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 SNX31 169166 broad.mit.edu 37 8 101596393 101596393 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:101596393C>T uc003yjr.3 - 11 1267 c.1116G>A c.(1114-1116)ttG>ttA p.L372L SNX31_uc011lha.2_Silent_p.L167L|SNX31_uc011lhb.2_Silent_p.L273L NM_152628 NP_689841 Q8N9S9 SNX31_HUMAN Homo sapiens sorting nexin 31 (SNX31), mRNA. 372 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) TCATCTTTTTCAAGCAGCTAC 0.393000 12 44 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50438877 50438877 + Missense_Mutation SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:50438877T>C uc004dpe.2 - 1 204 c.178A>G c.(178-180)Aat>Gat p.N60D SHROOM4_uc004dpd.3_Non-coding_Transcript NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA. 60 PDZ. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CCATTGATATTCACCAGCTCA 0.483000 9 13 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204313555 204313555 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:204313555G>A uc002vad.3 - 10 1643 c.1418C>T c.(1417-1419)cCa>cTa p.P473L RAPH1_uc002vae.3_Missense_Mutation_p.P525L|RAPH1_uc002vaf.3_Missense_Mutation_p.P525L NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA. 473 PH. cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTGGATTTGTGGATGCTGCAA 0.378000 43 9 0 0 1 0 0 OLFML2A 169611 broad.mit.edu 37 9 127563717 127563717 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:127563717G>A uc004bov.3 + 4 807 c.694G>A c.(694-696)Gac>Aac p.D232N OLFML2A_uc010mwr.1_Missense_Mutation_p.D196N|OLFML2A_uc004bow.3_Missense_Mutation_p.D18N NM_182487 NP_872293 Q68BL7 OLM2A_HUMAN Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA. 232 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 AAAAGGCAAGGACATCAGCAA 0.517000 52 22 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50450395 50450395 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:50450395G>A uc003tow.4 + 4 734 c.579G>A c.(577-579)agG>agA p.R193R IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Silent_p.R106R|IKZF1_uc022acu.1_Silent_p.R106R|IKZF1_uc003tox.4_Silent_p.R193R|IKZF1_uc022acv.1_Silent_p.R106R|IKZF1_uc022acw.1_Silent_p.R106R|IKZF1_uc022acx.1_Silent_p.R193R|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Silent_p.R106R|IKZF1_uc003toy.4_Silent_p.R193R|IKZF1_uc003toz.4_Silent_p.R163R|IKZF1_uc010kyx.3_Intron NM_006060 NP_006051 Q13422 IKZF1_HUMAN Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA. 193 Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity). cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GCCACCTGAGGACGCACTCCG 0.657000 """D,T""" BCL6 """ALL, DLBCL""" 13 8 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70966503 70966503 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:70966503C>T uc003pfg.4 - 20 1630 c.1471G>A c.(1471-1473)Gaa>Aaa p.E491K COL9A1_uc003pfe.4_Missense_Mutation_p.E64K|COL9A1_uc003pff.4_Missense_Mutation_p.E248K NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 491 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GGCCCAGGTTCACCATCTAAG 0.398000 9 8 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50190418 50190418 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:50190418C>T uc001zxu.3 - 21 2462 c.2320G>A c.(2320-2322)Gat>Aat p.D774N ATP8B4_uc010ber.3_Missense_Mutation_p.D647N|ATP8B4_uc010ufd.2_Missense_Mutation_p.D584N|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_Missense_Mutation_p.D72N NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 774 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCTAGGAGATCATTCTTGACA 0.393000 30 14 0 0 1 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227540 56227540 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:56227540C>T uc002xyq.3 - 3 826 c.433G>A c.(433-435)Gac>Aac p.D145N PMEPA1_uc002xyr.3_Missense_Mutation_p.D95N|PMEPA1_uc002xys.3_Missense_Mutation_p.D110N|PMEPA1_uc002xyt.3_Missense_Mutation_p.D95N NM_020182 NP_954640 Q969W9 PMEPA_HUMAN Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA. 145 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GGTGGCAGGTCGATCTCGTGC 0.711000 8 4 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79025799 79025799 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:79025799G>A uc003kgc.3 + 1 1283 c.1211G>A c.(1210-1212)gGa>gAa p.G404E NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 404 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GCTTCACCAGGAACTGCAGCT 0.453000 16 12 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10928639 10928639 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:10928639C>T uc003mzo.3 + 17 1740 c.1444C>T c.(1444-1446)Cag>Tag p.Q482* SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.3_Nonsense_Mutation_p.Q102* NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA. 482 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) gccatagcttcagccggtccc 0.448000 12 25 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322726 55322726 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55322726C>T uc010rig.2 + 0 944 c.944C>T c.(943-945)cCa>cTa p.P315L NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA. 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P315A(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 ACACGACCTCCATCTGCTTTT 0.393000 HNSCC(20;0.049) 104 48 0 0 1 0 0 POU5F1P4 645682 broad.mit.edu 37 1 155403369 155403369 + RNA SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:155403369C>T uc010pgc.1 - 0 c.105G>A ASH1L_uc001fkt.3_Intron|ASH1L_uc009wqq.3_Intron|POU5F1P4_uc010pgd.2_Missense_Mutation_p.P126L Homo sapiens partial mRNA for POU class 5 homeobox 1 pseudogene 4, clone BM-TAKA-09_AS. GAGCAAAACCCGCAGGAGTCC 0.567000 6 4 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21467054 21467054 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:21467054C>T uc003cce.3 - 5 1190 c.782G>A c.(781-783)gGc>gAc p.G261D NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 261 nucleus nucleic acid binding|zinc ion binding p.T260S(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 ATTTTGGAGGCCTGTGTTTCC 0.428000 48 30 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539762 133539762 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:133539762C>T uc002ttp.3 - 13 4996 c.4622G>A c.(4621-4623)gGg>gAg p.G1541E NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 1541 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GTTTCCAAACCCCAAGACTTT 0.393000 34 13 0 0 1 0 0 PIF1 80119 broad.mit.edu 37 15 65108936 65108936 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:65108936G>A uc002ant.2 - 11 1769 c.1703C>T c.(1702-1704)tCt>tTt p.S568F PIF1_uc002anr.2_Missense_Mutation_p.S116F|PIF1_uc002ans.2_Missense_Mutation_p.S259F|PIF1_uc010uiq.1_Missense_Mutation_p.S568F NM_025049 NP_079325 Q9H611 PIF1_HUMAN Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA. 568 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 ACGGCCCAGAGAAATCTCCAC 0.607000 36 16 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77334253 77334253 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:77334253G>A uc002ffc.4 - 16 3000 c.2581C>T c.(2581-2583)Ccc>Tcc p.P861S ADAMTS18_uc010chc.1_Missense_Mutation_p.P449S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.P557S NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 861 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ATGACCTTGGGAAGTGCATAC 0.478000 47 30 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117718657 117718657 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:117718657A>G uc001twn.2 - 7 2108 c.1397T>C c.(1396-1398)aTa>aCa p.I466T NOS1_uc021ren.1_Missense_Mutation_p.I130T|NOS1_uc021reo.1_Missense_Mutation_p.I130T|NOS1_uc001twm.2_Missense_Mutation_p.I466T NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 466 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTGGGGGAATATGGTGATGGC 0.622000 40 14 0 0 1 0 0 NXF2 56001 broad.mit.edu 37 X 101576780 101576780 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:101576780C>T uc004eiv.4 + 26 3148 c.1276C>T c.(1276-1278)Ccc>Tcc p.P426S NXF2_uc022cau.1_Missense_Mutation_p.P426S|NXF2_uc004eiw.4_Missense_Mutation_p.P338S|NXF2_uc004eix.4_Missense_Mutation_p.P426S NM_001099686 NP_001093156 Q9GZY0 NXF2_HUMAN Homo sapiens nuclear RNA export factor 2B (NXF2B), mRNA. 426 NTF2. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nuclear RNA export factor complex RNA binding|nucleocytoplasmic transporter activity|nucleotide binding endometrium(2)|lung(2) 4 CTTGGCTATTCCCTTCGACCC 0.577000 31 11 0 0 1 0 0 KIAA0664 23277 broad.mit.edu 37 17 2595331 2595331 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:2595331G>A uc002fuy.1 - 22 3590 c.3504C>T c.(3502-3504)caC>caT p.H1168H KIAA0664_uc002fux.1_Silent_p.H1101H|KIAA0664_uc010ckc.1_Silent_p.H154H NM_015229 NP_056044 O75153 K0664_HUMAN Homo sapiens KIAA0664 (KIAA0664), mRNA. 1168 binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3) 23 CCTCCTTCTCGTGCTGCAGGG 0.751000 9 7 0 0 1 0 0 P2RY2 5029 broad.mit.edu 37 11 72945537 72945537 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:72945537C>T uc021qna.1 + 0 333 c.333C>T c.(331-333)ttC>ttT p.F111F P2RY2_uc001otk.3_Silent_p.F111F|P2RY2_uc001otj.3_Silent_p.F111F|P2RY2_uc001otl.3_Silent_p.F111F NM_176072 NP_788086 P41231 P2RY2_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA. 111 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) TGGTGCGCTTCCTCTTCTACA 0.622000 46 34 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13850880 13850880 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13850880G>A uc003jfd.2 - 30 5037 c.4995C>T c.(4993-4995)atC>atT p.I1665I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1665 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCCGAGTCATGATCTTCACCC 0.463000 Kartagener syndrome 59 19 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123965716 123965716 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:123965716C>T uc022bag.1 + 0 1966 c.1966C>T c.(1966-1968)Cag>Tag p.Q656* ZHX2_uc003ypk.1_Nonsense_Mutation_p.Q656* NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA. 656 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GCCTACTCCCCAGGAGTACGA 0.527000 69 21 0 0 1 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68788632 68788632 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:68788632C>T uc003hdr.1 - 6 663 c.542G>A c.(541-543)cGa>cAa p.R181Q LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.R178Q NM_182606 NP_872412 Q6ZMR5 TM11A_HUMAN Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA. 181 cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 TGGAACAACTCGTTTACCACA 0.413000 38 24 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149517995 149517995 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:149517995C>T uc010lpk.3 + 86 12329 c.12329C>T c.(12328-12330)cCa>cTa p.P4110L SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 4113 cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCTGCGTGCCAATTGGGCAC 0.667000 27 17 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75086573 75086573 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:75086573G>A uc001dgg.3 - 7 1064 c.845C>T c.(844-846)tCc>tTc p.S282F CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.S76F NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 282 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ACTATGTAAGGATGTTTTATG 0.323000 18 9 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176517793 176517793 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:176517793G>A uc003mfl.3 + 3 570 c.403G>A c.(403-405)Gac>Aac p.D135N FGFR4_uc003mfm.3_Missense_Mutation_p.D135N|FGFR4_uc011dfu.2_Missense_Mutation_p.D135N|FGFR4_uc011dfv.1_Non-coding_Transcript|FGFR4_uc003mfn.1_Missense_Mutation_p.D135N|FGFR4_uc011dfw.1_Missense_Mutation_p.D135N|FGFR4_uc003mfo.3_Missense_Mutation_p.D135N NM_002011 NP_998812 P22455 FGFR4_HUMAN Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA. 135 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity p.D135N(2) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) GTCCCATAGGGACCCCTCGAA 0.562000 TSP Lung(9;0.080) 40 16 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 87968541 87968542 + Missense_Mutation DNP CC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:87968541_87968542CC>TT uc011ccz.2 + 3 1129_1130 c.854_855CC>TT c.(853-855)tcc>tTT p.S285F AFF1_uc011ccx.2_Missense_Mutation_p.S219F|AFF1_uc003hqh.2_Missense_Mutation_p.S285F|AFF1_uc011ccy.2_Missense_Mutation_p.S285F|AFF1_uc003hqj.4_Missense_Mutation_p.S278F|AFF1_uc003hqk.4_Missense_Mutation_p.S278F|AFF1_uc011cda.2_Intron NM_001166693 NP_001160165 P51825 AFF1_HUMAN Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA. 278 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CCACCTCCCTCCCTCCCCTCAA 0.550000 109 66 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152329602 152329602 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:152329602C>T uc001ezw.4 - 2 733 c.660G>A c.(658-660)ggG>ggA p.G220G AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 220 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATACTCCTCCCCAGATTCCC 0.453000 161 75 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73045961 73045961 + RNA SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:73045961G>A uc004ebn.2 + 0 c.33922G>A XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. TAAGCTCAAAGAAGGAAGCTG 0.483000 15 23 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49937233 49937233 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:49937233G>A uc001ruh.1 + 4 1015 c.755G>A c.(754-756)cGg>cAg p.R252Q KCNH3_uc010smj.1_Missense_Mutation_p.R192Q NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA. 252 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 AGCACAGCACGGGAGCCCAGT 0.662000 28 25 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29039066 29039066 + Missense_Mutation SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:29039066T>C uc002kws.3 + 4 552 c.443T>C c.(442-444)tTg>tCg p.L148S NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 148 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GTTAAAATTTTGGATATTAAT 0.353000 26 38 0 0 1 0 0 ZNF500 26048 broad.mit.edu 37 16 4802926 4802926 + Silent SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:4802926G>T uc002cxp.1 - 5 1141 c.894C>A c.(892-894)gtC>gtA p.V298V ZNF500_uc002cxo.1_Silent_p.V90V|ZNF500_uc010uxt.1_Silent_p.V298V NM_021646 NP_067678 O60304 ZN500_HUMAN Homo sapiens zinc finger protein 500 (ZNF500), mRNA. 298 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 21 CCAAGCCCCTGACTGGGGCTG 0.672000 32 15 7.07596e-05 7.10348e-05 1 1 0 LIPE 3991 broad.mit.edu 37 19 42931279 42931279 + Missense_Mutation SNP A T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:42931279A>T uc002otr.3 - 0 300 c.23T>A c.(22-24)gTg>gAg p.V8E AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron NM_005357 NP_005348 Q05469 LIPS_HUMAN Homo sapiens lipase, hormone-sensitive (LIPE), mRNA. 8 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TGACCTAGACACTGACTTAGA 0.532000 21 15 0 0 1 0 0 C2orf47 79568 broad.mit.edu 37 2 200820786 200820786 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:200820786C>T uc002uvm.3 + 1 587 c.265C>T c.(265-267)Cct>Tct p.P89S TYW5_uc002uvj.4_5'Flank|TYW5_uc002uvi.4_5'Flank|TYW5_uc002uvk.4_5'Flank|TYW5_uc010fss.3_5'Flank|TYW5_uc002uvl.3_5'Flank NM_024520 NP_078796 Q8WWC4 CB047_HUMAN Homo sapiens chromosome 2 open reading frame 47 (C2orf47), mRNA. 89 mitochondrion cervix(1)|endometrium(2)|large_intestine(1)|lung(5) 9 cgcttctttccctgcctgccc 0.647000 5 4 0 0 1 0 0 SBNO2 22904 broad.mit.edu 37 19 1116088 1116088 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:1116088G>A uc002lrk.4 - 16 2055 c.1817C>T c.(1816-1818)tCg>tTg p.S606L SBNO2_uc002lrj.4_Missense_Mutation_p.S549L|SBNO2_uc010dse.3_Missense_Mutation_p.S589L|SBNO2_uc010dsf.3_Missense_Mutation_p.S549L NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA. 606 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) CTGAATTAGCGACAGGAACAC 0.617000 37 21 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103143606 103143606 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:103143606G>A uc022ajr.1 - 51 8506 c.8346C>T c.(8344-8346)ttC>ttT p.F2782F RELN_uc022ajq.1_Silent_p.F2782F|RELN_uc010liz.3_Silent_p.F2782F NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 2782 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.F2782L(2) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AACTCACACCGAAGTCAGTAG 0.408000 56 42 0 0 1 0 0 SLC25A13 10165 broad.mit.edu 37 7 95813738 95813738 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:95813738G>A uc003uog.4 - 10 1222 c.1031C>T c.(1030-1032)gCc>gTc p.A344V SLC25A13_uc003uof.4_Missense_Mutation_p.A343V|SLC25A13_uc011kik.2_Missense_Mutation_p.A235V NM_001160210 NP_001153682 Q9UJS0 CMC2_HUMAN Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 343 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) CACAGCAGTGGCTCCAACAGC 0.373000 23 10 0 0 1 0 0 EIF2C1 26523 broad.mit.edu 37 1 36367910 36367910 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:36367910C>T uc001bzl.3 + 10 1582 c.1369C>T c.(1369-1371)Caa>Taa p.Q457* EIF2C1_uc001bzk.3_Nonsense_Mutation_p.Q382*|EIF2C1_uc009vuy.3_Intron NM_012199 NP_036331 Q9UL18 AGO1_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA. 457 negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome RNA binding|protein binding biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1) 36 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTTCGCACCCCAAAAACAGTG 0.567000 35 17 0 0 1 0 0 SLC28A2 9153 broad.mit.edu 37 15 45560424 45560424 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:45560424C>T uc001zva.2 + 12 1281 c.1216C>T c.(1216-1218)Ctg>Ttg p.L406L NM_004212 NP_004203 O43868 S28A2_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA. 406 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) GAGGAATGTCCTGGAAGCTGC 0.527000 46 25 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142575428 142575428 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142575428G>A uc003wbx.2 - 2 554 c.325C>T c.(325-327)Ccc>Tcc p.P109S 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. 109 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) GATGTCATGGGCTCAAAGACC 0.572000 144 30 0 0 1 0 0 E2F3 1871 broad.mit.edu 37 6 20490545 20490545 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:20490545C>T uc003nda.2 + 6 1609 c.1282C>T c.(1282-1284)Ccc>Tcc p.P428S E2F3_uc021ymj.1_Missense_Mutation_p.P297S NM_001949 NP_001940 O00716 E2F3_HUMAN Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA. 428 Transactivation (Potential). G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) CTTACTGCCTCCCCTGCTGCA 0.537000 41 40 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61844939 61844939 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:61844939G>A uc001jky.3 - 30 4159 c.3821C>T c.(3820-3822)tCc>tTc p.S1274F ANK3_uc001jkw.3_Missense_Mutation_p.S408F|ANK3_uc009xpa.3_Missense_Mutation_p.S408F|ANK3_uc001jkx.3_Missense_Mutation_p.S452F|ANK3_uc010qih.2_Missense_Mutation_p.S1275F|ANK3_uc001jkz.4_Missense_Mutation_p.S1268F|ANK3_uc001jla.1_Missense_Mutation_p.S340F|ANK3_uc001jlb.1_Missense_Mutation_p.S792F|ANK3_uc001jkv.3_5'Flank NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1274 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGTTGTAAAGGAGACACAATC 0.388000 38 16 0 0 1 0 0 CSF3 1440 broad.mit.edu 37 17 38172059 38172059 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:38172059G>A uc002htp.3 + 1 270 c.156G>A c.(154-156)agG>agA p.R52R CSF3_uc002hto.3_Silent_p.R52R|CSF3_uc002htq.3_Silent_p.R48R|CSF3_uc021tww.1_Silent_p.R52R|CSF3_uc021twx.1_Silent_p.R52R|CSF3_uc010wep.2_Silent_p.R48R NM_000759 NP_000750 P09919 CSF3_HUMAN Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA. 52 cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation extracellular space cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity endometrium(1)|ovary(1)|prostate(1) 3 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Filgrastim(DB00099)|Pegfilgrastim(DB00019) AGCAAGTGAGGAAGATCCAGG 0.642000 13 7 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62039782 62039782 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:62039782C>T uc002yey.1 - 15 2048 c.1871G>A c.(1870-1872)gGg>gAg p.G624E KCNQ2_uc002yez.1_Missense_Mutation_p.G593E|KCNQ2_uc002yfa.1_Missense_Mutation_p.G606E|KCNQ2_uc002yfb.1_Missense_Mutation_p.G596E NM_172107 NP_742105 O43526 KCNQ2_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA. 624 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CTCCACCTTCCCGAGCCGTCC 0.716000 6 7 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133233743 133233743 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:133233743G>A uc001uks.1 - 28 3605 c.3561C>T c.(3559-3561)ttC>ttT p.F1187F POLE_uc001ukr.1_5'UTR|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.F1160F NM_006231 NP_006222 Q07864 DPOE1_HUMAN Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA. 1187 DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CCTCCAGGGTGAAGAGCTCAC 0.567000 DNA polymerases (catalytic subunits) 42 29 0 0 1 0 0 INA 9118 broad.mit.edu 37 10 105048127 105048127 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:105048127G>A uc001kws.3 + 2 1250 c.1201G>A c.(1201-1203)Gaa>Aaa p.E401K NM_032727 NP_116116 Q16352 AINX_HUMAN Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA. 401 Coil 2.|Rod. 