Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CLOCK 9575 broad.mit.edu 37 4 56325372 56325372 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:56325372C>T uc003haz.1 - 10 1542 c.616G>A c.(616-618)Gag>Aag p.E206K CLOCK_uc003hba.1_Missense_Mutation_p.E206K NM_004898 NP_004889 O15516 CLOCK_HUMAN Homo sapiens clock homolog (mouse) (CLOCK), mRNA. 206 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.E206E(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) GTAGATGGCTCCTTTGGGTCT 0.294000 26 20 0 0 0.012319 0 0 AREG 374 broad.mit.edu 37 4 75312457 75312457 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:75312457G>A uc021xpc.1 + 1 478 c.268G>A c.(268-270)Gaa>Aaa p.E90K NM_001657 NP_001648 P15514 AREG_HUMAN Homo sapiens amphiregulin (AREG), mRNA. 90 G-protein coupled receptor protein signaling pathway|cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|positive regulation of DNA replication cell surface|extracellular space|integral to membrane cytokine activity|growth factor activity lung(4) 4 Lung(101;0.196) GTATGATAACGAACCACAAAT 0.448000 55 39 0 0 0.014410 0 0 BIVM-ERCC5 100533467 broad.mit.edu 37 13 103525627 103525627 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr13:103525627C>T uc001vpu.2 + 21 4382 c.4260C>T c.(4258-4260)ttC>ttT p.F1420F BIVM-ERCC5_uc001vpw.3_Silent_p.F966F NM_001204425 NP_001191354 Q59FZ7 Q59FZ7_HUMAN Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA. 1391 nucleotide-excision repair nucleus endonuclease activity|single-stranded DNA binding AGCGGTATTTCGGCTGGAACA 0.383000 67 44 0 0 0.014410 0 0 ZNF676 163223 broad.mit.edu 37 19 22363491 22363491 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:22363491C>T uc002nqs.1 - 2 1346 c.1028G>A c.(1027-1029)gGg>gAg p.G343E NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G343A(2) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AAAAGCTTTCCCGCATTCTTC 0.408000 43 15 0 0 0.003163 0 0 SASS6 163786 broad.mit.edu 37 1 100587028 100587028 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:100587028G>A uc001dsu.3 - 4 530 c.389C>T c.(388-390)cCt>cTt p.P130L SASS6_uc009wdz.3_5'UTR NM_194292 NP_919268 Q6UVJ0 SAS6_HUMAN Homo sapiens spindle assembly 6 homolog (C. elegans) (SASS6), mRNA. 130 centriole replication centriole p.P130L(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 19 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) ATGCTTAAAAGGATTTGTCTC 0.348000 23 21 0 0 0.008871 0 0 NR3C1 2908 broad.mit.edu 37 5 142689668 142689668 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:142689668G>A uc003lnd.3 - 3 2456 c.1462C>T c.(1462-1464)Ctg>Ttg p.L488L NR3C1_uc003lmy.3_Silent_p.L489L|NR3C1_uc003lmz.3_Silent_p.L153L|NR3C1_uc003lna.3_Silent_p.L488L|NR3C1_uc003lnb.3_Silent_p.L488L|NR3C1_uc011dbk.2_Silent_p.L91L|NR3C1_uc003lnf.3_Silent_p.L489L|NR3C1_uc003lne.3_Silent_p.L488L|NR3C1_uc003lnc.3_Silent_p.L488L|NR3C1_uc021yfa.1_Silent_p.L488L|NR3C1_uc021yfb.1_Silent_p.L488L NM_001018077 NP_001191193 P04150 GCR_HUMAN Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA. 488 Hinge. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) TTACCTTCCAGGTTCATTCCA 0.343000 17 18 0 0 0.008871 0 0 SCAF4 57466 broad.mit.edu 37 21 33057751 33057751 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr21:33057751G>A uc002ypd.2 - 17 2682 c.2256C>T c.(2254-2256)tcC>tcT p.S752S SCAF4_uc002ype.2_Silent_p.S752S|SCAF4_uc010glu.2_Silent_p.S737S|SCAF4_uc002ypf.1_Silent_p.S426S NM_020706 NP_065757 O95104 SFR15_HUMAN Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA. 752 nucleus RNA binding|nucleotide binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GAGGAGGAATGGATACTGGTG 0.453000 54 38 0 0 0.007835 0 0 GRIA3 2892 broad.mit.edu 37 X 122551445 122551445 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:122551445G>A uc004etq.4 + 10 1985 c.1693G>A c.(1693-1695)Gga>Aga p.G565R GRIA3_uc004etr.4_Missense_Mutation_p.G565R|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.G549R NM_007325 NP_015564 P42263 GRIA3_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA. 565 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity p.I564V(1) breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TGCTTACATTGGAGTCAGCGT 0.438000 150 119 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13714710 13714710 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:13714710C>T uc003jfd.2 - 74 12971 c.12929G>A c.(12928-12930)aGc>aAc p.S4310N DNAH5_uc003jfc.2_Missense_Mutation_p.S478N NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4310 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CACCTCAGGGCTGTCATAGGC 0.502000 Kartagener syndrome 23 18 0 0 0.006122 0 0 FAM134A 79137 broad.mit.edu 37 2 220044464 220044464 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:220044464C>T uc002vjw.4 + 2 534 c.398C>T c.(397-399)cCa>cTa p.P133L CNPPD1_uc002vju.4_5'Flank|CNPPD1_uc002vjv.3_5'Flank|FAM134A_uc010fwc.3_5'UTR|FAM134A_uc002vjx.3_5'Flank NM_024293 NP_077269 Q8NC44 F134A_HUMAN Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA. 133 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCATCATCCCCAGAGGAGCCA 0.572000 64 42 0 0 0.014410 0 0 CNTN5 53942 broad.mit.edu 37 11 99932099 99932099 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:99932099C>T uc001pga.3 + 9 1640 c.1136C>T c.(1135-1137)tCc>tTc p.S379F CNTN5_uc009ywv.2_Missense_Mutation_p.S379F|CNTN5_uc001pfz.3_Missense_Mutation_p.S379F|CNTN5_uc021qpb.1_Missense_Mutation_p.S379F|CNTN5_uc021qpc.1_Missense_Mutation_p.S305F NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 379 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GGAAAAAATTCCTTTCGTGGA 0.408000 27 22 0 0 0.012319 0 0 LGALS9 3965 broad.mit.edu 37 17 25970616 25970616 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:25970616C>T uc002gzp.3 + 4 628 c.510C>T c.(508-510)ttC>ttT p.F170F LGALS9_uc002gzq.3_Intron|LGALS9_uc002gzr.3_Intron|LGALS9_uc010waa.2_Silent_p.F113F NM_009587 NP_033665 O00182 LEG9_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA. 170 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity endometrium(3)|large_intestine(2)|lung(12)|skin(1) 18 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) CTGTCTGTTTCCCACCCAGGC 0.607000 23 12 0 0 0.006122 0 0 HSD17B14 51171 broad.mit.edu 37 19 49335008 49335008 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:49335008G>A uc002pkv.1 - 4 552 c.286C>T c.(286-288)Cca>Tca p.P96S HSD17B14_uc010emk.1_Missense_Mutation_p.P96S NM_016246 NP_057330 Q9BPX1 DHB14_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 14 (HSD17B14), mRNA. 96 steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity large_intestine(3)|lung(1)|skin(1) 5 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) GGCCTCTGTGGGGGTGGGTCT 0.622000 48 117 0 0 0.014410 0 0 ERN2 10595 broad.mit.edu 37 16 23703508 23703508 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:23703508G>A uc002dma.4 - 17 2558 c.2389C>T c.(2389-2391)Cac>Tac p.H797Y ERN2_uc010bxp.3_Missense_Mutation_p.H745Y NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 749 KEN. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CCCTCACCGTGGACCTCTTCC 0.612000 67 58 0 0 0.014410 0 0 ZC3H3 23144 broad.mit.edu 37 8 144522294 144522294 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:144522294G>A uc003yyd.2 - 10 2761 c.2732C>T c.(2731-2733)tCc>tTc p.S911F NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA. 911 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GGAGATGAAGGAAGGCAGCTT 0.667000 17 26 0 0 0.004656 0 0 PSMD3 5709 broad.mit.edu 37 17 38142870 38142870 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:38142870G>A uc002htn.1 + 2 618 c.454G>A c.(454-456)Gga>Aga p.G152R PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Missense_Mutation_p.G53R NM_002809 NP_002800 O43242 PSMD3_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA. 152 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) TCCCCGCACGGGAAAAGCTGC 0.507000 99 69 0 0 0.014410 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478632 21478632 + Missense_Mutation SNP A C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:21478632A>C uc003cce.3 - 4 911 c.503T>G c.(502-504)gTt>gGt p.V168G ZNF385D_uc010hfb.1_Non-coding_Transcript NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 168 Thr-rich. nucleus nucleic acid binding|zinc ion binding p.V168I(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 AGTTGTCATAACACTGCTTTT 0.443000 65 41 0 0 0.011902 0 0 IGSF9B 22997 broad.mit.edu 37 11 133789847 133789847 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:133789847G>A uc001qgx.4 - 17 4004 c.3773C>T c.(3772-3774)cCc>cTc p.P1258L NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 1258 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCTCTGGGAGGGGGAGCCTGT 0.692000 33 5 0 0 0.001168 0 0 SENP3 26168 broad.mit.edu 37 17 7467989 7467989 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:7467989C>T uc002ghm.3 + 2 1046 c.763C>T c.(763-765)Cca>Tca p.P255S EIF4A1_uc002gho.2_5'UTR|SENP3_uc002ghn.1_Missense_Mutation_p.P90S NM_015670 NP_056485 Q9H4L4 SENP3_HUMAN Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3), mRNA. 255 proteolysis MLL1 complex|nucleolus cysteine-type peptidase activity central_nervous_system(1)|ovary(1) 2 Prostate(122;0.157) ACAATCTGGGCCAGAAGGGGA 0.587000 39 14 0 0 0.002450 0 0 SCN11A 11280 broad.mit.edu 37 3 38991749 38991749 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:38991749C>T uc021wvy.1 - 0 304 c.105G>A c.(103-105)aaG>aaA p.K35K NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 35 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCTTTTTCTCCTTTTGGATGG 0.512000 75 59 0 0 0.014410 0 0 DSCAM 1826 broad.mit.edu 37 21 41450636 41450636 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr21:41450636G>A uc002yyq.1 - 25 5141 c.4689C>T c.(4687-4689)ttC>ttT p.F1563F DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1563 Fibronectin type-III 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.F1563F(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCAGCGTAGCGAAGTTGGCCT 0.592000 22 12 0 0 0.001855 0 0 SMARCA5 8467 broad.mit.edu 37 4 144457813 144457813 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:144457813C>T uc003ijg.3 + 10 1939 c.1477C>T c.(1477-1479)Cct>Tct p.P493S NM_003601 NP_003592 O60264 SMCA5_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA. 493 Helicase C-terminal. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) CAAGCTGCTCCCTAAGTTAAA 0.378000 12 9 0 0 0.008291 0 0 DENND5A 23258 broad.mit.edu 37 11 9225655 9225656 + Missense_Mutation DNP GG AA AA rs146129513 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:9225655_9225656GG>AA uc001mhl.3 - 3 757_758 c.500_501CC>TT c.(499-501)ccc>cTT p.P167L DENND5A_uc010rbw.2_Missense_Mutation_p.P167L|DENND5A_uc010rbx.2_Non-coding_Transcript NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA. 167 breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CATCAGCAGGGGGAGCATGTAG 0.515000 43 22 0 0 0.004672 0 0 RFX6 222546 broad.mit.edu 37 6 117250008 117250008 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:117250008C>T uc003pxm.3 + 17 2548 c.2485C>T c.(2485-2487)Cgt>Tgt p.R829C NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 829 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CAGCAGCATTCGTTCACTGCC 0.448000 48 35 0 0 0.012213 0 0 C3orf67 200844 broad.mit.edu 37 3 58855130 58855130 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:58855130G>A uc003dkt.1 - 8 973 c.564C>T c.(562-564)gcC>gcT p.A188A C3orf67_uc003dks.1_Silent_p.A3A|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Silent_p.A3A|C3orf67_uc003dkw.3_Silent_p.A96A NM_198463 NP_940865 Q6ZVT6 CC067_HUMAN Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA. 188 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) GTATCAGCAAGGCTGACATTT 0.388000 27 29 0 0 0.007291 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433084 140433084 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140433084C>T uc003lik.1 + 0 2106 c.2029C>T c.(2029-2031)Cca>Tca p.P677S NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 677 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTCCAGGATCCAACCAAGCA 0.448000 69 59 0 0 0.014410 0 0 TCEB3C 162699 broad.mit.edu 37 18 44554577 44554577 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:44554577C>T uc010xdb.2 - 0 1873 c.1637G>A c.(1636-1638)cGa>cAa p.R546Q KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA. 546 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding p.R545*(1)|p.R545R(1) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 CTGAGTTTATCGTCGGGAGAA 0.567000 296 26 0 0 0.012213 0 0 FBXW10 10517 broad.mit.edu 37 17 18653121 18653121 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:18653121G>A uc002gul.3 + 2 989 c.757G>A c.(757-759)Gat>Aat p.D253N FBXW10_uc002guj.3_Missense_Mutation_p.D253N|FBXW10_uc002guk.3_Missense_Mutation_p.D253N|FBXW10_uc010cqh.2_Missense_Mutation_p.D253N NM_031456 NP_113644 Q5XX13 FBW10_HUMAN Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA. 253 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GCCAGGGTACGATCCCTGCAA 0.483000 124 57 0 0 0.014410 0 0 ALB 213 broad.mit.edu 37 4 74283809 74283809 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:74283809C>T uc003hgs.4 + 11 1506 c.1433C>T c.(1432-1434)tCc>tTc p.S478F ALB_uc011cbe.2_Missense_Mutation_p.S157F|ALB_uc003hgw.4_Missense_Mutation_p.S286F|ALB_uc011cbf.2_Missense_Mutation_p.S368F NM_000477 NP_000468 P02768 ALBU_HUMAN Homo sapiens albumin (ALB), mRNA. 478 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding p.S478F(2) NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CTTTAGCTATCCGTGGTCCTG 0.443000 OREG0007698 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ALB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 38 18 0 0 0.006122 0 0 C6orf221 154288 broad.mit.edu 37 6 74073478 74073478 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:74073478C>T uc003pgt.4 + 2 602 c.549C>T c.(547-549)ctC>ctT p.L183L NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA. 183 NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1) 19 AGCAGTCTCTCCAGGCTGCCA 0.667000 20 23 0 0 0.003330 0 0 SMURF2 64750 broad.mit.edu 37 17 62553786 62553786 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:62553786G>A uc002jep.1 - 12 1759 c.1371C>T c.(1369-1371)ttC>ttT p.F457F SMURF2_uc002jeq.1_Silent_p.F216F|SMURF2_uc002jer.1_Silent_p.F216F NM_022739 NP_073576 Q9HAU4 SMUF2_HUMAN Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA. 457 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex SMAD binding|identical protein binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) TTGAATACTGGAAGAGGCCAT 0.333000 50 35 0 0 0.004878 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140256358 140256358 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140256358C>T uc003lic.2 + 0 1428 c.1301C>T c.(1300-1302)tCg>tTg p.S434L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.S434L NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 448 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTCGCCTTCGCTGTGGGCC 0.627000 96 74 0 0 0.014410 0 0 RASD2 23551 broad.mit.edu 37 22 35947777 35947777 + Missense_Mutation SNP G C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:35947777G>C uc003anx.3 + 2 704 c.499G>C c.(499-501)Gcc>Ccc p.A167P RASD2_uc003any.3_Missense_Mutation_p.A167P NM_014310 NP_055125 Q96D21 RHES_HUMAN Homo sapiens RASD family, member 2 (RASD2), mRNA. 167 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 CGAGAACTGCGCCTACTTCGA 0.627000 19 12 0 0 0.013537 0 0 KIAA1432 57589 broad.mit.edu 37 9 5772613 5772613 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:5772613C>T uc003zjl.4 + 22 3746 c.3555C>T c.(3553-3555)tcC>tcT p.S1185S KIAA1432_uc003zji.3_Silent_p.S1143S NM_001206557 NP_001193486 Q4ADV7 RIC1_HUMAN Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA. 1222 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) AAAGTAGCTCCATGGTGGATG 0.428000 6 20 0 0 0.010504 0 0 AX746964 0 broad.mit.edu 37 5 140242880 140242880 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140242880C>T uc003lhy.1 - 0 345 c.96G>A c.(94-96)atG>atA p.M32I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ34090 fis, clone FCBBF3006399; TGTACCTGATCATCGCCATCT 0.652000 17 9 0 0 0.008291 0 0 LOC646813 646813 broad.mit.edu 37 11 50378132 50378132 + RNA SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:50378132G>A uc001nhe.2 + 4 c.762G>A LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA. AGAAGAAGAAGGATAAGGATG 0.398000 24 25 0 0 0.002780 0 0 FAT4 79633 broad.mit.edu 37 4 126373578 126373578 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:126373578C>T uc003ifj.4 + 8 11407 c.11407C>T c.(11407-11409)Cat>Tat p.H3803Y FAT4_uc011cgp.2_Missense_Mutation_p.H2101Y|FAT4_uc003ifi.1_Missense_Mutation_p.H1281Y NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 3803 EGF-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H3803Y(3) 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 ATCTGTGGATCATGACTCCTG 0.483000 32 23 0 0 0.014323 0 0 LARP4 113251 broad.mit.edu 37 12 50867196 50867196 + Splice_Site SNP A G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:50867196A>G uc001rwp.2 + 14 1748 c.1546_splice c.e14-2 p.D516_splice LARP4_uc001rwq.2_Splice_Site_p.D445_splice|LARP4_uc001rwt.2_Splice_Site_p.D374_splice|LARP4_uc001rws.2_Splice_Site_p.D515_splice|LARP4_uc001rwr.2_Splice_Site_p.D445_splice|LARP4_uc021qxv.1_Splice_Site_p.D446_splice|LARP4_uc009zlr.1_Splice_Site_p.D335_splice NM_052879 NP_443111 Q71RC2 LARP4_HUMAN Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA. 516 RNA binding|nucleotide binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 TTTTACTTTAAGGATAATGAA 0.373000 5 19 0 0 0.007413 0 0 SHKBP1 92799 broad.mit.edu 37 19 41086326 41086326 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:41086326C>T uc002oob.3 + 6 546 c.497C>T c.(496-498)cCc>cTc p.P166L SHKBP1_uc002ooc.3_Missense_Mutation_p.P166L|SHKBP1_uc010xvl.1_Missense_Mutation_p.P89L|SHKBP1_uc002ooe.3_Missense_Mutation_p.P3L|SHKBP1_uc010xvm.2_Missense_Mutation_p.P3L|SHKBP1_uc010xvn.2_Missense_Mutation_p.P44L NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA. 166 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACGATGCCCCCCAACCTTGGC 0.627000 45 12 0 0 0.010729 0 0 ISL1 3670 broad.mit.edu 37 5 50687119 50687119 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:50687119G>A uc003jor.3 + 4 1325 c.777G>A c.(775-777)ggG>ggA p.G259G NM_002202 NP_002193 P61371 ISL1_HUMAN Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA. 259 Gln-rich. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) ATATCCAGGGGATGACAGGAA 0.517000 23 15 0 0 0.004990 0 0 LGALS9 3965 broad.mit.edu 37 17 25974412 25974412 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:25974412G>A uc002gzp.3 + 9 993 c.875G>A c.(874-876)cGa>cAa p.R292Q LGALS9_uc002gzq.3_Missense_Mutation_p.R260Q|LGALS9_uc002gzr.3_Missense_Mutation_p.R203Q|LGALS9_uc010waa.2_Intron NM_009587 NP_033665 O00182 LEG9_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA. 292 Beta-galactoside binding 2 (By similarity).|Galectin 2. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity endometrium(3)|large_intestine(2)|lung(12)|skin(1) 18 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) TCTGAGGAGCGAAGTCTGCCC 0.597000 21 15 0 0 0.003163 0 0 SMG1 23049 broad.mit.edu 37 16 18908210 18908210 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:18908210G>A uc002dfm.3 - 1 524 c.161C>T c.(160-162)tCc>tTc p.S54F SMG1_uc010bwb.3_5'UTR NM_015092 NP_055907 Q96Q15 SMG1_HUMAN Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA. 54 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TCCATAAGAGGAAGAACCACC 0.403000 11 10 0 0 0.010729 0 0 EXPH5 23086 broad.mit.edu 37 11 108383806 108383806 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:108383806G>A uc001pkk.3 - 5 2539 c.2428C>T c.(2428-2430)Ctt>Ttt p.L810F EXPH5_uc010rvz.2_Missense_Mutation_p.L654F|EXPH5_uc010rvy.2_Missense_Mutation_p.L622F NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 810 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) ATGAAAGGAAGGGAAGCTGTT 0.378000 74 53 0 0 0.014410 0 0 NPHS1 4868 broad.mit.edu 37 19 36333452 36333452 + Splice_Site SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:36333452C>T uc002oby.3 - 18 2491 c.2335_splice c.e18-1 p.G779_splice NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 779 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane p.G779*(1) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCATCTTCTCCCTGGAGGCCC 0.572000 97 24 0 0 0.014323 0 0 FAM123B 139285 broad.mit.edu 37 X 63410355 63410355 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:63410355C>T uc022byb.1 - 0 2812 c.2812G>A c.(2812-2814)Gga>Aga p.G938R FAM123B_uc004dvo.3_Missense_Mutation_p.G938R NM_152424 NP_689637 Q5JTC6 F123B_HUMAN Homo sapiens family with sequence similarity 123B (FAM123B), mRNA. 938 Poly-Glu. Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(67) NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 225 CTCCATTCTCCTTCTTCCTCC 0.587000 26 33 0 0 0.004289 0 0 CLK2 1196 broad.mit.edu 37 1 155239385 155239385 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:155239385G>A uc001fjy.3 - 2 583 c.293C>T c.(292-294)tCc>tTc p.S98F CLK2_uc001fjw.3_Missense_Mutation_p.S98F|CLK2_uc001fjx.3_5'UTR|CLK2_uc009wqm.3_Missense_Mutation_p.S98F NM_003993 NP_003984 P49760 CLK2_HUMAN Homo sapiens CDC-like kinase 2 (CLK2), mRNA. 98 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ATATTCATAGGAATGCCGATA 0.587000 Other conserved DNA damage response genes 91 123 0 0 0.014410 0 0 HBBP1 3044 broad.mit.edu 37 11 5264433 5264433 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:5264433C>T uc001mag.3 - 1 269 c.53G>A c.(52-54)gGa>gAa p.G18E Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA. AACAGCTTTTCCGAAGGAGAT 0.493000 15 15 0 0 0.004990 0 0 WBP11 51729 broad.mit.edu 37 12 14943565 14943565 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:14943565G>A uc001rci.3 - 9 1295 c.1134C>T c.(1132-1134)tcC>tcT p.S378S NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN Homo sapiens WW domain binding protein 11 (WBP11), mRNA. 378 RNA splicing|mRNA processing|rRNA processing cytoplasm WW domain binding|single-stranded DNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 CATCAGAATGGGATTCCTCTT 0.498000 31 23 0 0 0.002780 0 0 JPH3 57338 broad.mit.edu 37 16 87717753 87717753 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:87717753C>T uc002fkd.3 + 2 1420 c.1166C>T c.(1165-1167)tCc>tTc p.S389F JPH3_uc010vou.1_Non-coding_Transcript NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN Homo sapiens junctophilin 3 (JPH3), mRNA. 389 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding p.T388T(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) CCCAGGACCTCCCACTCTCGG 0.662000 14 12 0 0 0.001855 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291413 141291413 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:141291413C>T uc022cfj.1 - 0 361 c.361G>A c.(361-363)Ggg>Agg p.G121R MAGEC2_uc004fbu.2_Missense_Mutation_p.G121R NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA. 121 cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GTATCCTCCCCTTTCTGGCTG 0.547000 HNSCC(46;0.14) 55 25 0 0 0.007291 0 0 TCRA 0 broad.mit.edu 37 14 22970647 22970647 + Splice_Site SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:22970647C>T uc001wev.3 + 1 59 c.43_splice c.e1+1 p.H15_splice TCRA_uc001wbw.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001weh.1_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc021rqd.1_Splice_Site|ADV21S1A1N_uc021rqe.1_5'Flank|TCRA_uc021rqf.1_5'Flank|TCRA_uc010tmv.2_5'Flank SubName: Full=TRA@ protein; GGTCAAACCCCGTGAGTATCT 0.408000 33 19 0 0 0.007413 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764768 77764768 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:77764768G>A uc003yau.2 + 9 5998 c.5611G>A c.(5611-5613)Gaa>Aaa p.E1871K ZFHX4_uc003yaw.1_Missense_Mutation_p.E1826K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 1826 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACCAAAGCAGGAATTTATAAG 0.433000 HNSCC(33;0.089) 5 7 0 0 0.010729 0 0 FAM163A 148753 broad.mit.edu 37 1 179783102 179783102 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:179783102C>T uc009wxj.3 + 5 741 c.282C>T c.