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 RBAK 57786 broad.mit.edu 37 7 5097370 5097370 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr7:5097370G>A ENST00000396912.1 + 4 717 c.198G>A c.(196-198)ccG>ccA p.P66P RBAK_ENST00000353796.3_Silent_p.P66P|RBAK_ENST00000407184.1_Silent_p.P66P|RBAK_ENST00000396904.2_Silent_p.P66P NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 66 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) GAGAGGAGCCGTGGATAATGG 0.453000 19 94 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12265567 12265567 + Missense_Mutation SNP C C A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:12265567C>A ENST00000256194.4 + 21 2980 c.2692C>A c.(2692-2694)Cat>Aat p.H898N MICAL2_ENST00000342902.5_Missense_Mutation_p.H898N|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 898 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) GTCTCATACTCATCCTCCATC 0.473000 25 166 3.01185e-09 3.16032e-09 1 1 0 CDH9 1007 broad.mit.edu 37 5 26885757 26885757 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:26885757G>A ENST00000231021.4 - 11 2020 c.1848C>T c.(1846-1848)ctC>ctT p.L616L NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 616 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GAATCGCAACGAGAGCTCCCG 0.512000 12 22 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161302579 161302579 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:161302579G>A ENST00000428797.2 + 7 845 c.490G>A c.(490-492)Gct>Act p.A164T GABRA1_ENST00000437025.2_Missense_Mutation_p.A164T|GABRA1_ENST00000444819.1_Missense_Mutation_p.A164T|GABRA1_ENST00000023897.6_Missense_Mutation_p.A164T|GABRA1_ENST00000420560.1_Missense_Mutation_p.A164T|GABRA1_ENST00000393943.4_Missense_Mutation_p.A164T NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 164 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GACAGTGAGAGCTGAATGTCC 0.373000 13 62 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026288 129026288 + Silent SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr2:129026288C>T ENST00000259241.6 - 2 697 c.684G>A c.(682-684)acG>acA p.T228T NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 228 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) CCGACCAGTCCGTGCCCTCGT 0.662000 5 67 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644779 53644779 + Silent SNP G G A rs77716783 byFrequency TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr19:53644779G>A ENST00000452676.2 - 5 1731 c.1305C>T c.(1303-1305)tgC>tgT p.C435C ZNF347_ENST00000334197.7_Silent_p.C434C|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.C435C NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AGGCTTTGCCGCACTCATTAC 0.423000 48 87 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47101692 47101692 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:47101692G>A ENST00000377107.2 + 10 1745 c.1391G>A c.(1390-1392)cGc>cAc p.R464H USP11_ENST00000218348.3_Missense_Mutation_p.R507H P51784 UBP11_HUMAN ubiquitin specific peptidase 11 507 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 GATCCGCGCCGCAAGCCAGAG 0.542000 13 39 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117715330 117715330 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr6:117715330C>T ENST00000368508.3 - 10 1357 c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K ROS1_ENST00000368507.3_Missense_Mutation_p.E396K|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 387 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CTAACCAGTTCATCCATGATG 0.328000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 3 32 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971000 21971000 + Nonsense_Mutation SNP C C A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:21971000C>A ENST00000304494.5 - 2 628 c.358G>T c.(358-360)Gag>Tag p.E120* CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 120 E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma). 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.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(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) TGGCCCAGCTCCTCAGCCAGG 0.726000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 18 22 3.41278e-10 3.60642e-10 1 1 0 ZNF860 344787 broad.mit.edu 37 3 32031962 32031962 + Missense_Mutation SNP A A G rs1808125 by1000genomes TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr3:32031962A>G ENST00000360311.4 + 2 1940 c.1391A>G c.(1390-1392)cAt>cGt p.H464R NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCATCACAATTCA 0.418000 4 58 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113728844 113728844 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr13:113728844G>A ENST00000397030.1 + 10 1219 c.1182G>A c.(1180-1182)ctG>ctA p.L394L MCF2L_ENST00000442652.2_Silent_p.L391L|MCF2L_ENST00000375608.3_Silent_p.L391L|MCF2L_ENST00000423482.2_Silent_p.L359L|MCF2L_ENST00000375604.2_Silent_p.L418L|MCF2L_ENST00000375601.3_Silent_p.L365L|MCF2L_ENST00000535094.2_Silent_p.L361L|MCF2L_ENST00000375597.4_Silent_p.L359L|MCF2L_ENST00000434480.2_Silent_p.L367L|MCF2L_ENST00000421756.1_Silent_p.L365L O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 391 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) AGCACCTGCTGAGGGACCTGG 0.617000 8 60 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821173 5821173 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:5821173C>T ENST00000381095.3 - 5 2173 c.1546G>A c.(1546-1548)Gac>Aac p.D516N NLGN4X_ENST00000538097.1_Missense_Mutation_p.D516N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D516N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D536N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D516N NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 516 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AGCATGACGTCGTTCTTGGAA 0.537000 37 101 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144828615 144828615 + Missense_Mutation SNP C C A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:144828615C>A ENST00000338347.4 + 14 1661 c.1661C>A c.(1660-1662)cCg>cAg p.P554Q NBPF9_ENST00000281815.8_Missense_Mutation_p.P152Q|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 TATTCTACTCCGTCAATGTAC 0.453000 18 247 4.96729e-08 5.17571e-08 1 1 0 KDM5A 5927 broad.mit.edu 37 12 406330 406330 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:406330G>A ENST00000399788.2 - 25 4473 c.4111C>T c.(4111-4113)Ccc>Tcc p.P1371S KDM5A_ENST00000382815.4_Missense_Mutation_p.P1371S NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1371 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 AAAAGATTGGGTTCAAGACTA 0.413000 T NUP98 AML 24 25 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 6 88 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47864939 47864939 + Missense_Mutation SNP G G C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr20:47864939G>C ENST00000396105.1 - 14 4868 c.4622C>G c.(4621-4623)aCt>aGt p.T1541S ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.T1541S NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1541 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TAGCAGCTTAGTACAAGGCAC 0.572000 61 83 0 0 1 0 0 ITGB1 3688 broad.mit.edu 37 10 33208820 33208820 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr10:33208820C>T ENST00000396033.2 - 11 1597 c.1462G>A c.(1462-1464)Gcg>Acg p.A488T ITGB1_ENST00000302278.3_Missense_Mutation_p.A488T|ITGB1_ENST00000423113.1_Missense_Mutation_p.A488T|ITGB1_ENST00000374956.4_Missense_Mutation_p.A488T NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 488 Cysteine-rich tandem repeats. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) TACCTGCACGCGCCACACTCA 0.453000 10 70 0 0 1 0 0 ZCCHC13 389874 broad.mit.edu 37 X 73524500 73524500 + Nonsense_Mutation SNP C C A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:73524500C>A ENST00000339534.2 + 1 476 c.399C>A c.(397-399)tgC>tgA p.C133* NM_203303.2 NP_976048.1 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 133 nucleic acid binding|zinc ion binding p.C133C(1) breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 GTTACCGATGCGGCGAGATTG 0.552000 27 67 2.48779e-11 2.66677e-11 1 1 0 DICER1 23405 broad.mit.edu 37 14 95570037 95570037 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr14:95570037G>A ENST00000526495.1 - 23 3987 c.3696C>T c.