|SEPT4_ENST00000580844.1_Silent_p.V200V|SEPT4_ENST00000579371.1_Silent_p.V200V|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Silent_p.V291V|SEPT4_ENST00000583114.1_Silent_p.V152V|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000317256.6_Silent_p.V280V|SEPT4_ENST00000393086.1_Silent_p.V280V NM_001256782.1 NP_001243711.1 O43236 SEPT4_HUMAN septin 4 299 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCTTGTGGTCCACTTCGGGAG 0.567000 17 45 0 0 0.000566183 0 0 CCDC33 80125 broad.mit.edu 37 15 74627405 74627405 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr15:74627405G>A ENST00000321288.5 + 21 2826 c.2826G>A c.(2824-2826)tcG>tcA p.S942S CCDC33_ENST00000558821.1_Silent_p.S298S|CCDC33_ENST00000398814.3_Silent_p.S705S|CCDC33_ENST00000268082.4_Silent_p.S332S Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 908 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGCACCCCTCGAACTCCATCA 0.587000 24 68 0 0 0.000586117 0 0 HEATR6 63897 broad.mit.edu 37 17 58134512 58134512 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:58134512G>A ENST00000184956.6 - 12 1992 c.1976C>T c.(1975-1977)tCc>tTc p.S659F HEATR6_ENST00000585976.1_Missense_Mutation_p.S659F NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 659 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) TACGACAATGGAAATGCAGAG 0.557000 24 60 0 0 0.000147802 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713843 70713843 + RNA SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:70713843C>T ENST00000530196.1 - 0 675 NR_003951.1 CGTGCTACTTCCTTCTCTGTT 0.453000 13 40 0 0 0.000151284 0 0 ZBTB1 22890 broad.mit.edu 37 14 64989726 64989726 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:64989726G>A ENST00000358738.3 + 2 1895 c.1504G>A c.(1504-1506)Gat>Aat p.D502N ZBTB1_ENST00000554015.1_Missense_Mutation_p.D502N|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.D502N NM_014950.2 NP_055765.2 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 502 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) CGAAATAAGAGATATGTTTGT 0.403000 25 51 0 0 0.000375601 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21790021 21790021 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:21790021G>A ENST00000206660.6 + 13 1620 c.1620G>A c.(1618-1620)ctG>ctA p.L540L RPGRIP1_ENST00000400017.2_Silent_p.L540L|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000557771.1_Silent_p.L513L|RPGRIP1_ENST00000556336.1_Silent_p.L513L|RPGRIP1_ENST00000382933.4_Silent_p.L182L Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 540 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) AGGAGGAACTGGAGGCAATGA 0.408000 6 12 0 0 0.000157383 0 0 DHX35 60625 broad.mit.edu 37 20 37632434 37632434 + Nonsense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr20:37632434C>T ENST00000252011.3 + 11 928 c.895C>T c.(895-897)Cga>Tga p.R299* DHX35_ENST00000373325.2_Nonsense_Mutation_p.R299*|DHX35_ENST00000373323.4_Nonsense_Mutation_p.R268* NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 299 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) CGAGCAGGCTCGAGCACTAGC 0.468000 24 54 0 0 0.000720815 0 0 PEX11B 8799 broad.mit.edu 37 1 145522896 145522896 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:145522896C>T ENST00000369306.3 + 4 906 c.757C>T c.(757-759)Ccc>Tcc p.P253S PEX11B_ENST00000537888.1_Missense_Mutation_p.P239S NM_003846.2 NP_003837.1 O96011 PX11B_HUMAN peroxisomal biogenesis factor 11 beta 253 Interaction with PEX19 and peroxisome targeting. peroxisome fission|signal transduction integral to peroxisomal membrane protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCTAATCTATCCCTGGCTACG 0.552000 25 44 0 0 0.000878237 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 21 48 0 0 0.00047179 0 0 ADAM15 8751 broad.mit.edu 37 1 155028324 155028324 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:155028324C>T ENST00000356955.2 + 7 772 c.671C>T c.(670-672)tCg>tTg p.S224L ADAM15_ENST00000355956.2_Missense_Mutation_p.S224L|ADAM15_ENST00000360674.4_Missense_Mutation_p.S224L|ADAM15_ENST00000271836.6_Missense_Mutation_p.S224L|ADAM15_ENST00000531455.1_Missense_Mutation_p.S234L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.S224L|ADAM15_ENST00000368412.3_Missense_Mutation_p.S224L|ADAM15_ENST00000359280.4_Missense_Mutation_p.S224L|ADAM15_ENST00000447332.3_Missense_Mutation_p.S208L|ADAM15_ENST00000368410.2_Intron NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 224 Peptidase M12B. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GCTGATCACTCGGAGGTGAGC 0.572000 23 45 0 0 0.000375601 0 0 OR5T1 390155 broad.mit.edu 37 11 56043805 56043805 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:56043805G>A ENST00000313033.2 + 1 777 c.691G>A c.(691-693)Ggt>Agt p.G231S NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GATCTCCTATGGTTTTATTCT 0.418000 39 92 0 0 0.000191422 0 0 DDX60 55601 broad.mit.edu 37 4 169204743 169204743 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:169204743G>A ENST00000393743.3 - 13 1867 c.1576C>T c.(1576-1578)Cct>Tct p.P526S NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 526 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AGAACACGAGGGTCTCTAGAT 0.318000 10 26 0 0 0.000673444 0 0 MPP2 4355 broad.mit.edu 37 17 41955276 41955276 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:41955276G>A ENST00000269095.4 - 13 1862 c.1558C>T c.(1558-1560)Ctg>Ttg p.L520L MPP2_ENST00000520305.1_Silent_p.L381L|MPP2_ENST00000377184.3_Silent_p.L537L|MPP2_ENST00000518766.1_Silent_p.L565L|MPP2_ENST00000461854.1_Silent_p.L544L|MPP2_ENST00000536246.1_Silent_p.L509L|MPP2_ENST00000523501.1_Silent_p.L509L NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 544 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CTATTGACCAGGCAGAGGTCA 0.637000 17 23 0 0 0.000132079 0 0 MYH15 22989 broad.mit.edu 37 3 108117571 108117571 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:108117571G>A ENST00000273353.3 - 36 5162 c.5106C>T c.(5104-5106)tcC>tcT p.S1702S NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1702 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCTCTTGCAGGGACCTTAGAT 0.522000 61 135 0 0 0.000781405 0 0 TECTA 7007 broad.mit.edu 37 11 121028933 121028933 + Splice_Site SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:121028933G>A ENST00000392793.1 + 14 4960 c.4689_splice c.e14+1 p.K1563_splice TECTA_ENST00000264037.2_Splice_Site_p.K1563_splice O75443 TECTA_HUMAN tectorin alpha 1563 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ACACGGTCAAGGTAACCAGCC 0.532000 21 27 0 0 0.000175454 0 0 ARNTL2 56938 broad.mit.edu 37 12 27533206 27533206 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:27533206G>A ENST00000544915.1 + 4 470 c.251G>A c.(250-252)cGg>cAg p.R84Q ARNTL2_ENST00000266503.5_Missense_Mutation_p.R118Q|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R70Q|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R81Q|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R33Q|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R104Q|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R81Q NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 118 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) ACTGAAAAGCGGAGGAGAGAT 0.443000 13 24 0 0 0.000422831 0 0 CASS4 57091 broad.mit.edu 37 20 55033749 55033749 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr20:55033749G>A ENST00000371336.3 + 6 2508 c.2307G>A c.