(280-282)caC>caT p.H94H FAM163A_uc001gnj.3_Silent_p.H94H|FAM163A_uc009wxk.3_Silent_p.H94H NM_173509 NP_775780 Q96GL9 F163A_HUMAN Homo sapiens family with sequence similarity 163, member A (FAM163A), mRNA. 94 integral to membrane endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1) 15 CCGCGAGCCACTGCACTACCT 0.657000 26 38 0 0 0.014410 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52991400 52991400 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:52991400G>A uc001cty.2 - 1 806 c.553C>T c.(553-555)Cca>Tca p.P185S ZCCHC11_uc001ctx.2_Missense_Mutation_p.P185S|ZCCHC11_uc009vze.1_Missense_Mutation_p.P185S|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.3_Missense_Mutation_p.P185S|ZCCHC11_uc001cuc.2_Non-coding_Transcript|ZCCHC11_uc001cud.3_Missense_Mutation_p.P185S NM_001009881 NP_001009881 Q5TAX3 TUT4_HUMAN Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA. 185 RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance cytoplasm|nucleolus RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 AAGGAGCTTGGAATTTTTTTT 0.408000 110 62 0 0 0.014410 0 0 MET 4233 broad.mit.edu 37 7 116436101 116436101 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:116436101C>T uc003vij.3 + 20 4283 c.4096C>T c.(4096-4098)Cct>Tct p.P1366S MET_uc010lkh.3_Missense_Mutation_p.P1384S|MET_uc011knj.2_Missense_Mutation_p.P936S NM_000245 NP_000236 P08581 MET_HUMAN Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA. 1366 Interaction with RANBP9. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CGCTCCGTATCCTTCTCTGTT 0.468000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 80 54 0 0 0.014410 0 0 WDR45L 56270 broad.mit.edu 37 17 80579641 80579641 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:80579641G>A uc002kfq.3 - 5 657 c.462C>T c.(460-462)tcC>tcT p.S154S WDR45L_uc002kfr.3_Non-coding_Transcript NM_019613 NP_062559 Q5MNZ6 WIPI3_HUMAN Homo sapiens WDR45-like (WDR45L), mRNA. 154 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 12 Breast(20;0.00106)|all_neural(118;0.0952) all_cancers(8;0.101)|all_epithelial(8;0.198) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835) AGGCCAGGAGGGAGTTGTTAC 0.572000 17 5 0 0 0.001984 0 0 OR4C6 219432 broad.mit.edu 37 11 55433566 55433566 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:55433566G>A uc010rik.2 + 0 924 c.924G>A c.(922-924)ggG>ggA p.G308G NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA. 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CTTTGGCTGGGAAATAACTGC 0.423000 14 10 0 0 0.006214 0 0 UBXN10 127733 broad.mit.edu 37 1 20517684 20517684 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:20517684G>A uc001bdb.3 + 1 714 c.630G>A c.(628-630)agG>agA p.R210R UBXN10_uc021oia.1_Silent_p.R210R NM_152376 NP_689589 Q96LJ8 UBX10_HUMAN Homo sapiens UBX domain protein 10 (UBXN10), mRNA. 210 UBX. endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 CAGGCCAAAGGTTTGTACGCC 0.488000 49 35 0 0 0.006230 0 0 CGNL1 84952 broad.mit.edu 37 15 57731076 57731076 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:57731076C>T uc010bfw.3 + 2 1072 c.879C>T c.(877-879)tcC>tcT p.S293S CGNL1_uc002aeg.3_Silent_p.S293S NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 293 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GAGCTCGGTCCCGGAGGTCCT 0.562000 10 15 0 0 0.004990 0 0 LRP6 4040 broad.mit.edu 37 12 12311842 12311842 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:12311842G>A uc001rah.4 - 11 2854 c.2712C>T c.(2710-2712)tgC>tgT p.C904C BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.C904C NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 904 EGF-like 3. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GCACAGCCAAGCAGAGGTGGG 0.507000 307 171 0 0 0.014410 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18776907 18776907 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:18776907G>A uc003zne.4 + 18 2832 c.2680G>A c.(2680-2682)Gcg>Acg p.A894T NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA. 894 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CCCCAAGACGGCGGTGGTGCT 0.682000 0 14 0 0 0.002450 0 0 LRP1B 53353 broad.mit.edu 37 2 141773412 141773412 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:141773412C>T uc002tvj.1 - 12 3015 c.2043G>A c.(2041-2043)atG>atA p.M681I LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 681 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGAATCCATCCATCCAGGCCT 0.418000 TSP Lung(27;0.18) 37 19 0 0 0.014323 0 0 PRLR 5618 broad.mit.edu 37 5 35065416 35065416 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:35065416C>T uc003jjm.3 - 9 2203 c.1644G>A c.(1642-1644)aaG>aaA p.K548K PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Silent_p.K447K|PRLR_uc021xxl.1_3'UTR NM_000949 NP_000940 P16471 PRLR_HUMAN Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA. 548 T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CCCCGGACACCTTGGCATACT 0.493000 26 35 0 0 0.003755 0 0 DHX58 79132 broad.mit.edu 37 17 40260089 40260089 + Missense_Mutation SNP T A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:40260089T>A uc002hyw.3 - 6 939 c.716A>T c.(715-717)cAa>cTa p.Q239L DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Missense_Mutation_p.Q232L NM_024119 NP_077024 Q96C10 DHX58_HUMAN Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA. 239 innate immune response cytoplasm ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GTCATGGATTTGGTCCATGAG 0.562000 54 39 0 0 0.009718 0 0 PPFIA4 8497 broad.mit.edu 37 1 203020942 203020942 + Silent SNP A T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:203020942A>T uc009xaj.3 + 17 2010 c.2010A>T c.(2008-2010)acA>acT p.T670T PPFIA4_uc010pqf.2_Silent_p.T226T|PPFIA4_uc001gyz.3_Silent_p.T13T|PPFIA4_uc001gza.3_Silent_p.T13T O75335 LIPA4_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA. 13 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 CCCTGGGCACAACCACACACG 0.637000 18 15 0 0 0.004007 0 0 SEC14L4 284904 broad.mit.edu 37 22 30887961 30887961 + Splice_Site SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:30887961C>T uc003aid.2 - 10 872 c.772_splice c.e10-1 p.I258_splice SEC14L4_uc011akz.1_Splice_Site_p.I258_splice|SEC14L4_uc003aie.2_Splice_Site_p.I243_splice|SEC14L4_uc003aif.2_Splice_Site_p.I204_splice NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA. 258 GOLD. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) CATAGTTGATCTGTGGGTGAA 0.617000 35 24 0 0 0.005443 0 0 CD163 9332 broad.mit.edu 37 12 7640090 7640090 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:7640090C>T uc001qsz.3 - 7 2043 c.1915G>A c.(1915-1917)Gga>Aga p.G639R CD163_uc001qta.3_Missense_Mutation_p.G639R|CD163_uc009zfw.2_Missense_Mutation_p.G672R NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 639 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TTTCCTTTTCCAAAACGTGCT 0.483000 73 38 0 0 0.009718 0 0 GRIN2A 2903 broad.mit.edu 37 16 9862791 9862791 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:9862791C>T uc010uym.2 - 12 2822 c.2512G>A c.(2512-2514)Gag>Aag p.E838K GRIN2A_uc002czo.4_Missense_Mutation_p.E838K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E681K|GRIN2A_uc002czr.4_Missense_Mutation_p.E838K NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 838 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAGAGGTGCTCCCAGATGAAG 0.592000 30 27 0 0 0.003954 0 0 LRRC42 115353 broad.mit.edu 37 1 54418140 54418140 + Silent SNP A G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:54418140A>G uc001cwj.1 + 1 668 c.468A>G c.(466-468)cgA>cgG p.R156R LRRC42_uc001cwk.1_Silent_p.R156R NM_052940 NP_443172 Q9Y546 LRC42_HUMAN Homo sapiens leucine rich repeat containing 42 (LRRC42), transcript variant 2, mRNA. 156 breast(2)|kidney(1)|large_intestine(1)|lung(5) 9 TGTGTTTGCGAAACAGGTGGG 0.478000 30 15 0 0 0.003163 0 0 NOVA1 4857 broad.mit.edu 37 14 26918122 26918122 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:26918122C>T uc001wqa.3 - 5 987 c.201G>A c.(199-201)aaG>aaA p.K67K NOVA1_uc001wpy.3_Silent_p.K189K|NOVA1_uc001wpz.3_Silent_p.K165K NM_002515 NP_002506 P51513 NOVA1_HUMAN Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA. 192 KH 1. RNA splicing|locomotory behavior|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TAGCACCTCCCTTCCCTATTA 0.423000 59 38 0 0 0.010771 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145770964 145770964 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:145770964G>A uc003zds.1 - 6 2745 c.2190C>T c.(2188-2190)ccC>ccT p.P730P ARHGAP39_uc011llk.1_Silent_p.P730P|ARHGAP39_uc003zdt.1_Silent_p.P730P NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA. 730 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TCACGATCATGGGCTTCTTGA 0.617000 36 44 0 0 0.008740 0 0 ATF6B 1388 broad.mit.edu 37 6 32085370 32085370 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:32085370G>A uc003nzn.3 - 12 1559 c.1526C>T c.(1525-1527)tCc>tTc p.S509F TNXB_uc010jts.1_5'UTR|ATF6B_uc003nzm.1_Missense_Mutation_p.S82F|ATF6B_uc003nzo.3_Missense_Mutation_p.S506F|ATF6B_uc003nzp.1_Missense_Mutation_p.S198F NM_004381 NP_004372 Q99941 ATF6B_HUMAN Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA. 509 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 ACACCTCAGGGACTCAGTGCG 0.602000 96 118 0 0 0.014410 0 0 KRTAP9-4 85280 broad.mit.edu 37 17 39406235 39406235 + Missense_Mutation SNP C A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:39406235C>A uc002hwi.3 + 0 297 c.263C>A c.(262-264)tCc>tAc p.S88Y NM_033191 NP_149461 Q9BYQ2 KRA94_HUMAN Homo sapiens keratin associated protein 9-4 (KRTAP9-4), mRNA. 88 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament p.G87R(2) breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TGCTGTGGGTCCAGCTGTGAC 0.597000 68 45 6.57855e-14 6.88924e-14 0.009718 1 0 GPR141 353345 broad.mit.edu 37 7 37780780 37780780 + Missense_Mutation SNP T C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:37780780T>C uc003tfm.1 + 0 785 c.785T>C c.(784-786)gTt>gCt p.V262A BC043356_uc003tfl.3_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA. 262 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AACAGCAAGGTTGCATTTTAT 0.378000 51 42 0 0 0.008740 0 0 FAM71F1 84691 broad.mit.edu 37 7 128356957 128356957 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:128356957C>T uc003vno.1 + 1 393 c.340C>T c.(340-342)Ccc>Tcc p.P114S FAM71F1_uc010llo.1_Missense_Mutation_p.P15S|FAM71F1_uc011koq.1_Missense_Mutation_p.P38L|FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.P35L|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Missense_Mutation_p.P114S NM_032599 NP_115988 Q96KD3 F71F1_HUMAN Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA. 114 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 CCTGCCCCTCCCCAACATCCT 0.567000 19 18 0 0 0.006122 0 0 KCND2 3751 broad.mit.edu 37 7 119914791 119914791 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:119914791G>A uc003vjj.1 + 0 1070 c.105G>A c.(103-105)agG>agA p.R35R NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 35 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGCAGGAGAGGAAAAGGACCC 0.637000 149 80 0 0 0.014410 0 0 ZNF28 7576 broad.mit.edu 37 19 53303922 53303922 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:53303922G>A uc002qad.3 - 3 1333 c.1176C>T c.(1174-1176)ttC>ttT p.F392F ZNF28_uc002qac.3_Silent_p.F338F|ZNF28_uc010eqe.3_Silent_p.F338F|ZNF28_uc021uza.1_Silent_p.F339F NM_006969 NP_008900 P17035 ZNF28_HUMAN Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA. 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G392C(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ATTTGCGACTGAAAACTTTTT 0.383000 107 27 0 0 0.003954 0 0 RASEF 158158 broad.mit.edu 37 9 85607903 85607903 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:85607903C>T uc004amo.1 - 14 2219 c.1958G>A c.(1957-1959)gGa>gAa p.G653E NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA. 653 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm GTP binding|calcium ion binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 AGCCTTGTTTCCTACCAGCAT 0.483000 8 39 0 0 0.004289 0 0 FAM22G 441457 broad.mit.edu 37 9 99691310 99691310 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:99691310G>A uc022bkp.1 + 0 25 c.4G>A c.(4-6)Gct>Act p.A2T FAM22G_uc004awq.2_Missense_Mutation_p.A2T NM_001170741 NP_001164212 Q5VZR2 FA22G_HUMAN Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA. 2 central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1) 17 Acute lymphoblastic leukemia(62;0.0527) TGAGGGGATGGCTTCAAATGG 0.537000 20 51 0 0 0.014410 0 0 PLCXD2 257068 broad.mit.edu 37 3 111432890 111432890 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:111432890C>T uc003dya.3 + 2 1351 c.781C>T c.(781-783)Cat>Tat p.H261Y PLCXD2_uc003dxz.3_Missense_Mutation_p.H261Y NM_001185106 NP_001172035 Q0VAA5 PLCX2_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA. 261 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity p.H261Q(2) endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 GGGCTCCTTCCATGTCTCCCA 0.557000 28 18 0 0 0.008871 0 0 TAL1 6886 broad.mit.edu 37 1 47685844 47685844 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:47685844G>A uc001cqx.2 - 3 1121 c.544C>T c.(544-546)Ccc>Tcc p.P182S TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.P182S NM_003189 NP_003180 P17542 TAL1_HUMAN Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA. 182 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 TTGGTGTGGGGACCTGGAGAT 0.552000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 13 11 0 0 0.010729 0 0 LCMT1 51451 broad.mit.edu 37 16 25172473 25172473 + Nonsense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:25172473C>T uc002dnx.1 + 5 675 c.517C>T c.(517-519)Cga>Tga p.R173* LCMT1_uc002dny.1_Intron NM_016309 NP_057393 Q9UIC8 LCMT1_HUMAN Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA. 173 S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) AGCAGATCTCCGAGACCTGTC 0.348000 7 5 0 0 0.000602 0 0 SPTLC3 55304 broad.mit.edu 37 20 13098186 13098186 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:13098186C>T uc002wod.1 + 7 1255 c.966C>T c.(964-966)atC>atT p.I322I NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA. 322 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) TGCCCCAGATCATAGCTCTAA 0.507000 115 64 0 0 0.014410 0 0 BRDT 676 broad.mit.edu 37 1 92446853 92446853 + Silent SNP A G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:92446853A>G uc001dol.4 + 11 2197 c.1779A>G c.(1777-1779)gaA>gaG p.E593E BRDT_uc010osz.2_Silent_p.E597E|BRDT_uc001dok.4_Silent_p.E593E|BRDT_uc009wdf.3_Silent_p.E520E|BRDT_uc010otb.2_Silent_p.E547E|BRDT_uc010ota.2_Silent_p.E547E|BRDT_uc001dom.4_Silent_p.E593E NM_001242805 NP_001229734 Q58F21 BRDT_HUMAN Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA. 593 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity p.E592Q(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) CCAAAGAAGAACTTCACTCAC 0.328000 29 21 0 0 0.012319 0 0 CNGA2 1260 broad.mit.edu 37 X 150912755 150912755 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:150912755G>A uc004fey.1 + 6 2004 c.1780G>A c.(1780-1782)Gag>Aag p.E594K NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 594 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) AACCAGCATGGAGGTCGACGT 0.577000 100 54 0 0 0.014410 0 0 TECTA 7007 broad.mit.edu 37 11 121008491 121008491 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:121008491C>T uc010rzo.2 + 9 3303 c.3303C>T c.(3301-3303)atC>atT p.I1101I NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 1101 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCTCCTGCATCGTCTCAGGCT 0.587000 24 22 0 0 0.010504 0 0 UROC1 131669 broad.mit.edu 37 3 126220660 126220660 + Missense_Mutation SNP A G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:126220660A>G uc010hsi.2 - 9 1088 c.1034T>C c.(1033-1035)tTc>tCc p.F345S UROC1_uc003eiz.2_Intron NM_001165974 NP_001159446 Q96N76 HUTU_HUMAN Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA. 0 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) TGGCCTGGAGAAGCCCGAGGG 0.587000 48 26 0 0 0.008361 0 0 ADH4 127 broad.mit.edu 37 4 100057678 100057678 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:100057678C>T uc003hun.3 - 4 597 c.521G>A c.(520-522)aGa>aAa p.R174K LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.R193K NM_000670 NP_000661 P08319 ADH4_HUMAN Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA. 174 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) CAGACAAACTCTCTCTAAATT 0.388000 41 24 0 0 0.004656 0 0 DNAH2 146754 broad.mit.edu 37 17 7663240 7663240 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:7663240C>T uc002giu.1 + 15 2783 c.2769C>T c.(2767-2769)ccC>ccT p.P923P NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 923 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ATCGTGAACCCATCCAAACAG 0.562000 117 77 0 0 0.014410 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81066066 81066066 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:81066066C>T uc001kaf.2 + 21 3205 c.2633C>T c.(2632-2634)cCa>cTa p.P878L ZMIZ1_uc001kag.2_Missense_Mutation_p.P754L|ZMIZ1_uc010qlq.1_Missense_Mutation_p.P31L NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA. 878 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CCGCCTCCCCCAGGGGGCACC 0.642000 7 32 0 0 0.009535 0 0 TRPC4 7223 broad.mit.edu 37 13 38266349 38266349 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr13:38266349G>A uc010abx.3 - 3 1256 c.1021C>T c.(1021-1023)Cct>Tct p.P341S TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.P341S|TRPC4_uc001uws.3_Missense_Mutation_p.P341S|TRPC4_uc010tey.2_Missense_Mutation_p.P341S|TRPC4_uc010abw.3_Missense_Mutation_p.P168S|TRPC4_uc010aby.3_Missense_Mutation_p.P341S NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 341 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GAGAAGACAGGAAAAAGAAGT 0.473000 21 12 0 0 0.013537 0 0 FAM118A 55007 broad.mit.edu 37 22 45719147 45719147 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:45719147C>T uc003bfz.4 + 3 755 c.139C>T c.(139-141)Cct>Tct p.P47S FAM118A_uc003bga.4_Missense_Mutation_p.P47S NM_001104595 NP_060381 Q9NWS6 F118A_HUMAN Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA. 47 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CCCCGGAATCCCTGCCCTTTG 0.597000 29 17 0 0 0.004990 0 0 TMEM108 66000 broad.mit.edu 37 3 133099648 133099648 + Missense_Mutation SNP G A A rs79118437 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:133099648G>A uc003epi.3 + 3 1363 c.1093G>A c.(1093-1095)Gat>Aat p.D365N TMEM108_uc003eph.3_Missense_Mutation_p.D365N|TMEM108_uc003epj.1_Missense_Mutation_p.D365N|TMEM108_uc003epk.3_Intron NM_001136469 NP_076432 Q6UXF1 TM108_HUMAN Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA. 365 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 AGCTGCCTTCGATACCAGTGT 0.592000 31 27 0 0 0.006320 0 0 OR11L1 391189 broad.mit.edu 37 1 248004495 248004495 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:248004495C>T uc001idn.1 - 0 704 c.704G>A c.(703-705)aGa>aAa p.R235K NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA. 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R234Q(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AAAGGTCTTTCTCCGGCCAGA 0.507000 49 29 0 0 0.007291 0 0 FAM75A2 642265 broad.mit.edu 37 9 39888169 39888169 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:39888169G>A uc004abp.3 + 3 1185 c.1156G>A c.(1156-1158)Gga>Aga p.G386R NM_001040065 NP_001035154 Q5RGS2 F75A2_HUMAN Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA. 386 integral to membrane p.M385I(1) lung(4)|skin(1)|upper_aerodigestive_tract(1) 6 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CTGGAACATGGGAGAGAACTC 0.473000 34 83 0 0 0.014410 0 0 LRFN1 57622 broad.mit.edu 37 19 39804582 39804582 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:39804582G>A uc002okw.2 - 0 1395 c.1395C>T c.(1393-1395)tcC>tcT p.S465S NM_020862 NP_065913 Q9P244 LRFN1_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA. 465 Fibronectin type-III. cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TGTAGACGAGGGAGTCATCAA 0.632000 80 9 0 0 0.006214 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 7 51 0 0 0.014410 0 0 OR1E1 8387 broad.mit.edu 37 17 3301279 3301279 + Silent SNP G A A rs144699002 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:3301279G>A uc002fvj.1 - 0 426 c.426C>T c.(424-426)ctC>ctT p.L142L NM_003553 NP_003544 P30953 OR1E1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA. 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 CCACCAGGGCGAGACAGAGCA 0.572000 OREG0007321 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR1E1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 31 19 0 0 0.014323 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480495 140480495 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140480495G>A uc003lio.3 + 0 262 c.262G>A c.(262-264)Gag>Aag p.E88K BC016751_uc003lin.3_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 88 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCCTGAATGAGAAATTGGA 0.488000 57 39 0 0 0.006999 0 0 FGD5 152273 broad.mit.edu 37 3 14905670 14905670 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:14905670C>T uc003bzc.3 + 1 2671 c.2561C>T c.(2560-2562)tCg>tTg p.S854L FGD5_uc011avk.2_Missense_Mutation_p.S854L NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 854 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TGTCCCATCTCGTCGGCAGCC 0.532000 48 24 0 0 0.014323 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679273 37679273 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr13:37679273C>T uc001uwm.1 - 0 529 c.121G>A c.(121-123)Gag>Aag p.E41K NM_145203 NP_660204 Q8N752 KC1AL_HUMAN Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA. 41 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity p.G40G(1)|p.G40S(1) NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) GCTACGTCCTCGCCGTTGGTG 0.537000 44 27 0 0 0.005443 0 0 ZNF839 55778 broad.mit.edu 37 14 102792356 102792356 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:102792356G>A uc010awk.1 + 1 330 c.323G>A c.(322-324)gGa>gAa p.G108E ZNF839_uc001ylo.2_5'UTR|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_5'UTR|ZNF839_uc001ylr.2_5'UTR NM_018335 NP_060805 A8K0R7 ZN839_HUMAN Homo sapiens zinc finger protein 839 (ZNF839), mRNA. 0 Poly-Ser. intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GTAACGTCTGGAGAAACAAAA 0.478000 13 13 0 0 0.013537 0 0 CSF2RB 1439 broad.mit.edu 37 22 37325507 37325507 + Nonsense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:37325507G>A uc003aqa.4 + 4 672 c.455G>A c.(454-456)tGg>tAg p.W152* CSF2RB_uc003aqc.4_Nonsense_Mutation_p.W152* NM_000395 NP_000386 P32927 IL3RB_HUMAN Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA. 152 Fibronectin type-III 1. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) CTGCTGACCTGGAGTGTGGCC 0.617000 51 51 0 0 0.014410 0 0 FAT2 2196 broad.mit.edu 37 5 150947900 150947900 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:150947900G>A uc003lue.4 - 0 606 c.593C>T c.(592-594)cCc>cTc p.P198L FAT2_uc010jhx.1_Missense_Mutation_p.P198L NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 198 Cadherin 2. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCGCTGGTGGGATGGATGGC 0.532000 50 34 0 0 0.003271 0 0 MOV10L1 54456 broad.mit.edu 37 22 50563824 50563824 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:50563824C>T uc003bjj.3 + 10 1656 c.1573C>T c.(1573-1575)Ctg>Ttg p.L525L MOV10L1_uc003bjk.4_Silent_p.L525L|MOV10L1_uc011arp.2_Silent_p.L505L|MOV10L1_uc011arq.1_Silent_p.L286L|MOV10L1_uc010hao.1_Non-coding_Transcript NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 525 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding p.L525L(2)|p.L505L(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TTTCCAGCTTCTGAACATGTC 0.438000 32 21 0 0 0.010504 0 0 OR52L1 338751 broad.mit.edu 37 11 6007845 6007845 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:6007845G>A uc001mcd.2 - 0 371 c.316C>T c.(316-318)Cat>Tat p.H106Y NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA. 