(3694-3696)agC>agT p.S1232S DICER1_ENST00000343455.3_Silent_p.S1232S|DICER1_ENST00000556045.1_Silent_p.S130S|DICER1_ENST00000393063.1_Silent_p.S1232S|DICER1_ENST00000541352.1_Silent_p.S1232S|DICER1_ENST00000527414.1_Silent_p.S1232S Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1232 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TACATTCATCGCTGGGCTGGG 0.433000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 52 108 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174003 51174003 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr16:51174003G>A ENST00000440970.1 - 2 2270 c.1839C>T c.(1837-1839)atC>atT p.I613I SALL1_ENST00000251020.4_Silent_p.I710I|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 710 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCCGGTGGCAGATGATGCACT 0.542000 37 61 0 0 1 0 0 CHN2 1124 broad.mit.edu 37 7 29552210 29552210 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr7:29552210G>A ENST00000222792.6 + 13 1796 c.1266G>A c.(1264-1266)atG>atA p.M422I CHN2_ENST00000546235.1_Missense_Mutation_p.M407I|CHN2_ENST00000409041.4_Missense_Mutation_p.M286I|CHN2_ENST00000539389.1_Missense_Mutation_p.M278I|CHN2_ENST00000539406.1_Missense_Mutation_p.M497I|CHN2_ENST00000495789.2_Missense_Mutation_p.M435I|CHN2_ENST00000421775.2_Missense_Mutation_p.M228I|CHN2_ENST00000424025.2_Missense_Mutation_p.M241I|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000435288.2_Missense_Mutation_p.M146I|CHN2_ENST00000439711.2_Missense_Mutation_p.M240I NM_004067.2 NP_004058.1 P52757 CHIO_HUMAN chimerin 2 422 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 ACAATTTCATGAATGCAGAAA 0.423000 21 29 0 0 1 0 0 BRPF1 7862 broad.mit.edu 37 3 9785382 9785382 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr3:9785382G>A ENST00000383829.2 + 8 2836 c.2432G>A c.(2431-2433)cGc>cAc p.R811H BRPF1_ENST00000302054.3_Missense_Mutation_p.R805H|BRPF1_ENST00000469066.1_3'UTR|BRPF1_ENST00000457855.1_Missense_Mutation_p.R805H|BRPF1_ENST00000433861.2_Missense_Mutation_p.R805H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R804H NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 805 Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) AGTGTGGGCCGCTCACGGCGT 0.592000 17 11 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43616103 43616103 + Missense_Mutation SNP C C G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:43616103C>G ENST00000264663.5 + 4 756 c.535C>G c.(535-537)Cag>Gag p.Q179E NNT_ENST00000512996.2_Missense_Mutation_p.Q48E|NNT_ENST00000344920.4_Missense_Mutation_p.Q179E NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 179 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) GGCAATGGACCAGGTTCCAAG 0.423000 14 93 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55566403 55566403 + Missense_Mutation SNP G G C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr10:55566403G>C ENST00000373965.2 - 36 5385 c.4991C>G c.(4990-4992)tCt>tGt p.S1664C PCDH15_ENST00000414778.1_Missense_Mutation_p.S1661C NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTCATCATCAGACTGTGTGTG 0.388000 HNSCC(58;0.16) 34 65 0 0 1 0 0 TCEA3 6920 broad.mit.edu 37 1 23724057 23724057 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:23724057C>T ENST00000450454.2 - 7 751 c.645G>A c.(643-645)atG>atA p.M215I NM_003196.1 NP_003187.1 O75764 TCEA3_HUMAN transcription elongation factor A (SII), 3 215 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) TTTCTGATGCCATCTTGTCAC 0.498000 12 59 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99250815 99250815 + Missense_Mutation SNP G G T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr15:99250815G>T ENST00000268035.6 + 2 730 c.119G>T c.(118-120)cGc>cTc p.R40L IGF1R_ENST00000558762.1_Missense_Mutation_p.R40L NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 40 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ATCGACATCCGCAACGACTAT 0.502000 10 31 1.58986e-06 1.63372e-06 1 1 0 CDH7 1005 broad.mit.edu 37 18 63511084 63511084 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr18:63511084C>T ENST00000536984.2 + 7 1712 c.1018C>T c.(1018-1020)Cgg>Tgg p.R340W CDH7_ENST00000323011.3_Missense_Mutation_p.R340W|CDH7_ENST00000397968.2_Missense_Mutation_p.R340W Q9ULB5 CADH7_HUMAN cadherin 7, type 2 340 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TTACACGCTACGGATAGAAGC 0.423000 16 47 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170491 113170491 + Silent SNP G G C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:113170491G>C ENST00000401783.2 - 38 7725 c.7389C>G c.(7387-7389)ctC>ctG p.L2463L SVEP1_ENST00000297826.5_Silent_p.L389L|SVEP1_ENST00000374469.1_Silent_p.L2440L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2463 Sushi 18. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.L2466L(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TGCAGGTATAGAGAGCTGTGC 0.478000 9 27 0 0 1 0 0 ITGA3 3675 broad.mit.edu 37 17 48145460 48145460 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr17:48145460C>T ENST00000320031.8 + 4 785 c.455C>T c.(454-456)tCa>tTa p.S152L ITGA3_ENST00000007722.7_Missense_Mutation_p.S152L|ITGA3_ENST00000544892.1_Intron NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 152 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 TGGTCAGGGTCAGAAGACCAG 0.617000 15 76 0 0 1 0 0 DSCC1 79075 broad.mit.edu 37 8 120859281 120859281 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr8:120859281C>T ENST00000313655.4 - 4 740 c.526G>A c.(526-528)Gag>Aag p.E176K NM_024094.2 NP_076999.2 Q9BVC3 DCC1_HUMAN DNA replication and sister chromatid cohesion 1 176 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1) 9 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATTTCTTCCTCACTTGCCTGA 0.308000 21 43 0 0 1 0 0 AP2B1 163 broad.mit.edu 37 17 34001260 34001260 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr17:34001260G>A ENST00000262325.7 + 16 2755 c.2202G>A c.(2200-2202)ggG>ggA p.G734G AP2B1_ENST00000589344.1_Silent_p.G748G|AP2B1_ENST00000538556.1_Silent_p.G677G|AP2B1_ENST00000537622.2_Silent_p.G748G|AP2B1_ENST00000312678.8_Silent_p.G748G|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Silent_p.G710G NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 734 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) ACCGCCAAGGGCACATCTATA 0.418000 43 95 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71517433 71517433 + Missense_Mutation SNP G G T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr14:71517433G>T ENST00000304743.2 + 23 4849 c.4403G>T c.(4402-4404)tGg>tTg p.W1468L PCNX_ENST00000439984.3_Missense_Mutation_p.W1357L|PCNX_ENST00000238570.5_Missense_Mutation_p.W1468L NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1468 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CAGATCACATGGGGTTCTGCT 0.388000 105 30 2.5327e-61 2.85888e-61 1 1 0 GPR97 222487 broad.mit.edu 37 16 57719693 57719693 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr16:57719693G>A ENST00000333493.4 + 11 1556 c.1395G>A c.(1393-1395)gcG>gcA p.A465A RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.A345A|GPR97_ENST00000327655.6_Silent_p.A255A NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 465 A -> V (in Ref. 4; AAH64508). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.A465A(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GTGCTACAGCGGTCAAGGAGC 0.607000 14 46 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240256066 240256066 + Silent SNP A A G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:240256066A>G ENST00000319653.9 + 1 887 c.657A>G c.(655-657)caA>caG p.Q219Q NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 219 Gln-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.Q354_Q362delQQLQLQLQQ(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) agctccagcaacagcagcagc 0.672000 3 12 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166908262 166908262 + Missense_Mutation SNP C C G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr2:166908262C>G ENST00000423058.2 - 6 948 c.931G>C c.