(2305-2307)gcG>gcA p.A769A CASS4_ENST00000360314.3_Silent_p.A769A|CASS4_ENST00000434344.1_Silent_p.A332A NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 769 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 ACCTCCAGGCGGAGGCTGAGA 0.627000 4 21 0 0 3.59834e-05 0 0 SCRN2 90507 broad.mit.edu 37 17 45915659 45915659 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:45915659G>A ENST00000407215.3 - 7 1177 c.1096C>T c.(1096-1098)Ctg>Ttg p.L366L SCRN2_ENST00000584123.1_Silent_p.L374L|SCRN2_ENST00000290216.9_Silent_p.L366L Q96FV2 SCRN2_HUMAN secernin 2 366 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 ATCAGCCCCAGGGCTGCCTGG 0.592000 7 40 0 0 8.12818e-05 0 0 TMC7 79905 broad.mit.edu 37 16 19056266 19056266 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:19056266C>T ENST00000421369.3 + 10 1626 c.1068C>T c.(1066-1068)atC>atT p.I356I TMC7_ENST00000304381.5_Silent_p.I466I|TMC7_ENST00000569532.1_Silent_p.I466I NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 466 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 GCTCCAAGATCACATCCTGTG 0.582000 26 61 0 0 0.000147802 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44219204 44219204 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:44219204C>T ENST00000371554.1 + 8 1387 c.1173C>T c.(1171-1173)tcC>tcT p.S391S HSP90AB1_ENST00000371646.5_Silent_p.S391S|HSP90AB1_ENST00000353801.3_Silent_p.S391S P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 391 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGAACATCTCCCGAGAAATGC 0.468000 9 17 0 0 0.000673444 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508179 37508179 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr10:37508179C>T ENST00000374660.1 + 40 3827 c.3728C>T c.(3727-3729)tCt>tTt p.S1243F ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S1124F|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S1124F Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1180 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATGCTCACTTCTAAATTGAAG 0.383000 57 44 0 0 0.000781405 0 0 ASAP1 50807 broad.mit.edu 37 8 131124416 131124416 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:131124416G>A ENST00000357668.1 - 23 2352 c.2325C>T c.(2323-2325)ttC>ttT p.F775F ASAP1_ENST00000518721.1_Silent_p.F775F Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 775 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding p.F775F(1) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 TTGTGGAAACGAAGATCTGGT 0.587000 27 51 0 0 0.000720815 0 0 IL1R1 3554 broad.mit.edu 37 2 102789291 102789291 + Silent SNP A A T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:102789291A>T ENST00000410023.1 + 9 1302 c.984A>T c.(982-984)atA>atT p.I328I IL1R1_ENST00000409288.1_Silent_p.I328I|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000424272.1_Silent_p.I328I|IL1R1_ENST00000409929.1_Silent_p.I328I|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Silent_p.I328I|IL1R1_ENST00000233946.3_Silent_p.I328I P14778 IL1R1_HUMAN interleukin 1 receptor, type I 328 Ig-like C2-type 3. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) TCCAGTTAATATATCCAGGTA 0.313000 15 41 0 0 0.000308642 0 0 COL3A1 1281 broad.mit.edu 37 2 189849645 189849645 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:189849645C>T ENST00000304636.3 + 2 409 c.239C>T c.(238-240)cCa>cTa p.P80L COL3A1_ENST00000317840.5_Missense_Mutation_p.P80L NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 80 VWFC. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCAGAAATTCCATTTGGAGAA 0.413000 11 33 0 0 6.40141e-05 0 0 EXPH5 23086 broad.mit.edu 37 11 108409805 108409805 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:108409805G>A ENST00000265843.4 - 3 499 c.389C>T c.(388-390)tCa>tTa p.S130L EXPH5_ENST00000525344.1_Missense_Mutation_p.S123L|EXPH5_ENST00000428840.1_Missense_Mutation_p.S54L NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 130 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTTCCTGAATGAGAACAGGGA 0.408000 40 95 0 0 0.000319135 0 0 PFDN4 5203 broad.mit.edu 37 20 52831950 52831950 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr20:52831950G>A ENST00000371419.2 + 3 498 c.244G>A c.(244-246)Gaa>Aaa p.E82K PFDN4_ENST00000487129.1_3'UTR NM_002623.3 NP_002614.2 Q9NQP4 PFD4_HUMAN prefoldin subunit 4 82 'de novo' posttranslational protein folding prefoldin complex chaperone binding|unfolded protein binding endometrium(1)|kidney(2) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206) TTCTCAAGAAGAAACGCAAGA 0.318000 14 36 0 0 0.000219431 0 0 LGMN 5641 broad.mit.edu 37 14 93176153 93176153 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:93176153G>A ENST00000393218.2 - 12 1221 c.884C>T c.(883-885)cCc>cTc p.P295L LGMN_ENST00000555699.1_Missense_Mutation_p.P295L|LGMN_ENST00000557434.1_Missense_Mutation_p.P295L|LGMN_ENST00000334869.4_Missense_Mutation_p.P295L NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 295 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) TGGAGGTAGGGGGACGGGAGA 0.522000 25 54 0 0 0.000878237 0 0 NALCN 259232 broad.mit.edu 37 13 101762972 101762972 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr13:101762972C>T ENST00000251127.6 - 20 2443 c.2362G>A c.(2362-2364)Gat>Aat p.D788N NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 788 integral to membrane sodium channel activity|voltage-gated ion channel activity p.D788N(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAACTTACATCTTGAGTCAAA 0.388000 26 52 0 0 0.000184323 0 0 PRLR 5618 broad.mit.edu 37 5 35070305 35070305 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr5:35070305G>A ENST00000382002.5 - 7 1032 c.606C>T c.(604-606)taC>taT p.Y202Y PRLR_ENST00000310101.5_Silent_p.Y202Y|PRLR_ENST00000513753.1_Silent_p.Y202Y|PRLR_ENST00000542609.1_Silent_p.Y202Y|PRLR_ENST00000397391.3_Silent_p.Y131Y|PRLR_ENST00000231423.3_Silent_p.Y202Y|PRLR_ENST00000348262.3_Silent_p.Y202Y|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000342362.5_Silent_p.Y101Y|PRLR_ENST00000511486.1_Silent_p.Y101Y NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 202 Fibronectin type-III 2. activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CCTGGACAAGGTATTTCTGTC 0.448000 11 47 0 0 0.000151284 0 0 SP140 11262 broad.mit.edu 37 2 231113639 231113639 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:231113639G>A ENST00000392045.3 + 9 1046 c.932G>A c.(931-933)gGa>gAa p.G311E SP140_ENST00000343805.6_Missense_Mutation_p.G285E|SP140_ENST00000417495.3_Missense_Mutation_p.G258E|SP140_ENST00000350136.5_Missense_Mutation_p.G241E|SP140_ENST00000486687.2_Missense_Mutation_p.G235E|SP140_ENST00000420434.3_Missense_Mutation_p.G311E NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 311 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ACTAATGAAGGAGAACCAGAG 0.408000 17 23 0 0 0.000958276 0 0 COL22A1 169044 broad.mit.edu 37 8 139611141 139611141 + Splice_Site SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:139611141C>T ENST00000303045.6 - 61 4632 c.4185_splice c.e61-1 p.G1396_splice COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.G1376_splice NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1396 Collagen-like 14.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCAGGATCTCCCTAAGGAGGA 0.567000 HNSCC(7;0.00092) 5 14 0 0 8.12818e-05 0 0 ENAH 55740 broad.mit.edu 37 1 225700625 225700625 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:225700625G>A ENST00000366844.2 - 8 1763 c.1312C>T c.(1312-1314)Cct>Tct p.P438S ENAH_ENST00000284563.6_Missense_Mutation_p.P685S|ENAH_ENST00000366843.2_Missense_Mutation_p.P438S NM_001008493.1 NP_001008493.1 Q8N8S7 ENAH_HUMAN enabled homolog (Drosophila) 438 EVH2. axon guidance|intracellular transport|T cell receptor signaling pathway cytosol|filopodium|focal adhesion|lamellipodium|synapse actin binding|SH3 domain binding|WW domain binding NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.19) CCCCCTAAAGGAAGGGGTCCA 0.458000 22 67 0 0 0.000295444 0 0 PTEN 5728 broad.mit.edu 37 10 89720741 89720741 + Nonsense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr10:89720741C>T ENST00000371953.3 + 8 2249 c.892C>T c.