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F106F(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCGTGGGCATGAACCAGGAGC 0.547000 14 14 0 0 0.004007 0 0 BMP7 655 broad.mit.edu 37 20 55777679 55777679 + Splice_Site SNP C T T rs142693632 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:55777679C>T uc010gip.1 - 3 1141 c.612_splice c.e3-1 p.R204_splice BMP7_uc002xyc.3_Splice_Site_p.R204_splice NM_001719 NP_001710 P18075 BMP7_HUMAN Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA. 204 BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) GATCCGATTCCCTGCGAGAGA 0.622000 27 20 0 0 0.008871 0 0 CHRNA1 1134 broad.mit.edu 37 2 175618462 175618462 + Missense_Mutation SNP C T T rs145421881 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:175618462C>T uc002ujd.2 - 6 700 c.622G>A c.(622-624)Gac>Aac p.D208N BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.D183N|CHRNA1_uc002ujf.4_Missense_Mutation_p.D183N NM_001039523 NP_001034612 P02708 ACHA_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA. 208 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 TCTGGCTGGTCGCTTTCCTGA 0.572000 12 7 0 0 0.003080 0 0 CDH19 28513 broad.mit.edu 37 18 64172126 64172126 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:64172126C>T uc002lkc.1 - 11 2380 c.2242G>A c.(2242-2244)Gat>Aat p.D748N CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_3'UTR NM_021153 NP_066976 Q9H159 CAD19_HUMAN Homo sapiens cadherin 19, type 2 (CDH19), mRNA. 748 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TTAAGGTAATCATAGCTTTCA 0.413000 25 20 0 0 0.007413 0 0 FRMD7 90167 broad.mit.edu 37 X 131216398 131216398 + Missense_Mutation SNP G A A rs139411571 byFrequency TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:131216398G>A uc004ewn.3 - 8 1076 c.898C>T c.(898-900)Cgc>Tgc p.R300C FRMD7_uc022cdy.1_Missense_Mutation_p.R180C|FRMD7_uc011muy.2_Missense_Mutation_p.R285C NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN Homo sapiens FERM domain containing 7 (FRMD7), mRNA. 300 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TACCTATAGCGGAAACTGGAA 0.438000 253 172 0 0 0.014410 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20488820 20488820 + RNA SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:20488820C>T uc001ytf.1 + 1 c.303C>T Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA. GAACCCCCACCTGCTTGGCTC 0.423000 87 15 0 0 0.003163 0 0 ARNT 405 broad.mit.edu 37 1 150812125 150812125 + Missense_Mutation SNP T C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:150812125T>C uc001evr.2 - 5 479 c.278A>G c.(277-279)aAt>aGt p.N93S ARNT_uc001evs.2_Missense_Mutation_p.N78S|ARNT_uc009wmd.2_Missense_Mutation_p.N78S|ARNT_uc009wmb.2_Missense_Mutation_p.N84S|ARNT_uc009wmc.2_Missense_Mutation_p.N93S|ARNT_uc009wme.2_Missense_Mutation_p.N93S|ARNT_uc010pcl.2_Missense_Mutation_p.N77S NM_001668 NP_001659 P27540 ARNT_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA. 93 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TTCACTGTGATTTTCCCTGCA 0.498000 T ETV6 AML 6 21 0 0 0.010504 0 0 SENP1 29843 broad.mit.edu 37 12 48458952 48458952 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:48458952G>A uc001rqx.3 - 11 1617 c.1171C>T c.(1171-1173)Cgt>Tgt p.R391C SENP1_uc001rqw.3_Missense_Mutation_p.R391C|SENP1_uc001rqy.3_Missense_Mutation_p.R192C|SENP1_uc001rqz.3_Missense_Mutation_p.R192C|SENP1_uc009zkx.3_Missense_Mutation_p.R391C NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA. 391 activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus SUMO-specific protease activity|endopeptidase activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) AGAGGTACACGAAGATGTAGT 0.358000 16 11 0 0 0.008291 0 0 MYH11 4629 broad.mit.edu 37 16 15931898 15931898 + Missense_Mutation SNP A T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:15931898A>T uc002ddx.3 - 1 319 c.212T>A c.(211-213)gTt>gAt p.V71D MYH11_uc002ddv.3_Missense_Mutation_p.V71D|MYH11_uc002ddw.3_Missense_Mutation_p.V71D|MYH11_uc002ddy.3_Missense_Mutation_p.V71D|MYH11_uc010bvg.3_5'UTR|MYH11_uc002deb.3_Missense_Mutation_p.V71D NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 71 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 ATCTTTCCCAACCGTGACCTT 0.572000 T CBFB AML 111 81 0 0 0.014410 0 0 SCN11A 11280 broad.mit.edu 37 3 38968362 38968362 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:38968362G>A uc021wvy.1 - 3 748 c.549C>T c.(547-549)ttC>ttT p.F183F NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 183 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CATCCAGAATGAAACCTCTTG 0.343000 59 33 0 0 0.009535 0 0 PCLO 27445 broad.mit.edu 37 7 82582113 82582113 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:82582113C>T uc003uhx.2 - 4 8445 c.8156G>A c.(8155-8157)gGa>gAa p.G2719E PCLO_uc003uhv.2_Missense_Mutation_p.G2719E|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2650 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGCAATTTTCCATCTTCTTT 0.373000 14 15 0 0 0.003163 0 0 FAM83B 222584 broad.mit.edu 37 6 54804573 54804573 + Silent SNP C T T rs142915319 byFrequency TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:54804573C>T uc003pck.3 + 4 920 c.804C>T c.(802-804)tcC>tcT p.S268S NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 268 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTGTTGAGTCCTTTGATGAAG 0.403000 38 31 0 0 0.003271 0 0 ASH1L 55870 broad.mit.edu 37 1 155450917 155450917 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:155450917G>A uc009wqq.3 - 2 2224 c.1744C>T c.(1744-1746)Cca>Tca p.P582S ASH1L_uc001fkt.3_Missense_Mutation_p.P582S|ASH1L_uc009wqr.1_Missense_Mutation_p.P582S NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA. 582 DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|chromosome|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AAAAGTAATGGATTAGGAGCC 0.403000 56 21 0 0 0.008871 0 0 ANKRD30BL 554226 broad.mit.edu 37 2 132905792 132905792 + RNA SNP G C C rs143919579 by1000genomes TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:132905792G>C uc002tti.3 - 6 c.1099C>G ANKRD30BL_uc002ttj.3_Non-coding_Transcript Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA. p.S230C(2) endometrium(1)|kidney(3) 4 TGTTCCTTCAGATGTTCCTTC 0.443000 17 3 0 0 0.000602 0 0 MYOCD 93649 broad.mit.edu 37 17 12649307 12649307 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:12649307C>T uc002gno.2 + 8 1342 c.1043C>T c.(1042-1044)cCt>cTt p.P348L MYOCD_uc002gnn.2_Missense_Mutation_p.P348L|MYOCD_uc002gnp.1_Missense_Mutation_p.P252L|MYOCD_uc002gnq.2_Missense_Mutation_p.P67L NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 348 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCCTTGTCTCCTGTCAAAAAC 0.428000 58 63 0 0 0.014410 0 0 VWA5A 4013 broad.mit.edu 37 11 124012361 124012361 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:124012361G>A uc001pzu.3 + 15 2145 c.1936G>A c.(1936-1938)Gaa>Aaa p.E646K VWA5A_uc001pzt.3_Missense_Mutation_p.E646K NM_001130142 NP_055437 O00534 VMA5A_HUMAN Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA. 646 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 GCCCAGAGGGGAACTTATGTG 0.473000 49 24 0 0 0.004656 0 0 DNAH1 25981 broad.mit.edu 37 3 52428618 52428618 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:52428618C>T uc011bef.2 + 66 11025 c.10764C>T c.(10762-10764)tcC>tcT p.S3588S DNAH1_uc003ddv.3_Silent_p.S446S NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 3653 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCTTCTCTTCCGACTTCGTGA 0.577000 27 14 0 0 0.001855 0 0 SLC25A52 147407 broad.mit.edu 37 18 29340161 29340161 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:29340161G>A uc002kxa.2 - 0 683 c.464C>T c.(463-465)aCc>aTc p.T155I NM_001034172 NP_001029344 Q3SY17 MCAR2_HUMAN Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA. 155 transport integral to membrane|mitochondrial inner membrane ATAAGTGTTGGTAAATTTGTC 0.463000 56 47 0 0 0.011902 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570536 47570536 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:47570536G>A uc002pga.4 - 14 3027 c.2989C>T c.(2989-2991)Ccc>Tcc p.P997S ZC3H4_uc002pgb.1_Non-coding_Transcript NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA. 997 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GCGGGCACGGGGGGCACTGCG 0.736000 138 35 0 0 0.003755 0 0 OR14A16 284532 broad.mit.edu 37 1 247978792 247978792 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:247978792G>A uc001idm.1 - 0 240 c.240C>T c.(238-240)atC>atT p.I80I NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA. 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I80I(2) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 AAGAATTGGCGATAGATTTGG 0.443000 26 28 0 0 0.004656 0 0 CYP4F3 4051 broad.mit.edu 37 19 15752390 15752390 + Silent SNP G A A rs150573744 byFrequency TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:15752390G>A uc010xok.2 + 1 215 c.165G>A c.(163-165)ccG>ccA p.P55P CYP4F3_uc010xol.2_Silent_p.P55P|CYP4F3_uc002nbj.3_Silent_p.P55P|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Silent_p.P55P NM_001199208 NP_001186137 Q08477 CP4F3_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA. 55 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CGCAACCCCCGAAACGGAATT 0.617000 41 29 0 0 0.009535 0 0 AICDA 57379 broad.mit.edu 37 12 8757440 8757440 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:8757440G>A uc001qur.2 - 3 585 c.506C>T c.(505-507)tCa>tTa p.S169L AICDA_uc001qup.1_Missense_Mutation_p.S154L|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA. 169 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1) 16 Lung SC(5;0.184) GAGACGAACTGAATTTTCATG 0.378000 91 69 0 0 0.014410 0 0 NKIRAS1 28512 broad.mit.edu 37 3 23952324 23952324 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:23952324G>A uc003ccj.3 - 2 474 c.72C>T c.(70-72)ctC>ctT p.L24L NKIRAS1_uc003cck.3_Silent_p.L24L NM_020345 NP_065078 Q9NYS0 KBRS1_HUMAN Homo sapiens NFKB inhibitor interacting Ras-like 1 (NKIRAS1), mRNA. 24 I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 7 TTCCATAAAGGAGCTGCTCCA 0.418000 12 11 0 0 0.008291 0 0 FCRL4 83417 broad.mit.edu 37 1 157567718 157567718 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:157567718G>A uc001fqw.3 - 0 153 c.17C>T c.(16-18)tCc>tTc p.S6F FCRL4_uc010phy.2_Non-coding_Transcript NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Homo sapiens Fc receptor-like 4 (FCRL4), mRNA. 6 integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GGCCAGCAAGGACGCCCACAG 0.547000 16 20 0 0 0.012319 0 0 CTCFL 140690 broad.mit.edu 37 20 56094368 56094368 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:56094368G>A uc010giw.1 - 3 931 c.820C>T c.(820-822)Cgt>Tgt p.R274C CTCFL_uc010gix.1_Missense_Mutation_p.R274C|CTCFL_uc002xym.2_Missense_Mutation_p.R274C|CTCFL_uc010gjb.1_Missense_Mutation_p.R274C|CTCFL_uc010gja.1_Missense_Mutation_p.R274C|CTCFL_uc010gjc.1_Missense_Mutation_p.R274C|CTCFL_uc010gjd.1_Missense_Mutation_p.R274C|CTCFL_uc010gje.3_Missense_Mutation_p.R274C|CTCFL_uc010gjg.3_Missense_Mutation_p.R6C|CTCFL_uc010gjf.3_Missense_Mutation_p.R69C|CTCFL_uc010gjh.2_Missense_Mutation_p.R274C|CTCFL_uc010gji.2_Missense_Mutation_p.R69C|CTCFL_uc010gjj.2_Missense_Mutation_p.R274C|CTCFL_uc021wfe.1_Missense_Mutation_p.R274C|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Missense_Mutation_p.R6C|CTCFL_uc010gjk.1_Missense_Mutation_p.R274C|CTCFL_uc010gjl.1_Missense_Mutation_p.R274C NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA. 274 DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TTCATATGACGATTAAAACTT 0.443000 60 28 0 0 0.006320 0 0 F8 2157 broad.mit.edu 37 X 154215554 154215554 + Missense_Mutation SNP T A A rs5987076 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:154215554T>A uc004fmt.3 - 4 799 c.628A>T c.(628-630)Acc>Tcc p.T210S NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 210 F5/8 type A 1.|Plastocyanin-like 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTGTGCAAGGTCTGTGTCTTT 0.343000 27 19 0 0 0.008871 0 0 KCNK9 51305 broad.mit.edu 37 8 140630676 140630676 + Missense_Mutation SNP G T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:140630676G>T uc003yvf.1 - 1 1014 c.950C>A c.(949-951)tCc>tAc p.S317Y KCNK9_uc003yvg.1_Missense_Mutation_p.S317Y|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 317 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) GGCGCTGAAGGAGTTCTGCGG 0.592000 83 23 1.50039e-11 1.56803e-11 0.012319 1 0 DOCK1 1793 broad.mit.edu 37 10 129237477 129237477 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:129237477C>T uc010qun.2 + 48 5311 c.5247C>T c.(5245-5247)atC>atT p.I1749I DOCK1_uc001ljt.3_Silent_p.I1728I|DOCK1_uc009yaq.3_Silent_p.I723I NM_001380 NP_001371 Q14185 DOCK1_HUMAN Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA. 1728 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) AGGCTGTGATCCTTTCGGAAA 0.502000 2 4 0 0 0.000602 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227279642 227279642 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:227279642C>T uc001hqr.3 - 15 3243 c.2300G>A c.(2299-2301)cGa>cAa p.R767Q CDC42BPA_uc001hqq.3_Missense_Mutation_p.R31Q|CDC42BPA_uc001hqs.3_Missense_Mutation_p.R686Q|CDC42BPA_uc009xes.3_Missense_Mutation_p.R767Q|CDC42BPA_uc010pvs.2_Missense_Mutation_p.R767Q NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA. 767 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) CACTTTTTCTCGTTCATATTG 0.323000 16 19 0 0 0.002780 0 0 GRPR 2925 broad.mit.edu 37 X 16170679 16170679 + Missense_Mutation SNP A G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:16170679A>G uc004cxj.3 + 2 1719 c.1066A>G c.(1066-1068)Acc>Gcc p.T356A NM_005314 NP_005305 P30550 GRPR_HUMAN Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA. 356 cell proliferation integral to plasma membrane bombesin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) AAGGAGTACAACCTGCATGAC 0.527000 100 157 0 0 0.014410 0 0 EPCAM 4072 broad.mit.edu 37 2 47606944 47606944 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:47606944G>A uc002rvx.3 + 6 1052 c.694G>A c.(694-696)Gac>Aac p.D232N NM_002354 NP_002345 P16422 EPCAM_HUMAN Homo sapiens epithelial cell adhesion molecule (EPCAM), mRNA. 232 positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding p.0?(2)|p.?(1) endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1) 15 TAAGAAAATGGACCTGACAGT 0.343000 36 23 0 0 0.003954 0 0 TXN2 25828 broad.mit.edu 37 22 36863860 36863860 + Silent SNP C A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:36863860C>A uc003apk.1 - 3 569 c.492G>T c.(490-492)ctG>ctT p.L164L TXN2_uc003apl.1_Non-coding_Transcript NM_012473 NP_036605 Q99757 THIOM_HUMAN Homo sapiens thioredoxin 2 (TXN2), nuclear gene encoding mitochondrial protein, mRNA. 164 Thioredoxin. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport mitochondrion|nucleolus electron carrier activity breast(1)|lung(1)|prostate(1) 3 GTCAGCCAATCAGCTTCTTCA 0.587000 28 31 2.20262e-25 2.32575e-25 0.013726 1 0 GEM 2669 broad.mit.edu 37 8 95262655 95262655 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:95262655C>T uc003ygi.3 - 4 898 c.774G>A c.(772-774)agG>agA p.R258R GEM_uc003ygj.3_Silent_p.R258R NM_181702 NP_859053 P55040 GEM_HUMAN Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA. 258 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) TGCTCTCCTTCCTTTTCTGGT 0.552000 40 26 0 0 0.003954 0 0 LRRC32 2615 broad.mit.edu 37 11 76372239 76372239 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:76372239C>T uc001oxq.4 - 2 641 c.398G>A c.(397-399)gGg>gAg p.G133E LRRC32_uc001oxr.4_Missense_Mutation_p.G133E|LRRC32_uc010rsf.2_Missense_Mutation_p.G133E NM_005512 NP_005503 Q14392 LRC32_HUMAN Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA. 133 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CAGGCTGTTCCCAGACAGGTC 0.687000 35 25 0 0 0.006320 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997405 19997405 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:19997405C>T uc002ktv.1 - 0 474 c.370G>A c.(370-372)Gaa>Aaa p.E124K NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA. 124 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GATTTCTCTTCTTTTAACTCT 0.378000 84 58 0 0 0.014410 0 0 NOL4 8715 broad.mit.edu 37 18 31537311 31537311 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:31537311C>T uc010dmi.3 - 7 1705 c.1407G>A c.(1405-1407)atG>atA p.M469I NOL4_uc010xbs.2_Missense_Mutation_p.M184I|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Missense_Mutation_p.M395I|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron NM_003787 NP_001185478 O94818 NOL4_HUMAN Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA. 469 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 CACTTCTTTTCATCCGCCTGC 0.423000 44 26 0 0 0.009535 0 0 ODZ1 10178 broad.mit.edu 37 X 123657415 123657415 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:123657415G>A uc010nqy.3 - 16 2896 c.2832C>T c.(2830-2832)ttC>ttT p.F944F ODZ1_uc011muj.2_Silent_p.F943F|ODZ1_uc004euj.3_Silent_p.F944F NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 944 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding p.S944S(1) NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 TCTCAGGCAGGAAAGGGGATC 0.458000 28 31 0 0 0.008361 0 0 WNT5B 81029 broad.mit.edu 37 12 1749083 1749083 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:1749083G>A uc009zdq.3 + 3 804 c.562G>A c.(562-564)Gga>Aga p.G188R WNT5B_uc001qjj.3_Missense_Mutation_p.G188R|WNT5B_uc001qjk.3_Missense_Mutation_p.G188R|WNT5B_uc001qjl.3_Missense_Mutation_p.G188R NM_032642 NP_116031 Q9H1J7 WNT5B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA. 188 Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) CTTTGCCAAAGGATCAGAGGA 0.632000 23 11 0 0 0.008291 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857021 9857021 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:9857021G>A uc010uym.2 - 13 4690 c.4380C>T c.(4378-4380)atC>atT p.I1460I GRIN2A_uc002czo.4_Silent_p.I1460I|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1460 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CATCAGATTCGATACTAGGCA 0.363000 24 9 0 0 0.004482 0 0 HHIP 64399 broad.mit.edu 37 4 145636452 145636452 + Splice_Site SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:145636452G>A uc003ijs.2 + 10 2228 c.1548_splice c.e10-1 p.G516_splice NM_022475 NP_071920 Q96QV1 HHIP_HUMAN Homo sapiens hedgehog interacting protein (HHIP), mRNA. 516 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TCTGTTGTAGGAATTTCCTAA 0.373000 23 17 0 0 0.006122 0 0 TRPC5 7224 broad.mit.edu 37 X 111090435 111090435 + Missense_Mutation SNP T C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:111090435T>C uc004epl.1 - 5 2526 c.1607A>G c.(1606-1608)aAc>aGc p.N536S TRPC5_uc004epm.1_Missense_Mutation_p.N536S NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA. 536 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GTAAAGCTGGTTCAGTCCATT 0.448000 78 54 0 0 0.014410 0 0 GABRE 2564 broad.mit.edu 37 X 151123444 151123445 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:151123444_151123445CC>TT uc004ffi.3 - 8 1303_1304 c.1249_1250GG>AA c.(1249-1251)gga>AAa p.G417K GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 417 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GCGCTCCTCTCCATCACTTCCC 0.644000 9 8 0 0 0.004672 0 0 SPINT1 6692 broad.mit.edu 37 15 41146839 41146840 + Missense_Mutation DNP AC TT TT TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:41146839_41146840AC>TT uc001zna.3 + 7 1321_1322 c.1117_1118AC>TT c.(1117-1119)acg>TTg p.T373L SPINT1_uc001znb.3_Missense_Mutation_p.T357L|SPINT1_uc001znc.3_Missense_Mutation_p.T357L|SPINT1_uc010ucs.2_Missense_Mutation_p.T364L NM_181642 NP_857593 O43278 SPIT1_HUMAN Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA. 373 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CTCTGCAGACACGAGTGGCTTT 0.604000 43 32 0 0 0.004672 0 0 CSNK1G1 53944 broad.mit.edu 37 15 64508805 64508805 + Nonsense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:64508805G>A uc002anf.3 - 4 880 c.400C>T c.(400-402)Cga>Tga p.R134* CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Nonsense_Mutation_p.R134*|CSNK1G1_uc002anh.1_Nonsense_Mutation_p.R134*|CSNK1G1_uc002anj.3_Nonsense_Mutation_p.R107* NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA. 134 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 13 GTAAATGTTCGGTCACAGAGG 0.463000 23 17 0 0 0.004990 0 0 TRPV6 55503 broad.mit.edu 37 7 142575028 142575028 + Silent SNP C T T rs145023704 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:142575028C>T uc003wbx.2 - 3 583 c.354G>A c.(352-354)caG>caA p.Q118Q TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 118 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GCAGTGCAGTCTGACCTGGCC 0.622000 6 51 0 0 0.014410 0 0 EP300 2033 broad.mit.edu 37 22 41551054 41551054 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:41551054C>T uc003azl.4 + 16 3593 c.3198C>T c.(3196-3198)taC>taT p.Y1066Y NM_001429 NP_001420 Q09472 EP300_HUMAN Homo sapiens E1A binding protein p300 (EP300), mRNA. 1066 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 AGGCACTTTACCGTCAGGATC 0.383000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 117 81 0 0 0.014410 0 0 PDE9A 5152 broad.mit.edu 37 21 44151975 44151975 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr21:44151975G>A uc002zbm.3 + 4 421 c.358G>A c.(358-360)Gaa>Aaa p.E120K PDE9A_uc002zbn.3_Intron|PDE9A_uc002zbo.3_Intron|PDE9A_uc002zbp.3_5'UTR|PDE9A_uc002zbq.3_Intron|PDE9A_uc002zbs.3_Intron|PDE9A_uc002zbr.3_Intron|PDE9A_uc002zbt.3_Intron|PDE9A_uc002zbu.3_Intron|PDE9A_uc002zbv.3_Intron|PDE9A_uc002zbw.3_Intron|PDE9A_uc002zbx.3_Intron|PDE9A_uc002zby.3_Intron|PDE9A_uc002zbz.3_Intron|PDE9A_uc002zca.3_Missense_Mutation_p.E79K|PDE9A_uc002zcb.3_Missense_Mutation_p.E94K|PDE9A_uc002zcc.3_Intron|PDE9A_uc002zcd.3_Intron|PDE9A_uc002zce.3_Missense_Mutation_p.E53K|PDE9A_uc002zcf.3_5'UTR|PDE9A_uc002zcg.3_Intron NM_002606 NP_001001585 O76083 PDE9A_HUMAN Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA. 120 platelet activation|signal transduction Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 GCCCCGGAGGGAAGGAGCATT 0.622000 39 19 0 0 0.008871 0 0 SYT4 6860 broad.mit.edu 37 18 40850433 40850433 + Missense_Mutation SNP C A A rs149020215 byFrequency TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:40850433C>A uc002law.3 - 3 1520 c.1151G>T c.(1150-1152)cGa>cTa p.R384L SYT4_uc010dng.3_Non-coding_Transcript|SYT4_uc010xcm.2_Missense_Mutation_p.R366L NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN Homo sapiens synaptotagmin IV (SYT4), mRNA. 384 C2 2. cell junction|integral to membrane|synaptic vesicle membrane transporter activity p.R384Q(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 TACCTCATTTCGGGACCCCCT 0.458000 54 41 1.30998e-17 1.37751e-17 0.005524 1 0 ABCA6 23460 broad.mit.edu 37 17 67109458 67109458 + Missense_Mutation SNP G A A rs34123357 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:67109458G>A uc002jhw.1 - 14 2121 c.1946C>T c.(1945-1947)tCc>tTc p.S649F NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 649 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TTGATCTCTGGAAAAGGGATC 0.418000 14 18 0 0 0.007413 0 0 LRRTM2 26045 broad.mit.edu 37 5 138209494 138209494 + Nonsense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:138209494C>T uc011cyz.1 - 1 1213 c.756G>A c.(754-756)tgG>tgA p.W252* CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Nonsense_Mutation_p.W118*|CTNNA1_uc003ldl.3_5'Flank NM_015564 NP_056379 O43300 LRRT2_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA. 252 cell junction|integral to membrane|postsynaptic membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTAAAGTGCCCCAGGTCCACT 0.423000 222 164 0 0 0.014410 0 0 CAPS2 84698 broad.mit.edu 37 12 75672694 75672694 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:75672694G>A uc001sxl.3 - 16 1793 c.1764C>T c.(1762-1764)atC>atT p.I588I CAPS2_uc001sxm.3_Silent_p.I375I|CAPS2_uc009zsa.2_Silent_p.I197I|CAPS2_uc001sxi.4_Intron|CAPS2_uc001sxj.4_Intron|CAPS2_uc001sxk.4_Intron NM_032606 NP_115995 Q9BXY5 CAYP2_HUMAN Homo sapiens calcyphosine 2 (CAPS2), mRNA. 0 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 GAGTACGTAAGATGTTAACAA 0.333000 22 22 0 0 0.010504 0 0 ADAM32 203102 broad.mit.edu 37 8 39027493 39027493 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:39027493C>T uc003xmt.4 + 9 1137 c.892C>T c.