(931-933)Gag>Cag p.E311Q AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E311Q|SCN1A_ENST00000375405.3_Missense_Mutation_p.E311Q|SCN1A_ENST00000303395.4_Missense_Mutation_p.E311Q|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 311 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CAGTCAAACTCAAAGACAGTT 0.303000 8 34 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148427475 148427475 + Missense_Mutation SNP G G A rs80338919 TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:148427475G>A ENST00000515425.1 - 3 330 c.229C>T c.(229-231)Cgg>Tgg p.R77W SH3TC2_ENST00000512049.1_Missense_Mutation_p.R77W|SH3TC2_ENST00000394358.2_5'UTR NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 77 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCAGAGCCGCCTCCGAGCA 0.522000 5 85 0 0 1 0 0 ZMYND11 10771 broad.mit.edu 37 10 293375 293375 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr10:293375G>A ENST00000397962.3 + 12 1624 c.1196G>A c.(1195-1197)cGa>cAa p.R399Q ZMYND11_ENST00000381604.4_Missense_Mutation_p.R359Q|ZMYND11_ENST00000397959.3_Missense_Mutation_p.R314Q|ZMYND11_ENST00000558098.2_Missense_Mutation_p.R399Q|ZMYND11_ENST00000381607.4_Missense_Mutation_p.R305Q|ZMYND11_ENST00000381602.4_Missense_Mutation_p.R359Q|ZMYND11_ENST00000602682.1_Missense_Mutation_p.R314Q|ZMYND11_ENST00000381591.1_Missense_Mutation_p.R399Q|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000509513.2_Missense_Mutation_p.R398Q|ZMYND11_ENST00000381584.1_Missense_Mutation_p.R382Q|ZMYND11_ENST00000309776.4_Missense_Mutation_p.R359Q|ZMYND11_ENST00000402736.1_Missense_Mutation_p.R368Q|ZMYND11_ENST00000535374.1_Missense_Mutation_p.R194Q|ZMYND11_ENST00000545619.1_Missense_Mutation_p.R279Q|ZMYND11_ENST00000403354.1_Missense_Mutation_p.R319Q Q15326 ZMY11_HUMAN zinc finger, MYND-type containing 11 359 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R360fs*9(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 24 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AAGAAAGGACGACGTAATCAA 0.378000 12 43 0 0 1 0 0 TP53INP2 58476 broad.mit.edu 37 20 33296573 33296573 + Silent SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr20:33296573C>T ENST00000374810.3 + 3 419 c.30C>T c.(28-30)ttC>ttT p.F10F NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Silent_p.F10F NM_021202.1 NP_067025.1 Q8IXH6 T53I2_HUMAN tumor protein p53 inducible nuclear protein 2 10 nucleus endometrium(1)|urinary_tract(1) 2 GCCTCTTCTTCAGCACCCCCT 0.657000 4 36 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17142048 17142048 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr10:17142048C>T ENST00000377833.4 - 14 1786 c.1721G>A c.(1720-1722)aGa>aAa p.R574K NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 574 CUB 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCTCCCATTTCTTAAATGTTC 0.403000 20 104 0 0 1 0 0 GOLGA6L17P 642402 broad.mit.edu 37 15 85053142 85053142 + RNA SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr15:85053142C>T ENST00000414190.2 - 0 310 NR_003246.2 TTTTTCAATTCCTTGACCCGC 0.413000 5 8 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100382357 100382357 + Missense_Mutation SNP G G T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr6:100382357G>T ENST00000281806.2 - 5 938 c.624C>A c.(622-624)ttC>ttA p.F208L MCHR2_ENST00000369212.1_Missense_Mutation_p.F208L|MCHR2_ENST00000445970.1_Missense_Mutation_p.F208L NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 208 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) AGGGTAGAGGGAAAAAAAAAG 0.343000 58 31 7.22619e-39 8.0955e-39 1 1 0 ZNF641 121274 broad.mit.edu 37 12 48737262 48737262 + Missense_Mutation SNP T T C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:48737262T>C ENST00000544117.2 - 6 1519 c.811A>G c.(811-813)Aaa>Gaa p.K271E ZNF641_ENST00000547026.1_Missense_Mutation_p.K257E|ZNF641_ENST00000301042.3_Missense_Mutation_p.K271E|ZNF641_ENST00000448928.3_Missense_Mutation_p.K248E Q96N77 ZN641_HUMAN zinc finger protein 641 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 ACAAACTGTTTCCCACACTGG 0.532000 15 58 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129159271 129159271 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:129159271G>A ENST00000540052.1 + 6 4039 c.3995G>A c.(3994-3996)cGa>cAa p.R1332Q BCORL1_ENST00000218147.7_Missense_Mutation_p.R1332Q|BCORL1_ENST00000359304.2_Intron|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1332Q NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1332 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 AGGAAGAAACGAAGACGGCAG 0.582000 35 36 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802876 185802876 + Missense_Mutation SNP T T C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr2:185802876T>C ENST00000302277.6 + 4 3347 c.2753T>C c.(2752-2754)gTc>gCc p.V918A NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 918 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 ACCACATCTGTCTGTGTAGCT 0.388000 23 57 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20119263 20119263 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:20119263G>A ENST00000396085.1 + 32 6523 c.6162G>A c.(6160-6162)gaG>gaA p.E2054E NAV2_ENST00000311043.8_Silent_p.E1115E|NAV2_ENST00000527559.2_Silent_p.E2039E|NAV2_ENST00000349880.4_Silent_p.E2051E|NAV2_ENST00000533917.1_Silent_p.E1115E|NAV2_ENST00000540292.1_Silent_p.E2041E|NAV2_ENST00000396087.3_Silent_p.E2110E|NAV2_ENST00000360655.4_Silent_p.E1987E NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 2110 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TGGTTGGAGAGAACACGACCA 0.478000 10 101 0 0 1 0 0 GDPD5 81544 broad.mit.edu 37 11 75152211 75152211 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:75152211G>A ENST00000526177.1 - 10 2934 c.1056C>T c.(1054-1056)atC>atT p.I352I GDPD5_ENST00000533784.1_Silent_p.I371I|GDPD5_ENST00000533805.1_Silent_p.I245I|GDPD5_ENST00000529721.1_Silent_p.I490I|GDPD5_ENST00000336898.3_Silent_p.I490I|GDPD5_ENST00000376282.3_Silent_p.I371I|GDPD5_ENST00000443276.2_3'UTR Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 490 GDPD. glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 AACTCACCATGATCCAGAGGG 0.662000 11 36 0 0 1 0 0 RNMT 8731 broad.mit.edu 37 18 13741657 13741657 + Missense_Mutation SNP T T C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr18:13741657T>C ENST00000383314.2 + 7 1181 c.941T>C c.(940-942)tTt>tCt p.F314S RNMT_ENST00000535051.1_Missense_Mutation_p.F72S|RNMT_ENST00000589866.1_Missense_Mutation_p.F314S|RNMT_ENST00000543302.2_Missense_Mutation_p.F314S|RNMT_ENST00000592764.1_Missense_Mutation_p.F314S|RNMT_ENST00000262173.3_Missense_Mutation_p.F314S O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 314 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2) 18 GGGGGCTATTTTATTGGTACT 0.363000 22 75 0 0 1 0 0 GRAMD4 23151 broad.mit.edu 37 22 47059754 47059754 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr22:47059754C>T ENST00000406902.1 + 7 832 c.619C>T c.(619-621)Cgg>Tgg p.R207W GRAMD4_ENST00000361034.3_Missense_Mutation_p.R207W Q6IC98 GRAM4_HUMAN GRAM domain containing 4 207 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) AAATATGAGACGGCTCAGTGA 0.617000 18 32 0 0 1 0 0 OR6B1 135946 broad.mit.edu 37 7 143701141 143701141 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr7:143701141C>T ENST00000408922.2 + 1 120 c.52C>T c.(52-54)Cct>Tct p.P18S NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) GGTGGGATTCCCTGGGAGCTT 0.483000 12 16 0 0 1 0 0 CASK 8573 broad.mit.edu 37 X 41401990 41401990 + Missense_Mutation SNP C C G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:41401990C>G ENST00000318588.9 - 22 2154 c.2109G>C c.(2107-2109)aaG>aaC p.K703N CASK_ENST00000442742.2_Missense_Mutation_p.K680N|CASK_ENST00000378158.1_Missense_Mutation_p.K691N|CASK_ENST00000378163.1_Missense_Mutation_p.K703N|CASK_ENST00000378166.4_Missense_Mutation_p.K703N|CASK_ENST00000361962.4_Missense_Mutation_p.K691N|CASK_ENST00000421587.2_Missense_Mutation_p.K674N O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein kinase (MAGUK family) 703 cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1) 32 GCTTCTTTTTCTTGCCAAACC 0.418000 8 71 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr17:7574003G>A ENST00000269305.4 - 10 1213 c.1024C>T c.