(892-894)Caa>Taa p.Q298* PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 298 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.Q298*(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Q298fs*9(1)|p.W274_F341del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TCTATGTGATCAAGAAATCGA 0.323000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 18 17 0 0 0.00074312 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603401 140603401 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr5:140603401G>A ENST00000239449.4 + 1 324 c.324G>A c.(322-324)gtG>gtA p.V108V PCDHB14_ENST00000515856.2_Intron NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 108 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTTTCAGGTGGTTTTGGAAA 0.428000 37 42 0 0 0.000953801 0 0 PPT2 9374 broad.mit.edu 37 6 32130605 32130605 + Missense_Mutation SNP G G T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:32130605G>T ENST00000324816.6 + 9 1355 c.787G>T c.(787-789)Ggg>Tgg p.G263W PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000375143.2_Missense_Mutation_p.G263W|PPT2_ENST00000395523.1_Missense_Mutation_p.G263W|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000361568.2_Missense_Mutation_p.G269W|PPT2_ENST00000445576.2_Intron|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375137.2_Missense_Mutation_p.G263W Q9UMR5 PPT2_HUMAN palmitoyl-protein thioesterase 2 263 protein modification process lysosome palmitoyl-(protein) hydrolase activity p.G269W(2) NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 17 GGATTCTTTTGGGTTGAAGAC 0.542000 11 593 0.000151284 0.0016207 0.000151284 1 0 DIDO1 11083 broad.mit.edu 37 20 61538515 61538515 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr20:61538515G>A ENST00000266070.4 - 5 1683 c.1358C>T c.(1357-1359)cCg>cTg p.P453L DIDO1_ENST00000370366.1_Missense_Mutation_p.P453L|DIDO1_ENST00000395343.1_Missense_Mutation_p.P453L|DIDO1_ENST00000354665.4_Missense_Mutation_p.P453L|DIDO1_ENST00000395335.2_Missense_Mutation_p.P453L|DIDO1_ENST00000395340.1_Missense_Mutation_p.P453L|DIDO1_ENST00000370368.1_Missense_Mutation_p.P453L|DIDO1_ENST00000370371.4_Missense_Mutation_p.P453L|DIDO1_ENST00000266071.5_Missense_Mutation_p.P453L NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 453 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.P453L(1) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACCGCATTTCGGAAGACTGGG 0.527000 41 112 0 0 0.000589545 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37947294 37947294 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:37947294G>A ENST00000373087.6 + 4 792 c.676G>A c.(676-678)Gac>Aac p.D226N NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 226 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GTGCTATGACGACAGATTCAT 0.577000 24 49 0 0 0.000720815 0 0 HYDIN 54768 broad.mit.edu 37 16 71163551 71163551 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:71163551C>T ENST00000393567.2 - 9 1369 c.1219G>A c.(1219-1221)Gag>Aag p.E407K HYDIN_ENST00000448089.2_Missense_Mutation_p.E407K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E407K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E407K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E424K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E434K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E407K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E424K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 407 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ACCAGGGGCTCCACAGTGAAA 0.488000 6 8 0 0 0.000157383 0 0 CPT1A 1374 broad.mit.edu 37 11 68542866 68542866 + Missense_Mutation SNP T T C rs80356791 TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:68542866T>C ENST00000265641.5 - 13 1647 c.1493A>G c.(1492-1494)tAt>tGt p.Y498C CPT1A_ENST00000376618.2_Missense_Mutation_p.Y498C|CPT1A_ENST00000540367.1_Missense_Mutation_p.Y498C|CPT1A_ENST00000539743.1_Missense_Mutation_p.Y498C NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 498 Y -> C (in CPT1AD; decreased activity). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) ATCCTCCGCATAGCCCAGCTG 0.473000 21 44 0 0 0.00047179 0 0 GCKR 2646 broad.mit.edu 37 2 27728604 27728604 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:27728604C>T ENST00000264717.2 + 10 833 c.770C>T c.(769-771)tCc>tTc p.S257F GCKR_ENST00000424318.2_Missense_Mutation_p.S67F NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 257 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) CTCAGCGGCTCCTCCCGGATG 0.552000 17 28 0 0 0.000566183 0 0 UGT1A9 54600 broad.mit.edu 37 2 234581071 234581071 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:234581071C>T ENST00000354728.4 + 1 573 c.491C>T c.(490-492)cCc>cTc p.P164L UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_021027.2 NP_066307.1 breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) TTCTCCCTCCCCTCCGTGGTC 0.433000 43 131 0 0 0.000680045 0 0 ADAR 103 broad.mit.edu 37 1 154569430 154569430 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:154569430G>A ENST00000368474.4 - 6 2320 c.2121C>T c.(2119-2121)tcC>tcT p.S707S ADAR_ENST00000368471.3_Silent_p.S412S|ADAR_ENST00000292205.5_Silent_p.S750S NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 707 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TGGGCATCATGGATTCCAAGT 0.493000 13 51 0 0 0.000308642 0 0 SPHK2 56848 broad.mit.edu 37 19 49131265 49131265 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:49131265G>A ENST00000443164.1 + 3 1586 c.881G>A c.(880-882)gGg>gAg p.G294E SPHK2_ENST00000340932.3_Missense_Mutation_p.G196E|SPHK2_ENST00000599029.1_Missense_Mutation_p.G196E|SPHK2_ENST00000600537.1_Missense_Mutation_p.G173E|SPHK2_ENST00000598088.1_Missense_Mutation_p.G232E|SPHK2_ENST00000245222.4_Missense_Mutation_p.G232E|SPHK2_ENST00000599748.1_Missense_Mutation_p.G196E|SPHK2_ENST00000601712.1_Missense_Mutation_p.G196E Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 232 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CTGGTCCAGGGGCTGAGCCTG 0.662000 14 30 0 0 0.000219431 0 0 CATSPERB 79820 broad.mit.edu 37 14 92136232 92136232 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:92136232G>A ENST00000256343.3 - 14 1369 c.1213C>T c.(1213-1215)Cct>Tct p.P405S NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 405 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AATGATGAAGGAAACCGAAAA 0.413000 10 25 0 0 0.000673444 0 0 FZD8 8325 broad.mit.edu 37 10 35928630 35928630 + Missense_Mutation SNP G G T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr10:35928630G>T ENST00000374694.1 - 1 1732 c.1728C>A c.(1726-1728)gaC>gaA p.D576E NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 576 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 TGCGTGCCTGGTCGGGCTGCA 0.682000 11 14 1.61879e-10 1.76324e-09 0.00010058 1 0 RPL5 6125 broad.mit.edu 37 1 93300417 93300417 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:93300417G>A ENST00000370321.3 + 4 361 c.271G>A c.(271-273)Ggc>Agc p.G91S NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 91 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) TGTGAAGGTTGGCCTGACAAA 0.448000 30 78 0 0 0.000184323 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45459181 45459181 + RNA SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:45459181C>T ENST00000548424.1 + 0 448 TCACTTTGCTCTGCACCTCAA 0.557000 6 3 0 0 3.59834e-05 0 0 MAN2A2 4122 broad.mit.edu 37 15 91455395 91455395 + Silent SNP C C T rs138366479 byFrequency TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr15:91455395C>T ENST00000360468.3 + 14 2250 c.2232C>T c.