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) GAAACTGCTGGAAGGCGAGGA 0.468000 58 30 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179486272 179486272 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179486272G>A uc021vsy.1 - 193 37800 c.37575C>T c.(37573-37575)caC>caT p.H12525H MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.H6220H|TTN_uc021vta.1_Silent_p.H6153H|TTN_uc021vtb.1_Silent_p.H6028H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13452 Ig-like 83. 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) CATCCTCAAGGTGAGCGTTCT 0.418000 24 13 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56344943 56344943 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:56344943G>A uc001niz.1 - 0 255 c.255C>T c.(253-255)ttC>ttT p.F85F OR8U8_uc001nit.2_Intron NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA. 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 GTTCTGAGAGGAAATTGTGCA 0.433000 47 23 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70451069 70451069 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:70451069C>T uc002lkw.3 - 6 996 c.712G>A c.(712-714)Gat>Aat p.D238N NETO1_uc002lky.2_Missense_Mutation_p.D238N NM_001201465 NP_001188394 Q8TDF5 NETO1_HUMAN Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA. 238 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CTGCTTCCATCATACACAGCC 0.413000 192 63 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038009 75038009 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:75038009C>T uc001dgg.3 - 13 3604 c.3385G>A c.(3385-3387)Gaa>Aaa p.E1129K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1129 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ACAGGTGCTTCGTTCTCAGCA 0.468000 30 17 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155186322 155186322 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:155186322G>A uc001fjd.3 - 5 747 c.603C>T c.(601-603)ccC>ccT p.P201P GBA_uc001fjf.4_Silent_p.P162P|GBA_uc001fje.4_Silent_p.P123P P04062 GLCM_HUMAN Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA. 284 H -> P (in GD). carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 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) Alglucerase(DB00088)|Imiglucerase(DB00053) GGCACTGGAAGGGGTATCCAC 0.552000 Gaucher disease type I 27 18 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17228461 17228461 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:17228461C>T uc002dfa.3 - 8 1981 c.1896G>A c.(1894-1896)gaG>gaA p.E632E NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN Homo sapiens xylosyltransferase I (XYLT1), mRNA. 632 glycosaminoglycan biosynthetic process Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CGTAGACATTCTCCCAGTAGG 0.582000 66 32 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71305235 71305235 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:71305235C>T uc010ukf.2 + 13 2007 c.1701C>T c.(1699-1701)tcC>tcT p.S567S LRRC49_uc002asu.3_Silent_p.S552S|LRRC49_uc002asx.3_Silent_p.S518S|LRRC49_uc002asw.3_Silent_p.S562S|LRRC49_uc002asy.3_Silent_p.S268S|LRRC49_uc002asz.3_Silent_p.S534S NM_001199017 NP_001185946 Q8IUZ0 LRC49_HUMAN Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA. 562 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 GTCTGATTTCCATTCTGGGTG 0.373000 67 34 0 0 1 0 0 HRASLS2 54979 broad.mit.edu 37 11 63326096 63326096 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:63326096G>A uc001nxg.1 - 2 214 c.155C>T c.(154-156)tCt>tTt p.S52F NM_017878 NP_060348 Q9NWW9 HRSL2_HUMAN Homo sapiens HRAS-like suppressor 2 (HRASLS2), mRNA. 52 lipid catabolic process cytoplasm acyltransferase activity|hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 GGTCAGGGCAGACAGGACACT 0.557000 92 41 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156747771 156747771 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:156747771C>T uc021ygm.1 + 14 1767 c.1629C>T c.(1627-1629)atC>atT p.I543I CYFIP2_uc011ddn.2_Silent_p.I518I|CYFIP2_uc011ddo.2_Silent_p.I348I|CYFIP2_uc021ygn.1_Silent_p.I543I|CYFIP2_uc021ygo.1_Silent_p.I543I|CYFIP2_uc003lwt.3_Silent_p.I422I|CYFIP2_uc011ddp.2_Silent_p.I278I NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA. 544 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATTTGATATCAAGGTGCCCC 0.602000 9 6 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057364 9057364 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9057364G>A uc002mkp.3 - 2 30286 c.30082C>T c.(30082-30084)Cct>Tct p.P10028S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10030 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 GTCGTGACAGGTAAGGACAAC 0.458000 17 8 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128782030 128782030 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:128782030G>A uc001qet.3 + 1 1176 c.862G>A c.(862-864)Gag>Aag p.E288K KCNJ5_uc009zck.3_Missense_Mutation_p.E288K|KCNJ5_uc001qew.3_Missense_Mutation_p.E288K NM_000890 NP_000881 P48544 IRK5_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA. 288 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CCCTTTCTGGGAGATGTCTCA 0.537000 50 46 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62567222 62567222 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:62567222T>A uc001xfu.1 + 5 1932 c.1735T>A c.(1735-1737)Ttc>Atc p.F579I SYT16_uc010tse.1_Missense_Mutation_p.F137I NM_031914 NP_114120 Q17RD7 SYT16_HUMAN Homo sapiens synaptotagmin XVI (SYT16), mRNA. 579 C2 2. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GACCTTTGTTTTCCAGGTGGC 0.473000 19 9 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10469216 10469216 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:10469216C>T uc003wtc.3 - 3 2621 c.2392G>A c.(2392-2394)Gac>Aac p.D798N NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 798 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TGAGGCGTGTCCCTGGCCTCT 0.682000 15 29 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25921449 25921449 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:25921449C>T uc011dkb.2 - 2 515 c.432G>A c.(430-432)gtG>gtA p.V144V SLC17A2_uc011dkc.2_Silent_p.V144V|SLC17A2_uc003nfl.3_Silent_p.V144V O00624 NPT3_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA. 144 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 TGACCAAAATCACTCCGAAGT 0.448000 129 30 0 0 1 0 0 CRNKL1 51340 broad.mit.edu 37 20 20033154 20033154 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:20033154C>T uc002wrs.3 - 1 348 c.316G>A c.(316-318)Gcc>Acc p.A106T C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.A94T NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA. 106 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 GTGACGGAGGCGGCACCGTTT 0.607000 35 12 0 0 1 0 0 KCNA10 3744 broad.mit.edu 37 1 111061227 111061227 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:111061227C>T uc001dzt.1 - 0 571 c.183G>A c.(181-183)acG>acA p.T61T NM_005549 NP_005540 Q16322 KCA10_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA. 61 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity p.T61T(2)|p.T61M(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TGGAGAAGGCCGTCTCATGGT 0.582000 50 26 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815108 106815108 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:106815108C>T uc003ymd.3 + 7 2821 c.2798C>T c.(2797-2799)tCa>tTa p.S933L ZFPM2_uc011lhs.2_Missense_Mutation_p.S664L NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 933 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AACTTATTTTCATCCCACCTA 0.423000 7 16 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102649475 102649475 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:102649475C>T uc001phg.2 - 3 539 c.502G>A c.(502-504)Gga>Aga p.G168R NM_002425 NP_002416 P09238 MMP10_HUMAN Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA. 168 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) TAAAAGTCTCCATGTTCTGAT 0.378000 28 25 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350431 100350431 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:100350431C>T uc003uwj.3 + 13 2868 c.2703C>T c.(2701-2703)atC>atT p.I901I ZAN_uc003uwk.3_Silent_p.I901I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 901 66 X heptapeptide repeats (approximate) (mucin-like domain). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AACTCACCATCCCCACAGAAA 0.507000 61 34 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196825573 196825573 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:196825573G>A uc002utj.4 - 17 2403 c.2302C>T c.(2302-2304)Cgt>Tgt p.R768C NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 768 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCATAAAGACGAAGATAAGGG 0.403000 68 30 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762104 92762104 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:92762104C>T uc003umh.1 - 4 4397 c.3181G>A c.(3181-3183)Gct>Act p.A1061T SAMD9L_uc003umj.1_Missense_Mutation_p.A1061T|SAMD9L_uc003umi.1_Missense_Mutation_p.A1061T|SAMD9L_uc010lfb.1_Missense_Mutation_p.A1061T|SAMD9L_uc003umk.1_Missense_Mutation_p.A1061T|SAMD9L_uc010lfc.1_Missense_Mutation_p.A1061T|SAMD9L_uc010lfd.1_Missense_Mutation_p.A1061T|SAMD9L_uc022ahh.1_Missense_Mutation_p.A1061T NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 1061 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTCTGTAAAGCTTCCATTAAT 0.383000 57 27 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248974 20248974 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20248974C>T uc010tku.2 + 0 493 c.493C>T c.(493-495)Cga>Tga p.R165* NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V164I(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTCATTGTTCGACTTCCTTT 0.493000 165 43 0 0 1 0 0 TBX3 6926 broad.mit.edu 37 12 115117739 115117739 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:115117739C>T uc001tvt.1 - 2 1660 c.696G>A c.(694-696)ggG>ggA p.G232G TBX3_uc001tvu.1_Intron NM_016569 NP_057653 O15119 TBX3_HUMAN Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA. 232 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) AACTATAATTCCCCTGCCACG 0.443000 42 24 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37333503 37333503 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:37333503G>A uc003aqa.4 + 13 1870 c.1653G>A c.(1651-1653)ggG>ggA p.G551G CSF2RB_uc003aqc.4_Silent_p.G557G NM_000395 NP_000386 P32927 IL3RB_HUMAN Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA. 551 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) CACCATCTGGGCCTGACACGA 0.612000 17 32 0 0 1 0 0 WNT2B 7482 broad.mit.edu 37 1 113057509 113057509 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:113057509C>T uc001ecb.3 + 1 711 c.196C>T c.(196-198)Ctg>Ttg p.L66L WNT2B_uc001eca.3_Silent_p.L47L|WNT2B_uc009wgg.3_5'UTR NM_024494 NP_078613 Q93097 WNT2B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA. 66 Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CATTGGGGCACTGGGGGCACG 0.567000 74 36 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132160034 132160034 + Missense_Mutation SNP T G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:132160034T>G uc011mvf.2 - 0 2267 c.2215A>C c.(2215-2217)Act>Cct p.T739P USP26_uc010nrm.1_Missense_Mutation_p.T739P NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 739 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CACTGCTGAGTCTGTTCAGAC 0.418000 13 36 0 0 1 0 0 AQP3 360 broad.mit.edu 37 9 33442887 33442887 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:33442887G>A uc003zsx.3 - 3 558 c.455C>T c.(454-456)tCt>tTt p.S152F AQP3_uc010mju.3_Missense_Mutation_p.S152F|AQP3_uc003zsv.2_3'UTR NM_004925 NP_004916 Q92482 AQP3_HUMAN Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA. 152 excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D basolateral plasma membrane|cell-cell junction|cytoplasm glycerol channel activity|water channel activity endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.0899) CAAGTGTCCAGAGGGGTAGGT 0.552000 105 63 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89989980 89989980 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:89989980G>A uc003kju.3 + 32 7503 c.7407G>A c.(7405-7407)tgG>tgA p.W2469* GPR98_uc003kjt.3_Nonsense_Mutation_p.W175*|GPR98_uc003kjv.3_Nonsense_Mutation_p.W69* NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2469 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) TGACATCATGGATCAGCCCAG 0.478000 8 5 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99932104 99932104 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:99932104C>T uc001pga.3 + 9 1645 c.1141C>T c.(1141-1143)Cgt>Tgt p.R381C CNTN5_uc009ywv.2_Missense_Mutation_p.R381C|CNTN5_uc001pfz.3_Missense_Mutation_p.R381C|CNTN5_uc021qpb.1_Missense_Mutation_p.R381C|CNTN5_uc021qpc.1_Missense_Mutation_p.R307C NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 381 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding p.R381L(1) 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) AAATTCCTTTCGTGGACAATT 0.393000 23 12 0 0 1 0 0 TRIM68 55128 broad.mit.edu 37 11 4621703 4621703 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4621703G>A uc001lzf.2 - 6 1551 c.1261C>T c.(1261-1263)Cgc>Tgc p.R421C TRIM68_uc010qyj.2_Non-coding_Transcript NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN Homo sapiens tripartite motif containing 68 (TRIM68), mRNA. 421 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CCCACCCGGCGAGGAGGGACC 0.537000 54 31 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108476242 108476242 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:108476242G>A uc010ywk.2 + 11 1781 c.1699G>A c.(1699-1701)Gaa>Aaa p.E567K RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 567 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AAGAGCCCAGGAAAAACATGG 0.338000 47 21 0 0 1 0 0 C4orf17 84103 broad.mit.edu 37 4 100463110 100463110 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:100463110G>A uc003huw.3 + 8 1286 c.924G>A c.(922-924)atG>atA p.M308I C4orf17_uc003hux.3_Non-coding_Transcript NM_032149 NP_115525 Q53FE4 CD017_HUMAN Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA. 308 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) GAAATAATATGAAAATACCTG 0.388000 32 4 0 0 1 0 0 KIF18B 146909 broad.mit.edu 37 17 43005579 43005579 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:43005579G>A uc010wji.2 - 12 2201 c.2100C>T c.(2098-2100)agC>agT p.S700S KIF18B_uc002iht.3_Silent_p.S709S|KIF18B_uc010wjh.2_Silent_p.S697S NM_001080443 NP_001073912 Homo sapiens kinesin family member 18B (KIF18B), mRNA. breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) GGGGCACCCGGCTTTTGATGA 0.637000 10 10 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56465910 56465910 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:56465910C>T uc002qmh.3 + 2 557 c.486C>T c.(484-486)ttC>ttT p.F162F NLRP8_uc010etg.3_Silent_p.F162F NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 162 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AAAAGTTTTTCCCCATATGGG 0.443000 53 34 0 0 1 0 0 BIN2 51411 broad.mit.edu 37 12 51685634 51685634 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:51685634G>A uc001ryg.3 - 9 1308 c.1256C>T c.(1255-1257)cCa>cTa p.P419L BIN2_uc009zlz.3_Missense_Mutation_p.P387L|BIN2_uc001ryh.3_Missense_Mutation_p.P295L|BIN2_uc010sng.2_Missense_Mutation_p.P393L NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN Homo sapiens bridging integrator 2 (BIN2), mRNA. 419 Pro-rich. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 GGCTCTGGGTGGAGGAGGCCT 0.607000 25 22 0 0 1 0 0 DBC1 1620 broad.mit.edu 37 9 121976282 121976282 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:121976282G>A uc004bkc.2 - 5 1293 c.837C>T c.(835-837)ccC>ccT p.P279P DBC1_uc004bkd.2_Silent_p.P279P NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 279 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TGTCCGTGATGGGGCAGTTGC 0.547000 62 26 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65266481 65266481 + RNA SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:65266481C>T uc010roh.2 + 0 c.1249C>T Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA. GAGTTGTTCTCCGTCTATAAA 0.537000 117 49 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71044147 71044147 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:71044147C>T uc002shf.3 - 3 443 c.366G>A c.(364-366)caG>caA p.Q122Q CLEC4F_uc010yqv.1_Silent_p.Q122Q NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA. 122 endocytosis integral to membrane receptor activity|sugar binding p.I121I(1) endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 ACTTCAACATCTGGATTTCTA 0.483000 47 28 0 0 1 0 0 OR8B3 390271 broad.mit.edu 37 11 124267095 124267095 + Silent SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:124267095T>C uc010saj.2 - 0 153 c.153A>G c.(151-153)ctA>ctG p.L51L OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA. 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 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) GGTGAGAATTTAGACCGAAAA 0.423000 63 52 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21857904 21857904 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:21857904G>A uc003svc.3 + 65 10690 c.10659G>A c.(10657-10659)acG>acA p.T3553T NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 3553 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TCGAGGAAACGATAGATCCAG 0.323000 Kartagener syndrome 22 20 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 157049715 157049715 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:157049715C>T uc010lqs.3 + 21 3370 c.3058C>T c.(3058-3060)Cga>Tga p.R1020* UBE3C_uc003wni.4_Nonsense_Mutation_p.R383* NM_014671 NP_055486 Q15386 UBE3C_HUMAN Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA. 1020 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) AAGCTGCTCTCGACCCCCTCT 0.423000 46 65 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51773085 51773085 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:51773085G>A uc001ryk.2 - 1 706 c.481C>T c.(481-483)Cga>Tga p.R161* GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Nonsense_Mutation_p.R161*|GALNT6_uc010snh.1_Nonsense_Mutation_p.R161* NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA. 161 protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.R161L(1) endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TCAGGTGGTCGGGTGTCTGGC 0.567000 8 19 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101336209 101336209 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:101336209C>T uc010svm.1 + 4 924 c.352C>T c.(352-354)Cga>Tga p.R118* ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Nonsense_Mutation_p.R83*|ANO4_uc001thx.2_Nonsense_Mutation_p.R118* NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 118 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TGGAAAGTGTCGAATTGACTA 0.383000 HNSCC(74;0.22) 72 54 0 0 1 0 0 OR2H1 26716 broad.mit.edu 37 6 29430476 29430476 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:29430476G>A uc003nmi.3 + 2 1373 c.930G>A c.(928-930)agG>agA p.R310R OR2H1_uc003nmj.1_Silent_p.R310R|OR2H1_uc010jri.2_Silent_p.R232R|OR2H1_uc021ytr.1_Silent_p.R310R NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA. 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 GAGACTCCAGGGAAAGCTGGA 0.438000 39 10 0 0 1 0 0 UMOD 7369 broad.mit.edu 37 16 20362025 20362025 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:20362025A>G uc002dhb.3 - 1 164 c.35T>C c.(34-36)gTg>gCg p.V12A UMOD_uc002dgz.3_Missense_Mutation_p.V12A|UMOD_uc002dha.3_Missense_Mutation_p.V12A NM_003361 NP_003352 P07911 UROM_HUMAN Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA. 12 cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GGCCACCACCACCATCAGCAT 0.517000 30 15 0 0 1 0 0 SETD7 80854 broad.mit.edu 37 4 140432990 140432990 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:140432990G>A uc003ihw.3 - 7 1214 c.928C>T c.(928-930)Cac>Tac p.H310Y NM_030648 NP_085151 Q8WTS6 SETD7_HUMAN Homo sapiens SET domain containing (lysine methyltransferase) 7 (SETD7), mRNA. 310 SET. peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 all_hematologic(180;0.156) AAACGGGGGTGGACAAACCTA 0.587000 53 20 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119028185 119028185 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:119028185G>A uc004bjn.3 + 7 3163 c.2782G>A c.(2782-2784)Gga>Aga p.G928R PAPPA_uc011lxp.1_Missense_Mutation_p.G623R|PAPPA_uc011lxq.2_Missense_Mutation_p.G303R NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 928 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AACTATTTCAGGAACTGAAGA 0.388000 32 19 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7669782 7669782 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:7669782C>T uc002giu.1 + 20 3672 c.3658C>T c.(3658-3660)Ctt>Ttt p.L1220F NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1220 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) CTCCAAGGACCTTCAGAACCT 0.572000 37 11 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255111 15255111 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:15255111C>T uc001iob.3 - 7 2483 c.2476G>A c.(2476-2478)Ggc>Agc p.G826S NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA. 826 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GGCAGCTGGCCACCACTTCTC 0.647000 39 18 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44888545 44888545 + Silent SNP G A A rs144333328 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:44888545G>A uc001ztx.3 - 24 4201 c.4170C>T c.