(1024-1026)Cga>Tga p.R342* TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000420246.2_3'UTR NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 342 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCAGCTCTCGGAACATCTCG 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 33 11 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140926143 140926143 + Silent SNP T T C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:140926143T>C ENST00000298296.1 + 1 42 c.42T>C c.(40-42)agT>agC p.S14S NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 14 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CCACCTTCAGTGATGGCAGTC 0.537000 6 105 0 0 1 0 0 KCNK4 50801 broad.mit.edu 37 11 64065047 64065047 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:64065047G>A ENST00000539216.1 + 4 943 c.583G>A c.(583-585)Gag>Aag p.E195K KCNK4_ENST00000539651.1_Intron|KCNK4_ENST00000394525.2_Missense_Mutation_p.E195K|KCNK4_ENST00000422670.2_Missense_Mutation_p.E195K|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Intron Q9NYG8 KCNK4_HUMAN potassium channel, subfamily K, member 4 195 integral to membrane potassium channel activity|voltage-gated ion channel activity breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 10 CTGCTATATGGAGGACTGGAG 0.577000 21 144 0 0 1 0 0 CFAP54 144535 broad.mit.edu 37 12 97085024 97085024 + Missense_Mutation SNP G G T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:97085024G>T ENST00000524981.3 + 11 1553 c.1553G>T c.(1552-1554)tGc>tTc p.C518F Q6ZTY8 CL063_HUMAN 492 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GCTGACATTTGCTCTGTAATT 0.363000 9 36 0.000274275 0.000278007 1 1 0 HYAL4 23553 broad.mit.edu 37 7 123516945 123516945 + Silent SNP G G A rs138391454 byFrequency TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr7:123516945G>A ENST00000223026.4 + 5 1820 c.1182G>A c.(1180-1182)gcG>gcA p.A394A HYAL4_ENST00000476325.1_Silent_p.A394A NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 394 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TGTGGAACGCGCCCAGTTACC 0.507000 36 51 0 0 1 0 0 MYCT1 80177 broad.mit.edu 37 6 153019042 153019042 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr6:153019042G>A ENST00000367245.5 + 1 13 c.5G>A c.(4-6)cGa>cAa p.R2Q MYCT1_ENST00000529453.1_Missense_Mutation_p.R2Q NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 2 nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) CCTTTTATGCGAACACAAGTA 0.323000 22 11 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77267139 77267139 + Missense_Mutation SNP T T G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:77267139T>G ENST00000341514.6 + 9 2295 c.2140T>G c.(2140-2142)Ttg>Gtg p.L714V ATP7A_ENST00000343533.5_Missense_Mutation_p.L714V|ATP7A_ENST00000350425.4_Intron NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 714 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 TGTTATGAATTTGCTGTCCTT 0.338000 86 215 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22169404 22169404 + Silent SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:22169404C>T ENST00000374695.3 - 67 8848 c.8769G>A c.(8767-8769)ctG>ctA p.L2923L NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2923 Ig-like C2-type 14. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGGGCTGGGCCAGTCCTGGAG 0.637000 5 38 0 0 1 0 0 GHITM 27069 broad.mit.edu 37 10 85903817 85903817 + Missense_Mutation SNP A A G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr10:85903817A>G ENST00000372134.3 + 4 489 c.296A>G c.(295-297)tAt>tGt p.Y99C NM_014394.2 NP_055209.2 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 99 apoptosis integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 TTGTGCTACTATGGCTTGGGA 0.418000 39 67 0 0 1 0 0 DRD4 1815 broad.mit.edu 37 11 640559 640559 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:640559G>A ENST00000176183.5 + 4 1228 c.1216G>A c.(1216-1218)Gag>Aag p.E406K NM_000797.3 NP_000788.2 P21917 DRD4_HUMAN dopamine receptor D4 454 activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior integral to plasma membrane dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703) Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246) CTTCAACGCCGAGTTCCGCAA 0.697000 24 70 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139749038 139749038 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:139749038C>T ENST00000445819.1 + 8 894 c.844C>T c.(844-846)Cgc>Tgc p.R282C MAMDC4_ENST00000317446.2_Missense_Mutation_p.R282C|MAMDC4_ENST00000485732.1_3'UTR Q6UXC1 AEGP_HUMAN MAM domain containing 4 282 MAM 2. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCCATGGAACCGCTCGGAAGG 0.687000 5 10 0 0 1 0 0 TANGO6 79613 broad.mit.edu 37 16 69056846 69056846 + Missense_Mutation SNP G G C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr16:69056846G>C ENST00000261778.1 + 16 2970 c.2958G>C c.(2956-2958)caG>caC p.Q986H NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) AGCTGTGCCAGAGGCTGGACT 0.522000 3 9 0 0 1 0 0 SPANXN1 494118 broad.mit.edu 37 X 144337190 144337190 + Splice_Site SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:144337190G>A ENST00000370493.3 + 2 834 c.e2-1 NM_001009614.2 NP_001009614.1 Q5VSR9 SPXN1_HUMAN SPANX family, member N1 p.?(2) endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TTTCTTAACAGATGCAGGAGA 0.443000 16 80 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138724819 138724819 + Translation_Start_Site SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:138724819C>T ENST00000370576.4 - 0 68 MCF2_ENST00000414978.1_Intron|MCF2_ENST00000536274.1_De_novo_Start_OutOfFrame|MCF2_ENST00000370578.4_Intron|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000519895.1_Intron NM_001171879.1|NM_005369.4 NP_001165350.1|NP_005360.3 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TCCATTAGCACAGTGGCAGCA 0.433000 3 28 0 0 1 0 0 NELFCD 51497 broad.mit.edu 37 20 57568743 57568743 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr20:57568743C>T ENST00000602795.1 + 13 1607 c.1559C>T c.(1558-1560)cCt>cTt p.P520L NELFCD_ENST00000479207.1_Intron|NELFCD_ENST00000344018.3_Missense_Mutation_p.P511L negative elongation factor complex member C/D TATGTACTTCCTGTTGTCAGT 0.483000 34 72 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63547695 63547695 + Silent SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr18:63547695C>T ENST00000397968.2 + 12 2349 c.1923C>T c.(1921-1923)gaC>gaT p.D641D CDH7_ENST00000323011.3_Silent_p.D641D NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 641 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TTATTTTTGACGAAGAAAGAG 0.443000 9 28 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55221973 55221973 + RNA SNP C C A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr19:55221973C>A ENST00000413439.1 + 0 1500 CTGTGTCAGTCACGGGAGCAG 0.617000 19 44 6.49762e-13 7.06675e-13 1 1 0 OR5AR1 219493 broad.mit.edu 37 11 56432082 56432082 + Silent SNP A A G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:56432082A>G ENST00000302969.2 + 1 945 c.921A>G c.(919-921)aaA>aaG p.K307K NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TAATTGGAAAAAAATCTCAAT 0.348000 12 25 0 0 1 0 0 POLR1E 64425 broad.mit.edu 37 9 37486603 37486603 + Missense_Mutation SNP A A G rs1571234 by1000genomes TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:37486603A>G ENST00000377792.3 + 1 454 c.166A>G c.(166-168)Aca>Gca p.T56A POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron Q9GZS1 RPA49_HUMAN polymerase (RNA) I polypeptide E, 53kDa 56 T -> A (in Ref. 1; BAC03629). rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 12 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) CCCCATTCTGACACTCCCTCC 0.562000 3 29 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180338567 180338567 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:180338567G>A ENST00000231229.4 + 3 860 c.626G>A c.(625-627)cGg>cAg p.R209Q BTNL8_ENST00000533815.2_Missense_Mutation_p.R25Q|BTNL8_ENST00000511704.1_Missense_Mutation_p.R93Q|BTNL8_ENST00000508408.1_Missense_Mutation_p.R209Q|BTNL8_ENST00000505126.1_Missense_Mutation_p.R2Q|BTNL8_ENST00000400707.3_Missense_Mutation_p.R84Q|BTNL8_ENST00000340184.4_Missense_Mutation_p.R209Q NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 209 Ig-like V-type 2. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTTCCATGCGGCATGCTCAT 0.547000 39 30 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120539834 120539834 + Nonsense_Mutation SNP A A T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:120539834A>T ENST00000256646.2 - 4 756 c.537T>A c.(535-537)tgT>tgA p.C179* NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140* NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 179 EGF-like 4. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.C179*(1)|p.C140*(1) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CATCAGTCTCACATTTCTGCC 0.552000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 39 51 0 0 1 0 0 CCNJ 54619 broad.mit.edu 37 10 97810064 97810064 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr10:97810064C>T ENST00000265992.5 + 3 488 c.121C>T c.(121-123)Cgg>Tgg p.R41W CCNJ_ENST00000534974.1_Missense_Mutation_p.R41W|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R41W|CCNJ_ENST00000403870.3_Missense_Mutation_p.R41W|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA NM_001134375.1|NM_001134376.1|NM_019084.4 NP_001127847.1|NP_001127848.1|NP_061957.2 Q5T5M9 CCNJ_HUMAN cyclin J 41 Cyclin N-terminal. nucleus p.R41W(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 11 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) AAGTCTCAGACGGTATTTTGC 0.478000 24 58 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263856 140263856 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:140263856C>T ENST00000289272.2 + 1 2003 c.2003C>T c.(2002-2004)tCg>tTg p.S668L PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S668L|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCTGTTGTCGCTGGTGGAG 0.672000 30 38 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971028 21971028 + Nonsense_Mutation SNP C C T rs121913389 TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:21971028C>T ENST00000304494.5 - 2 600 c.330G>A c.(328-330)tgG>tgA p.W110* CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 110 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.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(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) GCAGACGGCCCCAGGCATCGC 0.736000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 11 17 0 0 1 0 0 FGL2 10875 broad.mit.edu 37 7 76826174 76826174 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr7:76826174C>T ENST00000248598.5 - 2 774 c.742G>A c.(742-744)Ggg>Agg p.G248R CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 248 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 CAGCCTCCCCCCATGGTCTCC 0.493000 44 65 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71942214 71942214 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:71942214C>T ENST00000298229.2 + 12 1682 c.1478C>T c.(1477-1479)aCg>aTg p.T493M INPPL1_ENST00000538751.1_Missense_Mutation_p.T251M|INPPL1_ENST00000541756.1_Missense_Mutation_p.T251M NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 493 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 AAGGAGCTTACGGATCTGGAT 0.592000 118 126 0 0 1 0 0 OR1N1 138883 broad.mit.edu 37 9 125288840 125288840 + Missense_Mutation SNP C C T rs151154516 byFrequency TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:125288840C>T ENST00000304880.2 - 1 732 c.733G>A c.(733-735)Gtt>Att p.V245I NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 ACACAAACAACGCAGAGGTGG 0.547000 13 55 0 0 1 0 0 ATP8B5P 158381 broad.mit.edu 37 9 35450086 35450086 + RNA SNP C C A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:35450086C>A ENST00000430846.1 + 0 2936 AACAGAAGATCTGCAGGCTTC 0.418000 23 66 1.50039e-11 1.61999e-11 1 1 0 MEGF6 1953 broad.mit.edu 37 1 3422007 3422007 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:3422007G>A ENST00000356575.4 - 16 2258 c.2032C>T c.(2032-2034)Cgg>Tgg p.R678W MEGF6_ENST00000294599.4_Missense_Mutation_p.R573W NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 678 extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) CGCTCGCCCCGGAAGCCAGCC 0.697000 5 9 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91131788 91131788 + Missense_Mutation SNP C C A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:91131788C>A ENST00000373094.1 + 2 1394 c.549C>A c.(547-549)aaC>aaA p.N183K PCDH11X_ENST00000395337.2_Missense_Mutation_p.N183K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N183K|PCDH11X_ENST00000504220.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N183K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N183K NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 183 Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 AGAGTCAAAACATTTTTGGCC 0.289000 27 76 3.62531e-18 4.00126e-18 1 1 0 ABTB1 80325 broad.mit.edu 37 3 127394943 127394943 + Missense_Mutation SNP C C G rs75647091 by1000genomes TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr3:127394943C>G ENST00000232744.8 + 4 392 c.306C>G c.(304-306)gaC>gaG p.D102E ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000393363.3_5'UTR Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 102 cytoplasm|nucleolus|plasma membrane translation elongation factor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 ATTACTATGACGACTTCTTGC 0.642000 36 28 0 0 1 0 0 OCRL 4952 broad.mit.edu 37 X 128696645 128696645 + Missense_Mutation SNP C C G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:128696645C>G ENST00000371113.4 + 12 1291 c.1126C>G c.(1126-1128)Ctg>Gtg p.L376V OCRL_ENST00000357121.5_Missense_Mutation_p.L376V NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 376 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 CAATTCCCATCTGGCTGCACA 0.428000 28 143 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113332462 113332462 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:113332462G>A ENST00000389385.4 + 20 2352 c.1855G>A c.(1855-1857)Gag>Aag p.E619K RPH3A_ENST00000447659.2_Missense_Mutation_p.E570K|RPH3A_ENST00000415485.3_Missense_Mutation_p.E619K|RPH3A_ENST00000551052.1_Missense_Mutation_p.E615K|RPH3A_ENST00000420983.2_Missense_Mutation_p.E619K|RPH3A_ENST00000548866.1_Missense_Mutation_p.E570K|RPH3A_ENST00000543106.2_Missense_Mutation_p.E619K|RPH3A_ENST00000549913.2_3'UTR NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 619 C2 2. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) CGAATTCAATGAGGTAAGGCT 0.448000 6 23 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538942 27538942 + RNA SNP T T C rs590142 by1000genomes TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr10:27538942T>C ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA TCATTATTAATAGGTTCCGGA 0.537000 8 152 0 0 1 0 0 CASC3 22794 broad.mit.edu 37 17 38320341 38320341 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr17:38320341G>A ENST00000264645.7 + 7 1619 c.1393G>A c.(1393-1395)Gat>Aat p.D465N NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 465 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 ACTTGAGCAAGATGTGGCACA 0.517000 13 58 0 0 1 0 0 PLA2G15 23659 broad.mit.edu 37 16 68289698 68289698 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr16:68289698C>T ENST00000219345.5 + 5 615 c.532C>T c.(532-534)Cgc>Tgc p.R178C PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Intron|PLA2G15_ENST00000566188.1_Intron NM_012320.3 NP_036452.1 Q8NCC3 PAG15_HUMAN phospholipase A2, group XV 178 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 CCTGGCCCTCCGCGAGATGAT 0.607000 26 33 0 0 1 0 0 CLPTM1 1209 broad.mit.edu 37 19 45496031 45496031 + Missense_Mutation SNP C C T rs148362509 byFrequency TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr19:45496031C>T ENST00000541297.2 + 14 2309 c.1844C>T c.(1843-1845)aCg>aTg p.T615M CLPTM1_ENST00000546079.1_Missense_Mutation_p.T527M|CLPTM1_ENST00000337392.5_Missense_Mutation_p.T629M O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 629 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) GCACCCACCACGACCACCGCC 0.697000 7 49 0 0 1 0 0 KCNG4 93107 broad.mit.edu 37 16 84255948 84255948 + Missense_Mutation SNP G G T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr16:84255948G>T ENST00000308251.4 - 3 1503 c.1435C>A c.