(892-894)Cgt>Tgt p.R298C ADAM32_uc011lch.2_Missense_Mutation_p.R305C|ADAM32_uc003xmu.4_Missense_Mutation_p.R298C NM_145004 NP_659441 Q8TC27 ADA32_HUMAN Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA. 298 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.R297S(2) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) GTGTATTACTCGTTATTCTGC 0.254000 38 18 0 0 0.003330 0 0 OR11H12 440153 broad.mit.edu 37 14 19378109 19378109 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:19378109G>A uc010tkp.2 + 0 516 c.516G>A c.(514-516)ctG>ctA p.L172L NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA. 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTGGTTCCTGATCCCCATTG 0.478000 121 37 0 0 0.014410 0 0 TBX18 9096 broad.mit.edu 37 6 85446847 85446847 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:85446847C>T uc003pkl.1 - 7 1380 c.1380G>A c.(1378-1380)gtG>gtA p.V460V TBX18_uc010kbq.2_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN Homo sapiens T-box 18 (TBX18), mRNA. 460 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TGCTGCTGCTCACGCCCACAT 0.577000 40 36 0 0 0.003755 0 0 AMOT 154796 broad.mit.edu 37 X 112022752 112022752 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:112022752G>A uc004epr.3 - 9 2648 c.2630C>T c.(2629-2631)gCt>gTt p.A877V AMOT_uc004eps.3_Missense_Mutation_p.A468V|AMOT_uc011mtc.1_Missense_Mutation_p.A117V NM_001113490 NP_573572 Q4VCS5 AMOT_HUMAN Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA. 877 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gggagcaacagctgcagTTTT 0.602000 20 22 0 0 0.012319 0 0 OBSCN 84033 broad.mit.edu 37 1 228494759 228494759 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:228494759G>A uc009xez.1 + 44 12128 c.12084G>A c.(12082-12084)caG>caA p.Q4028Q OBSCN_uc001hsn.3_Silent_p.Q4028Q NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 4028 Ig-like 41. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGATGGTGCAGGATGGTGCAG 0.642000 32 15 0 0 0.003163 0 0 VANGL2 57216 broad.mit.edu 37 1 160389254 160389254 + Missense_Mutation SNP G C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:160389254G>C uc001fwb.2 + 4 954 c.655G>C c.(655-657)Gcc>Ccc p.A219P VANGL2_uc001fwc.2_Missense_Mutation_p.A219P NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA. 219 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGTGCAGTTCGCCGTGTCGCT 0.622000 51 78 0 0 0.014410 0 0 HBG1 3047 broad.mit.edu 37 11 5275573 5275573 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:5275573C>T uc001mai.1 - 1 701 c.264G>A c.(262-264)caG>caA p.Q88Q HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Silent_p.Q88Q NM_000559 NP_000550 P69891 HBG1_HUMAN Homo sapiens hemoglobin, gamma A (HBG1), mRNA. 88 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding p.Q88R(2) large_intestine(1)|lung(3)|skin(1) 5 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTTCACTCAGCTGGGCAAAGG 0.517000 98 42 0 0 0.011902 0 0 TEK 7010 broad.mit.edu 37 9 27212783 27212783 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:27212783C>T uc011lno.2 + 15 3078 c.2636C>T c.(2635-2637)aCg>aTg p.T879M TEK_uc003zqi.4_Missense_Mutation_p.T922M|TEK_uc011lnp.2_Missense_Mutation_p.T774M NM_000459 NP_000450 Q02763 TIE2_HUMAN Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA. 922 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) GTGCTGGAGACGGACCCAGCA 0.592000 3 13 0 0 0.001855 0 0 THSD7B 80731 broad.mit.edu 37 2 137917931 137917931 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:137917931G>A uc002tva.1 + 4 1425 c.1425G>A c.(1423-1425)ggG>ggA p.G475G THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.G365G NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ATCCTCAGGGGAAAAAAGGTG 0.468000 31 15 0 0 0.006122 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47564905 47564905 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:47564905G>A uc001cqu.1 + 7 1019 c.1016G>A c.(1015-1017)aGa>aAa p.R339K NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA. 339 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 CATCAGCAGAGATGCCGAGAT 0.453000 24 24 0 0 0.003330 0 0 CLCNKA 1187 broad.mit.edu 37 1 16358311 16358311 + Missense_Mutation SNP A G G rs139001368 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:16358311A>G uc001axu.3 + 15 1809 c.1729A>G c.(1729-1731)Acc>Gcc p.T577A CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.T534A|CLCNKA_uc001axv.3_Missense_Mutation_p.T577A|CLCNKA_uc010oby.1_Intron|CLCNKA_uc021ogl.1_Intron NM_004070 NP_004061 P51800 CLCKA_HUMAN Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA. 577 CBS 1. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CACAGACGTGACCGAGTATCC 0.607000 62 4 0 0 0.009096 0 0 RNF112 7732 broad.mit.edu 37 17 19319073 19319073 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:19319073G>A uc010vyw.2 + 13 1712 c.1481G>A c.(1480-1482)cGg>cAg p.R494Q RNF112_uc021tsa.1_Non-coding_Transcript NM_007148 NP_009079 Q7Z5V9 Q7Z5V9_HUMAN Homo sapiens ring finger protein 112 (RNF112), mRNA. 494 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 GACACCATGCGGAACCTCCTC 0.597000 27 17 0 0 0.004990 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140202658 140202658 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140202658C>T uc003lhl.2 + 0 1298 c.1298C>T c.(1297-1299)tCg>tTg p.S433L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.S433L|PCDHAC2_uc003lhj.1_Missense_Mutation_p.S433L NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 448 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTCGCCTTCGCTGTGGGCC 0.637000 68 51 0 0 0.014410 0 0 PLXNA3 55558 broad.mit.edu 37 X 153699655 153699655 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:153699655G>A uc004flm.3 + 30 5537 c.5364G>A c.(5362-5364)gtG>gtA p.V1788V NM_017514 NP_059984 P51805 PLXA3_HUMAN Homo sapiens plexin A3 (PLXNA3), mRNA. 1788 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGAGCTGGGTGGAGAGGTGGG 0.657000 60 51 0 0 0.014410 0 0 NRK 203447 broad.mit.edu 37 X 105178249 105178249 + Splice_Site SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:105178249G>A uc004emd.3 + 20 3616 c.3313_splice c.e20-1 p.E1105_splice NRK_uc010npc.1_Splice_Site_p.E773_splice NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 1105 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ACTTCTTTTAGGAGCCAGGTG 0.418000 HNSCC(51;0.14) 49 34 0 0 0.004289 0 0 COL6A6 131873 broad.mit.edu 37 3 130345347 130345347 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:130345347G>A uc010htl.3 + 23 4928 c.4897G>A c.(4897-4899)Gga>Aga p.G1633R COL6A6_uc003eni.4_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 1633 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGGAGATCTGGGAGAAAAAGG 0.413000 48 32 0 0 0.012213 0 0 MUC5B 727897 broad.mit.edu 37 11 1258233 1258233 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:1258233G>A uc001lta.3 + 24 3195 c.3136G>A c.(3136-3138)Ggg>Agg p.G1046R MUC5B_uc009yct.2_Missense_Mutation_p.G1046R NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 1046 VWFD 3. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTCCGTGGTGGGGGACGCACT 0.657000 8 9 0 0 0.004482 0 0 POTEH 23784 broad.mit.edu 37 22 16266957 16266957 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:16266957G>A uc010gqp.2 - 8 1544 c.1492C>T c.(1492-1494)Cct>Tct p.P498S POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.P217S|POTEH_uc002zlj.1_Missense_Mutation_p.P333S NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA. 498 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TCAGTGTCAGGAAATTGCTGG 0.413000 158 18 0 0 0.003755 0 0 KCNH8 131096 broad.mit.edu 37 3 19559536 19559536 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:19559536C>T uc003cbk.1 + 14 2784 c.2589C>T c.(2587-2589)acC>acT p.T863T KCNH8_uc010hex.1_Silent_p.T324T NM_144633 NP_653234 Q96L42 KCNH8_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA. 863 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 CAGAGGAGACCAAGCAGCAGA 0.408000 32 41 0 0 0.006999 0 0 AURKB 9212 broad.mit.edu 37 17 8108286 8108286 + Missense_Mutation SNP G A A rs144169786 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:8108286G>A uc002gkn.3 - 8 1002 c.941C>T c.(940-942)tCg>tTg p.S314L AURKB_uc021tpy.1_Missense_Mutation_p.S281L|AURKB_uc010cnu.3_Missense_Mutation_p.S133L|AURKB_uc002gkm.3_Missense_Mutation_p.S313L|AURKB_uc010vuu.2_Missense_Mutation_p.S272L|AURKB_uc002gko.3_Non-coding_Transcript NM_004217 NP_004208 Q96GD4 AURKB_HUMAN Homo sapiens aurora kinase B (AURKB), mRNA. 313 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|lung(2) 4 CAGCCGTTCCGAGGGGTTATG 0.632000 26 15 0 0 0.003163 0 0 FERMT1 55612 broad.mit.edu 37 20 6093246 6093246 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:6093246G>A uc002wmr.3 - 3 1199 c.410C>T c.(409-411)tCc>tTc p.S137F FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Missense_Mutation_p.S137F NM_017671 NP_060141 Q9BQL6 FERM1_HUMAN Homo sapiens fermitin family member 1 (FERMT1), mRNA. 137 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 CTTTAACAAGGAAAGCTCTTC 0.299000 22 21 0 0 0.008871 0 0 OR11H12 440153 broad.mit.edu 37 14 19377829 19377829 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:19377829G>A uc010tkp.2 + 0 236 c.236G>A c.(235-237)gGa>gAa p.G79E NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA. 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGTTCCTGGGAAATTTCTCC 0.413000 62 50 0 0 0.014410 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093384 30093385 + RNA DNP CC TT TT TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:30093384_30093385CC>TT uc010dmc.3 + 0 c.1759_1760CC>TT Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA. GGATCTGCCCCCCTGGGCTTTT 0.500000 26 14 0 0 0.004672 0 0 KDR 3791 broad.mit.edu 37 4 55970857 55970857 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:55970857C>T uc003has.3 - 12 2242 c.1940G>A c.(1939-1941)aGg>aAg p.R647K KDR_uc003hat.1_Missense_Mutation_p.R647K|KDR_uc011bzx.2_Missense_Mutation_p.R647K NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 647 Ig-like C2-type 6. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CTTGGTCTTCCTGTCTTGAGC 0.463000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 14 16 0 0 0.006122 0 0 CEP164 22897 broad.mit.edu 37 11 117209316 117209316 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:117209316C>T uc001prc.3 + 2 161 c.14C>T c.(13-15)cCc>cTc p.P5L CEP164_uc001prb.3_Missense_Mutation_p.P5L|CEP164_uc001prd.2_Missense_Mutation_p.P5L|CEP164_uc010rxj.1_Intron|CEP164_uc010rxk.1_Missense_Mutation_p.P5L NM_014956 NP_055771 Q9UPV0 CE164_HUMAN Homo sapiens centrosomal protein 164kDa (CEP164), mRNA. 5 Interaction with ATRIP. DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GCTGGACGACCCCTCCGCATA 0.493000 58 44 0 0 0.014410 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540517 169540517 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:169540517G>A uc003fgb.3 + 0 808 c.808G>A c.(808-810)Gag>Aag p.E270K NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA. 270 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GAACCGCCTGGAGAAGGTGCC 0.622000 2 15 0 0 0.003163 0 0 TCRA 0 broad.mit.edu 37 14 22891808 22891808 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:22891808C>T uc001wdv.4 + 1 185 c.120C>T c.(118-120)ctC>ctT p.L40L TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron|AK093552_uc001wds.1_Intron|AK125397_uc001wdt.1_Intron|TCRA_uc001wdu.2_Silent_p.L40L SubName: Full=TRA@ protein; CTGCCACCCTCAGGTGCTCCA 0.488000 42 47 0 0 0.014410 0 0 SLC16A14 151473 broad.mit.edu 37 2 230924038 230924038 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:230924038C>T uc002vqd.2 - 1 490 c.31G>A c.(31-33)Gat>Aat p.D11N FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.D11N|SLC16A14_uc002vqf.3_Missense_Mutation_p.D11N NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 11 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TCTTCAAAATCATACCCAATA 0.373000 30 22 0 0 0.014323 0 0 TNXB 7148 broad.mit.edu 37 6 32065114 32065114 + Missense_Mutation SNP A C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:32065114A>C uc003nzl.2 - 2 718 c.516T>G c.(514-516)gaT>gaG p.D172E NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 172 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGATCTCAGCATCTGTGGGGT 0.622000 179 229 0 0 0.014410 0 0 CCNB2 9133 broad.mit.edu 37 15 59406661 59406661 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:59406661G>A uc002afz.3 + 3 470 c.286G>A c.(286-288)Gag>Aag p.E96K NM_004701 NP_004692 O95067 CCNB2_HUMAN Homo sapiens cyclin B2 (CCNB2), mRNA. 96 G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|mitosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity centrosome|cytosol|nucleus protein kinase binding kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 9 TCCCACACCTGAGGATGTCTC 0.443000 43 32 0 0 0.005524 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884669 228884669 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:228884669G>A uc002vpq.2 - 6 948 c.901C>T c.(901-903)Ccc>Tcc p.P301S SPHKAP_uc002vpp.2_Missense_Mutation_p.P301S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P301S NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 301 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTGGCTGAGGGATCTAGACTC 0.403000 83 72 0 0 0.014410 0 0 EBF2 64641 broad.mit.edu 37 8 25708175 25708175 + Missense_Mutation SNP G T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:25708175G>T uc003xes.2 - 14 1896 c.1631C>A c.(1630-1632)cCt>cAt p.P544H DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript NM_022659 NP_073150 Q9HAK2 COE2_HUMAN Homo sapiens early B-cell factor 2 (EBF2), mRNA. 544 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) CCTGATGACAGGGGCAAAGGC 0.512000 11 44 8.01111e-26 8.47649e-26 0.010771 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130218372 130218372 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:130218372G>A uc004evz.3 + 4 1084 c.739G>A c.(739-741)Gaa>Aaa p.E247K ARHGAP36_uc004ewa.3_Missense_Mutation_p.E235K|ARHGAP36_uc004ewb.3_Missense_Mutation_p.E216K|ARHGAP36_uc004ewc.3_Missense_Mutation_p.E111K NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA. 247 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 CCAATTCATTGAAAAACATGG 0.478000 15 12 0 0 0.013537 0 0 SYTL4 94121 broad.mit.edu 37 X 99944858 99944858 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:99944858C>T uc004egd.4 - 10 1263 c.907G>A c.(907-909)Gat>Aat p.D303N SYTL4_uc010nnb.3_5'UTR|SYTL4_uc010nnc.3_Missense_Mutation_p.D303N|SYTL4_uc004ege.4_Missense_Mutation_p.D303N|SYTL4_uc004egf.4_Missense_Mutation_p.D303N|SYTL4_uc004egg.4_Missense_Mutation_p.D303N NM_080737 NP_542775 Q96C24 SYTL4_HUMAN Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA. 303 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCTACCATATCCACATTGAGG 0.403000 27 19 0 0 0.010504 0 0 BARX2 8538 broad.mit.edu 37 11 129306863 129306863 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:129306863G>A uc001qfc.4 + 1 455 c.405G>A c.(403-405)cgG>cgA p.R135R NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN Homo sapiens BARX homeobox 2 (BARX2), mRNA. 135 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) AGCCCCGCCGGAGTCGCACCA 0.627000 9 11 0 0 0.010729 0 0 MUC16 94025 broad.mit.edu 37 19 9063144 9063144 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:9063144G>A uc002mkp.3 - 2 24506 c.24302C>T c.(24301-24303)tCa>tTa p.S8101L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8103 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCCAGGAGTTGATGTGGAGAC 0.483000 55 32 0 0 0.009535 0 0 OR8D2 283160 broad.mit.edu 37 11 124189897 124189897 + Missense_Mutation SNP A G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:124189897A>G uc010sah.2 - 0 197 c.197T>C c.(196-198)tTg>tCg p.L66S NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) AATGAAAGACAAATGACTGAG 0.418000 30 23 0 0 0.003954 0 0 CYP2C19 1557 broad.mit.edu 37 10 96602760 96602760 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:96602760C>T uc010qnz.2 + 6 1128 c.1128C>T c.(1126-1128)ttC>ttT p.F376F CYP2C19_uc010qny.2_Silent_p.F354F NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 376 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) ACGTTAAATTCAGAAACTACC 0.473000 13 31 0 0 0.009535 0 0 ZNF480 147657 broad.mit.edu 37 19 52825260 52825260 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:52825260C>T uc010ydl.2 + 4 827 c.757C>T c.(757-759)Cat>Tat p.H253Y ZNF480_uc002pyv.3_Missense_Mutation_p.H176Y|ZNF480_uc010ydm.2_Missense_Mutation_p.H210Y|ZNF480_uc010epn.3_Missense_Mutation_p.H84Y|AK097759_uc002pyw.1_Intron NM_144684 NP_653285 Q8WV37 ZN480_HUMAN Homo sapiens zinc finger protein 480 (ZNF480), mRNA. 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) TTGTAGAATTCATACTGGAGA 0.368000 44 15 0 0 0.002450 0 0 MFSD4 148808 broad.mit.edu 37 1 205554093 205554093 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:205554093G>A uc001hcv.4 + 4 1035 c.949G>A c.(949-951)Gta>Ata p.V317I MFSD4_uc010prk.2_Missense_Mutation_p.V230I|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Missense_Mutation_p.V262I NM_181644 NP_857595 Q8N468 MFSD4_HUMAN Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA. 317 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GGGCGCCCTGGTACTGTTCAT 0.607000 OREG0014158 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 70 0 0 0.014410 0 0 VCPIP1 80124 broad.mit.edu 37 8 67577418 67577418 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:67577418G>A uc003xwn.3 - 0 2035 c.1776C>T c.(1774-1776)ttC>ttT p.F592F SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA. 592 protein ubiquitination Golgi stack|endoplasmic reticulum ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) AAGTAATAGGGAAAGCTTCTG 0.393000 52 32 0 0 0.010818 0 0 GRM8 2918 broad.mit.edu 37 7 126544728 126544728 + Missense_Mutation SNP C A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:126544728C>A uc003vlr.2 - 2 1048 c.737G>T c.(736-738)tGc>tTc p.C246F GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.C246F|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 246 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTGAGCAATGCAAACACCACC 0.373000 HNSCC(24;0.065) 43 22 1.36565e-18 1.43901e-18 0.002780 1 0 ITGAM 3684 broad.mit.edu 37 16 31336029 31336029 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:31336029G>A uc002ebr.3 + 17 2316 c.2218G>A c.(2218-2220)Gga>Aga p.G740R ITGAM_uc002ebq.3_Missense_Mutation_p.G739R|ITGAM_uc010can.3_Missense_Mutation_p.G145R|ITGAM_uc002ebs.1_Missense_Mutation_p.G145R|ITGAM_uc010vfj.1_5'Flank NM_001145808 NP_001139280 P11215 ITAM_HUMAN Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA. 739 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CTCTCTGGTGGGAACGCCATT 0.587000 21 10 0 0 0.013537 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10575720 10575720 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:10575720C>T uc002czw.3 + 10 1822 c.1663C>T c.(1663-1665)Cct>Tct p.P555S ATF7IP2_uc010uyp.2_Missense_Mutation_p.P99S|ATF7IP2_uc002czu.3_Missense_Mutation_p.P555S|ATF7IP2_uc002czv.3_Silent_p.H532H|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript NM_024997 NP_079273 Q5U623 MCAF2_HUMAN Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA. 555 P -> L (in Ref. 5; BAD97212). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 GCACCTGCCACCTCTCCCAGA 0.423000 33 19 0 0 0.012319 0 0 TUBG2 27175 broad.mit.edu 37 17 40818353 40818353 + Silent SNP C T T rs523338 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:40818353C>T uc010wgr.2 + 9 1265 c.1009C>T c.(1009-1011)Ctg>Ttg p.L337L TUBG2_uc002iap.3_Silent_p.L184L NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN Homo sapiens tubulin, gamma 2 (TUBG2), mRNA. 337 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity p.L337L(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) CCACAAGAGCCTGCAGAGGAT 0.672000 37 3 0 0 0.001168 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8654804 8654804 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:8654804C>T uc002mkj.1 - 15 2143 c.1869G>A c.(1867-1869)ggG>ggA p.G623G ADAMTS10_uc002mki.1_Missense_Mutation_p.G114E|ADAMTS10_uc002mkk.1_Silent_p.G255G NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 623 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TGTAGAATTTCCCACGGAAAG 0.587000 44 21 0 0 0.014323 0 0 ATF2 1386 broad.mit.edu 37 2 175962221 175962221 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:175962221G>A uc002ujl.3 - 10 1191 c.929C>T c.(928-930)tCt>tTt p.S310F ATF2_uc002ujv.3_Missense_Mutation_p.S57F|ATF2_uc002ujm.3_Missense_Mutation_p.S252F|ATF2_uc002uju.3_Non-coding_Transcript|ATF2_uc002ujn.3_Non-coding_Transcript|ATF2_uc002ujo.3_Intron|ATF2_uc002ujp.3_Non-coding_Transcript|ATF2_uc002ujq.3_Missense_Mutation_p.S310F|ATF2_uc010fqu.3_Missense_Mutation_p.S292F|ATF2_uc002ujr.3_Non-coding_Transcript|ATF2_uc002ujs.3_Missense_Mutation_p.S252F|ATF2_uc002ujt.3_Non-coding_Transcript|ATF2_uc010fqv.3_Missense_Mutation_p.S261F|ATF2_uc002ujw.1_Missense_Mutation_p.S252F|ATF2_uc002ujx.1_Non-coding_Transcript NM_001880 NP_001871 P15336 ATF2_HUMAN Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA. 310 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) CTGCGGTCGAGATTCCTCTGA 0.433000 45 33 0 0 0.005524 0 0 MST1P2 11209 broad.mit.edu 37 1 16975974 16975974 + RNA SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:16975974C>T uc010och.2 + 10 c.1996C>T MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. AGCCAAGATGCTGTGTGGGCC 0.597000 33 7 0 0 0.004482 0 0 CD2 914 broad.mit.edu 37 1 117311171 117311171 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:117311171G>A uc001egu.4 + 4 851 c.822G>A c.(820-822)caG>caA p.Q274Q NM_001767 NP_001758 P06729 CD2_HUMAN Homo sapiens CD2 molecule (CD2), mRNA. 274 T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) CAACCCCTCAGAATCCAGCAA 0.567000 18 12 0 0 0.010729 0 0 AGMAT 79814 broad.mit.edu 37 1 15901252 15901252 + Splice_Site SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:15901252C>T uc001awv.2 - 6 1128 c.985_splice c.e6+1 p.G329_splice DNAJC16_uc001awu.3_Intron NM_024758 NP_079034 Q9BSE5 SPEB_HUMAN Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA. 329 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) GCTTACTCACCAGAAAGATCA 0.478000 35 20 0 0 0.010504 0 0 GAD1 2571 broad.mit.edu 37 2 171702538 171702538 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:171702538G>A uc002ugi.3 + 9 1389 c.967G>A c.(967-969)Gat>Aat p.D323N NM_000817 NP_000808 Q99259 DCE1_HUMAN Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA. 323 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AATTCCAGCTGATTTTGAGGC 0.353000 36 29 0 0 0.009535 0 0 ZNF676 163223 broad.mit.edu 37 19 22362962 22362962 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:22362962G>A uc002nqs.1 - 2 1875 c.1557C>T c.(1555-1557)atC>atT p.I519I NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S518S(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GTTCAGTAAGGATCGAGGACC 0.398000 25 18 0 0 0.006122 0 0 GALNTL1 57452 broad.mit.edu 37 14 69795228 69795228 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:69795228G>A uc001xlb.2 + 5 957 c.630G>A c.(628-630)ctG>ctA p.L210L GALNTL1_uc001xla.2_Silent_p.L210L|GALNTL1_uc010aqu.2_Silent_p.L210L NM_020692 NP_065743 Q8N428 GLTL1_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA. 210 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2) 24 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) TCACCTTTCTGGATAGCCACT 0.642000 89 68 0 0 0.014410 0 0 CHRDL1 91851 broad.mit.edu 37 X 109931860 109931860 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:109931860C>T uc004eou.4 - 8 1299 c.950G>A c.(949-951)gGa>gAa p.G317E CHRDL1_uc004eov.3_Missense_Mutation_p.G311E|CHRDL1_uc004eow.3_Missense_Mutation_p.G316E|CHRDL1_uc010nps.3_Missense_Mutation_p.G316E|CHRDL1_uc011mss.2_Missense_Mutation_p.G237E NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA. 310 VWFC 3. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 GCAGCATTTTCCGTCTATTTT 0.443000 81 56 0 0 0.014410 0 0 AP1M1 8907 broad.mit.edu 37 19 16318952 16318952 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:16318952C>T uc002ndv.2 + 3 563 c.390C>T c.(388-390)atC>atT p.I130I AP1M1_uc002ndu.2_Silent_p.I130I|AP1M1_uc010xpd.1_Silent_p.I130I NM_001130524 NP_001123996 Q9BXS5 AP1M1_HUMAN Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA. 130 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 ACAGCAAGATCCTGCAGGAGT 0.592000 43 18 0 0 0.007413 0 0 HPD 3242 broad.mit.edu 37 12 122296617 122296617 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:122296617C>T uc001ubj.3 - 1 46 c.6G>A c.