(2230-2232)tcC>tcT p.S744S MAN2A2_ENST00000431652.2_Silent_p.S252S|MAN2A2_ENST00000559717.1_Silent_p.S744S NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 744 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GGCAGCTGTCCGTCAGCAGGC 0.647000 76 165 0 0 0.000781405 0 0 SLC7A6 9057 broad.mit.edu 37 16 68308840 68308840 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:68308840C>T ENST00000566454.1 + 4 480 c.211C>T c.(211-213)Ctg>Ttg p.L71L SLC7A6_ENST00000219343.6_Silent_p.L71L NM_001076785.2 NP_001070253.1 Q92536 YLAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 71 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) CAAGGGTGTGCTGGTACACAC 0.552000 18 54 0 0 0.00074312 0 0 CD177 57126 broad.mit.edu 37 19 43857896 43857896 + RNA SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:43857896G>A ENST00000378009.4 + 0 72 CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) TGGCCCTCCTGGGGTTCATCC 0.557000 35 54 0 0 0.000228196 0 0 RPL5 6125 broad.mit.edu 37 1 93300418 93300418 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:93300418G>A ENST00000370321.3 + 4 362 c.272G>A c.(271-273)gGc>gAc p.G91D NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 91 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) GTGAAGGTTGGCCTGACAAAT 0.453000 29 78 0 0 0.000147802 0 0 NUTM1 256646 broad.mit.edu 37 15 34648407 34648407 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr15:34648407C>T ENST00000537011.1 + 8 2580 c.2198C>T c.(2197-2199)cCt>cTt p.P733L NUTM1_ENST00000333756.4_Missense_Mutation_p.P705L|NUTM1_ENST00000438749.3_Missense_Mutation_p.P723L NUT midline carcinoma, family member 1 GATCAGAATCCTTCCCCTAGA 0.562000 14 23 0 0 0.000151284 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1817363 1817363 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:1817363C>T ENST00000518288.1 + 8 864 c.701C>T c.(700-702)cCa>cTa p.P234L ARHGEF10_ENST00000520359.1_Missense_Mutation_p.P210L|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.P234L|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.P234L|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.P209L|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.P234L O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 234 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 kinesin binding|Rho guanyl-nucleotide exchange factor activity 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) ATTGCAGATCCAGAGGAAGCA 0.423000 20 47 0 0 0.000229342 0 0 IFT57 55081 broad.mit.edu 37 3 107885815 107885815 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:107885815G>A ENST00000264538.3 - 8 1114 c.867C>T c.(865-867)ctC>ctT p.L289L IFT57_ENST00000468021.1_5'UTR NM_018010.3 NP_060480.1 Q9NWB7 IFT57_HUMAN intraflagellar transport 57 homolog (Chlamydomonas) 289 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) TTTCATTATGGAGTTTGTCCA 0.338000 16 19 0 0 0.000229342 0 0 STAT3 6774 broad.mit.edu 37 17 40498617 40498617 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:40498617G>A ENST00000264657.5 - 3 555 c.243C>T c.(241-243)caC>caT p.H81H STAT3_ENST00000588969.1_Silent_p.H81H|STAT3_ENST00000585517.1_Silent_p.H81H|STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000404395.3_Silent_p.H81H NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 81 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TTCGTAGATTGTGCTGATAGA 0.458000 Hyperimmunoglobulin E Recurrent Infection Syndrome 70 147 0 0 0.000781405 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43770369 43770369 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:43770369G>A ENST00000389420.3 - 33 5082 c.5083C>T c.(5083-5085)Cat>Tat p.H1695Y NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1695 TSP type-1 15. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GGTTTTAAATGGTTTAAACAT 0.343000 18 24 0 0 0.000566183 0 0 BAI1 575 broad.mit.edu 37 8 143563057 143563057 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:143563057C>T ENST00000517894.1 + 11 3009 c.2115C>T c.(2113-2115)acC>acT p.T705T BAI1_ENST00000323289.5_Silent_p.T705T O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 705 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) ACAGCCCCACCCCTGGGGACG 0.602000 5 4 0 0 3.59834e-05 0 0 POM121L12 285877 broad.mit.edu 37 7 53103787 53103787 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr7:53103787C>T ENST00000408890.4 + 1 439 c.423C>T c.(421-423)atC>atT p.I141I NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 141 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCATCGGGATCGCGCCCCCTG 0.716000 7 17 0 0 0.000274275 0 0 HIST1H4J 8363 broad.mit.edu 37 6 27792209 27792209 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:27792209G>A ENST00000355057.1 + 1 326 c.307G>A c.(307-309)Ggt>Agt p.G103S NM_021968.3 NP_068803.1 P62805 H4_HUMAN histone cluster 1, H4j 103 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(2)|ovary(1)|pancreas(1) 4 CGGTTTCGGTGGTTGAGCGTC 0.567000 11 17 0 0 0.000175454 0 0 ANKMY1 51281 broad.mit.edu 37 2 241448822 241448822 + Silent SNP G G A rs140218422 TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:241448822G>A ENST00000391987.1 - 12 2436 c.2070C>T c.(2068-2070)aaC>aaT p.N690N ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Silent_p.N460N|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Silent_p.N779N|ANKMY1_ENST00000406958.1_Silent_p.N451N|ANKMY1_ENST00000272972.3_Silent_p.N690N Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 690 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TCCACAGCAGGTTAGGATTTG 0.567000 3 6 0 0 0.000602214 0 0 NOVA1 4857 broad.mit.edu 37 14 26917991 26917991 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:26917991G>A ENST00000539517.2 - 5 1015 c.698C>T c.(697-699)gCt>gTt p.A233V NOVA1_ENST00000465357.2_Missense_Mutation_p.A209V|NOVA1_ENST00000267422.7_Missense_Mutation_p.A111V NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 236 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) AAGTTCAACAGCTTTTCGGTT 0.468000 28 58 0 0 0.000878237 0 0 ABCG4 64137 broad.mit.edu 37 11 119024766 119024766 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:119024766G>A ENST00000307417.3 + 3 633 c.269G>A c.(268-270)gGt>gAt p.G90D ABCG4_ENST00000449422.2_Missense_Mutation_p.G90D|ABCG4_ENST00000531739.1_Missense_Mutation_p.G90D NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 90 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TGCCTCTCAGGTAAATTCTGC 0.512000 42 84 0 0 0.000781405 0 0 GPC6 10082 broad.mit.edu 37 13 94197591 94197591 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr13:94197591G>A ENST00000377047.4 + 2 851 c.236G>A c.(235-237)aGc>aAc p.S79N NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 79 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.S79N(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) AGCCAACAAAGCAAACTCGAA 0.408000 19 50 0 0 0.000958276 0 0 MTERFD1 51001 broad.mit.edu 37 8 97258595 97258595 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:97258595C>T ENST00000523821.1 - 5 884 c.765G>A c.(763-765)gtG>gtA p.V255V MTERFD1_ENST00000524341.1_Silent_p.V65V|MTERFD1_ENST00000522822.1_Silent_p.V134V|MTERFD1_ENST00000287025.3_Silent_p.V255V Q96E29 MTER1_HUMAN MTERF domain containing 1 255 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) CCAGTCTTTCCACTGAAAAGT 0.358000 8 26 0 0 0.000673444 0 0 C14orf2 9556 broad.mit.edu 37 14 104381447 104381447 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:104381447C>T ENST00000553430.1 - 2 139 c.80G>A c.