(1435-1437)Caa>Aaa p.Q479K NM_172347.2 NP_758857.1 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 479 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 CCGGTGTTTTGGAGGTGGCGG 0.587000 50 118 4.1673e-28 4.63379e-28 1 1 0 EHMT2 10919 broad.mit.edu 37 6 31864767 31864767 + Splice_Site SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr6:31864767C>T ENST00000375537.4 - 2 49 c.e2-1 EHMT2_ENST00000375528.4_Silent_p.Q71Q|EHMT2_ENST00000375530.4_Splice_Site|EHMT2_ENST00000395728.3_Silent_p.Q71Q NM_006709.3 NP_006700.3 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 GGGCCTCCCCCTGGGAGGGGA 0.662000 5 90 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211471538 211471538 + Missense_Mutation SNP C C T rs147443001 TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr2:211471538C>T ENST00000233072.5 + 18 2261 c.2065C>T c.(2065-2067)Cgc>Tgc p.R689C CPS1_ENST00000451903.2_Missense_Mutation_p.R238C|CPS1_ENST00000430249.2_Missense_Mutation_p.R695C NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 689 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CAATGTTGTTCGCCACTTGGG 0.468000 13 67 0 0 1 0 0 KRT7 3855 broad.mit.edu 37 12 52627278 52627278 + Silent SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:52627278C>T ENST00000331817.5 + 1 381 c.198C>T c.(196-198)gtC>gtT p.V66V NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 66 Head. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) TCCGCGAGGTCACCATTAACC 0.721000 24 14 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29886350 29886350 + Silent SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr22:29886350G>A ENST00000310624.6 + 4 2754 c.2721G>A c.(2719-2721)gaG>gaA p.E907E NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 913 Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 CCACCCCAGAGAAGGAGGCTC 0.498000 4 21 0 0 1 0 0 PARD6G 84552 broad.mit.edu 37 18 77960806 77960806 + Nonsense_Mutation SNP C C A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr18:77960806C>A ENST00000353265.3 - 2 279 c.82G>T c.(82-84)Gaa>Taa p.E28* AC139100.3_ENST00000588950.1_RNA|PARD6G_ENST00000470488.2_Nonsense_Mutation_p.E28* NM_032510.3 NP_115899.1 Q9BYG4 PAR6G_HUMAN par-6 family cell polarity regulator gamma 28 OPR. cell cycle|cell division|tight junction assembly cytosol|tight junction protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144) Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23) CTTCGGAATTCCGCCCCAAAC 0.458000 3 20 0.004672 0.004672 1 1 0 ZNF252P 286101 broad.mit.edu 37 8 146220446 146220446 + RNA SNP G G A rs4489360 by1000genomes TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr8:146220446G>A ENST00000426361.2 - 0 245 NR_023392.1 endometrium(1) 1 TGGCACATACGAGATCTCTGA 0.502000 3 31 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25265103 25265103 + Splice_Site SNP A A G rs7981616 by1000genomes TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr13:25265103A>G ENST00000218548.6 + 8 1134 c.799_splice c.e8-1 p.A267_splice ATP12A_ENST00000381946.3_Intron NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 266 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GGAATAAAGCATCTACTTCCC 0.572000 6 147 0 0 1 0 0 ZNF81 347344 broad.mit.edu 37 X 47774432 47774432 + Missense_Mutation SNP A A T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:47774432A>T ENST00000376954.1 + 6 755 c.387A>T c.(385-387)ttA>ttT p.L129F ZNF81_ENST00000338637.7_Missense_Mutation_p.L129F P51508 ZNF81_HUMAN zinc finger protein 81 129 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) ACTCTATTTTAGAAGAATTGT 0.353000 24 31 0 0 1 0 0 KIF12 113220 broad.mit.edu 37 9 116859596 116859596 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:116859596C>T ENST00000374118.3 - 4 454 c.217G>A c.(217-219)Gaa>Aaa p.E73K KIF12_ENST00000473174.1_Intron NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 206 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 TGCAAAAGTTCCATCAGGGCC 0.607000 3 30 0 0 1 0 0 RBM34 23029 broad.mit.edu 37 1 235301488 235301488 + Splice_Site SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:235301488G>A ENST00000408888.3 - 7 933 c.701_splice c.e7-1 p.R235_splice RBM34_ENST00000366606.3_Splice_Site_p.R230_splice P42696 RBM34_HUMAN RNA binding motif protein 34 235 RRM 1. nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) TGAATTTTACGTCTACACCAA 0.333000 11 15 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95683890 95683890 + Missense_Mutation SNP G G C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr8:95683890G>C ENST00000433389.2 + 11 1633 c.1443G>C c.(1441-1443)ttG>ttC p.L481F ESRP1_ENST00000454170.2_Missense_Mutation_p.L481F|ESRP1_ENST00000358397.5_Missense_Mutation_p.L481F|ESRP1_ENST00000423620.2_Missense_Mutation_p.L481F NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 481 RRM 3. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 ACATGGTTTTGAATCACCAGG 0.383000 7 33 0 0 1 0 0 CCER1 196477 broad.mit.edu 37 12 91348029 91348029 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:91348029G>A ENST00000358859.2 - 1 924 c.491C>T c.(490-492)gCg>gTg p.A164V CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 GCTCACATCCGCTGGCGGGCT 0.687000 14 41 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182555479 182555479 + Nonsense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:182555479G>A ENST00000367559.3 - 2 716 c.463C>T c.(463-465)Cga>Tga p.R155* RNASEL_ENST00000444138.1_Nonsense_Mutation_p.R155*|RNASEL_ENST00000539397.1_Nonsense_Mutation_p.R155* NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 155 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 TTTGTCTTTCGCCTCAAATTC 0.468000 11 20 0 0 1 0 0 EHD1 10938 broad.mit.edu 37 11 64627529 64627529 + Missense_Mutation SNP G G A rs137874978 TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:64627529G>A ENST00000320631.3 - 3 1036 c.782C>T c.(781-783)cCg>cTg p.P261L EHD1_ENST00000359393.2_Missense_Mutation_p.P261L NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 261 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 GATGAGGAGCGGGTGGGACCA 0.627000 8 77 0 0 1 0 0 TBX22 50945 broad.mit.edu 37 X 79281158 79281158 + Missense_Mutation SNP T T A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:79281158T>A ENST00000442340.1 + 5 645 c.155T>A c.(154-156)aTc>aAc p.I52N TBX22_ENST00000373291.1_Missense_Mutation_p.I52N|TBX22_ENST00000373294.5_Missense_Mutation_p.I172N|TBX22_ENST00000373296.3_Missense_Mutation_p.I172N NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 172 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CATTTGTGCATCATTCCTAGA 0.498000 11 75 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 4 22 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202723 140202723 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:140202723G>A ENST00000529859.1 + 1 1363 c.1363G>A c.(1363-1365)Gcg>Acg p.A455T PCDHA5_ENST00000529619.1_Missense_Mutation_p.A455T|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A455T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGGCGTTCGCGCAGCCCCA 0.677000 29 61 0 0 1 0 0 FGD1 2245 broad.mit.edu 37 X 54476096 54476096 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:54476096G>A ENST00000375135.3 - 14 2877 c.2144C>T c.(2143-2145)tCt>tTt p.S715F NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 715 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TCTTACTGGAGAGTTGGGTGG 0.532000 13 120 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730444 140730444 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:140730444G>A ENST00000523390.1 + 1 617 c.617G>A c.(616-618)cGc>cAc p.R206H PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTCTCATCGCTTAATCCTG 0.493000 32 28 0 0 1 0 0 MRPL17 63875 broad.mit.edu 37 11 6704513 6704513 + Silent SNP G G C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:6704513G>C ENST00000288937.6 - 1 119 c.15C>G c.