(4-6)acG>acA p.T2T HPD_uc001ubk.3_5'UTR NM_002150 NP_001165464 P32754 HPPD_HUMAN Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA. 2 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) CACTGTAAGTCGTCTAAGGAG 0.522000 38 22 0 0 0.012319 0 0 HTR7 3363 broad.mit.edu 37 10 92509351 92509351 + Splice_Site SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:92509351C>T uc001kha.3 - 2 783 c.540_splice c.e2-1 p.R180_splice HTR7_uc001kgz.3_Splice_Site_p.R180_splice|HTR7_uc001khb.3_Splice_Site_p.R180_splice NM_019859 NP_062873 P34969 5HT7R_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA. 180 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) TCCCAAGGTACCTAGTGGAGA 0.532000 8 28 0 0 0.005443 0 0 ZW10 9183 broad.mit.edu 37 11 113604494 113604494 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:113604494G>A uc001poe.3 - 15 2359 c.2262C>T c.(2260-2262)tcC>tcT p.S754S ZW10_uc009yyv.3_Non-coding_Transcript NM_004724 NP_004715 O43264 ZW10_HUMAN Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA. 754 ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TTACTTCACTGGAAGAGAACG 0.423000 26 37 0 0 0.003271 0 0 DOCK2 1794 broad.mit.edu 37 5 169423153 169423153 + Silent SNP G A A rs150071550 byFrequency TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:169423153G>A uc003maf.3 + 29 3137 c.3057G>A c.(3055-3057)acG>acA p.T1019T DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.T511T NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 1019 Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TAGAACACACGAACTTTGAGT 0.502000 33 20 0 0 0.002780 0 0 CARD10 29775 broad.mit.edu 37 22 37912264 37912264 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:37912264C>T uc003asx.1 - 2 432 c.415G>A c.(415-417)Gag>Aag p.E139K CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asy.1_Missense_Mutation_p.E139K NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA. 139 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) CGTCGCACCTCTGTCATCAAG 0.632000 12 6 0 0 0.001984 0 0 WARS 7453 broad.mit.edu 37 14 100828141 100828141 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:100828141G>A uc001yhh.1 - 2 598 c.217C>T c.(217-219)Cat>Tat p.H73Y WARS_uc001yhi.1_Missense_Mutation_p.H32Y|WARS_uc001yhg.2_Missense_Mutation_p.H73Y|WARS_uc001yhl.1_Missense_Mutation_p.H73Y|WARS_uc001yhk.1_Missense_Mutation_p.H32Y|WARS_uc010twz.1_Missense_Mutation_p.H73Y NM_004184 NP_998811 P23381 SYWC_HUMAN Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA. 73 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) TCTGGGCCATGATTACTGGTA 0.488000 110 64 0 0 0.014410 0 0 IL4R 3566 broad.mit.edu 37 16 27367137 27367137 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:27367137G>A uc002don.3 + 7 921 c.679G>A c.(679-681)Gag>Aag p.E227K IL4R_uc002dop.4_Missense_Mutation_p.E212K|IL4R_uc010bxy.3_Missense_Mutation_p.E227K|IL4R_uc002doo.3_Missense_Mutation_p.E67K NM_000418 NP_000409 P24394 IL4RA_HUMAN Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA. 227 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 AGCCTACAGGGAGCCCTTCGA 0.607000 40 18 0 0 0.007413 0 0 GLIS1 148979 broad.mit.edu 37 1 53975537 53975537 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:53975537G>A uc001cvr.1 - 7 2089 c.1522C>T c.(1522-1524)Ctg>Ttg p.L508L NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA. 508 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GGGCTGGGCAGAGGCGGGGGT 0.657000 18 11 0 0 0.003163 0 0 ABCC8 6833 broad.mit.edu 37 11 17483244 17483244 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:17483244G>A uc001mnc.3 - 4 834 c.708C>T c.(706-708)ttC>ttT p.F236F ABCC8_uc010rcy.1_Silent_p.F236F NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 236 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CAGTCTTGATGAAGGCGTTCA 0.602000 308 243 0 0 0.014410 0 0 PPM1H 57460 broad.mit.edu 37 12 63225985 63225985 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:63225985G>A uc001srk.3 - 1 469 c.320C>T c.(319-321)gCa>gTa p.A107V NM_020700 NP_065751 Q9ULR3 PPM1H_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA. 107 phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) CACGGCCCCTGCCTTCTTCTT 0.557000 9 14 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179458480 179458480 + Missense_Mutation SNP A T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:179458480A>T uc021vsy.1 - 246 51068 c.50843T>A c.(50842-50844)aTt>aAt p.I16948N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I10643N|TTN_uc021vta.1_Missense_Mutation_p.I10576N|TTN_uc021vtb.1_Missense_Mutation_p.I10451N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 17875 Fibronectin type-III 23. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTCTCAATAATATAATTGGT 0.393000 32 26 0 0 0.007291 0 0 DEDD 9191 broad.mit.edu 37 1 161092179 161092181 + Missense_Mutation DNP GG AT AT TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:161092179_161092181GG>AT uc009wty.3 - 4 900_902 c.803_805CC>AT c.(802-807)tcccgg>tATgg p.268_269SR>Y NIT1_uc001fxw.3_Intron|DEDD_uc001fxz.3_Missense_Mutation_p.238_239SR>Y|DEDD_uc001fya.3_Missense_Mutation_p.238_239SR>Y|DEDD_uc001fyb.3_Missense_Mutation_p.238_239SR>Y|DEDD_uc010pkb.2_Missense_Mutation_p.195_196SR>Y NM_001039712 NP_127491 O75618 DEDD_HUMAN Homo sapiens death effector domain containing (DEDD), transcript variant 4, mRNA. 238 apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1) 10 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CCCAGGTCCCGGGACTTGAGGAT 0.522000 55 51 0 0 0.004672 0 0 RASL11A 387496 broad.mit.edu 37 13 27847287 27847287 + Nonsense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr13:27847287C>T uc001urd.1 + 3 1003 c.385C>T c.(385-387)Cag>Tag p.Q129* NM_206827 NP_996563 Q6T310 RSLBA_HUMAN Homo sapiens RAS-like, family 11, member A (RASL11A), mRNA. 129 Small GTPase-like. positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent membrane|nucleolus GTP binding|GTPase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 10 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164) ACCCCTTTATCAGCACATCCG 0.562000 44 32 0 0 0.012213 0 0 OR6C74 254783 broad.mit.edu 37 12 55641806 55641806 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:55641806C>T uc010spg.2 + 0 735 c.735C>T c.(733-735)gtC>gtT p.V245V NM_001005490 NP_001005490 A6NCV1 O6C74_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA. 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 ACATGGTGGTCGTGTCCATTT 0.388000 46 34 0 0 0.006999 0 0 C8orf34 116328 broad.mit.edu 37 8 69434100 69434100 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:69434100G>A uc010lyz.3 + 5 1123 c.832G>A c.(832-834)Gaa>Aaa p.E278K C8orf34_uc010lyy.2_Missense_Mutation_p.E278K|C8orf34_uc003xyb.3_Missense_Mutation_p.E167K NM_052958 NP_443190 Q49A92 CH034_HUMAN Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA. 192 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TGGTAGAGAAGAAAATGATGC 0.428000 29 18 0 0 0.010504 0 0 OC90 729330 broad.mit.edu 37 8 133036941 133036941 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:133036941G>A uc003ytg.2 - 12 1221 c.1221C>T c.(1219-1221)aaC>aaT p.N407N OC90_uc011lix.1_Silent_p.N407N NM_001080399 NP_001073868 Q02509 OC90_HUMAN Homo sapiens otoconin 90 (OC90), mRNA. 423 Phospholipase A2-like 3. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TGAGGCTTTGGTTAAAGGAGG 0.617000 15 19 0 0 0.008871 0 0 FAM170A 340069 broad.mit.edu 37 5 118969986 118969986 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:118969986C>T uc003ksm.2 + 2 753 c.543C>T c.(541-543)ctC>ctT p.L181L FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Silent_p.L181L|FAM170A_uc003kso.3_Silent_p.L134L NM_182761 NP_877438 A1A519 F170A_HUMAN Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA. 181 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 CCAGAAACCTCCTGTCTGACA 0.547000 54 39 0 0 0.008740 0 0 OR5D16 390144 broad.mit.edu 37 11 55607076 55607076 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:55607076G>A uc010rio.2 + 0 849 c.849G>A c.(847-849)gtG>gtA p.V283V NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA. 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V282M(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) ACACCGTGGTGATCCCCTTGT 0.403000 26 34 0 0 0.009718 0 0 C15orf2 23742 broad.mit.edu 37 15 24923948 24923948 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:24923948G>A uc001ywo.3 + 0 3408 c.2934G>A c.(2932-2934)aaG>aaA p.K978K NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 978 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GCACAGCAAAGACTTCTGGAT 0.483000 40 19 0 0 0.008871 0 0 TBCEL 219899 broad.mit.edu 37 11 120916475 120916475 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:120916475C>T uc001pxo.3 + 1 281 c.76C>T c.(76-78)Cgt>Tgt p.R26C TBCEL_uc009zay.3_Missense_Mutation_p.R26C|TBCEL_uc001pxp.3_5'UTR|TBCEL_uc001pxq.3_Non-coding_Transcript NM_152715 NP_689928 Q5QJ74 TBCEL_HUMAN Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA. 26 cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) TCCTTATCGCCGTGGCCCGGG 0.423000 28 17 0 0 0.004990 0 0 L3MBTL4 91133 broad.mit.edu 37 18 5969478 5969478 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:5969478G>A uc002kmz.4 - 17 1715 c.1555C>T c.(1555-1557)Ccc>Tcc p.P519S L3MBTL4_uc002kmy.4_Missense_Mutation_p.P510S|L3MBTL4_uc010dkt.3_Missense_Mutation_p.P519S NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA. 519 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) CTGCCGAGGGGAAGGTCCCGA 0.612000 42 39 0 0 0.005524 0 0 SLC9A4 389015 broad.mit.edu 37 2 103148791 103148791 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:103148791G>A uc002tbz.4 + 11 2498 c.2041G>A c.(2041-2043)Gat>Aat p.D681N NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 681 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TTTCCTAGATGATGACAGCAG 0.443000 52 38 0 0 0.010771 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110033912 110033912 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:110033912C>T uc001dxr.3 + 9 1742 c.1727C>T c.(1726-1728)cCt>cTt p.P576L ATXN7L2_uc001dxs.3_Missense_Mutation_p.P203L|CYB561D1_uc010ovl.2_5'Flank|CYB561D1_uc010ovm.2_5'Flank|CYB561D1_uc001dxu.3_5'Flank|CYB561D1_uc001dxw.3_5'Flank|CYB561D1_uc010ovn.2_5'Flank|CYB561D1_uc010ovo.2_5'Flank|CYB561D1_uc009wfd.3_5'Flank|CYB561D1_uc010ovp.2_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA. 576 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) AAGTTATCCCCTGGCCCTACC 0.592000 288 236 0 0 0.014410 0 0 MCF2 4168 broad.mit.edu 37 X 138697137 138697137 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:138697137C>T uc011mwn.1 - 12 1707 c.1701G>A c.(1699-1701)agG>agA p.R567R MCF2_uc004fav.3_Silent_p.R422R|MCF2_uc004fau.3_Silent_p.R422R|MCF2_uc010nsh.2_Silent_p.R422R|MCF2_uc011mwm.2_Silent_p.R383R|MCF2_uc011mwl.2_Silent_p.R383R|MCF2_uc011mwo.1_Silent_p.R482R|MCF2_uc004faw.2_Silent_p.R482R NM_001171878 NP_001165349 P10911 MCF2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA. 422 DH. 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 Rho guanyl-nucleotide exchange factor activity|protein binding 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) CTGCCAGGTTCCTGAAACCAG 0.398000 134 108 0 0 0.014410 0 0 TBCE 6905 broad.mit.edu 37 1 235605135 235605135 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:235605135G>A uc010pxr.1 + 14 1553 c.1430G>A c.(1429-1431)gGt>gAt p.G477D TBCE_uc001hwz.1_Missense_Mutation_p.G426D|TBCE_uc001hxa.1_Missense_Mutation_p.G426D|TBCE_uc001hxb.1_Missense_Mutation_p.G313D NM_003193 NP_003184 Q15813 TBCE_HUMAN Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA. 426 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) ACAGAATATGGTGCACCTGAA 0.338000 17 30 0 0 0.008361 0 0 abParts 0 broad.mit.edu 37 14 106653435 106653435 + Splice_Site SNP T C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:106653435T>C uc021ser.1 - 1434 c.28785_splice c.e1434+1 Parts of antibodies, mostly variable regions. ATACAGGAAGTTCCTGGAATT 0.522000 45 28 0 0 0.006320 0 0 FOXG1 2290 broad.mit.edu 37 14 29237290 29237290 + Missense_Mutation SNP A C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:29237290A>C uc001wqe.3 + 0 1004 c.805A>C c.(805-807)Acc>Ccc p.T269P NM_005249 NP_005240 P55316 FOXG1_HUMAN Homo sapiens forkhead box G1 (FOXG1), mRNA. 269 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CATCGGCGGCACCACGGGCAA 0.682000 22 13 0 0 0.002450 0 0 CHD6 84181 broad.mit.edu 37 20 40079728 40079728 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:40079728G>A uc002xka.1 - 22 3719 c.3541C>T c.(3541-3543)Ccc>Tcc p.P1181S NM_032221 NP_115597 Q8TD26 CHD6_HUMAN Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA. 1181 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CTCCCTCTGGGGACTGGGGCA 0.542000 56 32 0 0 0.004878 0 0 AKAP3 10566 broad.mit.edu 37 12 4736158 4736158 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:4736158G>A uc001qnb.4 - 3 2154 c.1910C>T c.(1909-1911)cCc>cTc p.P637L NM_006422 NP_006413 O75969 AKAP3_HUMAN Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA. 637 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 TAGCCTGGGGGGAGAAGACGC 0.542000 20 15 0 0 0.002450 0 0 PTEN 5728 broad.mit.edu 37 10 89692905 89692905 + Missense_Mutation SNP G T T rs121913292 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:89692905G>T uc001kfb.3 + 4 1421 c.389G>T c.(388-390)cGa>cTa p.R130L PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 130 Phosphatase tensin-type. R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R130Q(130)|p.R130G(110)|p.R130*(72)|p.0?(37)|p.R130fs*4(28)|p.R130L(25)|p.R130P(14)|p.K128_R130del(8)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.G129fs*50(1)|p.G129fs*51(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGAAAGGGACGAACTGGTGTA 0.403000 R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM) 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 15 31 3.99451e-17 4.19177e-17 0.009535 1 0 LOC401010 401010 broad.mit.edu 37 2 132201387 132201387 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:132201387G>A uc002tst.2 - 0 1081 c.615C>T c.(613-615)ttC>ttT p.F205F Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA. TCCGCTGCATGAAACTGATGA 0.577000 26 22 0 0 0.014323 0 0 VWC2L 402117 broad.mit.edu 37 2 215279114 215279114 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:215279114G>A uc002vet.2 + 1 327 c.197G>A c.(196-198)cGa>cAa p.R66Q VWC2L_uc010zjl.1_Missense_Mutation_p.R66Q NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA. 66 VWFC 1. extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 TTGGGAGAACGATTTTTCCCT 0.458000 21 16 0 0 0.004990 0 0 UAP1 6675 broad.mit.edu 37 1 162536125 162536125 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:162536125C>T uc001gce.4 + 1 596 c.267C>T c.(265-267)gcC>gcT p.A89A NM_003115 NP_003106 Q16222 UAP1_HUMAN Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1), mRNA. 89 UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) AGCTCCAGGCCTGGGAAAGTG 0.413000 46 15 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179433574 179433574 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:179433574G>A uc021vsy.1 - 274 69806 c.69581C>T c.(69580-69582)aCt>aTt p.T23194I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T16889I|TTN_uc021vta.1_Missense_Mutation_p.T16822I|TTN_uc021vtb.1_Missense_Mutation_p.T16697I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 24121 Fibronectin type-III 68. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T23193S(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCCCCTTGAGTTAGGTTGGT 0.403000 43 48 0 0 0.014410 0 0 ITGB8 3696 broad.mit.edu 37 7 20418902 20418902 + Missense_Mutation SNP G C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:20418902G>C uc003suu.3 + 3 1322 c.617G>C c.(616-618)aGg>aCg p.R206T ITGB8_uc011jyh.2_Missense_Mutation_p.R71T|ITGB8_uc003sut.3_Missense_Mutation_p.R206T NM_002214 NP_002205 P26012 ITB8_HUMAN Homo sapiens integrin, beta 8 (ITGB8), mRNA. 206 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 CACCCCGAAAGGATTCATAAT 0.338000 21 11 0 0 0.013537 0 0 RPN2 6185 broad.mit.edu 37 20 35833181 35833181 + Silent SNP T G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:35833181T>G uc002xgp.3 + 5 871 c.567T>G c.(565-567)gcT>gcG p.A189A RPN2_uc010gfw.2_Silent_p.A32A|RPN2_uc002xgq.3_Silent_p.A157A|RPN2_uc021wdb.1_5'UTR NM_002951 NP_002942 P04844 RPN2_HUMAN Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA. 189 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) ACCTTGTTGCTCGCCTGGATG 0.488000 65 63 0 0 0.014410 0 0 KCNJ9 3765 broad.mit.edu 37 1 160053979 160053979 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:160053979G>A uc001fuy.1 + 1 401 c.159G>A c.(157-159)gtG>gtA p.V53V NM_004983 NP_004974 Q92806 IRK9_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 9 (KCNJ9), mRNA. 53 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCACGCTGGTGGACCTGCAGT 0.657000 10 4 0 0 0.009096 0 0 SLC6A1 6529 broad.mit.edu 37 3 11061952 11061952 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:11061952C>T uc010hdq.3 + 5 936 c.525C>T c.(523-525)tcC>tcT p.S175S NM_003042 NP_003033 P30531 SC6A1_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA. 175 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GCTGCTTCTCCAACTACAGCA 0.592000 9 9 0 0 0.006214 0 0 OR8B12 219858 broad.mit.edu 37 11 124413368 124413368 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:124413368G>A uc010sam.2 - 0 183 c.183C>T c.(181-183)ttC>ttT p.F61F NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA. 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) GGTTAAAAAGGAAGAAGTACA 0.453000 40 26 0 0 0.003954 0 0 COL18A1 80781 broad.mit.edu 37 21 46888517 46888517 + Silent SNP C G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr21:46888517C>G uc002zhi.3 + 1 1029 c.1008C>G c.(1006-1008)ccC>ccG p.P336P COL18A1_uc002zhg.3_Silent_p.P156P NM_030582 NP_085059 P39060 COIA1_HUMAN Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. 571 FZ. cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) TCCGGCTCCCCGCCTTCGTCG 0.627000 58 36 0 0 0.004289 0 0 SMCHD1 23347 broad.mit.edu 37 18 2688675 2688675 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:2688675C>T uc002klm.4 + 6 992 c.803C>T c.(802-804)tCt>tTt p.S268F NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA. 268 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 CTTGTGCTTTCTAAAGAAGAT 0.279000 4 6 0 0 0.004482 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757297 56757297 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:56757297G>A uc010rjp.2 + 0 909 c.909G>A c.(907-909)gtG>gtA p.V303V NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA. 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 CTTTAAAAGTGATAGGGAAAA 0.299000 12 8 0 0 0.003080 0 0 CTAGE11P 647288 broad.mit.edu 37 13 75814308 75814308 + Missense_Mutation SNP G T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr13:75814308G>T uc010ths.2 - 0 210 c.169C>A c.(169-171)Ctt>Att p.L57I Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA. CACAAAAAAAGGAGAACAACA 0.418000 21 13 2.27111e-07 2.36381e-07 0.013537 1 0 PDE1A 5136 broad.mit.edu 37 2 183104853 183104853 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:183104853C>T uc002uos.3 - 3 466 c.382G>A c.(382-384)Gga>Aga p.G128R PDE1A_uc010zfp.1_Missense_Mutation_p.G24R|PDE1A_uc002uoq.1_Missense_Mutation_p.G128R|PDE1A_uc010zfq.1_Missense_Mutation_p.G128R|PDE1A_uc002uor.3_Missense_Mutation_p.G112R|PDE1A_uc002uou.3_Missense_Mutation_p.G94R NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 128 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) ACAAAAATTCCAGCTTGAACA 0.393000 39 32 0 0 0.003271 0 0 GDF5 8200 broad.mit.edu 37 20 34022048 34022048 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:34022048C>T uc010gfc.1 - 1 1406 c.1165G>A c.(1165-1167)Ggc>Agc p.G389S GDF5OS_uc002xcj.3_Silent_p.A153A|GDF5_uc002xck.1_Missense_Mutation_p.G389S NM_000557 NP_000548 P43026 GDF5_HUMAN Homo sapiens growth differentiation factor 5 (GDF5), mRNA. 389 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GGTCGCTTGCCCTGGCGAGTG 0.592000 83 69 0 0 0.014410 0 0 CNTN4 152330 broad.mit.edu 37 3 2787269 2787269 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:2787269G>A uc003bpc.3 + 5 585 c.246G>A c.(244-246)ggG>ggA p.G82G CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.G82G|CNTN4_uc003bpd.1_Silent_p.G82G NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 82 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TTGTTGAAGGGAGCTTGTTGA 0.413000 51 32 0 0 0.004289 0 0 ZNF831 128611 broad.mit.edu 37 20 57829779 57829779 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:57829779G>A uc002yan.3 + 4 5015 c.5015G>A c.(5014-5016)cGa>cAa p.R1672Q NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1672 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GATGAAGACCGATTAGTTATA 0.453000 28 19 0 0 0.012319 0 0 MYH6 4624 broad.mit.edu 37 14 23855281 23855281 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:23855281G>A uc001wjv.3 - 33 5090 c.5019C>T c.(5017-5019)atC>atT p.I1673I NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 1673 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCACGATGGCGATGTTCTCCT 0.647000 38 15 0 0 0.002450 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581187 40581187 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:40581187G>A uc010xvh.2 - 5 1313 c.1165C>T c.(1165-1167)Ccg>Tcg p.P389S ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.P388S|ZNF780A_uc002omz.3_Missense_Mutation_p.P388S NM_001142577 NP_001136049 O75290 Z780A_HUMAN Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA. 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CATTCAAACGGTTTTTCACCT 0.403000 161 49 0 0 0.014410 0 0 ATP11C 286410 broad.mit.edu 37 X 138864759 138864759 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:138864759G>A uc004faz.3 - 17 2007 c.1908C>T c.(1906-1908)ttC>ttT p.F636F ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.F636F NM_173694 NP_775965 Q8NB49 AT11C_HUMAN Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA. 636 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) CAATATCATCGAAAACTTTTT 0.328000 33 27 0 0 0.005443 0 0 PHACTR1 221692 broad.mit.edu 37 6 13206120 13206120 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:13206120G>A uc003nah.2 + 7 1111 c.738G>A c.(736-738)atG>atA p.M246I PHACTR1_uc011dir.2_Missense_Mutation_p.M315I|PHACTR1_uc010jpc.3_Missense_Mutation_p.M246I|PHACTR1_uc003nag.2_Missense_Mutation_p.M246I NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA. 246 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity p.M246I(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) AGAAAGTCATGATCTGTATGC 0.602000 292 152 0 0 0.014410 0 0 LAT2 7462 broad.mit.edu 37 7 73634332 73634332 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:73634332C>T uc003uag.3 + 5 771 c.221C>T c.(220-222)cCc>cTc p.P74L LAT2_uc003uah.3_Missense_Mutation_p.P74L|LAT2_uc003uai.3_Missense_Mutation_p.P74L|LAT2_uc010lbo.3_Non-coding_Transcript NM_032464 NP_115853 Q9GZY6 NTAL_HUMAN Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA. 74 B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 GACATGGCACCCACAAGGTAG 0.637000 27 18 0 0 0.007413 0 0 GPR108 56927 broad.mit.edu 37 19 6734246 6734246 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:6734246G>A uc002mfp.3 - 4 493 c.447C>T c.(445-447)tcC>tcT p.S149S GPR108_uc010duv.3_5'Flank NM_001080452 NP_001073921 Q9NPR9 GP108_HUMAN Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA. 149 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 GCCCTGGTTTGGAGGGTGCTT 0.652000 OREG0025092 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 28 0 0 0.009535 0 0 TMCO3 55002 broad.mit.edu 37 13 114164616 114164616 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr13:114164616C>T uc001vtu.4 + 6 1463 c.1102C>T c.(1102-1104)Ctg>Ttg p.L368L TMCO3_uc001vtt.4_Silent_p.L368L NM_017905 NP_060375 Q6UWJ1 TMCO3_HUMAN Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA. 368 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) ATTTGGCTTGCTGTGGGGGCA 0.493000 58 45 0 0 0.014410 0 0 OR2B2 81697 broad.mit.edu 37 6 27879182 27879182 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:27879182C>T uc011dkw.2 - 0 993 c.916G>A c.