(4168-4170)tcC>tcT p.S1390S SPG11_uc010ueh.2_Silent_p.S1390S|SPG11_uc010uei.2_Silent_p.S1390S|SPG11_uc001zty.1_Silent_p.S119S NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA. 1390 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) ACTGGATAAGGGATTTCACCT 0.428000 24 11 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541810 55541810 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55541810C>T uc010ril.2 + 0 897 c.897C>T c.(895-897)atC>atT p.I299I NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I299I(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) ACAAAGATATCAATAACATGT 0.338000 29 11 0 0 1 0 0 SLC43A1 8501 broad.mit.edu 37 11 57261476 57261476 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:57261476G>A uc001nkk.3 - 7 979 c.861C>T c.(859-861)aaC>aaT p.N287N SLC43A1_uc001nkl.3_Silent_p.N287N NM_001198810 NP_001185739 O75387 LAT3_HUMAN Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA. 287 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 TCTCAGGAAGGTTTTCTGAGG 0.567000 OREG0020651 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 24 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179650797 179650797 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179650797C>T uc021vsy.1 - 13 2373 c.2148G>A c.(2146-2148)gaG>gaA p.E716E TTN_uc021vsz.1_Silent_p.E670E|TTN_uc021vta.1_Silent_p.E670E|TTN_uc021vtb.1_Silent_p.E670E|TTN_uc002unb.2_Silent_p.E716E|TTN_uc010frg.1_Silent_p.E298E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 716 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) GCTCTCTGGGCTCTCTGACTC 0.507000 26 11 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138647015 138647015 + Splice_Site SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:138647015G>A uc011mdq.2 + 6 614 c.540_splice c.e6+1 p.Q180_splice KCNT1_uc011mdr.2_Splice_Site_p.Q7_splice|KCNT1_uc010nbf.3_Splice_Site_p.Q132_splice|KCNT1_uc004cgo.1_Splice_Site NM_020822 NP_065873 B7ZVY4 B7ZVY4_HUMAN Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA. 180 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GGGCGATCCAGGTGAGTGCCC 0.597000 23 16 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 71029727 71029727 + Nonsense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:71029727T>A uc001swc.4 - 1 220 c.175A>T c.(175-177)Aag>Tag p.K59* PTPRB_uc001swa.4_Nonsense_Mutation_p.K59*|PTPRB_uc001swd.4_Nonsense_Mutation_p.K58*|PTPRB_uc009zrr.2_Nonsense_Mutation_p.K59*|PTPRB_uc001swe.3_Nonsense_Mutation_p.K59* NM_001109754 NP_001103224 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA. 0 Fibronectin type-III 1. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGAAGGAGCTTTTCATCCTCA 0.537000 14 9 0 0 1 0 0 APOBEC2 10930 broad.mit.edu 37 6 41029198 41029198 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:41029198G>A uc003opl.3 + 1 410 c.263G>A c.(262-264)gGa>gAa p.G88E UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Intron NM_006789 NP_006780 Q9Y235 ABEC2_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA. 88 DNA demethylation|mRNA processing RNA binding|cytidine deaminase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1) 10 Ovarian(28;0.0418)|Colorectal(47;0.196) GCATCTCGGGGATACCTAGAG 0.577000 58 85 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784609 82784609 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:82784609G>A uc003uhx.2 - 1 1637 c.1348C>T c.(1348-1350)Cca>Tca p.P450S PCLO_uc003uhv.2_Missense_Mutation_p.P450S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 401 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. 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 TGTTGAGCTGGAATCTTTCCT 0.577000 32 16 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105193708 105193708 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:105193708G>A uc004emd.3 + 26 4795 c.4492G>A c.(4492-4494)Gac>Aac p.D1498N NRK_uc011msi.2_Missense_Mutation_p.D80N NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 1499 CNH. 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 AATGTGGAAAGACATACCATC 0.383000 HNSCC(51;0.14) 2 10 0 0 1 0 0 OR1F1 4992 broad.mit.edu 37 16 3254943 3254943 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:3254943G>A uc010uwu.2 + 0 697 c.697G>A c.(697-699)Gga>Aga p.G233R NM_012360 NP_036492 O43749 OR1F1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 ATCCACAAAGGGAAGGTGGAA 0.512000 67 41 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58579062 58579062 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:58579062C>T uc002qrg.3 + 3 1285 c.1282C>T c.(1282-1284)Cac>Tac p.H428Y ZNF135_uc002qre.3_Missense_Mutation_p.H404Y|ZNF135_uc002qrf.3_Missense_Mutation_p.H362Y|ZNF135_uc010yhq.2_Missense_Mutation_p.H416Y|ZNF135_uc010yhr.2_Missense_Mutation_p.H225Y|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR NM_007134 NP_009065 B4DHH9 B4DHH9_HUMAN Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA. 416 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CCAGAGGACCCACACAGGAGA 0.547000 52 16 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82940480 82940480 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:82940480C>T uc003kim.3 - 2 548 c.477G>A c.(475-477)gtG>gtA p.V159V HAPLN1_uc003kin.3_Silent_p.V159V NM_001884 NP_001875 P10915 HPLN1_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA. 159 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) AAGGGAATACCACACCTGTCC 0.512000 12 11 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904360 5904360 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:5904360C>T uc002wmg.3 + 3 1876 c.1570C>T c.(1570-1572)Cca>Tca p.P524S CHGB_uc010zqz.2_Missense_Mutation_p.P207S NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 524 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 ACTGTTCAACCCATACTACGA 0.438000 39 19 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11384921 11384921 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:11384921G>A uc003jfa.1 - 6 1178 c.1033C>T c.(1033-1035)Ccc>Tcc p.P345S CTNND2_uc010itt.2_Missense_Mutation_p.P254S|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 345 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.S344W(1)|p.P345P(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TGGTGGATGGGCGAGGAGGAG 0.677000 12 6 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585365 7585365 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:7585365G>A uc003mxp.1 + 23 8149 c.7870G>A c.(7870-7872)Gac>Aac p.D2624N DSP_uc003mxq.1_Missense_Mutation_p.D2025N|DSP_uc021yle.1_Missense_Mutation_p.D2181N NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2624 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGCCATCTTTGACACAGAAAA 0.493000 78 54 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61262348 61262349 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:61262348_61262349GG>AA uc010xep.2 + 6 896_897 c.728_729GG>AA c.(727-729)ggg>gAA p.G243E SERPINB13_uc002ljc.3_Missense_Mutation_p.G234E|SERPINB13_uc002ljd.3_Missense_Mutation_p.G98E|SERPINB13_uc010xeq.2_Missense_Mutation_p.G55E|SERPINB13_uc010xer.2_Missense_Mutation_p.G55E NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA. 234 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 AAAATTCTAGGGATTCCATATA 0.426000 46 59 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160388939 160388940 + Missense_Mutation DNP AC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:160388939_160388940AC>TT uc001fwb.2 + 4 639_640 c.340_341AC>TT c.(340-342)acc>TTc p.T114F VANGL2_uc001fwc.2_Missense_Mutation_p.T114F NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA. 114 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) AGCGGGGGCCACCCTGGCACTG 0.668000 47 27 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48613161 48613161 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:48613161G>A uc003ctz.2 - 71 5878 c.5877C>T c.(5875-5877)atC>atT p.I1959I NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1959 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGGTCTCCACGATCTCCCGCA 0.682000 34 13 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158908894 158908894 + Nonsense_Mutation SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:158908894G>T uc001ftb.3 + 3 686 c.436G>T c.(436-438)Gag>Tag p.E146* PYHIN1_uc001fta.4_Nonsense_Mutation_p.E146*|PYHIN1_uc001ftc.3_Nonsense_Mutation_p.E137*|PYHIN1_uc001ftd.3_Nonsense_Mutation_p.E146*|PYHIN1_uc001fte.3_Nonsense_Mutation_p.E137* NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA. 146 cell cycle nuclear speck p.E146G(1) breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) ATCTGAAGAAGAGACTGGAAC 0.438000 21 12 7.03913e-09 7.10102e-09 1 1 0 ACSM2B 348158 broad.mit.edu 37 16 20559726 20559726 + Missense_Mutation SNP C T T rs138313532 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:20559726C>T uc002dhj.4 - 7 1174 c.964G>A c.(964-966)Gat>Aat p.D322N ACSM2B_uc002dhk.4_Missense_Mutation_p.D322N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D322N NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 322 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CTGGAAAGATCCTGCTGTAGC 0.493000 59 33 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18260595 18260595 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:18260595C>T uc004cyl.2 - 13 2095 c.1938G>A c.(1936-1938)caG>caA p.Q646Q SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA. 646 SAM. anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) GGCCTGATATCTGAGGATCTG 0.483000 14 28 0 0 1 0 0 PRSS12 8492 broad.mit.edu 37 4 119273766 119273766 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:119273766G>A uc003ica.2 - 0 157 c.110C>T c.(109-111)cCc>cTc p.P37L NM_003619 NP_003610 P56730 NETR_HUMAN Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA. 37 Pro-rich. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 ACCCGCAGGGGGCGAATGGCG 0.697000 8 4 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G A A rs121913499 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:209113113G>A uc002vcs.3 - 3 640 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C NM_005896 NP_005887 O75874 IDHC_HUMAN Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA. 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle cytosol|peroxisomal matrix NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 49 20 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223284787 223284787 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:223284787C>T uc021pjl.1 - 0 1587 c.1587G>A c.(1585-1587)agG>agA p.R529R TLR5_uc001hnv.2_Silent_p.R529R|TLR5_uc001hnw.2_Silent_p.R529R NM_003268 NP_003259 O60602 TLR5_HUMAN Homo sapiens toll-like receptor 5 (TLR5), mRNA. 529 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) GGCTTAGTCCCCTTAATGCAG 0.413000 65 37 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858202 9858202 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:9858202G>A uc010uym.2 - 13 3509 c.3199C>T c.(3199-3201)Cgg>Tgg p.R1067W GRIN2A_uc002czo.4_Missense_Mutation_p.R1067W|GRIN2A_uc010uyn.2_Missense_Mutation_p.R910W|GRIN2A_uc002czr.4_Missense_Mutation_p.R1067W NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1067 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 p.R1067W(2) 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) CACGTGGCCCGATTTGACGTT 0.498000 24 62 0 0 1 0 0 ZNF260 339324 broad.mit.edu 37 19 37005760 37005760 + Silent SNP C T T rs57678022 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:37005760C>T uc002oee.2 - 3 1303 c.381G>A c.(379-381)caG>caA p.Q127Q ZNF260_uc010eey.2_Silent_p.Q127Q|ZNF260_uc002oef.2_Silent_p.Q127Q|ZNF260_uc002oed.2_Silent_p.Q127Q|ZNF260_uc021uti.1_Silent_p.Q127Q NM_001012756 NP_001159510 Q3ZCT1 ZN260_HUMAN Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA. 127 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) TATGATTTTTCTGGTGTCTGA 0.393000 93 38 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11300494 11300494 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:11300494G>A uc001asd.3 - 10 1773 c.1652C>T c.(1651-1653)cCc>cTc p.P551L NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 551 T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GTGGCGAAGGGGTTTGTGCAT 0.582000 41 34 0 0 1 0 0 CD8B 926 broad.mit.edu 37 2 87073875 87073875 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:87073875G>A uc002srw.3 - 3 574 c.515C>T c.(514-516)aCc>aTc p.T172I RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Missense_Mutation_p.T172I|CD8B_uc002sry.3_Intron|CD8B_uc010fgt.3_Intron|CD8B_uc002srz.3_Missense_Mutation_p.T172I|CD8B_uc010yto.2_Missense_Mutation_p.T172I NM_172213 NP_757362 P10966 CD8B_HUMAN Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA. 172 T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction T cell receptor complex|early endosome|extracellular region|integral to plasma membrane MHC class I protein binding|coreceptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 13 CAGGCCAAGGGTGATGGGGCT 0.532000 7 8 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32913053 32913053 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:32913053C>T uc001uub.1 + 10 4788 c.4561C>T c.(4561-4563)Cta>Tta p.L1521L NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 1521 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGAACCTACTCTATTGGGTTT 0.383000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 43 22 0 0 1 0 0 C3orf32 51066 broad.mit.edu 37 3 8675373 8675373 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:8675373C>T uc011atg.2 - 3 358 c.318G>A c.(316-318)ctG>ctA p.L106L C3orf32_uc003bqz.3_Silent_p.L84L|C3orf32_uc003bqt.3_Silent_p.L33L|C3orf32_uc003bqu.3_Silent_p.L84L|C3orf32_uc003bqv.3_Silent_p.L33L|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Silent_p.L84L NM_015931 NP_057015 Q9Y2M2 CC032_HUMAN Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA. 84 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 14 TCTGCCGCTTCAGCTCCTGGA 0.672000 14 7 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123599666 123599666 + Silent SNP C T T rs141795729 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:123599666C>T uc003vle.3 + 4 1612 c.1173C>T c.(1171-1173)aaC>aaT p.N391N SPAM1_uc011koa.1_Silent_p.N47N|SPAM1_uc003vld.3_Silent_p.N391N|SPAM1_uc022aks.1_Silent_p.N391N|SPAM1_uc003vlf.4_Silent_p.N391N|SPAM1_uc010lku.3_Silent_p.N391N NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 391 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TAAGGAAAAACTGGAATTCAA 0.413000 116 27 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G A A rs146082308 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:7810767G>A uc002mht.2 - 3 452 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105W|CD209_uc002mhr.2_Missense_Mutation_p.R105W|CD209_uc002mhs.2_Missense_Mutation_p.R105W|CD209_uc002mhu.2_Missense_Mutation_p.R129W|CD209_uc010dvq.2_Missense_Mutation_p.R129W|CD209_uc002mhq.2_Missense_Mutation_p.R129W|CD209_uc002mhv.2_Missense_Mutation_p.R105W|CD209_uc002mhx.2_Missense_Mutation_p.R85W|CD209_uc002mhw.2_Missense_Mutation_p.R85W|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA. 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(6)|p.T128T(1)|p.R129R(1) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 145 5 0 0 1 0 0 SGTA 6449 broad.mit.edu 37 19 2759288 2759288 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:2759288G>A uc002lwi.1 - 8 851 c.704C>T c.(703-705)tCg>tTg p.S235L NM_003021 NP_003012 O43765 SGTA_HUMAN Homo sapiens small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha (SGTA), mRNA. 235 interspecies interaction between organisms cytoplasm protein binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 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) CATTAGGTTCGAAGCCTGAAG 0.428000 72 46 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81381435 81381435 + Splice_Site SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:81381435C>T uc003uhl.3 - 5 790 c.625_splice c.e5+1 p.V209_splice HGF_uc003uhm.3_Splice_Site_p.V204_splice|HGF_uc003uhn.1_Splice_Site_p.V209_splice|HGF_uc003uho.1_Splice_Site_p.V204_splice|HGF_uc003uhp.3_Missense_Mutation_p.G209D NM_000601 NP_000592 P14210 HGF_HUMAN Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA. 209 epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GGTTTATTTACCTTCTGAACA 0.438000 45 17 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96534825 96534825 + Missense_Mutation SNP T G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:96534825T>G uc010qnz.2 + 1 179 c.179T>G c.(178-180)aTc>aGc p.I60S CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.I38S NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 60 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) CTCTCAAAAATCTATGGCCCT 0.413000 34 20 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7714948 7714948 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:7714948G>A uc002cys.2 + 12 1896 c.908G>A c.(907-909)gGa>gAa p.G303E RBFOX1_uc002cyt.2_Missense_Mutation_p.G276E|RBFOX1_uc010uxz.1_Missense_Mutation_p.G346E|RBFOX1_uc010uya.1_Missense_Mutation_p.G260E|RBFOX1_uc010uyb.1_Missense_Mutation_p.G303E|RBFOX1_uc002cyw.2_Intron|RBFOX1_uc002cyy.2_Intron|RBFOX1_uc002cyx.2_Intron|RBFOX1_uc010uyc.1_Intron NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA. 303 RNA splicing|RNA transport|mRNA processing nucleus|trans-Golgi network RNA binding|nucleotide binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TACCAGGATGGATTTTATGGT 0.443000 136 66 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21106004 21106004 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:21106004G>A uc002zsz.4 - 25 3114 c.2853C>T c.(2851-2853)acC>acT p.T951T NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 951 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TGTCCAGCATGGTCTTCAGCA 0.602000 75 18 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51470516 51470516 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:51470516G>A uc002puh.3 - 1 198 c.133C>T c.(133-135)Caa>Taa p.Q45* KLK6_uc010eoj.3_Nonsense_Mutation_p.Q36*|KLK6_uc002pui.3_Nonsense_Mutation_p.Q36*|KLK6_uc002puj.3_5'UTR|KLK6_uc010ycn.2_Intron|KLK6_uc002pul.3_Nonsense_Mutation_p.Q36*|KLK6_uc002pum.3_Intron NM_001012965 NP_001012983 Q92876 KLK6_HUMAN Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA. 36 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) AGGGCAGCTTGGTAGGGGTGA 0.567000 32 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179466502 179466502 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179466502C>T uc021vsy.1 - 234 47836 c.47611G>A c.(47611-47613)Gaa>Aaa p.E15871K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9566K|TTN_uc021vta.1_Missense_Mutation_p.E9499K|TTN_uc021vtb.1_Missense_Mutation_p.E9374K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16798 Fibronectin type-III 15. 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) GAGGAGTTTTCAGCAGTCTCC 0.328000 49 22 0 0 1 0 0 ACOX2 8309 broad.mit.edu 37 3 58519830 58519830 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:58519830G>A uc003dkl.3 - 3 541 c.366C>T c.(364-366)ttC>ttT p.F122F NM_003500 NP_003491 Q99424 ACOX2_HUMAN Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA. 122 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) GGGCTCTCACGAAGACTCTGT 0.527000 48 15 0 0 1 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32928676 32928676 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:32928676C>T uc001zgy.1 + 11 2424 c.1702C>T c.(1702-1704)Cct>Tct p.P568S ARHGAP11A_uc010ubw.1_Missense_Mutation_p.P379S|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.P379S NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA. 568 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TGAACTCACCCCTTCCAATTT 0.373000 31 23 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 618054 618055 + Missense_Mutation DNP CC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:618054_618055CC>TT uc001lql.3 - 13 2284_2285 c.2017_2018GG>AA c.(2017-2019)ggg>AAg p.G673K IRF7_uc009ycb.3_5'Flank|IRF7_uc010qwf.2_5'Flank|IRF7_uc001lqf.3_5'Flank|IRF7_uc010qwg.2_5'Flank|IRF7_uc001lqg.3_5'Flank|IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.G673K|CDHR5_uc009ycd.3_Missense_Mutation_p.G667K|CDHR5_uc001lqk.3_Missense_Mutation_p.G479K|CDHR5_uc009ycc.3_Missense_Mutation_p.G507K NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA. 673 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 ACCCAGCACCCCGCCCAGGGCC 0.653000 21 4 0 0 1 0 0 CLCN5 1184 broad.mit.edu 37 X 49855477 49855477 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:49855477C>T uc004dos.1 + 10 2332 c.2084C>T c.(2083-2085)cCc>cTc p.P695L CLCN5_uc004dor.1_Missense_Mutation_p.P765L|CLCN5_uc004doq.1_Missense_Mutation_p.P765L|CLCN5_uc004dot.1_Missense_Mutation_p.P695L NM_000084 NP_000075 P51795 CLCN5_HUMAN Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA. 695 CBS 2. excretion Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane ATP binding|antiporter activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) GACCTTACACCCATGGAGATC 0.493000 12 33 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35449554 35449554 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:35449554G>A uc002nxh.1 - 3 1592 c.1205C>T c.(1204-1206)tCt>tTt p.S402F NM_175872 NP_787068 Q3KQV3 ZN792_HUMAN Homo sapiens zinc finger protein 792 (ZNF792), mRNA. 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GCAGTTGAAAGATTTCCCACA 0.463000 26 8 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196759807 196759807 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:196759807C>T uc002utj.4 - 29 4890 c.4789G>A c.(4789-4791)Gaa>Aaa p.E1597K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1597 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCATCATTTCATATACTTGA 0.373000 33 18 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108627088 108627088 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:108627088G>A uc002tdv.3 + 8 1790 c.1514G>A c.