(13-15)gtC>gtG p.V5V NM_022061.3 NP_071344.1 Q9NRX2 RM17_HUMAN mitochondrial ribosomal protein L17 5 translation ribosome protein domain specific binding|structural constituent of ribosome lung(4) 4 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCGCTGCAGCGACCGACAGCC 0.632000 OREG0020719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 11 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411278 126411278 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr4:126411278C>T ENST00000394329.3 + 17 13314 c.13301C>T c.(13300-13302)cCg>cTg p.P4434L FAT4_ENST00000335110.5_Missense_Mutation_p.P2675L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4434 EGF-like 6. 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 GCCTCCCACCCGTGCCAGAAT 0.607000 45 36 0 0 1 0 0 RNPS1 10921 broad.mit.edu 37 16 2314602 2314602 + Missense_Mutation SNP T T C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr16:2314602T>C ENST00000565678.1 - 2 588 c.43A>G c.(43-45)Aaa>Gaa p.K15E RNPS1_ENST00000567147.1_Intron|RNPS1_ENST00000561718.1_Intron|RNPS1_ENST00000397086.2_Missense_Mutation_p.K15E|RNPS1_ENST00000320225.5_Missense_Mutation_p.K15E|RNPS1_ENST00000301730.8_Missense_Mutation_p.K15E|RNPS1_ENST00000566458.1_Intron|RNPS1_ENST00000568631.1_Missense_Mutation_p.K15E|RNPS1_ENST00000569598.2_Missense_Mutation_p.K15E Q15287 RNPS1_HUMAN RNA binding protein S1, serine-rich domain 15 Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription cytosol|nuclear speck mRNA 3'-UTR binding|nucleotide binding|protein binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1) 9 TTATTTTCTTTGACTCCTAGC 0.443000 32 41 0 0 1 0 0 SENP2 59343 broad.mit.edu 37 3 185347618 185347618 + Nonsense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr3:185347618C>T ENST00000296257.5 + 17 1996 c.1756C>T c.(1756-1758)Cag>Tag p.Q586* SENP2_ENST00000545472.1_Nonsense_Mutation_p.Q576*|SENP2_ENST00000427465.2_Nonsense_Mutation_p.Q410* NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 586 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) AATCCTTCATCAGCAGTTGCT 0.468000 14 80 0 0 1 0 0 PDCL3 79031 broad.mit.edu 37 2 101186128 101186128 + Missense_Mutation SNP G G C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr2:101186128G>C ENST00000264254.6 + 4 691 c.313G>C c.(313-315)Gaa>Caa p.E105Q NM_024065.4 NP_076970.1 Q9H2J4 PDCL3_HUMAN phosducin-like 3 105 apoptosis|interspecies interaction between organisms cytoplasm protein binding endometrium(3)|large_intestine(2)|liver(1)|lung(6) 12 TTATGTTCAAGAAGTTACCAA 0.428000 6 77 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31091299 31091299 + Silent SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr16:31091299C>T ENST00000394979.2 + 1 4077 c.3654C>T c.(3652-3654)ctC>ctT p.L1218L ZNF646_ENST00000300850.5_Silent_p.L1218L O15015 ZN646_HUMAN zinc finger protein 646 1218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CCGGCAGCCTCATCAACCACC 0.637000 12 23 0 0 1 0 0 NKX6-1 4825 broad.mit.edu 37 4 85419045 85419045 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr4:85419045C>T ENST00000295886.4 - 1 558 c.337G>A c.(337-339)Gcc>Acc p.A113T NM_006168.2 NP_006159.2 P78426 NKX61_HUMAN NK6 homeobox 1 113 Repressor domain (By similarity). detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation nucleus central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 15 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.0013) gGCAGGGCGGCCCCCGAGGCC 0.751000 2 0 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179730517 179730517 + Missense_Mutation SNP C C T rs139607358 byFrequency TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr2:179730517C>T ENST00000420890.2 - 17 2818 c.2701G>A c.(2701-2703)Gcc>Acc p.A901T CCDC141_ENST00000295723.5_Missense_Mutation_p.A326T NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 326 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TCTCTCATGGCGCAGTACTCC 0.532000 43 197 0 0 1 0 0 TCEAL6 158931 broad.mit.edu 37 X 101396190 101396190 + Silent SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:101396190C>T ENST00000372774.3 - 3 363 c.114G>A c.(112-114)gcG>gcA p.A38A TCEAL6_ENST00000372773.1_Silent_p.A38A NM_001006938.2 NP_001006939.2 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 38 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 14 tcttcccctccgcgtctggct 0.498000 12 77 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25468205 25468205 + RNA SNP G G C TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr15:25468205G>C ENST00000453082.2 + 0 753 NR_003343.1 TGTGCCCCCAGATGGTGAGAC 0.592000 13 9 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16203028 16203028 + Missense_Mutation SNP C C T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:16203028C>T ENST00000375759.3 + 3 940 c.736C>T c.(736-738)Cat>Tat p.H246Y SPEN_ENST00000471538.1_3'UTR NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 246 Arg-rich.|Ser-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCGGTCACCACATTCATCCCA 0.542000 39 35 0 0 1 0 0 PVRL3 25945 broad.mit.edu 37 3 110830979 110830979 + Missense_Mutation SNP A A G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr3:110830979A>G ENST00000485303.1 + 2 538 c.263A>G c.(262-264)cAg>cGg p.Q88R PVRL3_ENST00000493615.1_Missense_Mutation_p.Q65R|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.Q88R NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 88 Ig-like V-type. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 ACCATAACACAGATTTCATGG 0.403000 6 93 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176523713 176523713 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr5:176523713G>A ENST00000292408.4 + 16 2369 c.2124G>A c.(2122-2124)atG>atA p.M708I FGFR4_ENST00000292410.3_Missense_Mutation_p.M668I|FGFR4_ENST00000502906.1_Missense_Mutation_p.M708I|FGFR4_ENST00000393648.2_Missense_Mutation_p.M640I|FGFR4_ENST00000393637.1_Missense_Mutation_p.M668I NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 708 Protein kinase. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) GACATCGGATGGACCGACCCC 0.657000 TSP Lung(9;0.080) 4 17 0 0 1 0 0 PYGB 5834 broad.mit.edu 37 20 25262744 25262744 + Silent SNP G G T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr20:25262744G>T ENST00000216962.4 + 12 1589 c.1479G>T c.(1477-1479)ctG>ctT p.L493L NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 493 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) GCCGGTGGCTGCTGCTGTGCA 0.592000 25 30 7.07758e-08 7.32333e-08 1 1 0 CNN3 1266 broad.mit.edu 37 1 95367290 95367290 + Missense_Mutation SNP C C G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:95367290C>G ENST00000370206.4 - 5 819 c.436G>C c.(436-438)Gaa>Caa p.E146Q CNN3_ENST00000545882.1_Missense_Mutation_p.E105Q|CNN3_ENST00000394202.4_Missense_Mutation_p.E100Q|CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000538964.1_Missense_Mutation_p.E146Q NM_001839.3 NP_001830.1 Q15417 CNN3_HUMAN calponin 3, acidic 146 actomyosin structure organization|smooth muscle contraction actin binding|calmodulin binding|tropomyosin binding|troponin C binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2) 18 all_lung(203;0.00206)|Lung NSC(277;0.00948) all cancers(265;0.0325)|Epithelial(280;0.0861) GTTTGTTTTTCTGCATACTTA 0.363000 9 33 0 0 1 0 0 GRHL3 57822 broad.mit.edu 37 1 24663602 24663602 + Missense_Mutation SNP C C T rs149044763 by1000genomes TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:24663602C>T ENST00000361548.4 + 5 877 c.647C>T c.(646-648)cCg>cTg p.P216L GRHL3_ENST00000236255.4_Missense_Mutation_p.P221L|GRHL3_ENST00000356046.2_Missense_Mutation_p.P170L|GRHL3_ENST00000350501.5_Missense_Mutation_p.P216L|GRHL3_ENST00000342072.4_Missense_Mutation_p.P123L NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 216 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) AAAACCTCCCCGGAACCCCCA 0.567000 8 27 0 0 1 0 0 TFAP2E 339488 broad.mit.edu 37 1 36060122 36060122 + Missense_Mutation SNP G G T TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:36060122G>T ENST00000373235.3 + 7 1382 c.1174G>T c.(1174-1176)Ggc>Tgc p.G392C NM_178548.3 NP_848643.2 Q6VUC0 AP2E_HUMAN transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) 392 H-S-H (helix-span-helix), dimerization. nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1) 2 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CATCACCCATGGCTTCGGTGG 0.587000 35 44 4.11147e-13 4.50448e-13 1 1 0 FOCAD 54914 broad.mit.edu 37 9 20981650 20981650 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:20981650G>A ENST00000380249.1 + 40 4967 c.4603G>A c.