(916-918)Gca>Aca p.A306T NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA. 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 AGACTCTTTGCAACCAACCTT 0.378000 50 26 0 0 0.007291 0 0 GON4L 54856 broad.mit.edu 37 1 155730261 155730261 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:155730261G>A uc001flz.2 - 23 5180 c.5083C>T c.(5083-5085)Cct>Tct p.P1695S GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.P1695S|GON4L_uc009wrh.1_Missense_Mutation_p.P1695S|GON4L_uc001fma.1_Missense_Mutation_p.P1695S|GON4L_uc001fmb.4_Missense_Mutation_p.P891S NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA. 1695 PAH 1. regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GCTTGCTCAGGTAACAGGAAA 0.483000 66 21 0 0 0.014323 0 0 BAHD1 22893 broad.mit.edu 37 15 40751525 40751525 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:40751525C>T uc001zlu.2 + 1 933 c.862C>T c.(862-864)Cct>Tct p.P288S BAHD1_uc001zlt.2_Missense_Mutation_p.P288S|BAHD1_uc010bbp.1_Missense_Mutation_p.P288S|BAHD1_uc001zlv.2_Missense_Mutation_p.P288S NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA. 288 Pro-rich. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome DNA binding|chromatin binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) ATCTGCAACTCCTTGTGGGCC 0.642000 37 25 0 0 0.005443 0 0 C6 729 broad.mit.edu 37 5 41158798 41158798 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:41158798G>A uc003jmk.2 - 12 2156 c.1946C>T c.(1945-1947)cCt>cTt p.P649L C6_uc003jml.1_Missense_Mutation_p.P649L NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 649 C5b-binding domain.|Sushi 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ATTTTCTGGAGGAACTGGCTG 0.398000 25 22 0 0 0.003954 0 0 PTH 5741 broad.mit.edu 37 11 13514139 13514139 + Nonsense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:13514139C>T uc001mlb.3 - 2 276 c.161G>A c.(160-162)tGg>tAg p.W54* NM_000315 NP_000306 P01270 PTHY_HUMAN Homo sapiens parathyroid hormone (PTH), mRNA. 54 Important for receptor binding. bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development hormone activity|peptide hormone receptor binding endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836) CTTACGCAGCCATTCTACTCT 0.493000 43 29 0 0 0.007291 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519312 113519312 + Missense_Mutation SNP C T T rs76910192 byFrequency TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:113519312C>T uc010ljy.1 - 3 1866 c.1835G>A c.(1834-1836)gGg>gAg p.G612E NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 612 glycogen metabolic process integral to membrane p.G612R(1)|p.G612G(1) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ACCAGTTATCCCTCCTAAAGC 0.393000 63 43 0 0 0.013114 0 0 CALR3 125972 broad.mit.edu 37 19 16590073 16590073 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:16590073C>T uc002ned.2 - 8 1087 c.1024G>A c.(1024-1026)Gag>Aag p.E342K MED26_uc002nee.2_Non-coding_Transcript NM_145046 NP_659483 Q96L12 CALR3_HUMAN Homo sapiens calreticulin 3 (CALR3), mRNA. 342 C-domain.|Glu/Lys-rich. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1) 15 GCATCCATCTCCCTTTCTGGA 0.532000 52 29 0 0 0.008361 0 0 MYO5B 4645 broad.mit.edu 37 18 47390533 47390533 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:47390533C>T uc002leb.2 - 27 4109 c.3821G>A c.(3820-3822)cGg>cAg p.R1274Q MYO5B_uc002lea.2_Missense_Mutation_p.R415Q NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 1274 protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GGCGAGTCGCCGCTGGTCGGC 0.612000 37 24 0 0 0.003954 0 0 HTT 3064 broad.mit.edu 37 4 3210615 3210615 + Missense_Mutation SNP C G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:3210615C>G uc021xkv.1 + 45 6413 c.6268C>G c.(6268-6270)Ctg>Gtg p.L2090V NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 2090 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GCACGTGTCACTGGAAACAGT 0.582000 9 7 0 0 0.003080 0 0 KRT16P2 400578 broad.mit.edu 37 17 16734855 16734855 + Missense_Mutation SNP C T T rs688852 by1000genomes TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:16734855C>T uc010vwr.1 - 2 720 c.278G>A c.(277-279)cGg>cAg p.R93Q Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA. p.R183Q(1) CACAGTCTGCCGCAGGGCCAG 0.632000 19 5 0 0 0.001984 0 0 B3GALT4 8705 broad.mit.edu 37 6 33246133 33246133 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:33246133G>A uc003odr.3 + 0 1217 c.937G>A c.(937-939)Ggt>Agt p.G313S NM_003782 NP_003773 O96024 B3GT4_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (B3GALT4), mRNA. 313 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|ganglioside galactosyltransferase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 CAAGCTGGCTGGTGCCACCCA 0.622000 55 99 0 0 0.014410 0 0 VSIG1 340547 broad.mit.edu 37 X 107320491 107320491 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:107320491G>A uc011msk.2 + 7 1313 c.1152G>A c.(1150-1152)ctG>ctA p.L384L VSIG1_uc004eno.3_Silent_p.L348L NM_001170553 NP_001164024 Q86XK7 VSIG1_HUMAN Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA. 348 integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 ACATCGAGCTGGAGCTGGAGC 0.567000 30 26 0 0 0.003330 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724540 38724540 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:38724540C>T uc001wum.1 - 0 1035 c.688G>A c.(688-690)Gaa>Aaa p.E230K NM_175060 NP_778230 Q86T13 CLC14_HUMAN Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA. 230 integral to membrane sugar binding p.E230K(2) breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GCGCCGATTTCGTCCGCGATG 0.637000 106 89 0 0 0.014410 0 0 DPRX 503834 broad.mit.edu 37 19 54140083 54140083 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:54140083C>T uc002qcf.1 + 2 468 c.417C>T c.(415-417)gtC>gtT p.V139V NM_001012728 NP_001012746 A6NFQ7 DPRX_HUMAN Homo sapiens divergent-paired related homeobox (DPRX), mRNA. 139 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) ACCTCAAGGTCCCTGCAAATG 0.527000 187 60 0 0 0.014410 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282858 69282858 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:69282858G>A uc004dxu.1 + 0 518 c.484G>A c.(484-486)Gtg>Atg p.V162M NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN Homo sapiens OTU domain containing 6A (OTUD6A), mRNA. 162 OTU. p.L161M(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 AGACCAGCTGGTGTTCAGCGT 0.632000 7 9 0 0 0.004482 0 0 GRM1 2911 broad.mit.edu 37 6 146480484 146480485 + Splice_Site DNP GG AA AA TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:146480484_146480485GG>AA uc010khw.1 + 3 1171 c.701_splice c.e3-1 p.G234_splice GRM1_uc010khu.1_Splice_Site_p.G234_splice|GRM1_uc010khv.1_Splice_Site_p.G234_splice|GRM1_uc003qll.2_Splice_Site_p.G234_splice|GRM1_uc011edz.1_Splice_Site_p.G234_splice|GRM1_uc011eea.1_Splice_Site_p.G234_splice NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 234 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TTCTGGACAGGGAATTATGGGG 0.475000 17 39 0 0 0.004672 0 0 GPR115 221393 broad.mit.edu 37 6 47682091 47682091 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:47682091C>T uc003oyz.1 + 6 1281 c.1281C>T c.(1279-1281)atC>atT p.I427I GPR115_uc003oza.1_Silent_p.I370I|GPR115_uc003ozb.1_Silent_p.I370I|RN7SK_uc021zaf.1_5'Flank NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 370 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.W427*(1) NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TGTTGGATATCAGGAACGAAG 0.458000 28 38 0 0 0.004289 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672809 141672809 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:141672809C>T uc003vwx.1 - 0 765 c.681G>A c.(679-681)atG>atA p.M227I NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 227 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) TATAGACCTTCATTGTCCTCA 0.483000 4 39 0 0 0.008740 0 0 PHKA2 5256 broad.mit.edu 37 X 18911701 18911701 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:18911701C>T uc004cyv.4 - 32 4040 c.3610G>A c.(3610-3612)Gct>Act p.A1204T LOC100132163_uc004cyt.3_Intron NM_000292 NP_000283 P46019 KPB2_HUMAN Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA. 1204 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) CCACTCGGAGCGCTGTCATAA 0.522000 107 153 0 0 0.014410 0 0 TNRC6B 23112 broad.mit.edu 37 22 40521847 40521847 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:40521847C>T uc003aym.3 + 2 328 c.26C>T c.(25-27)tCg>tTg p.S9L NM_001024843 NP_001020014 Q9UPQ9 TNR6B_HUMAN Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 3, mRNA. 0 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body RNA binding|nucleotide binding breast(1) 1 GGAGAAGTATCGGAAGAAAGC 0.378000 14 8 0 0 0.006214 0 0 LOC649330 649330 broad.mit.edu 37 1 12907865 12907865 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:12907865C>T uc010obf.2 - 1 504 c.278G>A c.(277-279)gGa>gAa p.G93E LOC649330_uc009vno.2_Missense_Mutation_p.G93E NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 93 nucleic acid binding|nucleotide binding ACCTGCGTTTCCTCGGTTCAC 0.483000 94 15 0 0 0.004007 0 0 SRRM2 23524 broad.mit.edu 37 16 2811981 2811981 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:2811981C>T uc002crk.3 + 10 2001 c.1452C>T c.(1450-1452)tcC>tcT p.S484S SRRM2_uc002crj.1_Silent_p.S388S|SRRM2_uc002crl.1_Silent_p.S484S|SRRM2_uc010bsu.1_Silent_p.S388S NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 484 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TGGGGAGGTCCCGTAGCCCTG 0.557000 28 14 0 0 0.003163 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420705 55420705 + Missense_Mutation SNP G T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:55420705G>T uc001sgp.4 + 1 860 c.482G>T c.(481-483)gGg>gTg p.G161V NEUROD4_uc021qyr.1_Missense_Mutation_p.G161V NM_021191 NP_067014 Q9HD90 NDF4_HUMAN Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA. 161 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 CTGTGTAAAGGGCTCTCTCAG 0.517000 31 31 1.13719e-10 1.18603e-10 0.008361 1 0 C20orf79 140856 broad.mit.edu 37 20 18794861 18794861 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:18794861C>T uc002wrk.3 + 0 492 c.402C>T c.(400-402)ttC>ttT p.F134F C20orf78_uc002wrj.2_Intron NM_178483 NP_848578 Q9UJQ7 CT079_HUMAN Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA. 134 SCP2. sterol binding NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4) 12 CCGGAAAGTTCAAAGTGAGTG 0.463000 40 27 0 0 0.007291 0 0 BMP5 653 broad.mit.edu 37 6 55639005 55639005 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:55639005C>T uc003pcq.3 - 3 1581 c.869G>A c.(868-870)gGa>gAa p.G290E BMP5_uc011dxf.2_Missense_Mutation_p.G290E NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 290 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TCCCTGTCTTCCCACAAGACC 0.423000 60 28 0 0 0.007291 0 0 CATSPERB 79820 broad.mit.edu 37 14 92170938 92170938 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:92170938C>T uc001xzs.1 - 6 714 c.574G>A c.(574-576)Gat>Aat p.D192N NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 192 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AATGCCACATCATTGGCACAG 0.383000 60 35 0 0 0.012213 0 0 abParts 0 broad.mit.edu 37 14 107276045 107276045 + Splice_Site SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:107276045G>A uc021ser.1 - 5 c.258_splice c.e5-1 Parts of antibodies, mostly variable regions. TGGAGCCTGGGAAACCGAGCT 0.517000 2 3 0 0 0.000602 0 0 OR8B8 26493 broad.mit.edu 37 11 124310277 124310277 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:124310277G>A uc010sal.2 - 0 705 c.705C>T c.(703-705)tcC>tcT p.S235S NM_012378 NP_036510 Q15620 OR8B8_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA. 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TGAAGGCTTTGGACCTGCCCT 0.468000 53 46 0 0 0.014410 0 0 PRDM2 7799 broad.mit.edu 37 1 14105501 14105501 + Missense_Mutation SNP A C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:14105501A>C uc001avi.3 + 7 2067 c.1211A>C c.(1210-1212)aAc>aCc p.N404T PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.N404T|PRDM2_uc021ogk.1_Missense_Mutation_p.N167T|PRDM2_uc001avk.3_Missense_Mutation_p.N203T|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA. 404 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ACACAGATTAACCGGCGGCGA 0.517000 34 20 0 0 0.012319 0 0 PLG 5340 broad.mit.edu 37 6 161152796 161152796 + Silent SNP G A A rs141539231 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:161152796G>A uc003qtm.4 + 11 1570 c.1458G>A c.(1456-1458)ggG>ggA p.G486G NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 486 Kringle 5. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity p.G486G(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TTGGGAATGGGAAAGGATACC 0.498000 8 28 0 0 0.007291 0 0 SOX4 6659 broad.mit.edu 37 6 21595096 21595096 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:21595096G>A uc003ndi.3 + 0 1125 c.331G>A c.(331-333)Gag>Aag p.E111K NM_003107 NP_003098 Q06945 SOX4_HUMAN Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA. 111 DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|T cell differentiation|canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development mitochondrion|nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|core promoter sequence-specific DNA binding|protein binding kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) TTTCATTCGAGAGGCGGAGCG 0.602000 5 12 0 0 0.010729 0 0 ZBED2 79413 broad.mit.edu 37 3 111312403 111312403 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:111312403G>A uc003dxy.3 - 1 1547 c.646C>T c.(646-648)Cat>Tat p.H216Y CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.H216Y NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA. 216 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 TAAACAAAATGGAAGGGATGT 0.453000 22 14 0 0 0.004007 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85492149 85492149 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:85492149G>A uc001tac.3 + 11 3015 c.2904G>A c.(2902-2904)ttG>ttA p.L968L LRRIQ1_uc021rbo.1_Silent_p.L846L NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 968 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TAGAATCTTTGAAAAATCTTC 0.313000 14 11 0 0 0.010729 0 0 C2orf65 130951 broad.mit.edu 37 2 74842097 74842097 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:74842097G>A uc002smy.3 - 2 537 c.420C>T c.(418-420)tcC>tcT p.S140S C2orf65_uc010ysa.2_Silent_p.S140S|C2orf65_uc002smz.2_Silent_p.S140S NM_138804 NP_620159 Q8TC57 CB065_HUMAN Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA. 140 RNA processing|chromatin assembly|female gamete generation|spermatogenesis integral to membrane endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 21 TTACCTCCAGGGAGGTATAGG 0.468000 25 18 0 0 0.004990 0 0 PROC 5624 broad.mit.edu 37 2 128186044 128186044 + Missense_Mutation SNP T G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:128186044T>G uc002tol.3 + 8 998 c.971T>G c.(970-972)cTg>cGg p.L324R PROC_uc002tok.3_Missense_Mutation_p.L303R|PROC_uc010yzi.2_Missense_Mutation_p.L359R|PROC_uc010yzj.2_Missense_Mutation_p.L198R|PROC_uc010yzk.2_Missense_Mutation_p.L358R NM_000312 NP_000303 P04070 PROC_HUMAN Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA. 303 Peptidase S1. G -> R (in ADPROCD). blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) ATCGCACTGCTGCACCTGGCC 0.647000 31 28 0 0 0.006320 0 0 TXLNB 167838 broad.mit.edu 37 6 139564297 139564297 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:139564297G>A uc021zfy.1 - 9 1586 c.1421C>T c.(1420-1422)tCc>tTc p.S474F NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN Homo sapiens taxilin beta (TXLNB), mRNA. 474 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) CTCTTCATCGGAGTTGTGCTG 0.463000 12 47 0 0 0.014410 0 0 PRSS54 221191 broad.mit.edu 37 16 58314215 58314215 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:58314215C>T uc002enf.3 - 6 1496 c.1101G>A c.(1099-1101)agG>agA p.R367R PRSS54_uc002eng.3_Silent_p.R367R|PRSS54_uc010vie.2_Silent_p.R268R|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN Homo sapiens protease, serine, 54 (PRSS54), mRNA. 367 proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CTGCAAAAATCCTACCTTCCC 0.473000 19 18 0 0 0.006122 0 0 COL9A2 1298 broad.mit.edu 37 1 40771413 40771413 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:40771413C>T uc001cfh.1 - 20 1193 c.1081G>A c.(1081-1083)Gga>Aga p.G361R COL9A2_uc001cfi.1_Missense_Mutation_p.G180R NM_001852 NP_001843 Q14055 CO9A2_HUMAN Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA. 361 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CCAGAGAATCCAGGAAGGCCC 0.612000 34 17 0 0 0.004990 0 0 CARD10 29775 broad.mit.edu 37 22 37892455 37892455 + Splice_Site SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:37892455C>T uc003asx.1 - 13 2076 c.2059_splice c.e13+1 p.A687_splice CARD10_uc003ast.1_Splice_Site|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Intron|CARD10_uc003asw.1_Splice_Site_p.A401_splice|CARD10_uc003asy.1_Splice_Site_p.A687_splice NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA. 687 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) GCCAGACTTACCCTTCGAGTC 0.647000 33 21 0 0 0.003954 0 0 DNAH8 1769 broad.mit.edu 37 6 38791338 38791338 + Splice_Site SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:38791338G>A uc021yzh.1 + 28 3830 c.3721_splice c.e28-1 p.E1241_splice DNAH8_uc003ooe.2_Splice_Site_p.E1024_splice NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTTACCACAGGAATTTTTGGC 0.308000 25 40 0 0 0.013114 0 0 PRDM2 7799 broad.mit.edu 37 1 14105503 14105503 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:14105503C>T uc001avi.3 + 7 2069 c.1213C>T c.(1213-1215)Cgg>Tgg p.R405W PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.R405W|PRDM2_uc021ogk.1_Missense_Mutation_p.R168W|PRDM2_uc001avk.3_Missense_Mutation_p.R204W|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA. 405 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ACAGATTAACCGGCGGCGACA 0.517000 34 22 0 0 0.014323 0 0 DNAH5 1767 broad.mit.edu 37 5 13770902 13770902 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:13770902G>A uc003jfd.2 - 55 9603 c.9561C>T c.(9559-9561)ttC>ttT p.F3187F DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3187 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTCCATATATGAACTTATAGC 0.458000 Kartagener syndrome 40 17 0 0 0.006122 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140751468 140751468 + Missense_Mutation SNP T G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140751468T>G uc003ljw.2 + 0 1507 c.1507T>G c.(1507-1509)Tcc>Gcc p.S503A PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.S503A|PCDHGC5_uc011dau.2_5'Flank NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 505 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCTGTCGTCCTACGTGTC 0.652000 37 37 0 0 0.004289 0 0 DENND3 22898 broad.mit.edu 37 8 142151390 142151390 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:142151390C>T uc003yvy.3 + 3 628 c.350C>T c.(349-351)cCc>cTc p.P117L DENND3_uc003yvw.1_Missense_Mutation_p.P130L|DENND3_uc003yvx.3_Missense_Mutation_p.P196S|DENND3_uc010mep.3_Missense_Mutation_p.P130L NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 117 DENN. p.P117S(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TCCAGGTTTCCCTATTACAAC 0.582000 120 58 0 0 0.014410 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540572 169540572 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:169540572G>A uc003fgb.3 + 0 863 c.863G>A c.(862-864)gGa>gAa p.G288E NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA. 288 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 CTCTACCTGGGAAACACCGGC 0.627000 7 19 0 0 0.003330 0 0 LINC00173 100287569 broad.mit.edu 37 12 116972508 116972508 + RNA SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:116972508C>T uc001tvx.1 + 1 c.779C>T LINC00173_uc001tvy.3_Intron Homo sapiens long intergenic non-protein coding RNA 173 (LINC00173), transcript variant 1, non-coding RNA. ACAGTGCCATCATTTACTGCC 0.458000 39 16 0 0 0.003163 0 0 ASH1L 55870 broad.mit.edu 37 1 155450034 155450034 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:155450034G>A uc009wqq.3 - 2 3107 c.2627C>T c.(2626-2628)tCc>tTc p.S876F ASH1L_uc001fkt.3_Missense_Mutation_p.S876F|ASH1L_uc009wqr.1_Missense_Mutation_p.S876F NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA. 876 DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|chromosome|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTGTTTGAAGGAAGGGATTTC 0.418000 143 57 0 0 0.014410 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18158798 18158799 + Missense_Mutation DNP GG AA AA rs143238196 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:18158798_18158799GG>AA uc021qek.1 + 0 49_50 c.49_50GG>AA c.(49-51)gga>AAa p.G17K MRGPRX3_uc001mnu.3_Missense_Mutation_p.G17K NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA. 17 integral to membrane|plasma membrane G-protein coupled receptor activity p.G17R(2) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 ACCAATCAACGGACGTGAGGAG 0.540000 86 44 0 0 0.004672 0 0 PCLO 27445 broad.mit.edu 37 7 82544905 82544905 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:82544905G>A uc003uhx.2 - 6 12686 c.12397C>T c.(12397-12399)Cgt>Tgt p.R4133C PCLO_uc003uhv.2_Missense_Mutation_p.R4133C|PCLO_uc010lec.3_Missense_Mutation_p.R1098C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4064 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTCCCTCTACGAAATTCCTGT 0.408000 41 38 0 0 0.004878 0 0 DSCR10 259234 broad.mit.edu 37 21 39580344 39580344 + RNA SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr21:39580344C>T uc010gnt.2 + 2 c.466C>T Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA. TCCTGGGCTCCAGACAGAAAC 0.587000 58 45 0 0 0.013114 0 0 MXRA5 25878 broad.mit.edu 37 X 3238986 3238986 + Silent SNP T C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:3238986T>C uc004crg.4 - 4 4897 c.4740A>G c.(4738-4740)gtA>gtG p.V1580V NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1580 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TACTACCAAATACTTGCTTTT 0.468000 151 62 0 0 0.014410 0 0 DCHS1 8642 broad.mit.edu 37 11 6648377 6648377 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:6648377G>A uc001mem.1 - 13 6294 c.5893C>T c.(5893-5895)Ctg>Ttg p.L1965L NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA. 1965 Cadherin 19. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGTAGGCGCAGAGGACTGGTG 0.617000 74 43 0 0 0.014410 0 0 PLK2 10769 broad.mit.edu 37 5 57750791 57750791 + Missense_Mutation SNP A C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:57750791A>C uc003jrn.3 - 12 1993 c.1813T>G c.(1813-1815)Tgg>Ggg p.W605G PLK2_uc021xyx.1_Missense_Mutation_p.W591G NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA. 605 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) GATTTTAGCCACTGAAGGAGG 0.428000 129 75 0 0 0.014410 0 0 UBE3B 89910 broad.mit.edu 37 12 109926454 109926454 + Nonsense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:109926454G>A uc001top.3 + 6 1128 c.525G>A c.(523-525)tgG>tgA p.W175* UBE3B_uc001toq.3_Nonsense_Mutation_p.W175*|UBE3B_uc001tom.3_Nonsense_Mutation_p.W175*|UBE3B_uc001ton.3_Nonsense_Mutation_p.W175*|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Nonsense_Mutation_p.W175*|UBE3B_uc001tor.3_Nonsense_Mutation_p.W175* NM_130466 NP_904324 Q7Z3V4 UBE3B_HUMAN Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA. 175 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CTTCAACGTGGAAAATTCTTC 0.458000 133 88 0 0 0.014410 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072568 34072568 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:34072568G>A uc002hjv.2 - 5 1976 c.1948C>T c.(1948-1950)Cct>Tct p.P650S NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA. 650 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTGTCATAAGGACCCCCAGGC 0.632000 97 84 0 0 0.014410 0 0 PIK3R5 23533 broad.mit.edu 37 17 8791773 8791773 + Missense_Mutation SNP T A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:8791773T>A uc002glt.3 - 9 1398 c.1331A>T c.