(1513-1515)gGa>gAa p.G505E SLC5A7_uc010ywm.2_Missense_Mutation_p.G258E|SLC5A7_uc010fjj.3_Missense_Mutation_p.G505E|SLC5A7_uc010ywn.2_Missense_Mutation_p.G392E NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 505 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTTGAAAGTGGAACCTTGCCA 0.313000 43 18 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149994 34149994 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:34149994G>A uc004ddg.3 - 0 454 c.402C>T c.(400-402)taC>taT p.Y134Y NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 134 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CCAGATTGGGGTACATGGCCA 0.557000 12 23 0 0 1 0 0 SCN1B 6324 broad.mit.edu 37 19 35524582 35524582 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:35524582C>T uc002nxo.2 + 2 520 c.387C>T c.(385-387)ttC>ttT p.F129F SCN1B_uc002nxp.3_Silent_p.F129F|SCN1B_uc010xsg.2_Intron NM_199037 NP_950238 Q07699 SCN1B_HUMAN Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA. 129 Ig-like C2-type. axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 11 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TGCTCTTCTTCGAAAACTACG 0.552000 52 40 0 0 1 0 0 SLAMF7 57823 broad.mit.edu 37 1 160720152 160720153 + Silent DNP CC TT TT rs144271994 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:160720152_160720153CC>TT uc001fwq.3 + 3 723_724 c.708_709CC>TT c.(706-711)ctcctg>ctTTtg p.236_237LL>LL SLAMF7_uc010pjn.2_Silent_p.142_143LL>LL|SLAMF7_uc001fws.3_Silent_p.129_130LL>LL|SLAMF7_uc001fwr.3_Silent_p.236_237LL>LL|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Intron NM_021181 NP_067004 Q9NQ25 SLAF7_HUMAN Homo sapiens SLAM family member 7 (SLAMF7), mRNA. 236 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGGTGCCCCTCCTGCTCAGTCT 0.500000 124 57 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132207750 132207750 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:132207750C>T uc011ecf.2 + 23 2513 c.2493C>T c.(2491-2493)ttC>ttT p.F831F NM_006208 NP_006199 P22413 ENPP1_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA. 831 Nuclease. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CAACTCACTTCTTTATTGTGC 0.348000 10 13 0 0 1 0 0 ZNF561 93134 broad.mit.edu 37 19 9721101 9721101 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9721101C>T uc002mlu.3 - 5 1441 c.1236G>A c.(1234-1236)ttG>ttA p.L412L ZNF561_uc010dwu.3_Silent_p.L343L|ZNF561_uc010xkr.2_Silent_p.L276L NM_152289 NP_689502 Q8N587 ZN561_HUMAN Homo sapiens zinc finger protein 561 (ZNF561), mRNA. 412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L343F(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 14 TATGAGTTTTCAAATGTTTAC 0.408000 72 35 0 0 1 0 0 NDNF 79625 broad.mit.edu 37 4 121958359 121958359 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:121958359C>T uc003idq.1 - 3 1294 c.767G>A c.(766-768)gGa>gAa p.G256E NM_024574 NP_078850 Q8TB73 CD031_HUMAN Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA. 256 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 AGAAGGAAATCCAAAGTGGGC 0.478000 27 13 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587315 55587315 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55587315G>A uc010rin.2 + 0 210 c.210G>A c.(208-210)gtG>gtA p.V70V NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA. 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TCTCCTTTGTGGATTTCTGCT 0.408000 171 71 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106692121 106692121 + RNA SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:106692121C>T uc021ser.1 - 1154 c.24965G>A Parts of antibodies, mostly variable regions. AGCCCCAGTTCCATGGTGAAT 0.502000 100 40 0 0 1 0 0 CCDC109B 55013 broad.mit.edu 37 4 110606415 110606415 + Silent SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:110606415T>C uc011cfs.2 + 6 964 c.825T>C c.(823-825)acT>acC p.T275T NM_017918 NP_060388 Q9NWR8 C109B_HUMAN Homo sapiens coiled-coil domain containing 109B (CCDC109B), mRNA. 275 integral to membrane breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1) 9 OV - Ovarian serous cystadenocarcinoma(123;6.65e-06) AGGATTATACTTACTCAGCTG 0.358000 28 18 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183713475 183713475 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:183713475G>A uc003ivd.1 + 24 5725 c.5650G>A c.(5650-5652)Gat>Aat p.D1884N NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1884 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CTTCGAATACGATATGTGGGA 0.502000 51 29 0 0 1 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111030 7111030 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:7111030G>A uc001mfc.2 + 0 866 c.679G>A c.(679-681)Gaa>Aaa p.E227K NM_014469 NP_055284 O75526 HNRGT_HUMAN Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA. 227 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex RNA binding|nucleotide binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGACTACCGCGAACCCCGGGG 0.706000 9 4 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439567 145439567 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:145439567C>T uc003lnt.3 + 8 1932 c.1694C>T c.(1693-1695)gCc>gTc p.A565V SH3RF2_uc011dbl.1_Missense_Mutation_p.A565V|SH3RF2_uc011dbm.1_Missense_Mutation_p.A50V|SH3RF2_uc003lnu.3_Missense_Mutation_p.A56V|SH3RF2_uc011dbn.1_Missense_Mutation_p.A56V|SH3RF2_uc011dbo.2_Missense_Mutation_p.A22V NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 565 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCCCCTCAGCCGTGGTGGTG 0.672000 37 20 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49032865 49032865 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:49032865G>A uc003gyv.3 + 10 1578 c.1396G>A c.(1396-1398)Gag>Aag p.E466K CWH43_uc011bzl.2_Missense_Mutation_p.E439K NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 466 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 AACAATTTTGGAGAGTGATGC 0.388000 40 25 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17051542 17051542 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:17051542C>T uc011awc.2 + 2 776 c.680C>T c.(679-681)tCc>tTc p.S227F PLCL2_uc010het.1_Missense_Mutation_p.S109F|PLCL2_uc011awd.2_Missense_Mutation_p.S109F NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 235 PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GTTGCCAACTCCGCAGATGTT 0.408000 69 42 0 0 1 0 0 PION 54103 broad.mit.edu 37 7 76955544 76955544 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:76955544C>T uc003ugf.3 - 22 1891 c.1812G>A c.(1810-1812)cgG>cgA p.R604R PION_uc011kgo.2_5'UTR|PION_uc003ugd.3_5'UTR NM_017439 NP_059135 A4D1B5 GSAP_HUMAN Homo sapiens pigeon homolog (Drosophila) (PION), mRNA. 604 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCATGAGCAGCCGCTGGTGGC 0.517000 54 31 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160813066 160813066 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:160813066C>T uc002ube.2 - 20 3189 c.2977G>A c.(2977-2979)Gaa>Aaa p.E993K PLA2R1_uc010zcp.2_Missense_Mutation_p.E993K|PLA2R1_uc002ubf.3_Missense_Mutation_p.E993K NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 993 C-type lectin 6. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CCCCCTTCTTCAGCACAGAAA 0.433000 52 32 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130117739 130117739 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:130117739C>T uc011mae.2 + 19 2324 c.1923C>T c.(1921-1923)ttC>ttT p.F641F GARNL3_uc011mad.2_Silent_p.F619F|GARNL3_uc010mxi.3_5'UTR NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA. 641 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 TTGAAGAATTCCAGTACATCA 0.453000 228 114 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98187204 98187204 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:98187204C>T uc001drv.3 - 4 482 c.345G>A c.(343-345)atG>atA p.M115I DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.M115I NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 115 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CAGAAAATATCATCTTAGCAG 0.333000 50 21 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38935245 38935245 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:38935245G>A uc002oit.3 + 6 689 c.559G>A c.(559-561)Gag>Aag p.E187K RYR1_uc002oiu.3_Missense_Mutation_p.E187K NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 187 MIR 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.E187K(2) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CGCCAGTGGGGAGCTCCAGGT 0.617000 15 11 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810601 123810601 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:123810601C>T uc001pzk.1 + 0 278 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I92I(1) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CCTACCATTTCCTTTGGTGGA 0.468000 40 18 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49197469 49197469 + Missense_Mutation SNP C T T rs143707827 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:49197469C>T uc001ngy.3 - 7 1222 c.961G>A c.(961-963)Gga>Aga p.G321R FOLH1_uc009yly.3_Missense_Mutation_p.G306R|FOLH1_uc009ylz.3_Missense_Mutation_p.G306R|FOLH1_uc001ngz.3_Missense_Mutation_p.G321R|FOLH1_uc009yma.3_Missense_Mutation_p.G13R NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 321 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.G321R(2)|p.R320K(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TTGAGACTTCCTCTCCAGCTG 0.383000 45 24 0 0 1 0 0 ARL9 132946 broad.mit.edu 37 4 57384864 57384864 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:57384864C>T uc003hby.1 + 2 485 c.37C>T c.(37-39)Cgg>Tgg p.R13W NM_206919 NP_996802 Q6T311 ARL9_HUMAN Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA. 77 GTP binding lung(2) 2 Glioma(25;0.08)|all_neural(26;0.101) TAAACCTTTTCGGTCCTACTG 0.483000 66 33 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133917055 133917055 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:133917055G>A uc004caa.1 + 6 1413 c.1315G>A c.(1315-1317)Gac>Aac p.D439N NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN Homo sapiens laminin, gamma 3 (LAMC3), mRNA. 439 Laminin EGF-like 4. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TGGCAGCCTGGACACCTGTGA 0.542000 29 12 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140176063 140176063 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140176063C>T uc003lhd.2 + 0 1620 c.1514C>T c.(1513-1515)tCg>tTg p.S505L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.S505L|PCDHAC2_uc011czy.2_Missense_Mutation_p.S505L NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 519 Cadherin 5. 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) CGCGCGTTGTCGAGCTACGTT 0.677000 64 28 0 0 1 0 0 FAM86A 196483 broad.mit.edu 37 16 5139180 5139180 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:5139180G>A uc002cyo.2 - 6 869 c.820C>T c.(820-822)Cgg>Tgg p.R274W FAM86A_uc002cyp.2_Missense_Mutation_p.R240W NM_201400 NP_958802 Q96G04 FA86A_HUMAN Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA. 274 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 TCAGGAGCCCGCTGGTGCTCC 0.637000 80 4 0 0 1 0 0 EDF1 8721 broad.mit.edu 37 9 139756759 139756759 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:139756759C>T uc004cjt.1 - 4 452 c.424G>A c.(424-426)Gag>Aag p.E142K NM_003792 NP_003783 O60869 EDF1_HUMAN Homo sapiens endothelial differentiation-related factor 1 (EDF1), transcript variant alpha, mRNA. 142 endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent cytoplasm|nucleolus|nucleus calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity lung(1) 1 all_cancers(76;0.0841)|all_epithelial(76;0.217) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) GGCCCCTTCTCGATGGGCTTT 0.612000 107 57 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25589743 25589743 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:25589743G>A uc002kwg.2 - 4 1099 c.640C>T c.(640-642)Ccc>Tcc p.P214S CDH2_uc010xbn.1_Missense_Mutation_p.P183S NM_001792 NP_001783 P19022 CADH2_HUMAN Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA. 214 Cadherin 1. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CCCGAGATGGGGTTGATAATG 0.488000 85 28 0 0 1 0 0 TRIM39-RPP21 202658 broad.mit.edu 37 6 30314530 30314530 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:30314530C>T uc003nqf.2 + 4 458 c.415C>T c.(415-417)Cat>Tat p.H139Y TRIM39-RPP21_uc010jsa.2_Silent_p.S485S|TRIM39-RPP21_uc021yuc.1_Silent_p.S144S|TRIM39-RPP21_uc003nqe.2_Silent_p.S136S|TRIM39-RPP21_uc003nqd.2_Silent_p.S159S NM_001199121 NP_001186050 A6ZJ12 A6ZJ12_HUMAN Homo sapiens ribonuclease P/MRP 21kDa subunit (RPP21), transcript variant 3, mRNA. 0 intracellular zinc ion binding CAGCCCACTCCATTTCAGACC 0.433000 140 164 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284394 152284394 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:152284394C>T uc001ezu.1 - 2 3004 c.2968G>A c.(2968-2970)Gaa>Aaa p.E990K AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 990 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTCTGTCTTCGTGATGGGAC 0.572000 Ichthyosis 187 107 0 0 1 0 0 ZNF812 729648 broad.mit.edu 37 19 9801409 9801409 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9801409G>A uc021uop.1 - 5 1416 c.770C>T c.(769-771)tCc>tTc p.S257F ZNF812_uc010xkx.2_Missense_Mutation_p.S153F NM_001199814 NP_001186743 P0C7V5 ZN812_HUMAN Homo sapiens zinc finger protein 812 (ZNF812), mRNA. 257 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATTTCTAAAGGATCTTCCACA 0.348000 28 10 0 0 1 0 0 CRH 1392 broad.mit.edu 37 8 67089128 67089128 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:67089128C>T uc022avj.1 - 0 585 c.585G>A c.(583-585)ggG>ggA p.G195G CRH_uc003xvy.2_Silent_p.G195G NM_000756 NP_000747 P06850 CRF_HUMAN Homo sapiens corticotropin releasing hormone (CRH), mRNA. 195 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity breast(1)|endometrium(1)|lung(2)|urinary_tract(1) 5 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) CGTTTTATTTCCCAATAATCT 0.433000 OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 46 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59166667 59166667 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:59166667C>T uc010dps.1 + 1 647 c.495C>T c.(493-495)ttC>ttT p.F165F CDH20_uc002lif.2_Silent_p.F159F NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 165 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) AGCCCAAGTTCCTGGACGGAC 0.498000 47 28 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148009443 148009443 + Missense_Mutation SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:148009443G>C uc001eqq.3 - 15 1896 c.1864C>G c.(1864-1866)Cct>Gct p.P622A NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Missense_Mutation_p.P603A|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc010pad.1_Intron NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA. 622 NBPF 7. cytoplasm p.P622H(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) CAACCTGAAGGAGTTGAATAG 0.478000 497 41 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 3829438 3829438 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:3829438C>T uc003zhx.1 - 9 3241 c.2528G>A c.(2527-2529)aGa>aAa p.R843K GLIS3_uc010mhf.1_Missense_Mutation_p.R237K|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.R688K NM_001042413 NP_001035878 Q8NEA6 GLIS3_HUMAN Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA. 688 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) CGGCACAATTCTCTGGGAATC 0.532000 38 16 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 1005700 1005700 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:1005700C>T uc021qss.1 + 23 7470 c.6827C>T c.(6826-6828)gCc>gTc p.A2276V WNK1_uc001qio.4_Missense_Mutation_p.A2016V|WNK1_uc021qst.1_Missense_Mutation_p.A2268V|WNK1_uc001qip.4_Missense_Mutation_p.A1768V|WNK1_uc001qir.4_Missense_Mutation_p.A1189V NM_001184985 NP_001171914 Q9H4A3 WNK1_HUMAN Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA. 2016 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GACCCGGAGGCCGCTTTTTTA 0.498000 29 13 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36123192 36123192 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:36123192C>T uc003aof.3 + 2 1077 c.1077C>T c.(1075-1077)tcC>tcT p.S359S NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN Homo sapiens apolipoprotein L, 5 (APOL5), mRNA. 359 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 AGACCTGTTCCAGCTCCCGGG 0.587000 42 42 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626719 108626719 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:108626719G>A uc002tdv.3 + 8 1421 c.1145G>A c.(1144-1146)cGa>cAa p.R382Q SLC5A7_uc010ywm.2_Missense_Mutation_p.R135Q|SLC5A7_uc010fjj.3_Missense_Mutation_p.R382Q|SLC5A7_uc010ywn.2_Missense_Mutation_p.R269Q NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 382 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TGGGTTATGCGAATCACAGTG 0.453000 37 15 0 0 1 0 0 ATCAY 85300 broad.mit.edu 37 19 3909578 3909578 + Missense_Mutation SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:3909578G>C uc010xhz.2 + 7 1243 c.760G>C c.(760-762)Ggc>Cgc p.G254R ATCAY_uc002lyy.4_Missense_Mutation_p.G248R|ATCAY_uc010dts.3_Missense_Mutation_p.G5R Q86WG3 ATCAY_HUMAN Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA. 248 CRAL-TRIO. transport protein binding p.G248C(1) breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) GCCTGGAATCGGCTGGCTGAA 0.592000 9 6 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67328566 67328566 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:67328566C>T uc002esu.2 - 10 1558 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K KCTD19_uc002est.2_Missense_Mutation_p.E275K|KCTD19_uc010vjj.1_Missense_Mutation_p.E246K NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA. 503 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) AAAGCTTCTTCATTTTCAGAT 0.493000 60 23 0 0 1 0 0 NIPAL1 152519 broad.mit.edu 37 4 48027120 48027120 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:48027120C>T uc003gxw.3 + 1 148 c.82C>T c.(82-84)Cag>Tag p.Q28* NM_207330 NP_997213 Q6NVV3 NIPA3_HUMAN Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA. 28 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 AAACTCCTCCCAGGCTTGGTG 0.453000 61 41 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588393 247588393 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:247588393C>T uc001icr.3 + 4 1786 c.1648C>T c.(1648-1650)Cgt>Tgt p.R550C NLRP3_uc001ics.3_Missense_Mutation_p.R550C|NLRP3_uc001icu.3_Missense_Mutation_p.R550C|NLRP3_uc001icw.3_Missense_Mutation_p.R550C|NLRP3_uc001icv.3_Missense_Mutation_p.R550C|NLRP3_uc010pyw.2_Missense_Mutation_p.R548C|NLRP3_uc001ict.1_Missense_Mutation_p.R548C NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 550 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCCAGGGAGTCGTTTGAAGCT 0.473000 12 10 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177001897 177001897 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:177001897G>A uc001glc.3 - 2 772 c.560C>T c.(559-561)cCg>cTg p.P187L ASTN1_uc001glb.1_Missense_Mutation_p.P187L|ASTN1_uc001gld.1_Missense_Mutation_p.P187L|ASTN1_uc009wwx.1_Missense_Mutation_p.P187L|ASTN1_uc001gle.4_Non-coding_Transcript NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 187 cell migration|neuron cell-cell adhesion integral to membrane p.V186V(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CTGGGGCTGCGGGACCCGGCG 0.612000 31 20 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597406 136597406 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:136597406C>T uc003qgx.1 - 4 1510 c.1257G>A c.(1255-1257)caG>caA p.Q419Q BCLAF1_uc003qgy.1_Silent_p.Q417Q|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.Q417Q|BCLAF1_uc003qgw.1_Intron NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 419 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AACTTTTACCCTGATCTGCGA 0.418000 180 43 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85997394 85997394 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:85997394G>A uc001kcz.1 - 1 193 c.171C>T c.(169-171)atC>atT p.I57I NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA. 57 LRRNT. integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 TGTCCGGGGGGATGGACGCCG 0.667000 39 31 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111957464 111957464 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:111957464C>T uc001eba.3 - 10 1715 c.1659G>A c.(1657-1659)caG>caA p.Q553Q OVGP1_uc001eaz.3_Silent_p.Q515Q|OVGP1_uc010owb.2_Silent_p.Q201Q NM_002557 NP_002548 Q12889 OVGP1_HUMAN Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA. 553 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) GGGTCTCAGTCTGAAAATGGA 0.542000 76 38 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151784092 151784092 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:151784092C>T uc003luv.2 - 0 749 c.583G>A c.(583-585)Ggg>Agg p.G195R NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA. 195 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) ACCAGGGACCCATTGGGGAAG 0.577000 162 5 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108499134 108499134 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:108499134A>G uc010ywk.2 + 21 5153 c.5071A>G c.(5071-5073)Aaa>Gaa p.K1691E RGPD4_uc002tdu.3_Missense_Mutation_p.K878E|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1691 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CCAGCTTCTCAAAAGTGAAAT 0.393000 30 19 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9631397 9631397 + Missense_Mutation SNP C T T rs76912039 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:9631397C>T uc010cod.3 + 14 2462 c.2462C>T c.