(4603-4605)Ggg>Agg p.G1535R FOCAD_ENST00000605086.1_Missense_Mutation_p.G971R|FOCAD_ENST00000338382.6_Missense_Mutation_p.G1535R NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1535 integral to membrane binding TGAAGCTACTGGGAAAATTTT 0.463000 13 43 0 0 1 0 0 CLCC1 23155 broad.mit.edu 37 1 109479802 109479803 + Frame_Shift_Del DEL TC TC - TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr1:109479802_109479803delTC ENST00000369971.2 - 10 1408_1409 c.1279_1280delGA c.(1279-1281)tfs p.D427fs CLCC1_ENST00000348264.2_Frame_Shift_Del_p.D242fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.D427fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.D377fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.D306fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.D242fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.D377fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.D306fs NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 427 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) CAAGTCAACATCTCTCTCTCTC 0.520 33 68 --- --- --- --- RBM5 10181 broad.mit.edu 37 3 50144226 50144227 + Frame_Shift_Del DEL AC AC - TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr3:50144226_50144227delAC ENST00000347869.3 + 11 1057_1058 c.882_883delAC c.(880-885)ttagfs p.LQ294fs NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 294 RRM 2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTCAGATATTACAGAGTCTCCA 0.396 32 19 --- --- --- --- TP63 8626 broad.mit.edu 37 3 189526228 189526229 + Frame_Shift_Ins INS - - A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr3:189526228_189526229insA ENST00000264731.3 + 4 581_582 c.492_493insA c.(490-495)gctcccfs p.P165fs TP63_ENST00000354600.5_Frame_Shift_Ins_p.P71fs|TP63_ENST00000440651.2_Frame_Shift_Ins_p.P165fs|TP63_ENST00000392463.2_Frame_Shift_Ins_p.P71fs|TP63_ENST00000418709.2_Frame_Shift_Ins_p.P165fs|TP63_ENST00000437221.1_Frame_Shift_Ins_p.P71fs|TP63_ENST00000449992.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Frame_Shift_Ins_p.P71fs|TP63_ENST00000320472.5_Frame_Shift_Ins_p.P165fs|TP63_ENST00000392461.3_Frame_Shift_Ins_p.P71fs|TP63_ENST00000392460.3_Frame_Shift_Ins_p.P165fs NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 165 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) CATCACCCGCCATCCCCTCCAA 0.644 HNSCC(45;0.13) 54 67 --- --- --- --- AC226119.5 0 broad.mit.edu 37 4 3951121 3951122 + RNA INS - - TGTC rs35568143 TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr4:3951121_3951122insTGTC ENST00000281228.8 - 0 344 FAM86EP_ENST00000313946.8_RNA cgttttcACTTTGTGCAGGAAG 0.515 5 9 --- --- --- --- SLC17A2 10246 broad.mit.edu 37 6 25921520 25921520 + Frame_Shift_Del DEL T T - TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr6:25921520delT ENST00000377850.3 - 4 885 c.361delA c.(361-363)tgfs p.M121fs SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs O00624 NPT3_HUMAN solute carrier family 17, member 2 121 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.M121fs*7(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GCACCAAGCATTTTTTTTGCT 0.453 7 76 --- --- --- --- TRGC2 6967 broad.mit.edu 37 7 38284884 38284885 + RNA INS - - GG rs138091320 by1000genomes TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr7:38284884_38284885insGG ENST00000436911.2 - 0 330 TTATTTGTCAAGgtgtgtgtgt 0.391 19 53 --- --- --- --- PCSK5 5125 broad.mit.edu 37 9 78855573 78855575 + In_Frame_Del DEL GAA GAA - TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr9:78855573_78855575delGAA ENST00000545128.1 + 24 3653_3655 c.3115_3117delGAA c.(3115-3117)del p.E1040del NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 742 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TGTCCCTTGTGAAGAAGGATGTC 0.429 2 4 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 4 2 --- --- --- --- ATN1 1822 broad.mit.edu 37 12 7045880 7045885 + In_Frame_Del DEL CAGCAA CAGCAA - TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:7045880_7045885delCAGCAA ENST00000356654.4 + 5 1687_1692 c.1450_1455delCAGCAA c.(1450-1455)del p.QQ500del ATN1_ENST00000396684.2_In_Frame_Del_p.QQ500del NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 500 Poly-Gln. cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 CCATCACCACcagcaacagcaacagc 0.626 30 316 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 7 25 --- --- --- --- CFAP54 144535 broad.mit.edu 37 12 97043730 97043733 + Frame_Shift_Del DEL ACAA ACAA - TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr12:97043730_97043733delACAA ENST00000524981.3 + 2 105_108 c.105_108delACAA c.(103-108)acfs p.TQ35fs Q6ZTY8 CL063_HUMAN 9 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TGTCCAAGACACAAACAGTTTATG 0.299 23 37 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 5 9 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138373 20138374 + RNA INS - - AAG rs150133272 TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr14:20138373_20138374insAAG ENST00000548261.1 + 0 391 GAAACAaaagaaagaaagaaag 0.396 7 7 --- --- --- --- AJUBA 84962 broad.mit.edu 37 14 23447637 23447651 + In_Frame_Del DEL TGCACTTGATACAGG TGCACTTGATACAGG - TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr14:23447637_23447651delTGCACTTGATACAGG ENST00000262713.2 - 2 1385_1399 c.1010_1024delCCTGTATCAAGTGCA c.(1009-1026)aac>a p.TCIKCN337del RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_In_Frame_Del_p.TCIKCN337del NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 337 LIM zinc-binding 1. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding ATGCCTTTGTTGCACTTGATACAGGTGCCTGAGAA 0.540 43 51 --- --- --- --- TMEM30B 161291 broad.mit.edu 37 14 61747707 61747708 + In_Frame_Ins INS - - AGGCCC rs11538992 TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr14:61747707_61747708insAGGCCC ENST00000555868.1 - 1 850_851 c.158_159insGGGCCT c.(157-159)cta>cGGGCCTta p.52_53insRA TMEM30B_ENST00000355702.2_In_Frame_Ins_p.52_53insRA|TMEM30B_ENST00000557163.1_Intron NM_001017970.2 NP_001017970.1 Q3MIR4 CC50B_HUMAN transmembrane protein 30B 52 integral to membrane breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181) AGGAGTAGTAGAGGCCCAGGCC 0.703 2 4 --- --- --- --- IMP3 55272 broad.mit.edu 37 15 75932053 75932054 + Frame_Shift_Ins INS - - GC TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr15:75932053_75932054insGC ENST00000314852.2 - 2 1399_1400 c.456_457insGC c.(454-459)cggcatfs p.H153fs IMP3_ENST00000403490.1_Frame_Shift_Ins_p.H153fs Q9NV31 IMP3_HUMAN IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast) 153 S4 RNA-binding. rRNA processing nucleolus|ribonucleoprotein complex protein binding|rRNA binding large_intestine(1) 1 TCCTCCATGCTGCGCGTGACAA 0.609 31 70 --- --- --- --- ASXL1 171023 broad.mit.edu 37 20 31022441 31022442 + Frame_Shift_Ins INS - - G TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chr20:31022441_31022442insG ENST00000375687.4 + 13 2350_2351 c.1926_1927insG c.(1924-1929)ggggggfs p.GG642fs ASXL1_ENST00000306058.5_Frame_Shift_Ins_p.GG637fs NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 642 Gly-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.G643fs*15(5)|p.A640fs*14(2)|p.T639_G659>PPWD(1)|p.A637fs*13(1)|p.A640_S664>PCSGG(1)|p.T639fs*14(1)|p.T639fs*19(1)|p.T639_P647>PPSDGS(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CTGCCATCGGAGGGGGGGGTGG 0.693 """F, N, Mis""" """MDS, CMML""" 13 23 --- --- --- --- RGAG1 57529 broad.mit.edu 37 X 109694331 109694332 + Frame_Shift_Del DEL AG AG - TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a040a5e-3d2b-433a-9786-7c26b433c0c2 b2300f2e-710b-48ba-9a65-ae9742efe92d g.chrX:109694331_109694332delAG ENST00000465301.2 + 3 732_733 c.486_487delAG c.(484-489)gcagfs p.AE162fs RGAG1_ENST00000540313.1_Frame_Shift_Del_p.AE162fs NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 162 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 CAGATTCTGCAGAGATATCACC 0.480 23 172 --- --- --- ---