(79-81)gGa>gAa p.G27E C14orf2_ENST00000554880.1_Missense_Mutation_p.G27E|C14orf2_ENST00000554713.1_Missense_Mutation_p.G27E|C14orf2_ENST00000553449.1_Intron|C14orf2_ENST00000414262.2_Missense_Mutation_p.G44E|C14orf2_ENST00000286953.3_Missense_Mutation_p.G27E|C14orf2_ENST00000555030.1_Missense_Mutation_p.G27E|C14orf2_ENST00000557040.1_Missense_Mutation_p.G27E P56378 68MP_HUMAN chromosome 14 open reading frame 2 27 mitochondrion kidney(1) 1 Epithelial(152;0.223) CAGCCCCATTCCTATCCAAAT 0.373000 15 20 0 0 0.000219431 0 0 STXBP4 252983 broad.mit.edu 37 17 53237190 53237190 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:53237190C>T ENST00000376352.2 + 18 1787 c.1580C>T c.(1579-1581)cCc>cTc p.P527L STXBP4_ENST00000434978.2_Missense_Mutation_p.P505L NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 527 WW. cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 TGGATCCATCCCGTGATGAGT 0.428000 14 36 0 0 0.000219431 0 0 MMP15 4324 broad.mit.edu 37 16 58073967 58073967 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:58073967C>T ENST00000219271.3 + 4 1414 c.629C>T c.(628-630)tCg>tTg p.S210L NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 210 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 GGCGACAGCTCGCCGTTTGAT 0.627000 14 26 0 0 0.000219431 0 0 IGLV2-11 28816 broad.mit.edu 37 22 23135342 23135342 + RNA SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr22:23135342G>A ENST00000390314.2 + 0 246 CCAAACTCATGATTTATGATG 0.552000 86 182 0 0 0.000781405 0 0 SLC38A4 55089 broad.mit.edu 37 12 47173398 47173398 + Missense_Mutation SNP C C A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:47173398C>A ENST00000447411.1 - 9 919 c.713G>T c.(712-714)aGt>aTt p.S238I SLC38A4_ENST00000266579.4_Missense_Mutation_p.S238I NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 238 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) ACTTACCACACTAACAAAAAA 0.378000 45 73 5.34276e-22 5.88997e-21 0.000781405 1 0 CMTM1 113540 broad.mit.edu 37 16 66612745 66612745 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:66612745C>T ENST00000379500.2 + 4 769 c.702C>T c.(700-702)ctC>ctT p.L234L CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533953.1_Silent_p.L186L|CMTM1_ENST00000457188.2_Silent_p.L117L|CMTM1_ENST00000533666.1_Intron|CKLF-CMTM1_ENST00000527729.1_Silent_p.L63L|CMTM1_ENST00000336328.6_Silent_p.L64L|CMTM1_ENST00000328020.6_Intron|CMTM1_ENST00000332695.7_Silent_p.L70L NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 117 chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) CCCTGTGTCTCACAGCGGTAA 0.488000 15 47 0 0 0.00074312 0 0 CPAMD8 27151 broad.mit.edu 37 19 17025599 17025599 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:17025599G>A ENST00000443236.1 - 28 3826 c.3795C>T c.(3793-3795)tcC>tcT p.S1265S NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1218 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCTGTGCGAAGGACTTCAGGA 0.607000 6 14 0 0 8.12818e-05 0 0 GRHL3 57822 broad.mit.edu 37 1 24668748 24668748 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:24668748G>A ENST00000361548.4 + 9 1421 c.1191G>A c.(1189-1191)aaG>aaA p.K397K GRHL3_ENST00000236255.4_Silent_p.K402K|GRHL3_ENST00000350501.5_Silent_p.K397K|GRHL3_ENST00000356046.2_Silent_p.K351K|GRHL3_ENST00000342072.4_Silent_p.K304K NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 397 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GCCAGATCAAGATCTTCTGTG 0.587000 17 38 0 0 0.000566183 0 0 CAD 790 broad.mit.edu 37 2 27462330 27462330 + Silent SNP C C T rs115849996 by1000genomes TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:27462330C>T ENST00000264705.4 + 33 5547 c.5385C>T c.(5383-5385)atC>atT p.I1795I CAD_ENST00000403525.1_Silent_p.I1732I NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1795 Linker. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TTGCCTATATCGATGGGCAGG 0.577000 12 19 0 0 0.000308642 0 0 QPRT 23475 broad.mit.edu 37 16 29706008 29706008 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:29706008G>A ENST00000395384.4 + 2 198 c.37G>A c.(37-39)Gtc>Atc p.V13I AC009133.19_ENST00000449759.1_Missense_Mutation_p.51_51insP|QPRT_ENST00000219771.7_Intron|QPRT_ENST00000562473.1_Missense_Mutation_p.V13I NM_014298.3 NP_055113.2 Q15274 NADC_HUMAN quinolinate phosphoribosyltransferase 13 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) GCTGCCGCCCGTCACCCTGGC 0.642000 5 19 0 0 0.000602214 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37505180 37505180 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr10:37505180C>T ENST00000374660.1 + 38 3229 c.3130C>T c.(3130-3132)Cac>Tac p.H1044Y ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H925Y|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H925Y Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1047 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TCAAAAAGATCACTGTGAACA 0.328000 30 29 0 0 0.000409698 0 0 LPA 4018 broad.mit.edu 37 6 160968932 160968932 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:160968932C>T ENST00000447678.1 - 33 5313 c.5193G>A c.(5191-5193)aaG>aaA p.K1731K LPA_ENST00000316300.5_Silent_p.K1731K NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4239 Kringle 16. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGGTTGCCTTCTTGCCCCGGT 0.493000 16 55 0 0 0.000958276 0 0 PITPNM2 57605 broad.mit.edu 37 12 123472417 123472417 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:123472417G>A ENST00000280562.5 - 20 3216 c.3011C>T c.(3010-3012)gCc>gTc p.A1004V PITPNM2_ENST00000542749.1_Missense_Mutation_p.A1010V|PITPNM2_ENST00000320201.4_Missense_Mutation_p.A1010V|PITPNM2_ENST00000392428.1_Missense_Mutation_p.A731V Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 0 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) ATTGGCAAGGGCATCATTGAT 0.637000 7 16 0 0 0.000442599 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24909034 24909034 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr10:24909034C>T ENST00000396432.2 - 9 2276 c.1790G>A c.(1789-1791)aGa>aAa p.R597K ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R384K NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 596 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 CTGAAAATTTCTGTTTGACTG 0.418000 30 24 0 0 0.000227799 0 0 DNM3 26052 broad.mit.edu 37 1 172002324 172002324 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:172002324G>A ENST00000358155.4 + 6 944 c.768G>A c.(766-768)agG>agA p.R256R DNM3_ENST00000367731.1_Silent_p.R256R|DNM3_ENST00000367733.2_Silent_p.R256R|DNM3_ENST00000355305.5_Silent_p.R256R|DNM3_ENST00000520906.1_Silent_p.R256R NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 256 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TGGCAGAGAGGAAGTTTTTCC 0.468000 8 18 0 0 0.000157383 0 0 SH3BGR 6450 broad.mit.edu 37 21 40824035 40824035 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr21:40824035G>A ENST00000333634.4 + 1 280 c.202G>A c.(202-204)Gtg>Atg p.V68M SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000380631.1_Intron NM_007341.2 NP_031367.1 P55822 SH3BG_HUMAN SH3 domain binding glutamic acid-rich protein 68 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) GGTTATCAAAGTGTTTGTTGC 0.478000 43 94 0 0 0.000781405 0 0 RALGAPB 57148 broad.mit.edu 37 20 37150200 37150200 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr20:37150200C>T ENST00000262879.6 + 10 1762 c.1478C>T c.