(2461-2463)tCc>tTc p.S821F USP43_uc002gma.4_Missense_Mutation_p.S510F|USP43_uc010vva.2_Missense_Mutation_p.S816F|USP43_uc010coe.3_Missense_Mutation_p.S618F|USP43_uc002gmc.4_Missense_Mutation_p.S333F NM_153210 NP_694942 Q70EL4 UBP43_HUMAN Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA. 821 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 TCCTTTGGATCCAAGGAGAAA 0.577000 12 7 0 0 1 0 0 RASSF5 83593 broad.mit.edu 37 1 206711542 206711542 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:206711542C>T uc001hed.3 + 1 556 c.499C>T c.(499-501)Cag>Tag p.Q167* RASSF5_uc001hec.1_Nonsense_Mutation_p.Q167*|RASSF5_uc001hee.3_Nonsense_Mutation_p.Q167* NM_182663 NP_872604 Q8WWW0 RASF5_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA. 167 apoptosis|intracellular signal transduction cytoplasm|microtubule metal ion binding|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CAGCCTGATCCAGTTGGACTG 0.542000 99 52 0 0 1 0 0 PLA2G7 7941 broad.mit.edu 37 6 46682265 46682265 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:46682265C>T uc010jzf.3 - 4 671 c.402G>A c.(400-402)tgG>tgA p.W134* PLA2G7_uc021zae.1_Nonsense_Mutation_p.W134*|PLA2G7_uc011dwd.1_Nonsense_Mutation_p.W89*|PLA2G7_uc011dwe.1_Nonsense_Mutation_p.W7* NM_005084 NP_005075 Q13093 PAFA_HUMAN Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA. 134 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) GAGGGGAATTCCAGTTTGCAG 0.388000 139 33 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40757307 40757307 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:40757307A>G uc001rmg.4 + 47 7253 c.7132A>G c.(7132-7134)Aag>Gag p.K2378E LRRK2_uc009zjw.3_Missense_Mutation_p.K1216E|LRRK2_uc001rmi.3_Missense_Mutation_p.K1211E NM_198578 NP_940980 Q5S007 LRRK2_HUMAN Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA. 2378 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AGTGTGGGATAAGAAAACTGA 0.363000 29 16 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56370100 56370100 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:56370100C>T uc002qmd.4 + 2 1763 c.1341C>T c.(1339-1341)tcC>tcT p.S447S NLRP4_uc002qmf.3_Silent_p.S372S|NLRP4_uc010etf.3_Silent_p.S278S NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 447 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GTGAGAGCTCCTACGTGTTCC 0.537000 66 39 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46309222 46309222 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:46309222G>A uc002zgd.2 - 11 1890 c.1846C>T c.(1846-1848)Ccc>Tcc p.P616S ITGB2_uc002zgf.3_Missense_Mutation_p.P616S|ITGB2_uc011afl.1_Missense_Mutation_p.P538S|ITGB2_uc010gpw.2_Missense_Mutation_p.P559S|ITGB2_uc002zgg.2_Missense_Mutation_p.P616S NM_001127491 NP_001120963 P05107 ITB2_HUMAN Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA. 616 Cysteine-rich tandem repeats. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GGGCAGCCGGGGCACTCCTGG 0.682000 16 17 0 0 1 0 0 IGH 0 broad.mit.edu 37 16 32070575 32070575 + RNA SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:32070575G>A uc002ecv.1 + 0 c.28G>A Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233. CTGGGGCTGAGGTGAAGAAGC 0.587000 42 13 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327032 52327032 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:52327032G>A uc002pxt.1 + 1 215 c.31G>A c.(31-33)Gaa>Aaa p.E11K FPR3_uc021uyq.1_Missense_Mutation_p.E11K NM_002030 NP_002021 P25089 FPR3_HUMAN Homo sapiens formyl peptide receptor 3 (FPR3), mRNA. 11 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TCCTCTGAATGAAACTGAGGA 0.493000 15 16 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642978 1642979 + Missense_Mutation DNP CC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:1642978_1642979CC>TT uc009ycy.1 - 1 327_328 c.240_241GG>AA c.(238-243)gggggt>ggAAgt p.G81S MOB2_uc001ltq.2_Intron NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA. 176 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCTTGGAACCCCCACAGGAGC 0.663000 68 26 0 0 1 0 0 WFDC8 90199 broad.mit.edu 37 20 44180676 44180676 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:44180676G>A uc002xow.3 - 5 794 c.715C>T c.(715-717)Ccc>Tcc p.P239S WFDC8_uc002xox.3_Missense_Mutation_p.P239S NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA. 239 WAP 3. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) CAACGTCTGGGGTCCATACAT 0.398000 86 35 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44951641 44951641 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:44951641G>A uc003coc.4 + 10 1460 c.1387G>A c.(1387-1389)Gag>Aag p.E463K NM_003241 NP_003232 P49221 TGM4_HUMAN Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA. 463 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) TTCTGAGAGGGAGCACAGACG 0.478000 29 13 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31299667 31299667 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:31299667G>A uc003jhe.2 + 4 1100 c.740G>A c.(739-741)gGa>gAa p.G247E CDH6_uc003jhd.2_Missense_Mutation_p.G247E NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 247 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CAGATGGGAGGATTATCTGGG 0.478000 68 34 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118498710 118498710 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:118498710C>T uc001ptr.2 + 6 1524 c.1171C>T c.(1171-1173)Ccc>Tcc p.P391S PHLDB1_uc001pts.3_Missense_Mutation_p.P391S|PHLDB1_uc001ptt.3_Missense_Mutation_p.P391S|PHLDB1_uc001ptu.2_Intron|PHLDB1_uc001ptv.2_Missense_Mutation_p.P191S|PHLDB1_uc001ptw.2_5'Flank NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA. 391 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) AGTCCCTGCTCCCCGAAACAA 0.607000 116 53 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93127783 93127783 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:93127783G>A uc001pdq.3 + 9 1300 c.1200G>A c.(1198-1200)atG>atA p.M400I CCDC67_uc001pdo.1_Missense_Mutation_p.M400I|CCDC67_uc001pdp.3_Missense_Mutation_p.M400I NM_181645 NP_857596 Q05D60 CCD67_HUMAN Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA. 400 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) AGTTAAAAATGGAATTAGAAA 0.383000 17 9 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51129274 51129274 + Splice_Site SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:51129274C>T uc002pst.3 - 5 1916 c.1282_splice c.e5-1 p.E428_splice SYT3_uc002psv.3_Splice_Site_p.E428_splice|SYT3_uc010ycd.2_Splice_Site_p.E428_splice NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA. 428 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) TCTGCTTTTTCCTGCAGTTGG 0.547000 17 13 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141130 143141130 + Missense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:143141130C>G uc011ktg.2 + 0 585 c.585C>G c.(583-585)ttC>ttG p.F195L LOC285965_uc003wda.3_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA. 195 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity p.L194F(1) breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TCTATCTCTTCCCTCTAAAAA 0.423000 199 56 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121785620 121785620 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:121785620C>T uc003ksw.1 + 8 1879 c.1673C>T c.(1672-1674)cCt>cTt p.P558L SNCAIP_uc011cwl.1_Missense_Mutation_p.P116L|SNCAIP_uc003ksy.1_Missense_Mutation_p.P192L|SNCAIP_uc003ksx.1_Missense_Mutation_p.P605L|SNCAIP_uc003ksz.1_Missense_Mutation_p.P192L|SNCAIP_uc010jcu.2_Missense_Mutation_p.P154L|SNCAIP_uc011cwm.1_Missense_Mutation_p.P192L|SNCAIP_uc003kta.1_Missense_Mutation_p.P190L|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.P252L|SNCAIP_uc010jcx.1_Missense_Mutation_p.P498L|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P74L NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 558 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AAGTCACTCCCTTCTTCACCC 0.408000 59 29 0 0 1 0 0 CXorf21 80231 broad.mit.edu 37 X 30578348 30578348 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:30578348G>A uc022bui.1 - 0 125 c.125C>T c.(124-126)tCc>tTc p.S42F CXorf21_uc004dcg.2_Missense_Mutation_p.S42F NM_025159 NP_079435 Q9HAI6 CX021_HUMAN Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA. 42 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 AGAGGAATAGGAAAGGGTAGC 0.453000 18 63 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39633403 39633403 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:39633403G>A uc002hws.3 - 6 1316 c.1273C>T c.(1273-1275)Ccc>Tcc p.P425S NM_002280 NP_002271 Q92764 KRT35_HUMAN Homo sapiens keratin 35 (KRT35), mRNA. 425 Tail. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) GGAAGACAGGGAAGGCATGAC 0.562000 33 19 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117868435 117868435 + Missense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:117868435C>G uc003yod.3 - 7 1195 c.907G>C c.(907-909)Gca>Cca p.A303P NM_006265 NP_006256 O60216 RAD21_HUMAN Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA. 303 Interaction with WAPAL and PDS5B. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) AATGCAAATGCTTCTTCCTCA 0.403000 217 11 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101365135 101365135 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:101365135G>A uc010svm.1 + 5 1080 c.508G>A c.(508-510)Gaa>Aaa p.E170K ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.E135K|ANO4_uc001thx.2_Missense_Mutation_p.E170K NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 170 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TGCCCCATGGGAAGTCCTTGG 0.368000 HNSCC(74;0.22) 58 35 0 0 1 0 0 GRHL1 29841 broad.mit.edu 37 2 10101555 10101555 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:10101555G>A uc002raa.3 + 3 830 c.659G>A c.(658-660)gGc>gAc p.G220D GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Missense_Mutation_p.A57T|GRHL1_uc010yjb.2_Missense_Mutation_p.G69D NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA. 220 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TTCAAGGAAGGCGTTCAGGAG 0.463000 46 32 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201063015 201063015 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:201063015G>A uc001gvv.3 - 2 620 c.393C>T c.(391-393)ttC>ttT p.F131F NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 131 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTCACCCCAGGAAGACAATGG 0.577000 55 22 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44073845 44073845 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:44073845C>T uc002ijr.4 + 9 1910 c.1588C>T c.(1588-1590)Ccg>Tcg p.P530S MAPT_uc010dau.3_Missense_Mutation_p.P548S|MAPT_uc002ijs.4_Missense_Mutation_p.P213S|MAPT_uc002ijx.4_Missense_Mutation_p.P184S|MAPT_uc021tyv.1_Missense_Mutation_p.P213S|MAPT_uc002ijt.4_Missense_Mutation_p.P155S|MAPT_uc021tyw.1_Missense_Mutation_p.P184S|MAPT_uc002iju.4_Missense_Mutation_p.P155S|STH_uc002ijy.2_5'Flank NM_016835 NP_058519 P10636 TAU_HUMAN Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA. 530 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) CTCCCGCACCCCGTCCCTTCC 0.677000 12 11 0 0 1 0 0 IGFBP6 3489 broad.mit.edu 37 12 53495840 53495840 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:53495840C>T uc001sbu.1 + 3 678 c.612C>T c.(610-612)tcC>tcT p.S204S SOAT2_uc001sbv.3_5'Flank|SOAT2_uc009zms.3_5'Flank NM_002178 NP_002169 P24592 IBP6_HUMAN Homo sapiens insulin-like growth factor binding protein 6 (IGFBP6), mRNA. 204 Thyroglobulin type-1. negative regulation of cell proliferation|regulation of cell growth|signal transduction large_intestine(1)|lung(3)|ovary(1)|pancreas(1) 6 GCCGCTCCTCCCAGGGGCAGC 0.612000 37 17 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76482354 76482354 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:76482354G>A uc010dhp.2 - 44 7178 c.7053C>T c.(7051-7053)ttC>ttT p.F2351F NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGGTGAACACGAAGTACAGCT 0.627000 19 5 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31391650 31391650 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:31391650G>A uc002ebt.3 + 26 3191 c.3124G>A c.(3124-3126)Gag>Aag p.E1042K ITGAX_uc002ebu.1_Missense_Mutation_p.E1042K NM_000887 NP_000878 P20702 ITAX_HUMAN Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA. 1042 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CGTCCAGGAGGAGCTGGATTT 0.622000 24 12 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8621267 8621267 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:8621267G>A uc003glm.3 + 10 2056 c.1882G>A c.(1882-1884)Gac>Aac p.D628N CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.D617N|CPZ_uc003gln.3_Missense_Mutation_p.D491N NM_001014447 NP_001014448 Q66K79 CBPZ_HUMAN Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA. 628 Wnt receptor signaling pathway|proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GCCCTCGGCCGACGGGAGTAA 0.716000 26 20 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39607459 39607459 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:39607459C>T uc003oot.2 - 3 421 c.326G>A c.(325-327)gGg>gAg p.G109E KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Missense_Mutation_p.G109E|KIF6_uc010jxb.1_Missense_Mutation_p.G109E NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN Homo sapiens kinesin family member 6 (KIF6), mRNA. 109 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CTCTGCACCCCCTGTGATAGT 0.423000 139 31 0 0 1 0 0 CABP4 57010 broad.mit.edu 37 11 67225861 67225861 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:67225861G>A uc001olo.3 + 4 748 c.671G>A c.(670-672)gGa>gAa p.G224E CABP4_uc001oln.3_Missense_Mutation_p.G119E NM_145200 NP_660201 P57796 CABP4_HUMAN Homo sapiens calcium binding protein 4 (CABP4), mRNA. 224 EF-hand 3. visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GACAGGGATGGACGAATTACG 0.602000 50 17 0 0 1 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133930898 133930898 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:133930898G>A uc001lkx.4 + 1 453 c.453G>A c.(451-453)aaG>aaA p.K151K NM_001105521 NP_001098991 Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA. breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGGTGGAGAAGGTCAAGATGC 0.622000 41 21 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92088221 92088221 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:92088221G>A uc001pdj.4 + 0 2960 c.2943G>A c.(2941-2943)ggG>ggA p.G981G NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 981 Cadherin 9. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACTATAATGGGAGATTTGAAA 0.458000 TCGA Ovarian(4;0.039) 9 3 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87623858 87623858 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:87623858C>T uc003ydx.3 - 13 1668 c.1620G>A c.(1618-1620)ttG>ttA p.L540L CNGB3_uc010maj.3_Silent_p.L402L NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 540 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GAACGGATTTCAATCTTAGCA 0.328000 30 95 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125622205 125622205 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:125622205G>A uc001lhk.1 - 2 763 c.438C>T c.(436-438)atC>atT p.I146I CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 146 F5/8 type C. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GGAAGTCTGTGATTTTTAAGG 0.498000 33 16 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74276032 74276032 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:74276032G>A uc003hgs.4 + 5 692 c.619G>A c.(619-621)Gat>Aat p.D207N ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.D97N NM_000477 NP_000468 P02768 ALBU_HUMAN Homo sapiens albumin (ALB), mRNA. 207 Albumin 1. 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 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) TTTGTAGCTCGATGAACTTCG 0.383000 32 15 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9017418 9017418 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9017418G>A uc002mkp.3 - 25 38110 c.37906C>T c.(37906-37908)Ctg>Ttg p.L12636L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12638 SEA 4. 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 AGCTGGCTCAGCTCCCAGTAT 0.572000 104 51 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150767594 150767594 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150767594C>T uc022apz.1 + 10 2540 c.1500C>T c.(1498-1500)tcC>tcT p.S500S SLC4A2_uc003wit.4_Silent_p.S500S|SLC4A2_uc011kve.2_Silent_p.S491S|SLC4A2_uc003wiu.4_Silent_p.S486S NM_001199692 NP_001186621 P04920 B3A2_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA. 500 bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTCCAAGTCCAAGCACGAGC 0.637000 18 18 0 0 1 0 0 UBA6 55236 broad.mit.edu 37 4 68500193 68500193 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:68500193G>A uc003hdg.4 - 20 1938 c.1886C>T c.(1885-1887)tCc>tTc p.S629F UBA6_uc003hdh.1_Missense_Mutation_p.S155F NM_018227 NP_060697 A0AVT1 UBA6_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA. 629 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 AGCTGGAAAGGATTTTAGAGT 0.333000 54 29 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107006984 107006984 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:107006984C>T uc001kyi.1 + 21 3227 c.3000C>T c.(2998-3000)ttC>ttT p.F1000F SORCS3_uc010qqz.1_Non-coding_Transcript NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 1000 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAGAATATTTCCAGTCCCAGC 0.468000 35 7 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50805720 50805720 + Missense_Mutation SNP G A A rs80338915 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:50805720G>A uc003pag.3 + 4 1020 c.854G>A c.(853-855)cGa>cAa p.R285Q NM_003221 NP_003212 Q92481 AP2B_HUMAN Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA. 285 R -> Q (in CHAR). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R285*(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) AGATCTTTGCGAGAAAGGCTA 0.438000 110 79 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94411922 94411922 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:94411922C>T uc011cdt.2 + 11 2249 c.1991C>T c.(1990-1992)tCc>tTc p.S664F GRID2_uc011cdu.2_Missense_Mutation_p.S569F NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 664 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATTGAAAGTTCCATCCAGTAA 0.393000 37 33 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42848946 42848946 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:42848946C>T uc002otl.4 + 11 2693 c.2058C>T c.(2056-2058)ctC>ctT p.L686L MEGF8_uc002otm.4_Silent_p.L227L NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA. 754 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TGCACTTGCTCACCTTTCAGC 0.617000 61 25 0 0 1 0 0 OR5P3 120066 broad.mit.edu 37 11 7847415 7847415 + Nonsense_Mutation SNP A C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:7847415A>C uc010rbg.2 - 0 105 c.105T>G c.(103-105)taT>taG p.Y35* NM_153445 NP_703146 Q8WZ94 OR5P3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA. 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGTGACAACATAAATTCCTA 0.373000 55 15 0 0 1 0 0 ZNF81 347344 broad.mit.edu 37 X 47774667 47774667 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:47774667C>T uc022bvq.1 + 4 871 c.622C>T c.(622-624)Cat>Tat p.H208Y ZNF81_uc010nhy.2_Missense_Mutation_p.H208Y NM_007137 NP_009068 P51508 ZNF81_HUMAN Homo sapiens zinc finger protein 81 (ZNF81), mRNA. 208 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) CTTACATATTCATAATAAAAG 0.348000 6 23 0 0 1 0 0 SLC16A5 9121 broad.mit.edu 37 17 73094203 73094203 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:73094203C>T uc002jmr.3 + 3 642 c.270C>T c.(268-270)gcC>gcT p.A90A SLC16A5_uc002jmt.3_Silent_p.A90A|SLC16A5_uc002jmu.3_Silent_p.A90A|SLC16A5_uc010wrt.2_Silent_p.A130A NM_004695 NP_004686 O15375 MOT6_HUMAN Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA. 90 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) GCGTGCTGGCCAGCCTGGGCA 0.597000 59 64 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27803387 27803388 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:27803387_27803388GG>AA uc002rkz.4 + 0 3999_4000 c.3948_3949GG>AA c.(3946-3951)agggaa>agAAaa p.E1317K ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 1317 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GTCCTTCTAGGGAATTAGCAGC 0.401000 21 15 0 0 1 0 0 CHRDL2 25884 broad.mit.edu 37 11 74415665 74415665 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:74415665C>T uc001ovh.3 - 6 870 c.617G>A c.(616-618)gGg>gAg p.G206E CHRDL2_uc001ovg.3_Missense_Mutation_p.G90E|CHRDL2_uc001ovi.3_Missense_Mutation_p.G206E|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Missense_Mutation_p.G206E NM_015424 NP_056239 Q6WN34 CRDL2_HUMAN Homo sapiens chordin-like 2 (CHRDL2), mRNA. 206 cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) TCTCTTTCTCCCAGCATCACT 0.597000 11 16 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5332977 5332977 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:5332977C>T uc003gih.1 + 3 355 c.291C>T c.(289-291)ttC>ttT p.F97F STK32B_uc010ida.1_Silent_p.F50F NM_018401 NP_060871 Q9NY57 ST32B_HUMAN Homo sapiens serine/threonine kinase 32B (STK32B), mRNA. 97 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 AGGACATGTTCATGGTGGTGG 0.552000 43 33 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125329866 125329866 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:125329866C>T uc004bmp.1 - 0 891 c.891G>A c.