(1330-1332)gAg>gTg p.E444V PIK3R5_uc010vuz.2_Missense_Mutation_p.E444V|PIK3R5_uc021tqc.1_Missense_Mutation_p.E58V|PIK3R5_uc010cob.2_Missense_Mutation_p.E58V|PIK3R5_uc010coa.2_Missense_Mutation_p.E58V|PIK3R5_uc002glu.4_Missense_Mutation_p.E58V NM_014308 NP_001238784 Q8WYR1 PI3R5_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA. 444 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CGAGCTGCCCTCCAGGCTCCG 0.677000 5 9 0 0 0.006214 0 0 POU6F2 11281 broad.mit.edu 37 7 39491250 39491250 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:39491250C>T uc003thb.2 + 8 1495 c.1352C>T c.(1351-1353)tCc>tTc p.S451F POU6F2_uc022acb.1_Missense_Mutation_p.S451F NM_007252 NP_009183 P78424 PO6F2_HUMAN Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA. 451 Ser-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 tcctcttcttcctcctcatcc 0.547000 10 6 0 0 0.001984 0 0 BTNL8 79908 broad.mit.edu 37 5 180326349 180326349 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:180326349G>A uc003mmp.3 + 0 273 c.39G>A c.(37-39)aaG>aaA p.K13K BTNL8_uc003mmq.3_Silent_p.K13K|BTNL8_uc010jll.3_Silent_p.K13K|BTNL8_uc011dhg.2_5'UTR|BTNL8_uc010jlm.3_Silent_p.K13K NM_001040462 NP_001153182 Q6UX41 BTNL8_HUMAN Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA. 13 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) GTCTCCTCAAGCTGGGATCAG 0.458000 136 105 0 0 0.014410 0 0 SLC4A10 57282 broad.mit.edu 37 2 162813628 162813628 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:162813628G>A uc002ubx.4 + 19 2855 c.2671G>A c.(2671-2673)Gaa>Aaa p.E891K SLC4A10_uc010zcs.2_Missense_Mutation_p.E872K|SLC4A10_uc002uby.4_Missense_Mutation_p.E861K NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 891 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CCTAAAACTGGAATCAGAATG 0.478000 16 16 0 0 0.004990 0 0 SOGA1 140710 broad.mit.edu 37 20 35467644 35467644 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:35467644G>A uc021wcx.1 - 1 1228 c.888C>T c.(886-888)atC>atT p.I296I SOGA1_uc002xgd.1_Silent_p.I58I NM_080627 NP_542194 O94964 K0889_HUMAN Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA. 58 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CCAGACCACGGATAAGCTCGC 0.657000 71 42 0 0 0.014410 0 0 MLX 6945 broad.mit.edu 37 17 40722080 40722080 + Missense_Mutation SNP A G G rs143736694 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:40722080A>G uc002iag.3 + 6 784 c.719A>G c.(718-720)aAc>aGc p.N240S MLX_uc002iaf.3_Missense_Mutation_p.N186S|MLX_uc002iah.3_Missense_Mutation_p.N156S NM_170607 NP_733752 Q9UH92 MLX_HUMAN Homo sapiens MAX-like protein X (MLX), transcript variant 3, mRNA. 240 energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process cytoplasm|nucleus DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 10 all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148) BRCA - Breast invasive adenocarcinoma(366;0.129) GTCAAGTTCAACGTGTTTCAA 0.537000 46 36 0 0 0.003271 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996436 140996436 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:140996436G>A uc004fbt.3 + 3 3570 c.3246G>A c.(3244-3246)agG>agA p.R1082R MAGEC1_uc010nsl.2_Silent_p.R149R|MAGEC1_uc022cfi.1_Silent_p.R741R NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 1082 MAGE. protein binding p.R1082G(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCATTAAGAGGAAAGTAGTAG 0.468000 HNSCC(15;0.026) 110 87 0 0 0.014410 0 0 FLNA 2316 broad.mit.edu 37 X 153582086 153582086 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:153582086G>A uc004fkk.2 - 35 5945 c.5696C>T c.(5695-5697)tCt>tTt p.S1899F FLNA_uc011mzn.1_Intron|FLNA_uc010nuu.1_Missense_Mutation_p.S1891F NM_001110556 NP_001104026 P21333 FLNA_HUMAN Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA. 1899 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AATGGCCAGAGACAGGCCCCC 0.632000 OREG0003596 type=REGULATORY REGION|Gene=BC028089|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 7 0 0 0.001984 0 0 COG7 91949 broad.mit.edu 37 16 23424809 23424809 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:23424809G>A uc002dlo.3 - 9 1566 c.1369C>T c.(1369-1371)Ctc>Ttc p.L457F NM_153603 NP_705831 P83436 COG7_HUMAN Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA. 457 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) TCCTGGAAGAGGGAGTTGGGA 0.468000 50 43 0 0 0.011902 0 0 DEFA6 1671 broad.mit.edu 37 8 6782433 6782433 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:6782433G>A uc003wqt.3 - 1 251 c.210C>T c.(208-210)ttC>ttT p.F70F NM_001926 NP_001917 Q01524 DEF6_HUMAN Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA. 70 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) AATGGCAAGTGAAAGCCCTTG 0.493000 10 28 0 0 0.007291 0 0 PCDH18 54510 broad.mit.edu 37 4 138442574 138442574 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:138442574G>A uc003ihe.4 - 3 3404 c.3017C>T c.(3016-3018)tCg>tTg p.S1006L PCDH18_uc003ihf.4_Missense_Mutation_p.S998L|PCDH18_uc011cgz.2_Missense_Mutation_p.S217L|PCDH18_uc003ihg.4_Missense_Mutation_p.S785L|PCDH18_uc011cha.2_Missense_Mutation_p.S186L NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 1006 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GCTCATTTCCGAGAGCAGAGA 0.527000 24 25 0 0 0.007291 0 0 FOXR2 139628 broad.mit.edu 37 X 55650562 55650562 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:55650562C>T uc004duo.3 + 0 730 c.418C>T c.(418-420)Cct>Tct p.P140S NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN Homo sapiens forkhead box R2 (FOXR2), mRNA. 140 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 TGAGCAGTCTCCTTTACAGAA 0.517000 30 21 0 0 0.014323 0 0 MSX2P1 55545 broad.mit.edu 37 17 56235187 56235187 + RNA SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:56235187C>T uc002ivn.3 + 0 c.868C>T Homo sapiens msh homeobox 2 pseudogene 1 (MSX2P1), non-coding RNA. TCAATAGACTCCATGATGGAT 0.532000 31 25 0 0 0.003954 0 0 CD84 8832 broad.mit.edu 37 1 160535385 160535385 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:160535385C>T uc001fwh.4 - 1 276 c.197G>A c.(196-198)gGa>gAa p.G66E CD84_uc001fwf.4_Missense_Mutation_p.G66E|CD84_uc009wtn.3_Missense_Mutation_p.G66E|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Missense_Mutation_p.G66E|CD84_uc001fwj.3_Missense_Mutation_p.G66E|CD84_uc001fwk.3_Missense_Mutation_p.G66E NM_001184879 NP_001171808 Q9UIB8 SLAF5_HUMAN Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA. 66 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TTCTGAGTCTCCTGGTGTTAC 0.428000 74 100 0 0 0.014410 0 0 SEPT6 23157 broad.mit.edu 37 X 118771077 118771077 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:118771077G>A uc004erv.3 - 6 1134 c.869C>T c.(868-870)aCc>aTc p.T290I SEPT6_uc010nqk.3_Intron|SEPT6_uc004ers.3_Missense_Mutation_p.T290I|SEPT6_uc004ert.3_Missense_Mutation_p.T290I|SEPT6_uc004eru.3_Missense_Mutation_p.T290I|SEPT6_uc004erw.3_Missense_Mutation_p.T232I|SEPT6_uc011mtv.1_Missense_Mutation_p.T232I|SEPT6_uc011mtw.1_Missense_Mutation_p.T320I NM_015129 NP_055944 Q14141 SEPT6_HUMAN Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA. 290 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 CCGGGTGTGGGTCTGCTCCCG 0.577000 T MLL AML 51 36 0 0 0.006999 0 0 ATG2A 23130 broad.mit.edu 37 11 64676581 64676581 + Nonsense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:64676581C>T uc001obx.3 - 15 2361 c.2246G>A c.(2245-2247)tGg>tAg p.W749* NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 749 protein binding p.W749C(1) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GGCCACCTCCCACTGTGTGCT 0.647000 32 13 0 0 0.003163 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68249851 68249851 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:68249851G>A uc001xka.2 - 20 4157 c.4018C>T c.(4018-4020)Cgt>Tgt p.R1340C ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.R1340C NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA. 1340 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTGCGGCCACGAAGTTCCTTC 0.592000 60 34 0 0 0.003755 0 0 MGAM 8972 broad.mit.edu 37 7 141802440 141802440 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:141802440G>A uc003vwy.3 + 45 5340 c.5286G>A c.(5284-5286)ggG>ggA p.G1762G NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1762 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATACCTATGGGAAAGGACTCT 0.418000 9 15 0 0 0.002450 0 0 VPS13D 55187 broad.mit.edu 37 1 12371558 12371558 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:12371558C>T uc001atv.3 + 27 6839 c.6698C>T c.(6697-6699)tCc>tTc p.S2233F VPS13D_uc001atw.3_Missense_Mutation_p.S2233F|VPS13D_uc001atx.3_Missense_Mutation_p.S1421F|VPS13D_uc001aty.1_5'UTR NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 2233 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGCAATCTCTCCTCAGTCCAC 0.408000 37 34 0 0 0.003755 0 0 TSIX 9383 broad.mit.edu 37 X 73044289 73044289 + RNA SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:73044289G>A uc004ebn.2 + 0 c.32250G>A XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. tTTGGCTGTGGCTAAATGAAA 0.343000 9 8 0 0 0.006214 0 0 FAM47C 442444 broad.mit.edu 37 X 37027258 37027258 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:37027258C>T uc004ddl.2 + 0 827 c.775C>T c.(775-777)Cac>Tac p.H259Y NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 259 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GTCCAGTCTCCACCTGGAGCC 0.617000 38 47 0 0 0.014410 0 0 QRICH1 54870 broad.mit.edu 37 3 49083867 49083867 + Nonsense_Mutation SNP A T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:49083867A>T uc010hkq.3 - 5 1958 c.1662T>A c.(1660-1662)tgT>tgA p.C554* QRICH1_uc003cvu.3_Nonsense_Mutation_p.C554*|QRICH1_uc003cvv.3_Nonsense_Mutation_p.C554* NM_198880 NP_942581 Q2TAL8 QRIC1_HUMAN Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA. 554 breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CCTTTTGAATACACAGGAAAA 0.388000 43 33 0 0 0.003271 0 0 ACTRT3 84517 broad.mit.edu 37 3 169485997 169485997 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:169485997G>A uc003ffs.2 - 1 717 c.342C>T c.(340-342)aaC>aaT p.N114N NM_032487 NP_115876 Q9BYD9 ARPM1_HUMAN Homo sapiens actin related protein M1 (ARPM1), mRNA. 114 cytoplasm|cytoskeleton TCTGTTGCCGGTTGGCCAGTG 0.498000 5 20 0 0 0.008871 0 0 SAPCD2 89958 broad.mit.edu 37 9 139960001 139960001 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:139960001G>A uc011men.2 - 2 920 c.804C>T c.(802-804)cgC>cgT p.R268R NM_178448 NP_848543 Q86UD0 CI140_HUMAN Homo sapiens chromosome 9 open reading frame 140 (C9orf140), mRNA. 268 cytoplasm|nucleus GGCCCAGGCGGCGCTGGCGCT 0.677000 6 23 0 0 0.002780 0 0 ZNF536 9745 broad.mit.edu 37 19 30934835 30934835 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:30934835C>T uc002nsu.1 + 1 504 c.366C>T c.(364-366)gaC>gaT p.D122D ZNF536_uc010edd.1_Silent_p.D122D NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.D122Y(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ACATCGAGGACGACGCCCGCA 0.637000 38 11 0 0 0.013537 0 0 DFNB31 25861 broad.mit.edu 37 9 117168912 117168912 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:117168912G>A uc004biy.4 - 8 1450 c.810C>T c.(808-810)tcC>tcT p.S270S DFNB31_uc004bix.3_Silent_p.S302S|DFNB31_uc004biz.4_Silent_p.S653S|DFNB31_uc004bja.4_Silent_p.S653S NM_001083885 NP_001077354 Q9P202 WHRN_HUMAN Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA. 653 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CAGGGGAGACGGAGGCATAGA 0.682000 16 42 0 0 0.011902 0 0 TCRA 0 broad.mit.edu 37 14 22476215 22476215 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:22476215G>A uc001wcu.4 + 1 249 c.151G>A c.(151-153)Gat>Aat p.D51N TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc021rpn.1_Missense_Mutation_p.D51N|TCRA_uc010tmm.2_Intron|TCRA_uc001wct.4_3'UTR RecName: Full=T-cell receptor alpha chain V region HPB-MLT; Flags: Precursor; Fragment; TGAAACCCGTGATACTACTTA 0.428000 21 17 0 0 0.004990 0 0 TIE1 7075 broad.mit.edu 37 1 43786956 43786956 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:43786956C>T uc001ciu.3 + 19 3301 c.3124C>T c.(3124-3126)Ctt>Ttt p.L1042F TIE1_uc010oke.2_Missense_Mutation_p.L997F|TIE1_uc009vwq.3_Missense_Mutation_p.L998F|TIE1_uc010okg.2_Missense_Mutation_p.L687F|TIE1_uc021omo.1_Non-coding_Transcript NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 1042 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.V1041V(1)|p.V1041F(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTTTGGAGTCCTTCTTTGGGA 0.552000 76 53 0 0 0.014410 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857890 9857890 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:9857890G>A uc010uym.2 - 13 3821 c.3511C>T c.(3511-3513)Ccc>Tcc p.P1171S GRIN2A_uc002czo.4_Missense_Mutation_p.P1171S|GRIN2A_uc010uyn.2_Missense_Mutation_p.P1014S|GRIN2A_uc002czr.4_Missense_Mutation_p.P1171S NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1171 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTATGCAAGGGGTTCCGGTTC 0.542000 95 78 0 0 0.014410 0 0 abParts 0 broad.mit.edu 37 14 106926339 106926339 + RNA SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:106926339G>A uc021ser.1 - 325 c.11529C>T Parts of antibodies, mostly variable regions. ACTAATAAGAGAGACCCACTC 0.517000 48 42 0 0 0.006999 0 0 SPTLC3 55304 broad.mit.edu 37 20 13134715 13134715 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:13134715G>A uc002wod.1 + 9 1634 c.1345G>A c.(1345-1347)Gga>Aga p.G449R NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA. 449 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GCAGGAAATGGGATTCATTAT 0.423000 34 29 0 0 0.005443 0 0 POTEC 388468 broad.mit.edu 37 18 14534957 14534957 + Missense_Mutation SNP A C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:14534957A>C uc010dln.3 - 3 1314 c.860T>G c.(859-861)gTg>gGg p.V287G POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 287 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAATTTCACCACTTGCTGTTT 0.289000 82 16 0 0 0.008740 0 0 CSPP1 79848 broad.mit.edu 37 8 68049808 68049808 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:68049808C>T uc003xxi.3 + 16 2066 c.2035C>T c.(2035-2037)Cct>Tct p.P679S CSPP1_uc003xxg.1_Missense_Mutation_p.P671S|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.P644S|CSPP1_uc003xxk.3_Missense_Mutation_p.P350S NM_024790 NP_079066 Q1MSJ5 CSPP1_HUMAN Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA. 679 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AGGTGGTGCTCCTCTCAGGGA 0.338000 11 12 0 0 0.013537 0 0 INA 9118 broad.mit.edu 37 10 105048212 105048212 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:105048212C>T uc001kws.3 + 2 1335 c.1286C>T c.(1285-1287)cCt>cTt p.P429L NM_032727 NP_116116 Q16352 AINX_HUMAN Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA. 429 Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) CTGCTCCCACCTAGAATCCTC 0.498000 11 47 0 0 0.014410 0 0 ANKFN1 162282 broad.mit.edu 37 17 54517700 54517700 + Missense_Mutation SNP T C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:54517700T>C uc002iun.1 + 7 967 c.932T>C c.(931-933)aTg>aCg p.M311T NM_153228 NP_694960 Q8N957 ANKF1_HUMAN Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA. 311 Fibronectin type-III. NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 GAATGGAGTATGTCCGAAGAC 0.448000 53 46 0 0 0.014410 0 0 CES2 8824 broad.mit.edu 37 16 66975424 66975424 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:66975424C>T uc002eqr.3 + 6 2123 c.1123C>T c.(1123-1125)Ccc>Tcc p.P375S CES2_uc002eqq.3_Missense_Mutation_p.P375S|CES2_uc002eqs.3_Missense_Mutation_p.P218S NM_003869 NP_003860 O00748 EST2_HUMAN Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA. 311 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CAAGATGATCCCCGGAGTGGT 0.567000 29 18 0 0 0.010504 0 0 DNAH10 196385 broad.mit.edu 37 12 124333344 124333344 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:124333344G>A uc001uft.4 + 32 5688 c.5663G>A c.(5662-5664)cGa>cAa p.R1888Q NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1888 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.R1888Q(1)|p.R480Q(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GAGTTTAATCGAATCGATGCT 0.517000 17 10 0 0 0.008291 0 0 FAM135A 57579 broad.mit.edu 37 6 71238106 71238106 + Missense_Mutation SNP T G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:71238106T>G uc003pfj.3 + 13 3859 c.3726T>G c.(3724-3726)gaT>gaG p.D1242E FAM135A_uc003pfi.3_Missense_Mutation_p.D1046E|FAM135A_uc003pfh.3_Missense_Mutation_p.D1029E|FAM135A_uc003pfl.3_Missense_Mutation_p.D909E|FAM135A_uc003pfn.3_Missense_Mutation_p.D448E|FAM135A_uc003pfo.1_Missense_Mutation_p.D613E|FAM135A_uc010kan.2_Missense_Mutation_p.D21E NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA. 1242 D -> G (in dbSNP:rs2747701). breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 AAGAAGAGGATGGTTCTGAAG 0.403000 32 24 0 0 0.002780 0 0 RERE 473 broad.mit.edu 37 1 8416175 8416175 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:8416175G>A uc001ape.3 - 21 5281 c.4471C>T c.(4471-4473)Cgc>Tgc p.R1491C RERE_uc001apf.3_Missense_Mutation_p.R1491C|RERE_uc001apd.3_Missense_Mutation_p.R937C NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 1491 Pro-rich. NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) ACTGGGTGGCGAAGCATCTCG 0.632000 105 84 0 0 0.014410 0 0 BSND 7809 broad.mit.edu 37 1 55474160 55474160 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:55474160G>A uc001cye.3 + 3 1065 c.822G>A c.(820-822)aaG>aaA p.K274K NM_057176 NP_476517 Q8WZ55 BSND_HUMAN Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA. 274 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 CAAGGACAAAGGTGGAGGAGA 0.597000 24 16 0 0 0.004007 0 0 SLC22A10 387775 broad.mit.edu 37 11 63057665 63057665 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:63057665G>A uc009yor.3 + 0 236 c.28G>A c.(28-30)Gtt>Att p.V10I SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_5'Flank NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA. 10 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTTGAGTCAAGTTGGAGGCCT 0.438000 27 18 0 0 0.006122 0 0 F7 2155 broad.mit.edu 37 13 113771805 113771805 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr13:113771805G>A uc001vsv.3 + 7 751 c.700G>A c.(700-702)Gga>Aga p.G234R F7_uc001vsw.3_Missense_Mutation_p.G212R|F7_uc010tjt.2_Missense_Mutation_p.G165R NM_000131 NP_000122 P08709 FA7_HUMAN Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA. 234 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 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;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GTTGGTGAATGGAGCTCAGTT 0.572000 54 49 0 0 0.014410 0 0 FAM188B 84182 broad.mit.edu 37 7 30962230 30962230 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:30962230G>A uc003tbv.2 + 2 711 c.601G>A c.(601-603)Gtg>Atg p.V201M FAM188B_uc011kac.1_Missense_Mutation_p.V261M|FAM188B_uc010kwf.1_Missense_Mutation_p.V118M|FAM188B_uc010kwh.1_Missense_Mutation_p.V150M|FAM188B_uc022abh.1_Missense_Mutation_p.V86M NM_198098 NP_932766 Q4G0A6 F188B_HUMAN Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA. 0 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGGCTCCGCGGTGATCACACA 0.577000 131 112 0 0 0.014410 0 0 MARCO 8685 broad.mit.edu 37 2 119727775 119727775 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:119727775C>T uc002tln.1 + 2 417 c.285C>T c.(283-285)tcC>tcT p.S95S MARCO_uc010yyf.1_Silent_p.S17S NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 95 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 CGTCCTTCTCCTTGCTGCAGT 0.627000 34 38 0 0 0.006999 0 0 ACOX2 8309 broad.mit.edu 37 3 58517093 58517093 + Splice_Site SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:58517093C>T uc003dkl.3 - 7 879 c.704_splice c.e7-1 p.G235_splice NM_003500 NP_003491 Q99424 ACOX2_HUMAN Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA. 235 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) AATGATGATTCCTTGAAGGAG 0.507000 28 14 0 0 0.002450 0 0 ADAP2 55803 broad.mit.edu 37 17 29261253 29261253 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:29261253C>T uc010csk.3 + 4 745 c.466C>T c.(466-468)Ctg>Ttg p.L156L ADAP2_uc002hfy.3_Silent_p.L150L|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Silent_p.L150L NM_018404 NP_060874 Q9NPF8 ADAP2_HUMAN Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA. 150 PH 1. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CTCACAGTTTCTGAGAAGGAA 0.483000 29 20 0 0 0.002780 0 0 CD101 9398 broad.mit.edu 37 1 117560848 117560848 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:117560848C>T uc010oxb.1 + 5 1741 c.1683C>T c.(1681-1683)tcC>tcT p.S561S CD101_uc009whd.3_Silent_p.S561S|CD101_uc010oxc.1_Silent_p.S561S|CD101_uc010oxd.1_Silent_p.S499S NM_004258 NP_004249 Q93033 IGSF2_HUMAN Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA. 561 Ig-like C2-type 5. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTGACCTGTCCTGTGTCGTGA 0.478000 17 14 0 0 0.004007 0 0 PHF3 23469 broad.mit.edu 37 6 64404537 64404537 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:64404537C>T uc003pep.1 + 4 2588 c.2563C>T c.(2563-2565)Cct>Tct p.P855S PHF3_uc010kaf.1_Missense_Mutation_p.P855S|PHF3_uc003pem.2_Missense_Mutation_p.P808S|PHF3_uc010kag.1_Missense_Mutation_p.P767S|PHF3_uc010kah.1_Missense_Mutation_p.P669S|PHF3_uc003pen.2_Missense_Mutation_p.P767S|PHF3_uc011dxs.1_Missense_Mutation_p.P124S NM_015153 NP_055968 Q92576 PHF3_HUMAN Homo sapiens PHD finger protein 3 (PHF3), mRNA. 855 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GCAGCTAGCTCCTCTTCGTAA 0.378000 86 53 0 0 0.014410 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43577766 43577766 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:43577766G>A uc002lbp.4 - 8 687 c.591C>T c.(589-591)acC>acT p.T197T PSTPIP2_uc002lbq.4_Silent_p.T197T NM_024430 NP_077748 Q9H939 PPIP2_HUMAN Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA. 197 membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 CCTTATCCAGGGTGCCGATGT 0.587000 69 46 0 0 0.014410 0 0 LRPPRC 10128 broad.mit.edu 37 2 44209439 44209439 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:44209439C>T uc002rtr.2 - 1 342 c.284G>A c.(283-285)cGa>cAa p.R95Q LRPPRC_uc010yob.1_Intron|LRPPRC_uc010faw.1_Missense_Mutation_p.R69Q NM_133259 NP_573566 P42704 LPPRC_HUMAN Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA. 95 mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm RNA binding|beta-tubulin binding|microtubule binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GCCAGTTCTTCGAACAGAAAG 0.378000 199 128 0 0 0.014410 0 0 LY6G6C 80740 broad.mit.edu 37 6 31686890 31686890 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:31686890G>A uc003nwh.3 - 2 416 c.361C>T c.(361-363)Ctc>Ttc p.L121F LY6G6C_uc010jtd.3_Non-coding_Transcript NM_025261 NP_079537 O95867 LY66C_HUMAN Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA. 121 anchored to membrane|plasma membrane NS(1)|large_intestine(1)|lung(1)|skin(1) 4 AGCAGCCAGAGGCCAAGGCCA 0.607000 363 156 0 0 0.014410 0 0 RYR2 6262 broad.mit.edu 37 1 237798220 237798220 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:237798220G>A uc001hyl.1 + 43 6840 c.6720G>A c.(6718-6720)ctG>ctA p.L2240L NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 2240 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.V2240L(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAACACCACTGGATGTGGCTG 0.423000 16 7 0 0 0.003080 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795544 142795544 + Missense_Mutation SNP T A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:142795544T>A uc004fbz.3 - 1 888 c.134A>T c.(133-135)aAa>aTa p.K45I NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN Homo sapiens SPANX family, member N2 (SPANXN2), mRNA. 45 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTCTATTGTTTTTGTCTTTTG 0.413000 43 26 0 0 0.004656 0 0 OR2F2 135948 broad.mit.edu 37 7 143633082 143633082 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:143633082G>A uc011ktv.2 + 0 757 c.757G>A c.(757-759)Ggc>Agc p.G253S NM_001004685 NP_001004685 O95006 OR2F2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA. 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y252Y(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) CCTGTGCTACGGCACAACGAT 0.512000 11 75 0 0 0.014410 0 0 OR51F2 119694 broad.mit.edu 37 11 4843571 4843571 + Missense_Mutation SNP A G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:4843571A>G uc010qyn.2 + 0 956 c.956A>G c.