(1477-1479)aCc>aTc p.T493I RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397040.1_Missense_Mutation_p.T493I|RALGAPB_ENST00000397038.1_Missense_Mutation_p.T271I|RALGAPB_ENST00000397042.3_Missense_Mutation_p.T493I Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 493 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TCCACAGACACCATGGTTTCC 0.423000 18 48 0 0 0.000958276 0 0 UBC 7316 broad.mit.edu 37 12 125397415 125397415 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:125397415G>A ENST00000536769.1 - 1 2479 c.903C>T c.(901-903)ctC>ctT p.L301L UBC_ENST00000339647.5_Silent_p.L301L|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.L225L P0CG48 UBC_HUMAN ubiquitin C 301 Ubiquitin-like 4. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TCCCACCTCTGAGACGGAGCA 0.532000 6 92 0 0 8.12818e-05 0 0 SRPX 8406 broad.mit.edu 37 X 38037563 38037563 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chrX:38037563G>A ENST00000378533.3 - 2 238 c.132C>T c.(130-132)gtC>gtT p.V44V SRPX_ENST00000343800.6_Intron|SRPX_ENST00000544439.1_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_Silent_p.V44V|SRPX_ENST00000538295.1_Silent_p.V44V NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 44 cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 GTGAATACCCGACTTCATCGT 0.428000 15 6 0 0 0.000422831 0 0 FCGBP 8857 broad.mit.edu 37 19 40411838 40411838 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:40411838C>T ENST00000221347.6 - 7 3797 c.3790G>A c.(3790-3792)Gat>Aat p.D1264N NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1264 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CGGCGGCCATCGAAGGTGGTG 0.667000 15 17 0 0 0.000566183 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58850594 58850594 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:58850594G>A ENST00000329665.4 + 3 1525 c.1378G>A c.(1378-1380)Gga>Aga p.G460R NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 460 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GATCCACACGGGAGAGAAGCC 0.537000 14 30 0 0 0.000219431 0 0 PDE4A 5141 broad.mit.edu 37 19 10574567 10574567 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:10574567C>T ENST00000380702.2 + 15 1776 c.1776C>T c.(1774-1776)ttC>ttT p.F592F PDE4A_ENST00000352831.6_Silent_p.F614F|PDE4A_ENST00000293683.5_Silent_p.F588F|PDE4A_ENST00000440014.2_Silent_p.F553F|PDE4A_ENST00000592685.1_Silent_p.F592F|PDE4A_ENST00000344979.3_Silent_p.F375F P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 614 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) CCGAGTTCTTCCAGCAGGGTG 0.622000 22 25 0 0 0.000229342 0 0 FAM47A 158724 broad.mit.edu 37 X 34149184 34149184 + Silent SNP G G T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chrX:34149184G>T ENST00000346193.3 - 1 1263 c.1212C>A c.(1210-1212)ccC>ccA p.P404P NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 404 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CTCCAGTCTTGGGAGGCACTG 0.582000 16 10 1.96292e-10 2.13298e-09 0.000175454 1 0 TEP1 7011 broad.mit.edu 37 14 20845893 20845893 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:20845893G>A ENST00000262715.5 - 40 5781 c.5741C>T c.(5740-5742)tCt>tTt p.S1914F TEP1_ENST00000545983.1_Missense_Mutation_p.S252F|TEP1_ENST00000556935.1_Missense_Mutation_p.S1806F NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1914 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CCGACCCAGAGACCCTGACCA 0.587000 15 26 0 0 0.000422831 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971209 21971209 + Splice_Site SNP T T C TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr9:21971209T>C ENST00000579755.1 - 2 486 c.e2-2 CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CATCATGACCTGCCAGAGAGA 0.667000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 18 0 0 8.12818e-05 0 0 SEMA4F 10505 broad.mit.edu 37 2 74884745 74884745 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:74884745G>A ENST00000357877.2 + 3 500 c.351G>A c.(349-351)aaG>aaA p.K117K SEMA4F_ENST00000339773.5_Silent_p.K117K NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 117 Sema. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 AGAAAGGCAAGAAAGAGGTAG 0.488000 13 53 0 0 0.000566183 0 0 NF2 4771 broad.mit.edu 37 22 30069410 30069410 + Silent SNP G G C TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr22:30069410G>C ENST00000338641.4 + 12 1716 c.1275G>C c.(1273-1275)ctG>ctC p.L425L NF2_ENST00000403435.1_Silent_p.L396L|NF2_ENST00000334961.7_Silent_p.L342L|NF2_ENST00000347330.5_Intron|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Silent_p.L425L|NF2_ENST00000361452.4_Silent_p.L384L|NF2_ENST00000361166.4_Silent_p.L425L|NF2_ENST00000403999.3_Silent_p.L425L|NF2_ENST00000353887.4_Silent_p.L342L|NF2_ENST00000361676.4_Silent_p.L383L NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 425 Glu-rich. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 AGAAGCGCCTGATGGAGCAGA 0.627000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 11 15 0 0 0.00010058 0 0 SELV 348303 broad.mit.edu 37 19 40009764 40009764 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:40009764C>T ENST00000423711.1 + 6 1117 c.1017C>T c.(1015-1017)atC>atT p.I339I SELV_ENST00000335426.4_Silent_p.I339I P59797 SELV_HUMAN 339 cell redox homeostasis selenium binding breast(1)|endometrium(1)|lung(3)|prostate(1) 6 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGAGCGTTATCGATGAGGAAA 0.602000 12 25 0 0 6.40141e-05 0 0 ZNF423 23090 broad.mit.edu 37 16 49764708 49764708 + Missense_Mutation SNP T T G TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:49764708T>G ENST00000561648.1 - 3 304 c.251A>C c.(250-252)gAc>gCc p.D84A ZNF423_ENST00000562871.1_Missense_Mutation_p.D24A|ZNF423_ENST00000562520.1_Missense_Mutation_p.D24A|ZNF423_ENST00000262383.2_Missense_Mutation_p.D84A|ZNF423_ENST00000563137.2_Missense_Mutation_p.D24A NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 84 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GGCCCGGTGGTCCGTCAGGTC 0.527000 5 59 0 0 8.12818e-05 0 0 RPL18 6141 broad.mit.edu 37 19 49120029 49120029 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr19:49120029C>T ENST00000549273.1 - 4 284 c.251G>A c.(250-252)gGg>gAg p.G84E RPL18_ENST00000550645.1_Missense_Mutation_p.G84E|RPL18_ENST00000552588.1_Missense_Mutation_p.G55E|RPL18_ENST00000549920.1_Missense_Mutation_p.G84E Q07020 RL18_HUMAN ribosomal protein L18 84 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome cervix(1)|kidney(2) 3 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154) AGTTATGGTCCCCACAACCAC 0.552000 25 46 0 0 0.000227799 0 0 MYF6 4618 broad.mit.edu 37 12 81101933 81101933 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:81101933G>A ENST00000228641.3 + 1 657 c.435G>A c.(433-435)caG>caA p.Q145Q NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 145 Helix-loop-helix motif. 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 AGCGGCTGCAGGACCTGCTGC 0.587000 15 33 0 0 0.000566183 0 0 TEX15 56154 broad.mit.edu 37 8 30694961 30694961 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:30694961G>A ENST00000256246.2 - 3 7764 c.7690C>T c.(7690-7692)Cct>Tct p.P2564S NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2564 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TGCAGAGTAGGAATTTTGTTC 0.363000 22 50 0 0 0.00047179 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145830936 145830936 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:145830936G>A ENST00000276826.5 - 1 265 c.64C>T c.