(889-891)ctG>ctA p.L297L NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA. 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GGCCCTGTTTCAGGTCTTTGT 0.453000 71 36 0 0 1 0 0 SLC35G5 83650 broad.mit.edu 37 8 11189329 11189329 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:11189329C>T uc003wtp.1 + 0 835 c.714C>T c.(712-714)ctC>ctT p.L238L NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA. 238 integral to membrane TGCCAGGCCTCTTTGTGCTGC 0.607000 36 3 0 0 1 0 0 MIA2 117153 broad.mit.edu 37 14 39716716 39716716 + Missense_Mutation SNP G A A rs140694928 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:39716716G>A uc001wux.3 + 3 1132 c.938G>A c.(937-939)gGa>gAa p.G313E MIA2_uc010amy.2_Missense_Mutation_p.G244E NM_054024 NP_473365 Q96PC5 MIA2_HUMAN Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA. 313 extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) TTTGGTGGAGGATTTACAAGT 0.403000 60 37 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 171958126 171958126 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:171958126G>A uc001gie.3 + 3 603 c.427G>A c.(427-429)Gtg>Atg p.V143M DNM3_uc001gid.4_Missense_Mutation_p.V143M|DNM3_uc009wwb.2_Missense_Mutation_p.V143M|DNM3_uc001gif.3_Missense_Mutation_p.V143M NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA. 143 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 AATAACTAAAGTGCCTGTGGG 0.393000 9 6 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16908678 16908678 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:16908678C>T uc002neu.4 + 15 3862 c.3440C>T c.(3439-3441)tCc>tTc p.S1147F NWD1_uc002net.4_Missense_Mutation_p.S1012F|NWD1_uc002nev.4_Missense_Mutation_p.S941F|NWD1_uc021uqg.1_Missense_Mutation_p.S1012F NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 1147 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ATCACGGGGTCCCTTGATGCG 0.522000 141 72 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825340 4825340 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4825340G>A uc021qcs.1 - 0 271 c.271C>T c.(271-273)Cat>Tat p.H91Y NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TCATGAGCATGAAACCAGAAT 0.527000 60 27 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71887755 71887755 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:71887755C>T uc010fen.3 + 44 5118 c.4977C>T c.(4975-4977)ccC>ccT p.P1659P DYSF_uc010fei.3_Silent_p.P1637P|DYSF_uc010feh.3_Silent_p.P1627P|DYSF_uc002sig.4_Silent_p.P1606P|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.P1651P|DYSF_uc010fee.3_Silent_p.P1641P|DYSF_uc010fef.3_Silent_p.P1658P|DYSF_uc002sie.3_Silent_p.P1620P|DYSF_uc010feo.3_Silent_p.P1652P|DYSF_uc010fej.3_Silent_p.P1628P|DYSF_uc010fel.3_Silent_p.P1607P|DYSF_uc010fem.3_Silent_p.P1642P|DYSF_uc002sif.3_Silent_p.P1621P|DYSF_uc010fek.3_Silent_p.P1638P|DYSF_uc010yqy.2_Silent_p.P501P|DYSF_uc010yqz.2_Silent_p.P381P NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1620 C2 5. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 ACTACATCCCCTGCACGCTGG 0.498000 45 27 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021485 132021485 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:132021485G>A uc002tsn.2 + 14 2509 c.2457G>A c.(2455-2457)atG>atA p.M819I PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.M419I|POTEE_uc002tsl.2_Missense_Mutation_p.M401I|POTEE_uc010fmy.1_Missense_Mutation_p.M283I NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 819 Actin-like. ATP binding GCGAGAAGATGACCCAGATCA 0.617000 142 65 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587879 247587879 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:247587879G>A uc001icr.3 + 4 1272 c.1134G>A c.(1132-1134)agG>agA p.R378R NLRP3_uc001ics.3_Silent_p.R378R|NLRP3_uc001icu.3_Silent_p.R378R|NLRP3_uc001icw.3_Silent_p.R378R|NLRP3_uc001icv.3_Silent_p.R378R|NLRP3_uc010pyw.2_Silent_p.R376R|NLRP3_uc001ict.1_Silent_p.R376R NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 378 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AGGCCAAAAGGAAAGAGTACT 0.542000 32 14 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87370852 87370852 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:87370852C>T uc003ujb.3 + 6 1048 c.637C>T c.(637-639)Cct>Tct p.P213S RUNDC3B_uc011khd.1_Missense_Mutation_p.P196S|RUNDC3B_uc011khe.2_Missense_Mutation_p.P196S|RUNDC3B_uc003ujc.3_Missense_Mutation_p.P196S|RUNDC3B_uc003ujd.3_Missense_Mutation_p.P118S NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA. 213 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) TGGCAGTTTTCCTGCTGTAAT 0.274000 28 13 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215823125 215823125 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:215823125G>A uc002vew.3 - 40 6213 c.5993C>T c.(5992-5994)tCt>tTt p.S1998F ABCA12_uc002vev.3_Missense_Mutation_p.S1680F|ABCA12_uc010zjn.2_Missense_Mutation_p.S925F NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 1998 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GGTGGTGACAGAGTAGCCCAT 0.438000 49 19 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20975956 20975956 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:20975956G>A uc010vbe.2 - 52 9250 c.9250C>T c.(9250-9252)Cct>Tct p.P3084S DNAH3_uc010vbd.2_Missense_Mutation_p.P519S NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3084 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.P3084L(1) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGCCCGTGAGGGTCAATCATT 0.478000 31 21 0 0 1 0 0 SPDYA 245711 broad.mit.edu 37 2 29052083 29052083 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:29052083G>A uc002rmj.3 + 5 656 c.450G>A c.(448-450)ggG>ggA p.G150G SPDYA_uc002rmi.3_Silent_p.G150G|SPDYA_uc002rmk.3_Silent_p.G150G|SPDYA_uc002rml.3_Silent_p.G150G NM_182756 NP_877433 Q5MJ70 SPDYA_HUMAN Homo sapiens speedy homolog A (Xenopus laevis) (SPDYA), transcript variant 1, mRNA. 150 Speedy/Ringo box; Required for CDK- binding (By similarity). G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus nucleus protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) GGGCTTTAGGGAAAAACTGGA 0.383000 25 13 0 0 1 0 0 UBE2O 63893 broad.mit.edu 37 17 74395863 74395863 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:74395863G>A uc002jrm.4 - 8 1360 c.1295C>T c.(1294-1296)cCt>cTt p.P432L UBE2O_uc002jrn.4_Missense_Mutation_p.P432L|UBE2O_uc002jrl.4_Missense_Mutation_p.P35L NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA. 432 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 CGTCTCCTCAGGGCTGGCAGA 0.617000 44 34 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78473204 78473204 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:78473204G>A uc002bdh.3 - 8 1352 c.1146C>T c.(1144-1146)atC>atT p.I382I ACSBG1_uc010umx.2_Silent_p.I140I|ACSBG1_uc010umw.2_Silent_p.I378I|ACSBG1_uc010umy.2_Silent_p.I275I NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA. 382 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 TGCGCTCCATGATCTTCTCCC 0.627000 62 33 0 0 1 0 0 SH3GL2 6456 broad.mit.edu 37 9 17795603 17795604 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:17795603_17795604GG>AA uc003zna.3 + 8 1209_1210 c.921_922GG>AA c.(919-924)ggggag>ggAAag p.E308K SH3GL2_uc011lmy.2_Missense_Mutation_p.E261K NM_003026 NP_003017 Q99962 SH3G2_HUMAN Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA. 308 SH3. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport Golgi membrane|cytosol|plasma membrane identical protein binding|lipid binding p.E308K(2)|p.G307R(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) AAAATGAAGGGGAGTTGGGATT 0.480000 27 11 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53834367 53834367 + Missense_Mutation SNP G A A rs148898845 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:53834367G>A uc003dgv.4 + 40 5178 c.5015G>A c.(5014-5016)cGa>cAa p.R1672Q CACNA1D_uc003dgu.4_Missense_Mutation_p.R1692Q|CACNA1D_uc003dgy.4_Missense_Mutation_p.R1657Q|CACNA1D_uc003dgw.4_Missense_Mutation_p.R1339Q|CACNA1D_uc003dgx.1_Missense_Mutation_p.R848Q|CACNA1D_uc011bes.2_Non-coding_Transcript NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 1672 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GAAACAAAACGAGAAGAAGAA 0.468000 50 21 0 0 1 0 0 PSMA8 143471 broad.mit.edu 37 18 23724572 23724572 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:23724572C>T uc002kvq.3 + 1 266 c.152C>T c.(151-153)tCt>tTt p.S51F PSMA8_uc002kvo.3_Intron|PSMA8_uc002kvp.3_Missense_Mutation_p.S51F|PSMA8_uc002kvr.3_Missense_Mutation_p.S25F NM_144662 NP_653263 Q8TAA3 PSA7L_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA. 51 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2) 16 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) GAAAAAAAATCTGTTGCCAAG 0.358000 61 35 0 0 1 0 0 HEATR8 374977 broad.mit.edu 37 1 55119800 55119800 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:55119800G>A uc010ooe.1 + 2 1525 c.1201G>A c.(1201-1203)Gac>Aac p.D401N HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.D401N|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.D401N|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 401 integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CGCAGGCAAGGACGCCGTGAC 0.597000 8 7 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167183300 167183300 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:167183300G>A uc003fes.1 - 3 741 c.670C>T c.(670-672)Cca>Tca p.P224S SERPINI2_uc003fer.1_Missense_Mutation_p.P214S|SERPINI2_uc003fet.1_Missense_Mutation_p.P214S NM_006217 NP_006208 O75830 SPI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA. 214 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.P214S(1) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TTCATCATTGGAATTTTGACA 0.318000 27 8 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566602 45566602 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:45566602C>T uc010dnv.3 - 2 1379 c.943G>A c.(943-945)Gag>Aag p.E315K ZBTB7C_uc002ldb.3_Missense_Mutation_p.E293K|ZBTB7C_uc010dnu.3_Missense_Mutation_p.E302K|ZBTB7C_uc010dnw.3_Missense_Mutation_p.E293K|ZBTB7C_uc010dnx.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dny.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dnz.1_Missense_Mutation_p.E315K|ZBTB7C_uc010doi.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doj.1_Missense_Mutation_p.E302K|ZBTB7C_uc010dok.1_Missense_Mutation_p.E342K|ZBTB7C_uc010dol.1_Missense_Mutation_p.E302K|ZBTB7C_uc010doa.1_Missense_Mutation_p.E315K|ZBTB7C_uc010dob.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doc.1_Missense_Mutation_p.E302K|ZBTB7C_uc010dod.1_Missense_Mutation_p.E315K|ZBTB7C_uc010doe.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dof.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dog.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doh.1_Missense_Mutation_p.E302K|ZBTB7C_uc010dom.1_Missense_Mutation_p.E302K|ZBTB7C_uc010don.1_Missense_Mutation_p.E301K|ZBTB7C_uc010dop.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doq.1_Missense_Mutation_p.E302K|ZBTB7C_uc010dor.1_Missense_Mutation_p.E315K|ZBTB7C_uc010dos.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dot.1_Missense_Mutation_p.E293K|ZBTB7C_uc010doo.1_Missense_Mutation_p.E293K|ZBTB7C_uc010dou.1_Missense_Mutation_p.E302K NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA. 293 Pro-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 TCCTCCTTCTCCTCCTCCTTG 0.617000 63 15 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42235978 42235978 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:42235978G>A uc003ose.2 - 4 1914 c.1351C>T c.(1351-1353)Cgc>Tgc p.R451C TRERF1_uc011duq.1_Missense_Mutation_p.R451C|TRERF1_uc003osb.2_Missense_Mutation_p.R290C|TRERF1_uc003osc.2_Missense_Mutation_p.R290C|TRERF1_uc003osd.2_Missense_Mutation_p.R451C NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 451 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGGAGGGGGCGATGGGGGAGG 0.637000 72 54 0 0 1 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 158970531 158970531 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:158970531G>A uc003fcq.2 + 2 271 c.90G>A c.(88-90)atG>atA p.M30I IQCJ-SCHIP1_uc003fcr.2_Intron|IQCJ-SCHIP1_uc003fco.3_Missense_Mutation_p.M30I|IQCJ-SCHIP1_uc003fcp.2_Missense_Mutation_p.M30I|IQCJ-SCHIP1_uc010hvy.2_Intron NM_001197113 NP_001184042 Q9P0W5 SCHI1_HUMAN Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA. 0 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 AGCTGGCCATGGATGCAGAGA 0.333000 20 12 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32631980 32631980 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:32631980G>A uc003zrg.1 - 0 3688 c.3598C>T c.(3598-3600)Cgc>Tgc p.R1200C AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 1200 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GTCTCACAGCGAACATACTCT 0.428000 77 50 0 0 1 0 0 DTX3L 151636 broad.mit.edu 37 3 122289499 122289499 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:122289499C>T uc003efk.3 + 3 2222 c.2133C>T c.(2131-2133)tcC>tcT p.S711S DTX3L_uc010hrj.3_Silent_p.S199S|DTX3L_uc021xdb.1_3'UTR NM_138287 NP_612144 Q8TDB6 DTX3L_HUMAN Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA. 711 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) ACAAAACATCCCGGTTTGGAG 0.423000 37 19 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70331460 70331460 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:70331460C>T uc001oqc.3 - 20 4852 c.4740G>A c.(4738-4740)ctG>ctA p.L1580L SHANK2_uc010rqn.2_Silent_p.L1056L|SHANK2_uc001opz.3_Silent_p.L1051L|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 1267 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TTGGTGAATCCAGTCCTTCCC 0.552000 55 34 0 0 1 0 0 LLPH 84298 broad.mit.edu 37 12 66517682 66517682 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:66517682C>T uc010ssw.2 - 2 384 c.328G>A c.(328-330)Gag>Aag p.E110K LLPH_uc010ssx.2_Non-coding_Transcript NM_032338 NP_115714 Q9BRT6 LLPH_HUMAN Homo sapiens LLP homolog, long-term synaptic facilitation (Aplysia) (LLPH), mRNA. 110 Lys-rich. p.R109*(1) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1) 5 TTTCTTTTCTCTCGCTTTGCC 0.423000 58 21 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36570342 36570342 + Silent SNP G A A rs144959929 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:36570342G>A uc003cgh.1 + 9 1014 c.975G>A c.(973-975)ggG>ggA p.G325G STAC_uc011aya.1_Silent_p.G264G NM_003149 NP_003140 Q99469 STAC_HUMAN Homo sapiens SH3 and cysteine rich domain (STAC), mRNA. 325 SH3. intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 CCTTTCAGGGGAAAATTCAAG 0.338000 21 3 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321563 52321563 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:52321563G>A uc003xqu.4 - 16 2722 c.2621C>T c.(2620-2622)cCc>cTc p.P874L PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 874 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CGTCGCAGAGGGACGGCCGCT 0.652000 9 39 0 0 1 0 0 BCL2L15 440603 broad.mit.edu 37 1 114424588 114424588 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:114424588G>A uc001edw.3 - 2 453 c.281C>T c.(280-282)tCt>tTt p.S94F LOC100287722_uc001edv.1_Intron|BCL2L15_uc001edx.3_Intron|BCL2L15_uc001edy.3_Intron|BCL2L15_uc001edz.1_Non-coding_Transcript NM_001010922 NP_001010922 Q5TBC7 B2L15_HUMAN Homo sapiens BCL2-like 15 (BCL2L15), mRNA. 94 apoptosis breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1) 9 Lung SC(450;0.184) all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTGCTGAGAGATTCCACAGT 0.473000 20 7 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102738691 102738692 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:102738691_102738692GG>AA uc001krw.2 + 6 1113_1114 c.729_730GG>AA c.(727-732)acggag>acAAag p.E244K SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc010qpt.1_Missense_Mutation_p.E244K|SEMA4G_uc001krx.3_Missense_Mutation_p.E244K|MRPL43_uc001kry.1_3'UTR|MRPL43_uc010qpu.1_3'UTR NM_017893 NP_060363 Q9NTN9 SEM4G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA. 244 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) ACTTCTTCACGGAGCGTGCCAC 0.604000 26 14 0 0 1 0 0 BLK 640 broad.mit.edu 37 8 11407759 11407759 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:11407759G>A uc003wty.3 + 5 1041 c.460G>A c.(460-462)Gaa>Aaa p.E154K NM_001715 NP_001706 P51451 BLK_HUMAN Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA. 154 SH2. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CAGAGAGAGTGAAACCAACAA 0.572000 13 15 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115401232 115401232 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:115401232G>A uc001efr.3 + 5 565 c.356G>A c.(355-357)tGg>tAg p.W119* SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Nonsense_Mutation_p.W119*|SYCP1_uc009wgw.3_Nonsense_Mutation_p.W119* NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 119 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATAAAAAAATGGAAAGTAAGT 0.328000 47 13 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146080637 146080637 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:146080637G>A uc011dbv.2 - 3 576 c.313C>T c.(313-315)Cgg>Tgg p.R105W PPP2R2B_uc010jgm.3_Missense_Mutation_p.R36W|PPP2R2B_uc003loe.3_Missense_Mutation_p.R47W|PPP2R2B_uc003log.4_Missense_Mutation_p.R47W|PPP2R2B_uc003lof.4_Missense_Mutation_p.R47W|PPP2R2B_uc003loi.4_Missense_Mutation_p.R50W|PPP2R2B_uc003loh.4_Missense_Mutation_p.R47W|PPP2R2B_uc003lok.4_Missense_Mutation_p.R36W|PPP2R2B_uc003loj.4_Missense_Mutation_p.R27W|PPP2R2B_uc011dbu.2_Missense_Mutation_p.R53W NM_181675 NP_858061 Q00005 2ABB_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA. 47 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTACAACCCGACCCCCCTTG 0.438000 324 208 0 0 1 0 0 GPR126 57211 broad.mit.edu 37 6 142736952 142736952 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:142736952C>T uc010khe.3 + 19 3100 c.2689C>T c.(2689-2691)Ccc>Tcc p.P897S GPR126_uc010khc.3_Missense_Mutation_p.P897S|GPR126_uc010khd.3_Missense_Mutation_p.P869S|GPR126_uc010khf.3_Missense_Mutation_p.P869S NM_198569 NP_940971 Q86SQ4 GP126_HUMAN Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA. 897 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P868S(1)|p.P897S(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) AAGGGATTATCCCTCCAAAAT 0.403000 15 24 0 0 1 0 0 KCND1 3750 broad.mit.edu 37 X 48820004 48820004 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:48820004G>A uc004dlx.1 - 5 3355 c.1782C>T c.(1780-1782)ttC>ttT p.F594F KCND1_uc004dlw.1_Silent_p.F217F NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA. 594 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 TGGCAGCCACGAAGTCCCGGC 0.617000 6 8 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 77850847 77850847 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:77850847G>A uc002ffg.1 + 1 360 c.263G>A c.(262-264)cGa>cAa p.R88Q NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA. 88 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 TTGATGGTGCGACAAGGGAAT 0.448000 35 22 0 0 1 0 0 BVES 11149 broad.mit.edu 37 6 105573340 105573340 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:105573340C>T uc003pqw.3 - 3 622 c.465G>A c.(463-465)ttG>ttA p.L155L BVES_uc003pqx.3_Silent_p.L155L|BVES_uc003pqy.3_Silent_p.L155L NM_147147 NP_671488 Q8NE79 POPD1_HUMAN Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA. 155 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) GGCCCTTTTTCAAGGTTTGGA 0.433000 45 56 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28407958 28407958 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:28407958G>A uc002het.3 + 16 3577 c.3385G>A c.(3385-3387)Gaa>Aaa p.E1129K EFCAB5_uc010cse.3_Missense_Mutation_p.E884K|EFCAB5_uc010csf.3_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA. 1129 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 AGATCCCCACGAAATAAACAT 0.403000 34 18 0 0 1 0 0 AHSP 51327 broad.mit.edu 37 16 31539946 31539946 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:31539946C>T uc002ecj.3 + 2 328 c.243C>T c.(241-243)ttC>ttT p.F81F NM_016633 NP_057717 Q9NZD4 AHSP_HUMAN Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA. 81 hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization hemoglobin complex hemoglobin binding|unfolded protein binding lung(2) 2 CCAACCCTTTCCTGGCCAAGT 0.587000 26 10 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072509 17072509 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:17072509C>T uc002zlp.1 - 0 1192 c.932G>A c.(931-933)gGc>gAc p.G311D NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA. 311 cellular protein metabolic process cytoplasm ATP binding|anion channel activity|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CACCACGATGCCATACTTGTC 0.552000 243 55 0 0 1 0 0 OR52A5 390054 broad.mit.edu 37 11 5153120 5153120 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:5153120G>A uc010qyx.2 - 0 753 c.753C>T c.(751-753)ttC>ttT p.F251F NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA. 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AGAACTGTAGGAAGACACAAA 0.418000 44 25 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24991147 24991147 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:24991147G>A uc002rfk.3 + 20 4472 c.4213G>A c.