(955-957)aAg>aGg p.K319R NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA. 319 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I318I(1) breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCATTATCAAGGTCTTAATT 0.368000 60 41 0 0 0.010771 0 0 STAB1 23166 broad.mit.edu 37 3 52547918 52547918 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:52547918G>A uc003dej.3 + 31 3442 c.3368G>A c.(3367-3369)gGg>gAg p.G1123E NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 1123 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.R1122R(1)|p.R1122fs*37(1) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCCCCCCGAGGGGATGTGCCC 0.622000 108 56 0 0 0.014410 0 0 LPA 4018 broad.mit.edu 37 6 160998268 160998268 + Nonsense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:160998268G>A uc003qtl.3 - 28 4651 c.4531C>T c.(4531-4533)Cga>Tga p.R1511* NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 4019 Kringle 14. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.R1511L(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GATATGCCTCGATAACTCCGT 0.453000 13 52 0 0 0.014410 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946364 16946364 + RNA SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:16946364G>A uc010ocf.2 - 2 c.534C>T CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA. TCTCGGCCAGGAGGAGGCCCT 0.657000 14 3 0 0 0.004672 0 0 PASD1 139135 broad.mit.edu 37 X 150832597 150832597 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:150832597C>T uc004fev.4 + 10 1180 c.848C>T c.(847-849)tCc>tTc p.S283F NM_173493 NP_775764 Q8IV76 PASD1_HUMAN Homo sapiens PAS domain containing 1 (PASD1), mRNA. 283 nucleus signal transducer activity p.S283F(3) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TCAGCCTTATCCTTGCAAGAC 0.473000 60 26 0 0 0.006320 0 0 PTPRT 11122 broad.mit.edu 37 20 40727111 40727111 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:40727111C>T uc002xkg.3 - 26 3980 c.3796G>A c.(3796-3798)Gat>Aat p.D1266N PTPRT_uc010ggj.3_Missense_Mutation_p.D1285N|PTPRT_uc010ggi.3_Missense_Mutation_p.D469N NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1266 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.D1288N(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CAGTTGTAATCGAACACCAGC 0.587000 18 35 0 0 0.004878 0 0 SLC9C1 285335 broad.mit.edu 37 3 111996575 111996575 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:111996575G>A uc003dyu.3 - 4 673 c.451C>T c.(451-453)Ccc>Tcc p.P151S SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.P151S NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA. 151 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity p.P151T(1) GTTAGCATGGGATCTGAACTC 0.318000 35 46 0 0 0.014410 0 0 MOCS1 4337 broad.mit.edu 37 6 39895171 39895171 + Silent SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:39895171G>A uc003opb.3 - 0 285 c.147C>T c.(145-147)ttC>ttT p.F49F MOCS1_uc003opa.3_Silent_p.F49F|MOCS1_uc003opd.3_Silent_p.F49F|MOCS1_uc003ope.3_Intron NM_005943 NP_005934 Q9NZB8 MOCS1_HUMAN Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA. 49 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) GCTCCCGCAGGAACTGCCTCC 0.657000 11 21 0 0 0.008871 0 0 ROBO4 54538 broad.mit.edu 37 11 124757060 124757060 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:124757060G>A uc001qbg.3 - 14 2388 c.2248C>T c.(2248-2250)Ccc>Tcc p.P750S ROBO4_uc010sas.2_Missense_Mutation_p.P605S|ROBO4_uc001qbh.2_Missense_Mutation_p.P640S|ROBO4_uc001qbi.3_Missense_Mutation_p.P308S NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA. 750 Pro/Ser-rich. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) ATGGGGATGGGGGCTGCTGGC 0.637000 42 41 0 0 0.006999 0 0 ZBTB11 27107 broad.mit.edu 37 3 101383815 101383815 + Missense_Mutation SNP A G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:101383815A>G uc003dve.4 - 3 1846 c.1616T>C c.(1615-1617)gTt>gCt p.V539A NM_014415 NP_055230 O95625 ZBT11_HUMAN Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA. 539 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TACCTGTTGAACTGCTGACTT 0.398000 63 50 0 0 0.014410 0 0 FBXO38 81545 broad.mit.edu 37 5 147785841 147785841 + Missense_Mutation SNP A T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:147785841A>T uc003lpf.1 + 6 872 c.752A>T c.(751-753)tAt>tTt p.Y251F FBXO38_uc003lpg.1_Missense_Mutation_p.Y251F|FBXO38_uc003lph.2_Missense_Mutation_p.Y251F NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA. 251 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTTGAAATATGTCCCTTTA 0.358000 39 29 0 0 0.008361 0 0 LOC442132 442132 broad.mit.edu 37 5 7303853 7303853 + RNA SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:7303853C>T uc003jdy.2 - 4 c.501G>A Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA. CTTCAAATTTCCTGGCAGCAT 0.502000 7 12 0 0 0.002450 0 0 PRDM1 639 broad.mit.edu 37 6 106552701 106552701 + Splice_Site SNP A T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:106552701A>T uc003prd.2 + 5 899 c.665_splice c.e5-1 p.T222_splice PRDM1_uc003pre.3_Splice_Site_p.T88_splice NM_001198 NP_001189 O75626 PRDM1_HUMAN Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA. 222 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T186fs*9(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TTATTTCAGCACAAACACAGA 0.428000 """D, N, Mis, F, S""" DLBCL 117 76 0 0 0.014410 0 0 SFMBT2 57713 broad.mit.edu 37 10 7230608 7230608 + Nonsense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:7230608G>A uc009xio.2 - 15 1877 c.1786C>T c.(1786-1788)Cag>Tag p.Q596* SFMBT2_uc001ijn.2_Nonsense_Mutation_p.Q596*|SFMBT2_uc010qay.2_Nonsense_Mutation_p.Q431* NM_001018039 NP_001018049 Q5VUG0 SMBT2_HUMAN Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA. 596 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 GTCTCTTCCTGGAAATTCCAG 0.428000 11 36 0 0 0.006230 0 0 SGOL2 151246 broad.mit.edu 37 2 201438006 201438006 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:201438006C>T uc002uvw.2 + 6 3050 c.2937C>T c.(2935-2937)tcC>tcT p.S979S SGOL2_uc010zhd.1_Silent_p.S979S|SGOL2_uc010zhe.1_Silent_p.S979S NM_152524 NP_689737 Q562F6 SGOL2_HUMAN Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA. 979 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 TTTTAGATTCCTACAAAGTAG 0.294000 32 21 0 0 0.010504 0 0 ERC2 26059 broad.mit.edu 37 3 56330286 56330286 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:56330286G>A uc021wzo.1 - 1 975 c.835C>T c.(835-837)Ctt>Ttt p.L279F ERC2_uc003dhr.1_Missense_Mutation_p.L279F NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 279 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TTCCTCAAAAGGAACAGCTCC 0.493000 168 100 0 0 0.014410 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104728345 104728345 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:104728345G>A uc004elz.1 + 5 1494 c.738G>A c.(736-738)atG>atA p.M246I NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA. 246 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGTTCCCCATGGAGAATCAGC 0.413000 53 36 0 0 0.008740 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140751744 140751744 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140751744G>A uc003ljw.2 + 0 1783 c.1783G>A c.(1783-1785)Gac>Aac p.D595N PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.D595N|PCDHGC5_uc011dau.2_5'Flank NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 596 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGCGGTGGACGCAGACTC 0.667000 55 32 0 0 0.013726 0 0 TCRBV21S1 0 broad.mit.edu 37 7 142223937 142223937 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:142223937G>A uc003vyi.2 - 1 247 c.230C>T c.(229-231)tCa>tTa p.S77L TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron SubName: Full=V_segment translation product; Flags: Fragment; AGGCAACTGTGAATCATCTAC 0.517000 20 36 0 0 0.003755 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178541288 178541288 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:178541288C>T uc003mjw.3 - 21 3318 c.3216G>A c.(3214-3216)agG>agA p.R1072R NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 1072 PLAC. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) AGACTTCCATCCTACAGAATA 0.498000 22 20 0 0 0.014323 0 0 ZFHX3 463 broad.mit.edu 37 16 72992789 72992789 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:72992789G>A uc002fck.3 - 1 1929 c.1256C>T c.(1255-1257)cCc>cTc p.P419L ZFHX3_uc002fcl.3_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 419 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGGCCCCAGGGGGACTGAGGT 0.637000 82 54 0 0 0.014410 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76572100 76572100 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:76572100C>T uc002fex.1 + 17 3231 c.3092C>T c.(3091-3093)gCt>gTt p.A1031V CNTNAP4_uc002feu.1_Missense_Mutation_p.A1027V|CNTNAP4_uc002fev.1_Missense_Mutation_p.A892V|CNTNAP4_uc010chb.1_Missense_Mutation_p.A955V NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 1028 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 AGCTCCCACGCTGCTTCATTT 0.363000 28 21 0 0 0.008871 0 0 DHX38 9785 broad.mit.edu 37 16 72142723 72142723 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:72142723C>T uc002fcb.3 + 23 3635 c.3280C>T c.(3280-3282)Cgc>Tgc p.R1094C DHX38_uc010vmp.2_Missense_Mutation_p.R406C NM_014003 NP_054722 Q92620 PRP16_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA. 1094 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.R1094L(1) endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) CGTGAACATCCGCACAGGGAT 0.542000 17 9 0 0 0.004482 0 0 DOCK8 81704 broad.mit.edu 37 9 340242 340242 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:340242C>T uc003zgf.2 + 13 1712 c.1600C>T c.(1600-1602)Cct>Tct p.P534S DOCK8_uc011lls.1_Missense_Mutation_p.P534S|DOCK8_uc022bcu.1_Missense_Mutation_p.P466S|DOCK8_uc010mgv.3_Missense_Mutation_p.P466S|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc003zgg.3_Missense_Mutation_p.P466S|DOCK8_uc022bct.1_Non-coding_Transcript NM_203447 NP_001180465 Q8NF50 DOCK8_HUMAN Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA. 534 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GAAACCCTTTCCTGAAAACCG 0.468000 12 35 0 0 0.004289 0 0 IQCA1 79781 broad.mit.edu 37 2 237272552 237272553 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:237272552_237272553CC>TT uc002vwb.2 - 14 1797_1798 c.1763_1764GG>AA c.(1762-1764)ggg>gAA p.G588E IQCA1_uc002vvz.1_Missense_Mutation_p.G580E|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.G539E NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA. 580 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 GCATTTTCTTCCCTACCCCAGA 0.510000 44 29 0 0 0.004672 0 0 EFNA3 1944 broad.mit.edu 37 1 155039319 155039320 + Missense_Mutation DNP AC TT TT TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:155039319_155039320AC>TT uc001fhc.3 + 1 314_315 c.227_228AC>TT c.(226-228)tac>tTT p.Y76F EFNA3_uc010pew.2_Intron|LOC100505666_uc021pan.1_5'Flank|EFNA3_uc001fhd.3_Missense_Mutation_p.Y76F|EFNA3_uc001fhe.3_Missense_Mutation_p.Y76F NM_182689 NP_872631 P52797 EFNA3_HUMAN Homo sapiens ephrin-A4 (EFNA4), transcript variant 2, mRNA. 89 cell-cell signaling anchored to membrane|integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193) TTTGCTTTGTACATGGTGGACT 0.629000 25 32 0 0 0.004672 0 0 APOB 338 broad.mit.edu 37 2 21238130 21238130 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:21238130C>T uc002red.3 - 22 3639 c.3511G>A c.(3511-3513)Gaa>Aaa p.E1171K NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1171 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.E1171K(2) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATCTTCTCTTCATCTGAAAAT 0.408000 198 139 0 0 0.014410 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939636 12939636 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:12939636C>T uc001aun.2 - 3 1237 c.1166G>A c.(1165-1167)gGa>gAa p.G389E NM_001009611 NP_001009611 O60810 PRAM4_HUMAN Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. 389 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GATGGGATTTCCACAGAAGCT 0.522000 173 130 0 0 0.014410 0 0 CNR2 1269 broad.mit.edu 37 1 24202038 24202038 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:24202038C>T uc021oij.1 - 0 70 c.70G>A c.(70-72)Gat>Aat p.D24N CNR2_uc001bif.3_Missense_Mutation_p.D24N NM_001841 NP_001832 P34972 CNR2_HUMAN Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA. 24 G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) ATCATGTAATCCTTCATAGGG 0.537000 73 60 0 0 0.014410 0 0 C4BPA 722 broad.mit.edu 37 1 207287489 207287489 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:207287489G>A uc001hfo.3 + 2 381 c.187G>A c.(187-189)Gat>Aat p.D63N NM_000715 NP_000706 P04003 C4BPA_HUMAN Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA. 63 Sushi 1. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TGCCCCGATGGATATTACGTT 0.478000 113 53 0 0 0.014410 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526002 176526002 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:176526002G>A uc001gkz.3 + 1 1708 c.544G>A c.(544-546)Gaa>Aaa p.E182K PAPPA2_uc001gky.1_Missense_Mutation_p.E182K|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 182 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.E182K(3)|p.E182*(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AACCCTGAACGAACCCAAACC 0.587000 60 108 0 0 0.014410 0 0 TDG 6996 broad.mit.edu 37 12 104373635 104373635 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:104373635C>T uc001tkg.3 + 2 416 c.193C>T c.(193-195)Ccc>Tcc p.P65S TDG_uc010swh.1_Missense_Mutation_p.P65S|TDG_uc009zuk.3_Missense_Mutation_p.P61S|TDG_uc010swi.2_5'UTR|TDG_uc010swj.2_5'UTR NM_003211 NP_003202 Q13569 TDG_HUMAN Homo sapiens thymine-DNA glycosylase (TDG), mRNA. 65 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) AAAAAGAAAACCCAGAACAAC 0.333000 Base excision repair (BER), DNA glycosylases 31 4 0 0 0.009096 0 0 CYP2F1 1572 broad.mit.edu 37 19 41626256 41626256 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:41626256C>T uc002opu.1 + 3 395 c.339C>T c.(337-339)atC>atT p.I113I CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Silent_p.I113I|CYP2F1_uc002opv.1_Non-coding_Transcript NM_000774 NP_000765 P24903 CP2F1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA. 113 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 CCCCAGGCATCGCCTTCTCCA 0.552000 40 117 0 0 0.014410 0 0 CFH 3075 broad.mit.edu 37 1 196706034 196706034 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:196706034G>A uc001gtj.4 + 15 2734 c.2494G>A c.(2494-2496)Gga>Aga p.G832R CFH_uc021pgt.1_Intron NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 832 Sushi 14. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTATCGGGATGGAGAAAAAGT 0.358000 13 22 0 0 0.002780 0 0 IQCA1 79781 broad.mit.edu 37 2 237396737 237396737 + Missense_Mutation SNP T C C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:237396737T>C uc002vwb.2 - 3 609 c.575A>G c.(574-576)aAg>aGg p.K192R IQCA1_uc002vvz.1_Missense_Mutation_p.K185R|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.K185R NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA. 185 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 ATAGATTTGCTTCATGAATAA 0.453000 6 4 0 0 0.000602 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140810729 140810729 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140810729G>A uc003lkt.2 + 0 572 c.403G>A c.(403-405)Gaa>Aaa p.E135K PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.E135K NM_003735 NP_003726 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA. 135 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTACTTTCGTGAAAGTGAATT 0.413000 99 40 0 0 0.007835 0 0 SF3A2 8175 broad.mit.edu 37 19 2243473 2243473 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:2243473C>T uc002lvg.3 + 1 178 c.56C>T c.(55-57)tCc>tTc p.S19F NM_007165 NP_009096 Q15428 SF3A2_HUMAN Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA. 19 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|zinc ion binding NS(1)|large_intestine(1)|lung(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGCCTCCTCCTCCGAGAGC 0.672000 45 36 0 0 0.007835 0 0 RQCD1 9125 broad.mit.edu 37 2 219449406 219449406 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:219449406C>T uc010zkh.2 + 3 392 c.392C>T c.(391-393)cCc>cTc p.P131L RQCD1_uc002vih.1_Missense_Mutation_p.P131L|RQCD1_uc010zki.2_Missense_Mutation_p.P131L NM_005444 NP_005435 Q92600 RCD1_HUMAN Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA. 131 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAAACACGTCCCTTTGAGTAT 0.423000 118 104 0 0 0.014410 0 0 OR10T2 128360 broad.mit.edu 37 1 158369042 158369042 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:158369042G>A uc010pih.2 - 0 215 c.215C>T c.(214-216)tCc>tTc p.S72F NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA. 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) AGTGTAGCAGGACTCAGAAAA 0.502000 21 36 0 0 0.004289 0 0 SCN5A 6331 broad.mit.edu 37 3 38620851 38620851 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:38620851C>T uc021wvo.1 - 16 3416 c.3364G>A c.(3364-3366)Gaa>Aaa p.E1122K SCN5A_uc021wvk.1_Missense_Mutation_p.E1121K|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Missense_Mutation_p.E1122K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1121K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1122K|SCN5A_uc021wvq.1_Missense_Mutation_p.E1121K|SCN5A_uc021wvr.1_Missense_Mutation_p.E1122K|SCN5A_uc021wvs.1_Missense_Mutation_p.E1122K|SCN5A_uc021wvt.1_Missense_Mutation_p.E1121K|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Missense_Mutation_p.E1122K|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Missense_Mutation_p.E988K|SCN5A_uc021wvw.1_Missense_Mutation_p.E732K NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1122 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCCTGGGGTTCCGCTTTCCAC 0.657000 6 5 0 0 0.000602 0 0 LOC399753 399753 broad.mit.edu 37 10 49218498 49218498 + Silent SNP A G G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:49218498A>G uc001jgd.3 - 7 1800 c.1641T>C c.(1639-1641)tcT>tcC p.S547S DQ588224_uc001jge.1_5'Flank Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA. GCTGGCCCAGAGACAGCTCAG 0.582000 64 5 0 0 0.008291 0 0 CHIA 27159 broad.mit.edu 37 1 111854982 111854982 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:111854982C>T uc001eas.3 + 3 383 c.226C>T c.(226-228)Ctc>Ttc p.L76F CHIA_uc001ear.3_Intron|CHIA_uc001eaq.3_Intron|CHIA_uc009wgc.3_Intron|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_Intron|CHIA_uc001eau.3_Intron|CHIA_uc009wgd.3_Intron NM_201653 NP_068569 Q9BZP6 CHIA_HUMAN Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA. 76 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding p.L76V(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) TGATGTGACTCTCTACCAAGC 0.453000 43 33 0 0 0.004878 0 0 MXRA8 54587 broad.mit.edu 37 1 1290450 1290450 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:1290450C>T uc001aex.4 - 4 592 c.561G>A c.(559-561)gtG>gtA p.V187V MXRA8_uc001aew.3_Silent_p.V187V|MXRA8_uc001aey.4_Silent_p.V187V|MXRA8_uc001aez.3_Silent_p.V86V|MXRA8_uc001afa.3_Silent_p.V178V NM_032348 NP_115724 Q9BRK3 MXRA8_HUMAN Homo sapiens matrix-remodelling associated 8 (MXRA8), mRNA. 187 Ig-like V-type 2. integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCCCGCGGTTCACGCAGGTCA 0.766000 3 7 0 0 0.008291 0 0 MSRA 4482 broad.mit.edu 37 8 10159066 10159066 + Silent SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:10159066C>T uc003wsx.3 + 3 551 c.354C>T c.(352-354)gtC>gtT p.V118V MSRA_uc011kwx.2_Silent_p.V78V|MSRA_uc011kwy.1_Silent_p.V75V|MSRA_uc003wsy.3_Silent_p.V52V|MSRA_uc003wsz.3_Silent_p.V75V NM_012331 NP_001186658 Q9UJ68 MSRA_HUMAN Homo sapiens methionine sulfoxide reductase A (MSRA), transcript variant 1, mRNA. 118 methionine metabolic process|protein modification process|response to oxidative stress mitochondrion|nucleus peptide-methionine-(S)-S-oxide reductase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4) 8 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) ATGCAGAAGTCGTCCGAGTGG 0.428000 8 21 0 0 0.012319 0 0 HBB 3043 broad.mit.edu 37 11 5247992 5247992 + Missense_Mutation SNP C T T rs41417446 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:5247992C>T uc001mae.1 - 1 180 c.130G>A c.(130-132)Gag>Aag p.E44K CoTC_ribozyme_uc021qcu.1_5'Flank NM_000518 NP_000509 P68871 HBB_HUMAN Homo sapiens hemoglobin, beta (HBB), mRNA. 44 E -> Q (in Hoshida/Chaya). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) CCAAAGGACTCAAAGAACCTC 0.527000 Sickle Cell Trait 34 28 0 0 0.009535 0 0 GPR98 84059 broad.mit.edu 37 5 89979464 89979464 + Missense_Mutation SNP C T T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:89979464C>T uc003kju.3 + 27 5822 c.5726C>T c.(5725-5727)cCt>cTt p.P1909L GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1909 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GACTCTGATCCTGATGGTGAT 0.413000 15 11 0 0 0.010729 0 0 LILRB4 11006 broad.mit.edu 37 19 55179188 55179188 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:55179188G>A uc002qgp.3 + 10 1506 c.1144G>A c.(1144-1146)Gaa>Aaa p.E382K LILRB4_uc002qgq.3_Missense_Mutation_p.E381K|LILRB4_uc010ert.3_Missense_Mutation_p.E423K|LILRB4_uc010eru.3_Missense_Mutation_p.E412K NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 382 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) ACTGTCTGGGGAATTCCTGGA 0.592000 71 13 0 0 0.002450 0 0 SNX13 23161 broad.mit.edu 37 7 17833866 17833866 + Missense_Mutation SNP G A A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:17833866G>A uc003stv.3 - 25 2890 c.2677C>T c.(2677-2679)Cgt>Tgt p.R893C SNX13_uc010kuc.3_Missense_Mutation_p.R690C|SNX13_uc003stw.1_3'UTR|SNX13_uc010kub.3_Missense_Mutation_p.R299C NM_015132 NP_055947 Q9Y5W8 SNX13_HUMAN Homo sapiens sorting nexin 13 (SNX13), mRNA. 904 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) TCAAAAACACGAAGAATACCT 0.363000 18 11 0 0 0.008291 0 0 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG - - TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:120612003_120612004delGG uc001eik.3 - 0 314_315 c.17_18delCC c.(16-18)cccfs p.P6fs NOTCH2_uc001eil.3_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.4_5'UTR NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 6 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(4) 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) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome --- 43 --- --- 9 --- OR2T29 343563 broad.mit.edu 37 1 248722428 248722429 + Frame_Shift_Ins INS - CG CG TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:248722428_248722429insCG uc001ieo.2 - 0 364_365 c.364_365insCG c.(364-366)atgfs p.M122fs NM_001004694 NP_001004694 Q8NH02 O2T29_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 29 (OR2T29), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|lung(4) 5 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTCATAGGCCATGGTGGCTAGA 0.540 --- 4 --- --- 3 --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT - - rs59413596 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:47788664_47788669delGGTGGT uc009ylv.3 - 0 325_330 c.172_177delACCACC c.(172-177)accaccdel p.TT58del FNBP4_uc001ngj.3_5'UTR|FNBP4_uc001ngl.2_Non-coding_Transcript NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN Homo sapiens formin binding protein 4 (FNBP4), mRNA. 58 p.T58_T59delTT(6) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 --- 10 --- --- 6 --- TYR 7299 broad.mit.edu 37 11 88911404 88911412 + In_Frame_Del DEL TTCATGGGA - - rs61753252 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:88911404_88911412delTTCATGGGA uc001pcs.3 + 0 365_373 c.283_291delTTCATGGGA c.(283-291)ttcatgggadel p.FMG95del NM_000372 NP_000363 P14679 TYRO_HUMAN Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA. 95 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CTCTGGCAACTTCATGGGATTCAACTGTG 0.507 --- 32 --- --- 12 --- BC067347 0 broad.mit.edu 37 17 20744542 20744546 + RNA DEL CGCAC - - TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:20744542_20744546delCGCAC uc010crb.2 + 0 c.202_206delCGCAC Homo sapiens cDNA clone IMAGE:6269068, partial cds. CCTCCTCGGGCGCACCGCACCCGGG 0.722 --- 10 --- --- 9 ---