(64-66)Cca>Tca p.P22S ARHGAP39_ENST00000377307.2_Missense_Mutation_p.P22S|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.P22S Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 22 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TTCGACCCTGGAATCCTCGAC 0.612000 11 23 0 0 0.000308642 0 0 ABCB9 23457 broad.mit.edu 37 12 123430577 123430577 + Missense_Mutation SNP T T A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:123430577T>A ENST00000542678.1 - 6 4084 c.1246A>T c.(1246-1248)Agc>Tgc p.S416C ABCB9_ENST00000442028.2_Missense_Mutation_p.S416C|ABCB9_ENST00000392439.3_Missense_Mutation_p.S416C|ABCB9_ENST00000280560.8_Missense_Mutation_p.S416C|ABCB9_ENST00000540285.1_Missense_Mutation_p.S416C|ABCB9_ENST00000344275.7_Missense_Mutation_p.S416C|ABCB9_ENST00000442833.2_Missense_Mutation_p.S416C|ABCB9_ENST00000346530.5_Missense_Mutation_p.S416C Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 416 ABC transmembrane type-1. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) CGTACCCCGCTGCCCCAGACG 0.597000 8 12 0 0 0.000442599 0 0 ZZZ3 26009 broad.mit.edu 37 1 78098794 78098794 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:78098794G>A ENST00000370801.3 - 5 721 c.246C>T c.(244-246)agC>agT p.S82S ZZZ3_ENST00000370798.1_Intron NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 82 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 TTTTCCTAGGGCTTACCCATG 0.413000 62 113 0 0 0.000781405 0 0 LRRC43 254050 broad.mit.edu 37 12 122685132 122685132 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr12:122685132G>A ENST00000339777.4 + 9 1573 c.1545G>A c.(1543-1545)aaG>aaA p.K515K LRRC43_ENST00000425921.1_Silent_p.K330K NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 515 Lys-rich. NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TGTCTGCCaagaaaggaaagg 0.592000 40 65 0 0 0.000589545 0 0 NDST3 9348 broad.mit.edu 37 4 118975378 118975378 + Nonsense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:118975378C>T ENST00000296499.5 + 2 716 c.313C>T c.(313-315)Cag>Tag p.Q105* NDST3_ENST00000433996.2_Nonsense_Mutation_p.Q105* NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 105 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 AAGTAGATTCCAGTATCACAT 0.378000 14 32 0 0 0.000219431 0 0 TRIM42 287015 broad.mit.edu 37 3 140397412 140397412 + Splice_Site SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:140397412C>T ENST00000286349.3 + 1 532 c.341_splice c.e1+1 p.S114_splice NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 114 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ATCCATACCTCGTAAGTGCCA 0.562000 8 10 0 0 0.000157383 0 0 ENPEP 2028 broad.mit.edu 37 4 111409721 111409721 + Silent SNP A A G TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:111409721A>G ENST00000265162.5 + 2 1011 c.669A>G c.(667-669)gaA>gaG p.E223E NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 223 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CCGATCATGAACCAACAGATG 0.423000 4 9 0 0 0.00024832 0 0 AFF1 4299 broad.mit.edu 37 4 87968195 87968195 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:87968195C>T ENST00000307808.6 + 3 907 c.487C>T c.(487-489)Cgc>Tgc p.R163C AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.R170C NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 163 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) GACCCAGGATCGCCTTGGTCA 0.572000 23 39 0 0 0.000295444 0 0 OR11L1 391189 broad.mit.edu 37 1 248004339 248004339 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:248004339G>A ENST00000355784.2 - 1 915 c.860C>T c.(859-861)cCa>cTa p.P287L NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTAGATAACTGGGTTCAGCAG 0.428000 11 31 0 0 6.40141e-05 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 39 0 0 8.12818e-05 0 0 ZP2 7783 broad.mit.edu 37 16 21209102 21209102 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:21209102C>T ENST00000574002.1 - 19 2562 c.2080G>A c.(2080-2082)Gag>Aag p.E694K AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.E694K|ZP2_ENST00000574091.1_Missense_Mutation_p.E685K Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 694 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) GAGCCAACCTCCTCCCCTGTT 0.468000 26 91 0 0 0.000279167 0 0 ABLIM1 3983 broad.mit.edu 37 10 116213208 116213208 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr10:116213208G>A ENST00000369252.4 - 13 1597 c.1296C>T c.(1294-1296)ctC>ctT p.L432L ABLIM1_ENST00000369253.2_Intron|ABLIM1_ENST00000392952.3_Intron|ABLIM1_ENST00000369266.3_Intron|ABLIM1_ENST00000533213.2_Silent_p.L432L|ABLIM1_ENST00000277895.5_Silent_p.L492L NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 492 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GCCGGTAAGGGAGAGGGGAGT 0.507000 12 13 0 0 0.000308642 0 0 SYNE1 23345 broad.mit.edu 37 6 152652462 152652462 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:152652462G>A ENST00000367255.5 - 78 13959 c.13358C>T c.(13357-13359)tCc>tTc p.S4453F SYNE1_ENST00000265368.4_Missense_Mutation_p.S4453F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4382F|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4382F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4453 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding 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) GGTTTTCTCGGACAAGGCTTT 0.478000 HNSCC(10;0.0054) 10 37 0 0 0.00010058 0 0 TNIP3 79931 broad.mit.edu 37 4 122062995 122062995 + Silent SNP A A T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr4:122062995A>T ENST00000454328.1 - 11 1088 c.861T>A c.(859-861)gcT>gcA p.A287A TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000057513.3_Silent_p.A287A|TNIP3_ENST00000507879.1_Silent_p.A357A|TNIP3_ENST00000509841.1_Silent_p.A364A Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 287 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 GCTTCTGCACAGCTCCAGGGC 0.473000 15 28 0 0 0.000566183 0 0 FRG1B 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 7 70 0 0 8.12818e-05 0 0 HEATR6 63897 broad.mit.edu 37 17 58134511 58134511 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:58134511G>A ENST00000184956.6 - 12 1993 c.1977C>T c.(1975-1977)tcC>tcT p.S659S HEATR6_ENST00000585976.1_Silent_p.S659S NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 659 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) GTACGACAATGGAAATGCAGA 0.562000 24 61 0 0 0.000147802 0 0 OR51B4 79339 broad.mit.edu 37 11 5322817 5322817 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:5322817G>A ENST00000380224.1 - 1 409 c.360C>T c.(358-360)ttC>ttT p.F120F HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGATGGCAATGAAACAGTCAT 0.458000 32 54 0 0 0.000279167 0 0 LRCH3 84859 broad.mit.edu 37 3 197518308 197518308 + Silent SNP G G A rs139995375 TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr3:197518308G>A ENST00000438796.2 + 1 203 c.159G>A c.(157-159)ctG>ctA p.L53L LRCH3_ENST00000334859.4_Silent_p.L53L|LRCH3_ENST00000414675.2_Silent_p.L53L|LRCH3_ENST00000425562.2_Silent_p.L53L|LRCH3_ENST00000441090.2_Silent_p.L53L Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 53 extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) ATCGAGCCCTGGAGGAGGCGG 0.701000 3 4 0 0 6.4e-05 0 0 MUC17 140453 broad.mit.edu 37 7 100687012 100687012 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr7:100687012C>T ENST00000306151.4 + 3 12379 c.12315C>T c.(12313-12315)ttC>ttT p.F4105F NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4105 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCACTTCCTTCCCCACGGTGA 0.542000 15 39 0 0 0.000219431 0 0 DNAH9 1770 broad.mit.edu 37 17 11593108 11593108 + Silent SNP C C A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr17:11593108C>A ENST00000262442.3 + 20 4037 c.3969C>A c.