(4213-4215)Ggg>Agg p.G1405R NCOA1_uc010eye.3_3'UTR|NCOA1_uc002rfi.3_3'UTR|NCOA1_uc002rfj.3_3'UTR|NCOA1_uc002rfl.3_Missense_Mutation_p.G1404R|NCOA1_uc010eyf.3_3'UTR NM_003743 NP_003734 Q15788 NCOA1_HUMAN Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA. 1405 p.G1404G(1) PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTGGTAGGCGGGGACCCTTA 0.552000 T PAX3 alveolar rhadomyosarcoma 69 39 0 0 1 0 0 USP12 219333 broad.mit.edu 37 13 27690693 27690693 + Missense_Mutation SNP T G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:27690693T>G uc001uqy.3 - 1 346 c.89A>C c.(88-90)gAa>gCa p.E30A NM_182488 NP_872294 O75317 UBP12_HUMAN Homo sapiens ubiquitin specific peptidase 12 (USP12), mRNA. 30 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) CGGAAACTGTTCTGGACCAAT 0.358000 32 16 0 0 1 0 0 C14orf159 80017 broad.mit.edu 37 14 91647655 91647655 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:91647655C>T uc001xyw.2 + 7 1208 c.856C>T c.(856-858)Cct>Tct p.P286S C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Missense_Mutation_p.P286S|C14orf159_uc001xyz.2_Missense_Mutation_p.P157S|C14orf159_uc001xzb.2_Missense_Mutation_p.P281S|C14orf159_uc001xyx.2_Missense_Mutation_p.P269S|C14orf159_uc001xzc.2_Missense_Mutation_p.P281S|C14orf159_uc001xza.2_Missense_Mutation_p.P286S|C14orf159_uc001xyv.2_Missense_Mutation_p.P286S|C14orf159_uc001xze.2_Missense_Mutation_p.P281S NM_001102368 NP_001095838 Q7Z3D6 CN159_HUMAN Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA. 281 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TTCCCAAGATCCTCTGCACTA 0.498000 44 12 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168101260 168101260 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:168101260C>T uc002udx.3 + 8 3447 c.3358C>T c.(3358-3360)Cat>Tat p.H1120Y XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.H945Y|XIRP2_uc010fpq.3_Missense_Mutation_p.H898Y|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 945 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGAAGAAATTCATAAGGGAGA 0.378000 18 10 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181686434 181686434 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:181686434C>T uc009wxt.3 + 10 1716 c.1521C>T c.(1519-1521)ctC>ctT p.L507L CACNA1E_uc001gow.3_Silent_p.L507L|CACNA1E_uc009wxs.3_Silent_p.L507L NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 507 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCACCCACCTCCTCTGTAAGT 0.547000 45 16 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86808051 86808051 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:86808051G>A uc002blz.1 + 9 1591 c.1511G>A c.(1510-1512)cGa>cAa p.R504Q AGBL1_uc002bma.1_Missense_Mutation_p.R235Q|AGBL1_uc002bmb.1_Missense_Mutation_p.R198Q NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 504 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ATGTTGGAACGAAAATGTGGA 0.443000 35 14 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40434738 40434738 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:40434738G>A uc003gvc.2 - 5 2182 c.1472C>T c.(1471-1473)gCc>gTc p.A491V RBM47_uc003gvd.2_Missense_Mutation_p.A422V|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.A453V NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA. 491 Ala-rich. nucleus RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 ggctgcggcggcagcagcACT 0.587000 11 10 0 0 1 0 0 GC 2638 broad.mit.edu 37 4 72623842 72623842 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:72623842C>T uc010iif.3 - 7 900 c.805G>A c.(805-807)Gat>Aat p.D269N GC_uc003hge.3_Missense_Mutation_p.D250N|GC_uc021xpb.1_Missense_Mutation_p.D250N NM_001204307 NP_001191236 P02774 VTDB_HUMAN Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA. 250 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity p.A269A(1)|p.S268F(1) endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GGCAAAACATCCTCCAGATCA 0.378000 60 41 0 0 1 0 0 C12orf63 374467 broad.mit.edu 37 12 97045486 97045486 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:97045486C>T uc021rcc.1 + 2 346 c.268C>T c.(268-270)Cct>Tct p.P90S Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 90 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TAAAACATTTCCTATTAGCCA 0.383000 44 13 0 0 1 0 0 TCRBV20S1 0 broad.mit.edu 37 7 142032474 142032474 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142032474C>T uc011krs.1 + 1 327 c.294C>T c.(292-294)ttC>ttT p.F98F TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds. CTCTGAAGTTCCAGCGCACAC 0.557000 38 5 0 0 1 0 0 EIF2C4 192670 broad.mit.edu 37 1 36315815 36315815 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:36315815C>T uc001bzj.2 + 15 2423 c.2233C>T c.(2233-2235)Cca>Tca p.P745S NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA. 745 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol RNA binding|protein binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CATCACACATCCATCTGAGTT 0.388000 83 58 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25600813 25600813 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:25600813T>A uc011djw.2 + 32 3759 c.3391T>A c.(3391-3393)Tcc>Acc p.S1131T LRRC16A_uc010jpy.3_Missense_Mutation_p.S1131T NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA. 1131 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 AACACCTGACTCCTTTGAAGA 0.552000 41 12 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129518641 129518641 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:129518641C>T uc011muv.2 - 0 871 c.781G>A c.(781-783)Gaa>Aaa p.E261K NM_178471 NP_848566 Q8TDV5 GP119_HUMAN Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA. 261 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 AGGTACCGTTCCAGCACTAGG 0.572000 17 41 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27492429 27492429 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:27492429G>A uc002dov.2 - 26 4207 c.4167C>T c.(4165-4167)atC>atT p.I1389I GTF3C1_uc002dou.3_Silent_p.I1389I NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 1389 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GTGTGTCTGGGATTTCAAGGT 0.483000 56 31 0 0 1 0 0 FAM86B1 85002 broad.mit.edu 37 8 12042957 12042957 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:12042957G>A uc010lse.3 - 5 763 c.718C>T c.(718-720)Cgg>Tgg p.R240W LOC100506990_uc011kxp.1_Intron|FAM86B1_uc003wvf.4_Non-coding_Transcript|FAM86B1_uc010lsd.3_Non-coding_Transcript|FAM86B1_uc003wvh.4_Missense_Mutation_p.R83W|FAM86B1_uc003wvi.4_Missense_Mutation_p.R46W|FAM86B1_uc010lsf.3_Missense_Mutation_p.R83W|FAM86B1_uc010lsg.3_Non-coding_Transcript|FAM86B1_uc003wvl.4_Non-coding_Transcript|FAM86B1_uc011kxq.2_Missense_Mutation_p.R46W NM_001083537 NP_001077006 Q8N7N1 F86B1_HUMAN Homo sapiens family with sequence similarity 86, member B1 (FAM86B1), transcript variant 1, mRNA. 240 kidney(1)|prostate(1)|stomach(1) 3 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.0965) TCAGGAGCCCGCTTGTGCTCC 0.632000 41 9 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371229 240371229 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:240371229G>A uc010pye.2 + 5 3354 c.3129G>A c.(3127-3129)gcG>gcA p.A1043A FMN2_uc010pyd.2_Silent_p.A1039A NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 1039 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTCCCGGAGCGGGCATACCCC 0.731000 70 6 0 0 1 0 0 HMGN3 9324 broad.mit.edu 37 6 79912032 79912032 + Silent SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:79912032A>G uc021zbz.1 - 4 400 c.222T>C c.(220-222)ggT>ggC p.G74G HMGN3_uc003pit.3_Silent_p.G74G|HMGN3_uc003pis.3_Splice_Site_p.G74_splice|HMGN3_uc003piu.2_Silent_p.G74G NM_001201363 NP_001188292 Q15651 HMGN3_HUMAN Homo sapiens high mobility group nucleosomal binding domain 3 (HMGN3), transcript variant 4, mRNA. 74 chromatin modification chromatin|cytoplasm|nucleus DNA binding|thyroid hormone receptor binding central_nervous_system(1)|kidney(2)|lung(1) 4 all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393) BRCA - Breast invasive adenocarcinoma(397;0.125) ATGGTGCAGTACCTTCCTTTC 0.413000 39 54 0 0 1 0 0 C1QTNF5 114902 broad.mit.edu 37 11 119213613 119213613 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:119213613C>T uc010rzg.1 - 7 1159 c.999G>A c.(997-999)caG>caA p.Q333Q C1QTNF5_uc001pwj.2_5'UTR Q9BY79 MFRP_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA. 484 CUB 2. embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) AGGTAGGTGGCTGAGAAGCCT 0.622000 15 9 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147128162 147128162 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:147128162C>T uc003ewe.3 + 0 982 c.263C>T c.(262-264)tCc>tTc p.S88F NM_003412 NP_003403 Q15915 ZIC1_HUMAN Homo sapiens Zic family member 1 (ZIC1), mRNA. 88 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CACGTCGGCTCCTATTCCAGC 0.692000 8 5 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93073020 93073020 + Missense_Mutation SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:93073020T>C uc003umv.2 - 10 1100 c.800A>G c.(799-801)aAc>aGc p.N267S CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.N233S|CALCR_uc003umw.2_Missense_Mutation_p.N233S NM_001164737 NP_001158209 P30988 CALCR_HUMAN Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA. 249 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) CCAGAAATAGTTGCAGGCCAT 0.443000 49 35 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38627422 38627422 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:38627422G>A uc021wvo.1 - 14 2599 c.2547C>T c.(2545-2547)atC>atT p.I849I SCN5A_uc021wvk.1_Silent_p.I849I|SCN5A_uc021wvl.1_Silent_p.I849I|SCN5A_uc021wvm.1_Silent_p.I849I|SCN5A_uc021wvn.1_Silent_p.I849I|SCN5A_uc021wvp.1_Silent_p.I849I|SCN5A_uc021wvq.1_Silent_p.I849I|SCN5A_uc021wvr.1_Silent_p.I849I|SCN5A_uc021wvs.1_Silent_p.I849I|SCN5A_uc021wvt.1_Silent_p.I849I|SCN5A_uc021wvu.1_Silent_p.I849I|SCN5A_uc021wvv.1_Silent_p.I849I|SCN5A_uc021wvj.1_Silent_p.I715I|SCN5A_uc021wvi.1_Silent_p.I715I|SCN5A_uc021wvw.1_Silent_p.I460I NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 849 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) AGATGAACACGATGATGGCTA 0.567000 61 35 0 0 1 0 0 TCR-_alpha_V_33.1 0 broad.mit.edu 37 14 22783200 22783200 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:22783200T>A uc001wdq.2 + 1 203 c.196T>A c.(196-198)Tac>Aac p.Y66N 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 Homo sapiens mRNA for T cell receptor alpha variable 40, partial cds, clone: un 107. GTATGTGGAATACCCCAGCAA 0.478000 47 29 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651266 96651266 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:96651266C>T uc003pop.4 + 2 576 c.235C>T c.(235-237)Ctt>Ttt p.L79F FUT9_uc021zcw.1_Missense_Mutation_p.L79F NM_006581 NP_006572 Q9Y231 FUT9_HUMAN Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA. 79 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GACCTTTGACCTTACATCCTG 0.433000 23 30 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106821067 106821067 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:106821067C>T uc001tlp.3 + 12 1416 c.1194C>T c.(1192-1194)gcC>gcT p.A398A POLR3B_uc001tlq.3_Silent_p.A340A NM_018082 NP_001154180 Q9NW08 RPC2_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA. 398 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 AAAGAGCAGCCCAGTTTGATG 0.373000 57 35 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756232 94756232 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:94756232C>T uc001yct.3 - 1 1165 c.699G>A c.(697-699)gtG>gtA p.V233V SERPINA10_uc001ycu.4_Silent_p.V233V NM_016186 NP_057270 Q9UK55 ZPI_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA. 233 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) AGATGTAATCCACAAGAATTA 0.413000 45 17 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 24988464 24988464 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:24988464G>A uc002wub.3 - 13 2084 c.2004C>T c.(2002-2004)ccC>ccT p.P668P ACSS1_uc002wuc.3_Silent_p.P666P|ACSS1_uc021wbm.1_Intron|ACSS1_uc010gdc.3_Silent_p.P463P|ACSS1_uc002wua.3_Silent_p.P585P|ACSS1_uc021wbl.1_Silent_p.P547P|ACSS1_uc002wud.1_Non-coding_Transcript NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 668 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix AMP binding|ATP binding|acetate-CoA ligase activity|protein binding p.D667D(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CGATGATGCTGGGGTCCTCCA 0.582000 74 43 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004713 248004713 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:248004713C>T uc001idn.1 - 0 486 c.486G>A c.(484-486)atG>atA p.M162I NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA. 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M162I(2)|p.L161P(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) ACCTGGAAATCATCAGGGAAG 0.557000 73 37 0 0 1 0 0 RPP30 10556 broad.mit.edu 37 10 92654570 92654570 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:92654570C>T uc001khd.2 + 6 741 c.471C>T c.(469-471)agC>agT p.S157S RPP30_uc010qnj.2_Silent_p.S157S|RPP30_uc009xtx.3_Silent_p.S157S NM_001104546 NP_001098016 P78346 RPP30_HUMAN Homo sapiens ribonuclease P/MRP 30kDa subunit (RPP30), transcript variant 1, mRNA. 157 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 8 TTGTCTATAGCCCTGCTATCA 0.413000 76 36 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792528 143792528 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:143792528G>A uc011kty.2 + 0 328 c.328G>A c.(328-330)Gag>Aag p.E110K NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA. 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) TGCTATTACAGAGTGTCTGAT 0.423000 133 30 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38141900 38141900 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:38141900G>A uc003chp.1 + 18 2869 c.2848G>A c.(2848-2850)Gaa>Aaa p.E950K DLEC1_uc003cho.1_Missense_Mutation_p.E950K|DLEC1_uc010hgv.1_Missense_Mutation_p.E950K|DLEC1_uc003chr.1_Missense_Mutation_p.E56K|DLEC1_uc010hgx.1_Non-coding_Transcript NM_007337 NP_031363 Q9Y238 DLEC1_HUMAN Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA. 950 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GCTGGAGGTGGAAAATGGTGC 0.502000 56 24 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46066470 46066470 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:46066470C>T uc003gxb.3 - 4 765 c.613G>A c.(613-615)Gaa>Aaa p.E205K NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 205 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CTTGAAAATTCCAGTGGACAG 0.274000 68 37 0 0 1 0 0 PDP2 57546 broad.mit.edu 37 16 66918732 66918732 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:66918732C>T uc021tjw.1 + 0 545 c.545C>T c.(544-546)cCc>cTc p.P182L PDP2_uc002eqk.2_Missense_Mutation_p.P182L NM_020786 NP_065837 Q9P2J9 PDP2_HUMAN Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA. 182 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) AGCATGAAACCCTTGCTGCCC 0.547000 31 20 0 0 1 0 0 KRT32 3882 broad.mit.edu 37 17 39623286 39623286 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:39623286C>T uc002hwr.3 - 0 353 c.292G>A c.(292-294)Gaa>Aaa p.E98K NM_002278 NP_002269 Q14532 K1H2_HUMAN Homo sapiens keratin 32 (KRT32), mRNA. 98 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) TGCATGGTTTCCTTCTCATTG 0.607000 64 39 0 0 1 0 0 MSRB1 51734 broad.mit.edu 37 16 1991306 1991306 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:1991306G>A uc021tam.1 - 1 293 c.156C>T c.(154-156)gcC>gcT p.A52A TCRBV20S1_uc021tak.1_Intron NM_016332 NP_057416 Q9NZV6 MSRB1_HUMAN Homo sapiens selenoprotein X, 1 (SEPX1), mRNA. 52 protein repair cytoplasm|nucleus peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding L-Methionine(DB00134) CCACGCTGTCGGCGTGAATGG 0.622000 30 26 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58619371 58619371 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:58619371A>G uc002env.3 - 7 970 c.677T>C c.(676-678)cTt>cCt p.L226P CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.L226P|CNOT1_uc002enx.3_Missense_Mutation_p.L226P|CNOT1_uc002enz.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA. 226 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AGGGTATAAAAGTGGTGCGAG 0.443000 26 17 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124914223 124914223 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:124914223G>A uc021rga.1 - 9 1202 c.1085C>T c.(1084-1086)tCc>tTc p.S362F NCOR2_uc021rgb.1_Missense_Mutation_p.S362F|NCOR2_uc010tbb.2_Missense_Mutation_p.S362F|NCOR2_uc010tbc.2_Missense_Mutation_p.S361F|NCOR2_uc021rgc.1_Missense_Mutation_p.S361F|NCOR2_uc010tba.2_Missense_Mutation_p.S362F|NCOR2_uc001ugj.1_Missense_Mutation_p.S362F|NCOR2_uc001ugk.1_Missense_Mutation_p.S362F NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 362 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGCCGACATGGACAGCCCACT 0.662000 12 4 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42711356 42711356 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:42711356G>A uc021xxv.1 + 6 824 c.687G>A c.(685-687)gtG>gtA p.V229V GHR_uc003jmt.3_Silent_p.V222V|GHR_uc003jmu.3_Silent_p.V222V|GHR_uc003jmv.2_Silent_p.V222V|GHR_uc021xxw.1_Silent_p.V222V|GHR_uc021xxx.1_Silent_p.V222V|GHR_uc021xxy.1_Silent_p.V222V|GHR_uc021xxz.1_Silent_p.V222V|GHR_uc021xya.1_Silent_p.V222V|GHR_uc021xyb.1_Silent_p.V222V|GHR_uc021xyc.1_Silent_p.V222V|GHR_uc011cpq.2_Silent_p.V35V|GHR_uc021xyd.1_Silent_p.V200V NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 222 Fibronectin type-III. R -> G (in LARS).|R -> H (found in a patient with idiopathic short stature; unknown pathological significance; dbSNP:rs6177). 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding p.V222V(1) NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CATTGAAAGTGGATAAGGAAT 0.408000 82 50 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169081470 169081470 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:169081470G>A uc003maf.3 + 1 187 c.107G>A c.(106-108)cGa>cAa p.R36Q DOCK2_uc011der.2_Non-coding_Transcript NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 36 SH3. 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 p.R36Q(2) 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) GATGTGGTGCGAATACAGGAG 0.582000 36 19 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73151674 73151674 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:73151674G>A uc004aid.3 - 24 4563 c.4319C>T c.(4318-4320)cCt>cTt p.P1440L TRPM3_uc004ahu.3_Missense_Mutation_p.P1282L|TRPM3_uc004ahv.3_Missense_Mutation_p.P1242L|TRPM3_uc004ahw.3_Missense_Mutation_p.P1312L|TRPM3_uc004ahx.3_Missense_Mutation_p.P1299L|TRPM3_uc004ahy.3_Missense_Mutation_p.P1302L|TRPM3_uc004ahz.3_Missense_Mutation_p.P1289L|TRPM3_uc004aia.3_Missense_Mutation_p.P1287L|TRPM3_uc004aib.3_Missense_Mutation_p.P1277L|TRPM3_uc004aic.3_Intron NM_001007471 NP_066003 Q9HCF6 TRPM3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA. 1465 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 ACTACTTGAAGGGGCTGTGGA 0.502000 53 27 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21147717 21147718 + Silent DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:21147717_21147718GG>AA uc010vbe.2 - 5 813_814 c.813_814CC>TT c.(811-816)ttcctg>ttTTtg p.271_272FL>FL DNAH3_uc002die.2_Silent_p.242_243FL>FL NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 271 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGGGGCTCCAGGAAGGGACTCG 0.515000 84 38 0 0 1 0 0 DBN1 1627 broad.mit.edu 37 5 176885177 176885177 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:176885177G>A uc003mgx.2 - 12 1946 c.1664C>T c.(1663-1665)tCc>tTc p.S555F DBN1_uc011dga.1_Missense_Mutation_p.S285F|DBN1_uc003mgy.2_Missense_Mutation_p.S553F|DBN1_uc010jkn.1_Missense_Mutation_p.S503F|DBN1_uc003mgz.1_Missense_Mutation_p.S536F NM_080881 NP_543157 Q16643 DREB_HUMAN Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA. 553 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2) 25 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCAGCCAGGGACTCCCCTTC 0.642000 29 22 0 0 1 0 0 HSPA4L 22824 broad.mit.edu 37 4 128732767 128732767 + Silent SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:128732767T>C uc003ifm.3 + 11 1807 c.1554T>C c.(1552-1554)ttT>ttC p.F518F HSPA4L_uc010iny.1_Silent_p.F477F|HSPA4L_uc011cgr.2_Silent_p.F485F NM_014278 NP_055093 O95757 HS74L_HUMAN Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA. 518 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 AAACTTCATTTAAAAATGAAA 0.338000 21 12 0 0 1 0 0 ZNF793 390927 broad.mit.edu 37 19 38028704 38028704 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:38028704C>T uc010efm.3 + 7 1586 c.1144C>T c.(1144-1146)Ctc>Ttc p.L382F ZNF793_uc010xts.2_Missense_Mutation_p.L382F NM_001013659 NP_001013681 Q6ZN11 ZN793_HUMAN Homo sapiens zinc finger protein 793 (ZNF793), mRNA. 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAAGCCAAACCTCAGCAGACA 0.418000 22 6 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53573162 53573162 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:53573162G>A uc003xre.4 - 11 2241 c.1683C>T c.(1681-1683)tcC>tcT p.S561S RB1CC1_uc003xrf.4_Silent_p.S561S NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA. 561 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) ATACACAAAAGGAAGGGGGCC 0.318000 51 13 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56329471 56329471 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:56329471G>A uc010ygf.2 - 3 781 c.70C>T c.(70-72)Cag>Tag p.Q24* NLRP11_uc002qmb.3_Intron|NLRP11_uc002qmc.3_Intron|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 24 DAPIN. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TTAAAACTCTGAAATTCCTTG 0.438000 31 18 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41000860 41000860 + Missense_Mutation SNP T G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:41000860T>G uc003jmj.4 - 37 4760 c.4270A>C c.