(3967-3969)ccC>ccA p.P1323P DNAH9_ENST00000454412.2_Silent_p.P1323P NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1323 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGACCACACCCTGGAGGAATA 0.567000 9 15 2.17888e-05 0.000234525 0.000442599 1 0 CRYBB2 1415 broad.mit.edu 37 22 25625521 25625521 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr22:25625521C>T ENST00000398215.2 + 5 596 c.425C>T c.(424-426)tCa>tTa p.S142L NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 142 Beta/gamma crystallin 'Greek key' 3. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 GAGAAGGTGTCATCTGTGCGG 0.562000 6 17 0 0 8.12818e-05 0 0 PLXNA3 55558 broad.mit.edu 37 X 153692583 153692583 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chrX:153692583C>T ENST00000369682.3 + 8 1930 c.1755C>T c.(1753-1755)gtC>gtT p.V585V NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 585 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACGAGGCGGTCCTGCTGCCCT 0.687000 3 3 0 0 0.00024832 0 0 APBB3 10307 broad.mit.edu 37 5 139941689 139941689 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr5:139941689C>T ENST00000357560.4 - 6 1065 c.622G>A c.(622-624)Ggc>Agc p.G208S APBB3_ENST00000412920.3_Missense_Mutation_p.G208S|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000511201.2_Missense_Mutation_p.G208S|APBB3_ENST00000356738.2_Missense_Mutation_p.G208S|APBB3_ENST00000358580.5_Missense_Mutation_p.G208S|APBB3_ENST00000354402.5_Missense_Mutation_p.G208S NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 208 PID 1. actin cytoskeleton|cytoplasm endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCACCGGCCCTTGGAGCTC 0.602000 10 15 0 0 0.000673444 0 0 KIF6 221458 broad.mit.edu 37 6 39328221 39328221 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr6:39328221G>A ENST00000287152.7 - 18 2126 c.2032C>T c.(2032-2034)Cta>Tta p.L678L KIF6_ENST00000229913.5_Silent_p.L129L|KIF6_ENST00000394362.1_Silent_p.L129L|KIF6_ENST00000538893.1_Silent_p.L622L|KIF6_ENST00000373216.3_Silent_p.L678L|KIF6_ENST00000541946.1_Silent_p.L129L|KIF6_ENST00000373215.3_Silent_p.L661L|KIF6_ENST00000373213.4_Silent_p.L517L NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 678 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TCTTTCTGTAGCTTCACCTTG 0.557000 16 36 0 0 0.000132079 0 0 APCDD1L 164284 broad.mit.edu 37 20 57036316 57036316 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr20:57036316G>A ENST00000371149.3 - 4 1266 c.1036C>T c.(1036-1038)Cgc>Tgc p.R346C APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.R357C NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 346 integral to membrane p.R346C(1) large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) GTGCCGCCGCGGACCCTGGTG 0.652000 9 17 0 0 0.000673444 0 0 PTGER2 5732 broad.mit.edu 37 14 52782085 52782085 + Silent SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:52782085C>T ENST00000245457.5 + 1 973 c.819C>T c.(817-819)ttC>ttT p.F273F PTGER2_ENST00000557436.1_Silent_p.F18F NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 273 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) CCATCACCTTCGCCGTCTGCT 0.637000 13 15 0 0 0.000422831 0 0 ALPK3 57538 broad.mit.edu 37 15 85401310 85401310 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr15:85401310G>A ENST00000258888.5 + 6 4114 c.3947G>A c.(3946-3948)cGa>cAa p.R1316Q NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1316 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) ATGGCTGGTCGACTGGGGGAG 0.682000 4 6 0 0 0.000602214 0 0 TENM4 26011 broad.mit.edu 37 11 78413362 78413362 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr11:78413362G>A ENST00000278550.7 - 28 4758 c.4296C>T c.(4294-4296)atC>atT p.I1432I NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GGTTTTCAGAGATTTGCAGGA 0.542000 26 56 0 0 0.000878237 0 0 PPP3R2 5535 broad.mit.edu 37 9 104357001 104357001 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr9:104357001C>T ENST00000374806.1 - 1 282 c.212G>A c.(211-213)gGa>gAa p.G71E GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 68 EF-hand 2. calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) GTCCACTTCTCCATCACCGTC 0.577000 20 48 0 0 0.000175454 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119936867 119936867 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr8:119936867C>T ENST00000297350.4 - 5 1330 c.952G>A c.(952-954)Gca>Aca p.A318T NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 318 Death 2. apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) GGTTTGCATGCCTTTATTGTT 0.468000 19 61 0 0 0.000958276 0 0 FIGNL1 63979 broad.mit.edu 37 7 50513686 50513686 + Missense_Mutation SNP G G T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr7:50513686G>T ENST00000419119.1 - 2 2853 c.1300C>A c.(1300-1302)Cct>Act p.P434T FIGNL1_ENST00000433017.1_Missense_Mutation_p.P434T|FIGNL1_ENST00000356889.4_Missense_Mutation_p.P434T|FIGNL1_ENST00000395556.2_Missense_Mutation_p.P434T Q6PIW4 FIGL1_HUMAN fidgetin-like 1 434 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity p.P434T(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) ATTCCTTTAGGGGGTCCCCTT 0.453000 26 40 4.72057e-08 5.10517e-07 0.000586117 1 0 NOTCH1 4851 broad.mit.edu 37 9 139417600 139417600 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr9:139417600G>A ENST00000277541.6 - 4 519 c.444C>T c.(442-444)ccC>ccT p.P148P NOTCH1_ENST00000491649.1_5'UTR NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 148 EGF-like 4. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGTTGGCGCAGGGGTTGGAGG 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 3 6 0 0 0.00024832 0 0 MROH7 374977 broad.mit.edu 37 1 55119323 55119323 + Missense_Mutation SNP C C T TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr1:55119323C>T ENST00000414150.2 + 3 1002 c.724C>T c.(724-726)Cca>Tca p.P242S MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.P242S|MROH7_ENST00000421030.2_Missense_Mutation_p.P242S|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.P242S maestro heat-like repeat family member 7 GACCCTAATCCCAGACACAAA 0.453000 15 27 0 0 0.000308642 0 0 TRAV22 28661 broad.mit.edu 37 14 22539370 22539370 + RNA SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:22539370G>A ENST00000390450.3 + 0 363 AAACAGAATGGAAGATTAAGC 0.453000 10 29 0 0 0.000673444 0 0 NID2 22795 broad.mit.edu 37 14 52507555 52507555 + Missense_Mutation SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr14:52507555G>A ENST00000216286.5 - 8 1839 c.1840C>T c.(1840-1842)Cat>Tat p.H614Y NID2_ENST00000541773.1_Missense_Mutation_p.H561Y NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 614 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TCCATGTCATGGGTAAAGGCA 0.463000 24 43 0 0 0.00047179 0 0 CALCRL 10203 broad.mit.edu 37 2 188225352 188225355 + Frame_Shift_Del DEL AATG AATG - TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr2:188225352_188225355delAATG ENST00000409998.1 - 11 1532_1535 c.751_754delCATT c.(751-756)tafs p.HL251fs CALCRL_ENST00000410068.1_Frame_Shift_Del_p.HL251fs|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Frame_Shift_Del_p.HL251fs|AC007319.1_ENST00000453517.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 251 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TACCACATTAAATGTTGCTTCTCT 0.402 10 28 --- --- --- --- SNX29P2 440352 broad.mit.edu 37 16 29372348 29372348 + RNA DEL T T - TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c6c3ded-64da-4552-9e28-c382c65a6a65 faccfbfa-d66c-4aea-8b40-df03dbff8837 g.chr16:29372348delT ENST00000398878.3 + 0 1186 SNX29P2_ENST00000507381.1_RNA TGGGAGGttgttttttttttt 0.478 2 4 --- --- --- ---