(4270-4272)Att>Ctt p.I1424L HEATR7B2_uc003jmi.4_Missense_Mutation_p.I979L NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1424 I -> T (in Ref. 1; CAH18199 and 5; AAP97306). binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 GCAAAAAAAATCTTCCACCTT 0.458000 5 3 0 0 1 0 0 C1orf116 79098 broad.mit.edu 37 1 207195977 207195977 + Missense_Mutation SNP C T T rs149585923 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:207195977C>T uc001hfd.2 - 3 1391 c.1132G>A c.(1132-1134)Gag>Aag p.E378K C1orf116_uc009xcb.1_Missense_Mutation_p.E132K|C1orf116_uc021pii.1_Missense_Mutation_p.E132K NM_023938 NP_001077393 Q9BW04 SARG_HUMAN Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA. 378 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) GCCCGTGTCTCCTTGGGTCTG 0.592000 50 22 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555383 155555383 + Missense_Mutation SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:155555383C>A uc002tyv.1 + 0 291 c.96C>A c.(94-96)gaC>gaA p.D32E KCNJ3_uc010zce.1_Missense_Mutation_p.D32E|KCNJ3_uc021vrh.1_Missense_Mutation_p.D32E NM_002239 NP_002230 P48549 IRK3_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA. 32 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.Q31L(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CAGGCCAGGACCCTCAGCAGC 0.602000 35 7 8.12818e-05 8.15583e-05 1 1 0 EMB 133418 broad.mit.edu 37 5 49699150 49699150 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:49699150C>T uc003jom.3 - 5 988 c.739G>A c.(739-741)Gaa>Aaa p.E247K EMB_uc010ivq.3_Missense_Mutation_p.E41K|EMB_uc003jol.3_Missense_Mutation_p.E178K|EMB_uc011cpy.2_Missense_Mutation_p.E197K NM_198449 NP_940851 Q6PCB8 EMB_HUMAN Homo sapiens embigin (EMB), mRNA. 247 Ig-like V-type 2. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) ATGTGTTCTTCACTCTCGCCT 0.443000 55 22 0 0 1 0 0 SAMD13 148418 broad.mit.edu 37 1 84768944 84768944 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:84768944G>A uc001djr.3 + 1 261 c.69G>A c.(67-69)aaG>aaA p.K23K SAMD13_uc010orw.2_Silent_p.K9K|SAMD13_uc010orx.2_Silent_p.K9K NM_001010971 NP_001128136 Q5VXD3 SAM13_HUMAN Homo sapiens sterile alpha motif domain containing 13 (SAMD13), transcript variant 1, mRNA. 29 lung(4) 4 all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136) TGGAAAACAAGGAAAATGGCT 0.398000 16 10 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39288904 39288904 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:39288904C>T uc003jlv.4 - 9 1655 c.1566G>A c.(1564-1566)atG>atA p.M522I NM_001737 NP_001728 P02748 CO9_HUMAN Homo sapiens complement component 9 (C9), mRNA. 522 EGF-like. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) ACTTTCCATCCATTAGAATCA 0.353000 75 45 0 0 1 0 0 PARP16 54956 broad.mit.edu 37 15 65551759 65551759 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:65551759G>A uc002aoq.3 - 5 1212 c.958C>T c.(958-960)Cgt>Tgt p.R320C PARP16_uc002aoo.3_Missense_Mutation_p.R319C|PARP16_uc002aop.3_Missense_Mutation_p.R204C NM_017851 NP_060321 Q8N5Y8 PAR16_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA. 319 integral to membrane NAD+ ADP-ribosyltransferase activity kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 CTTTTCGCACGATTCCAAAAG 0.478000 130 63 0 0 1 0 0 OR6C4 341418 broad.mit.edu 37 12 55945843 55945843 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:55945843C>T uc010spp.2 + 0 833 c.833C>T c.(832-834)tCg>tTg p.S278L NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA. 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 CTCATTACTTCGGTTACTCCC 0.368000 33 27 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28671063 28671063 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:28671063C>T uc002kwl.4 - 3 856 c.402G>A c.(400-402)aaG>aaA p.K134K DSC2_uc002kwk.4_Silent_p.K134K NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 134 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CCCATCTTCTCTTGGCGCGCC 0.388000 16 24 0 0 1 0 0 C17orf49 124944 broad.mit.edu 37 17 6920628 6920628 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:6920628C>T uc002ged.3 + 5 1280 c.567C>T c.(565-567)ctC>ctT p.L189L C17orf49_uc002gec.3_3'UTR|C17orf49_uc010vti.2_3'UTR|MIR497HG_uc021tox.1_Non-coding_Transcript NM_001142798 NP_001136270 Q8IXM2 BAP18_HUMAN Homo sapiens chromosome 17 open reading frame 49 (C17orf49), transcript variant 1, mRNA. 0 chromatin modification MLL1 complex|NURF complex DNA binding kidney(1)|large_intestine(2)|ovary(1) 4 ATCCTCCTCTCCTCTCCTGCT 0.587000 68 27 0 0 1 0 0 GABRR1 2569 broad.mit.edu 37 6 89888625 89888625 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:89888625G>A uc003pna.2 - 9 1759 c.1304C>T c.(1303-1305)tCc>tTc p.S435F GABRR1_uc011dzv.1_Missense_Mutation_p.S412F NM_002042 NP_002033 P24046 GBRR1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA. 435 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) CCTCTGTGGGGAGCTCCTCTC 0.512000 34 49 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17444633 17444633 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:17444633C>T uc002zlw.3 - 8 1671 c.1563G>A c.(1561-1563)ctG>ctA p.L521L NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA. 521 p.L521M(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) GCTGGAAGTCCAGGGCCGCGT 0.657000 34 5 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177143536 177143536 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:177143536G>A uc003iuq.2 - 2 426 c.312C>T c.(310-312)gtC>gtT p.V104V ASB5_uc003iup.2_Silent_p.V51V NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA. 104 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) GCAATGGGGTGACATGGTCTA 0.388000 52 38 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24231681 24231681 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:24231681G>A uc003ccz.4 - 5 687 c.167C>T c.(166-168)cCa>cTa p.P56L THRB_uc010hfe.3_Missense_Mutation_p.P56L|THRB_uc003ccy.4_Missense_Mutation_p.P56L|THRB_uc003ccx.4_Missense_Mutation_p.P56L|THRB_uc003cdc.3_Missense_Mutation_p.P51L|THRB_uc003cdd.3_Missense_Mutation_p.P51L|THRB_uc003cde.1_Missense_Mutation_p.P51L|THRB_uc021wuc.1_Missense_Mutation_p.P51L NM_001252634 NP_001239563 P10828 THB_HUMAN Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA. 56 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) GATGAGATGTGGCGACGACTG 0.502000 58 30 0 0 1 0 0 CCDC59 29080 broad.mit.edu 37 12 82750862 82750862 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:82750862G>A uc001szp.4 - 1 385 c.341C>T c.(340-342)cCt>cTt p.P114L C12orf26_uc001szq.3_5'Flank|CCDC59_uc021rbm.1_Non-coding_Transcript NM_014167 NP_054886 Q9P031 TAP26_HUMAN Homo sapiens coiled-coil domain containing 59 (CCDC59), transcript variant 1, mRNA. 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2) 5 TTCTGACAAAGGATGGTCGAC 0.428000 88 44 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75704305 75704305 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:75704305G>A uc010oqz.1 - 8 732 c.666C>T c.(664-666)ttC>ttT p.F222F SLC44A5_uc001dgt.2_Silent_p.F183F|SLC44A5_uc001dgs.2_Silent_p.F141F|SLC44A5_uc001dgr.2_Silent_p.F141F|SLC44A5_uc001dgu.3_Silent_p.F183F|SLC44A5_uc010ora.2_Silent_p.F177F|SLC44A5_uc010orb.2_Silent_p.F53F NM_001130058 NP_001123530 Q8NCS7 CTL5_HUMAN Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA. 183 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 AGAAGTCAGGGAAACATCTCT 0.333000 37 13 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93650053 93650053 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:93650053C>T uc004aqz.3 + 11 1809 c.1604C>T c.(1603-1605)cCt>cTt p.P535L SYK_uc004ara.3_Missense_Mutation_p.P512L|SYK_uc004arb.3_Missense_Mutation_p.P512L|SYK_uc004arc.3_Missense_Mutation_p.P535L|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript NM_003177 NP_003168 P43405 KSYK_HUMAN Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA. 535 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly T cell receptor complex|cytosol ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 GGAAAGTGGCCTGTCAAGTGG 0.478000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 42 55 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860627 16860627 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:16860627C>T uc002neu.4 + 5 1596 c.1174C>T c.(1174-1176)Cag>Tag p.Q392* NWD1_uc002net.4_Nonsense_Mutation_p.Q257*|NWD1_uc002nev.4_Nonsense_Mutation_p.Q186*|NWD1_uc021uqg.1_Nonsense_Mutation_p.Q257* NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 392 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CATCTGCTTCCAGGTGTGCCT 0.627000 27 10 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40853703 40853703 + Missense_Mutation SNP T G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:40853703T>G uc002law.3 - 1 1060 c.691A>C c.(691-693)Acc>Ccc p.T231P SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.T213P NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN Homo sapiens synaptotagmin IV (SYT4), mRNA. 231 C2 1.|Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 TGGATTTGGGTGTAGGGTATC 0.408000 78 21 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170151151 170151151 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:170151151C>T uc002ues.3 - 4 710 c.497G>A c.(496-498)tGg>tAg p.W166* LRP2_uc010zdf.1_Nonsense_Mutation_p.W166* NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 166 LDL-receptor class A 4. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATCAACTTTCCAATCACACTT 0.393000 40 22 0 0 1 0 0 GPR114 221188 broad.mit.edu 37 16 57597819 57597819 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:57597819G>A uc002ely.3 + 4 880 c.357G>A c.(355-357)cgG>cgA p.R119R GPR114_uc002elx.4_Silent_p.R119R|GPR114_uc010vhr.2_Silent_p.R119R NM_153837 NP_722579 Q8IZF4 GP114_HUMAN Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA. 119 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 AGCTGACCCGGGACGCCTGCA 0.627000 32 27 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40251489 40251489 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:40251489G>A uc003cka.3 + 10 1945 c.1810G>A c.(1810-1812)Gat>Aat p.D604N MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.D604N|MYRIP_uc010hhw.3_Missense_Mutation_p.D515N|MYRIP_uc011ayz.2_Missense_Mutation_p.D417N|FLJ33065_uc003ckb.3_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA. 604 Actin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) TTCAGGGGAGGATCAGGAGTC 0.493000 29 12 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12904243 12904243 + Silent SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:12904243T>C uc004cvc.3 + 2 755 c.616T>C c.(616-618)Tta>Cta p.L206L NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN Homo sapiens toll-like receptor 7 (TLR7), mRNA. 206 I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) CTTGACAAAGTTAAAAGTGCT 0.358000 10 18 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33591399 33591399 + Missense_Mutation SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:33591399C>A uc002hjf.4 + 3 1453 c.1336C>A c.(1336-1338)Cag>Aag p.Q446K SLFN5_uc010wcg.2_Intron NM_144975 NP_659412 Q08AF3 SLFN5_HUMAN Homo sapiens schlafen family member 5 (SLFN5), mRNA. 446 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) TCTAATTTCCCAGAACAACAC 0.453000 46 22 2.4375e-19 2.47465e-19 1 1 0 GPR111 222611 broad.mit.edu 37 6 47646828 47646828 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:47646828C>T uc010jzj.1 + 3 430 c.429C>T c.(427-429)atC>atT p.I143I GPR111_uc003oyy.3_Silent_p.I75I NM_153839 NP_722581 Q8IZF7 GP111_HUMAN Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA. 143 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GGCACAAGATCACTGACACCT 0.443000 42 57 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43154182 43154182 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:43154182C>T uc003ouk.3 + 3 1315 c.1240C>T c.(1240-1242)Ccc>Tcc p.P414S CUL9_uc003ouj.1_Missense_Mutation_p.P414S|CUL9_uc003oul.3_Missense_Mutation_p.P414S|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 414 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CAACGGCATTCCCCCTGTGCA 0.587000 87 23 0 0 1 0 0 APLNR 187 broad.mit.edu 37 11 57003606 57003606 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:57003606G>A uc001njo.3 - 0 1322 c.873C>T c.(871-873)ttC>ttT p.F291F APLNR_uc001njn.4_Non-coding_Transcript NM_005161 NP_005152 P35414 APJ_HUMAN Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA. 291 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TGCAGTAGGGGAAGATGTTCA 0.587000 18 16 0 0 1 0 0 LRMP 4033 broad.mit.edu 37 12 25254170 25254170 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:25254170G>A uc001rgh.3 + 14 1894 c.800G>A c.(799-801)aGg>aAg p.R267K LRMP_uc010sja.2_Missense_Mutation_p.R267K|LRMP_uc010sjc.2_Missense_Mutation_p.R267K|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.R214K|LRMP_uc010sjd.2_Missense_Mutation_p.R214K NM_006152 NP_006143 Q12912 LRMP_HUMAN Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA. 323 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) AACTTGAAGAGGATGTATGCC 0.378000 42 30 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16377026 16377026 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:16377026C>T uc001axx.4 + 10 1120 c.984C>T c.(982-984)tcC>tcT p.S328S CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Silent_p.S159S|CLCNKA_uc001axy.4_Silent_p.S159S NM_000085 NP_000076 P51800 CLCKA_HUMAN Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA. 328 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) CTGTGTACTCCGCTCTGGCCA 0.647000 91 42 0 0 1 0 0 GNL3 26354 broad.mit.edu 37 3 52721287 52721287 + Missense_Mutation SNP G T T rs147047392 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:52721287G>T uc003dfd.3 + 2 271 c.98G>T c.(97-99)aGa>aTa p.R33I PBRM1_uc003dey.2_5'Flank|GNL3_uc011beh.1_Non-coding_Transcript|GNL3_uc003dfe.3_Missense_Mutation_p.R21I|GNL3_uc003dff.3_Missense_Mutation_p.R21I|SNORD19_uc003dfg.1_5'Flank NM_014366 NP_996562 Q9BVP2 GNL3_HUMAN Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar) (GNL3), transcript variant 1, mRNA. 33 Basic (By similarity). regulation of cell proliferation nucleolus GTP binding|protein binding breast(4)|endometrium(3)|large_intestine(3)|lung(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) CGAAAATTAAGAAAGGAGGCT 0.388000 13 11 4.68919e-08 4.7235e-08 1 1 0 F10 2159 broad.mit.edu 37 13 113803231 113803231 + Splice_Site SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:113803231G>A uc001vsx.3 + 8 923 c.866_splice c.e8-1 p.G289_splice F10_uc001vsy.3_Splice_Site_p.G286_splice NM_000504 NP_000495 P00742 FA10_HUMAN Homo sapiens coagulation factor X (F10), mRNA. 289 Peptidase S1. G -> R (in FA10D; may affect splicing). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|extracellular region calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGTCCCAGGGGACCGGAACA 0.517000 107 79 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077817 19077817 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:19077817G>A uc001mph.3 - 1 221 c.133C>T c.(133-135)Ctg>Ttg p.L45L MRGPRX2_uc021qer.1_Silent_p.L45L NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA. 45 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 TTTCCTACCAGCCCGACCAGG 0.567000 63 54 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6043355 6043355 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:6043355G>A uc003spl.3 - 3 406 c.319C>T c.(319-321)Cgg>Tgg p.R107W PMS2_uc003spj.3_Intron|PMS2_uc003spk.3_5'UTR|PMS2_uc011jwl.2_5'UTR|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.R107W|PMS2_uc010ktf.2_Missense_Mutation_p.R107W NM_000535 NP_000526 P54278 PMS2_HUMAN Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA. 107 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) GCTTCCCCCCGAAAGCCAAAA 0.403000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 32 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179602908 179602908 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179602908C>T uc021vsy.1 - 45 10765 c.10540G>A c.(10540-10542)Gaa>Aaa p.E3514K TTN_uc021vsz.1_Missense_Mutation_p.E4587K|TTN_uc021vta.1_Missense_Mutation_p.E4520K|TTN_uc021vtb.1_Missense_Mutation_p.E4395K|TTN_uc002umz.1_Missense_Mutation_p.E175K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4441 Ig-like 21. 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) CTCAGGATTTCAAGGCTGGAG 0.468000 18 19 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143603417 143603417 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:143603417C>T uc003ywm.3 + 19 3299 c.3116C>T c.(3115-3117)gCg>gTg p.A1039V NM_001702 NP_001693 O14514 BAI1_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA. 1039 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TCCTACATGGCGGTGACGGGC 0.662000 26 7 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55321881 55321881 + Missense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55321881C>G uc010rig.2 + 0 99 c.99C>G c.(97-99)ttC>ttG p.F33L NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA. 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 AGCAAATTTTCCTTTGTCCTA 0.368000 HNSCC(20;0.049) 80 31 0 0 1 0 0 CAMKV 79012 broad.mit.edu 37 3 49896855 49896855 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:49896855C>T uc003cxt.1 - 10 1595 c.1402G>A c.(1402-1404)Gac>Aac p.D468N TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.2_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.D393N|CAMKV_uc003cxv.1_Missense_Mutation_p.D440N|CAMKV_uc003cxw.1_Missense_Mutation_p.D300N|CAMKV_uc003cxx.1_Missense_Mutation_p.D300N|CAMKV_uc003cxu.2_Missense_Mutation_p.D437N|CAMKV_uc011bcz.1_Missense_Mutation_p.D400N|CAMKV_uc011bda.1_Missense_Mutation_p.D394N NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA. 468 Ala-rich. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCTGTGCTGTCCGGCTGGGCC 0.647000 37 25 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140729876 140729876 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140729876C>T uc003ljo.2 + 0 49 c.49C>T c.(49-51)Ccc>Tcc p.P17S PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.P17S NM_018922 NP_061745 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA. 0 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) GGTACTGTTTCCCTTCCTGCT 0.512000 OREG0016856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 6 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047352 9047352 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9047352C>T uc002mkp.3 - 4 34483 c.34279G>A c.(34279-34281)Ggt>Agt p.G11427S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11429 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 TCTGGCTCACCAGAAGAAAGA 0.458000 61 26 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38798304 38798304 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:38798304C>T uc003ciq.3 - 8 1151 c.1151G>A c.(1150-1152)gGa>gAa p.G384E NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 384 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GTAGAAAGATCCCAGGAAGAT 0.453000 72 40 0 0 1 0 0 LOC645166 645166 broad.mit.edu 37 1 148932823 148932823 + RNA SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:148932823C>T uc010pbc.1 + 1 c.138C>T LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA. CGCCAGGCCTCCATAGAGCTG 0.597000 163 13 0 0 1 0 0 ACAP3 116983 broad.mit.edu 37 1 1231121 1231121 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:1231121G>A uc001aeb.2 - 17 1774 c.1700C>T c.(1699-1701)tCc>tTc p.S567F ACAP3_uc001ady.2_Missense_Mutation_p.S297F|ACAP3_uc001aea.2_Missense_Mutation_p.S525F NM_030649 NP_085152 Q96P50 ACAP3_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA. 567 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 CCCACCTGAGGACAGAGCGGC 0.716000 8 6 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100345948 100345948 + Splice_Site SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:100345948G>A uc003uwj.3 + 11 1268 c.1103_splice c.e11-1 p.E368_splice ZAN_uc003uwk.3_Splice_Site_p.E368_splice|ZAN_uc003uwl.3_Splice_Site|ZAN_uc010lhh.3_Splice_Site|ZAN_uc010lhi.3_Splice_Site NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 368 MAM 2. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ATCCCCCAGAGGGTTTTCCTC 0.567000 46 23 0 0 1 0 0 INTS5 80789 broad.mit.edu 37 11 62415655 62415655 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:62415655G>A uc001nud.3 - 1 1950 c.1897C>T c.(1897-1899)Ccc>Tcc p.P633S GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN Homo sapiens integrator complex subunit 5 (INTS5), mRNA. 633 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 GAAGGAAAGGGACAAATGGCC 0.597000 25 11 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37419171 37419171 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:37419171G>A uc021ppc.1 + 2 306 c.207G>A c.(205-207)ctG>ctA p.L69L ANKRD30A_uc001iza.1_Silent_p.L69L NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 125 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CAAATATTCTGATAGATTCTG 0.348000 53 23 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107457492 107457492 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:107457492G>A uc011lvs.2 + 0 790 c.790G>A c.(790-792)Gag>Aag p.E264K NM_001004484 NP_001004484 Q8NGV5 O13D1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA. 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 TAATTGTGCTGAGGGAAGAAA 0.388000 21 34 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140165878 140165879 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140165878_140165879GG>AA uc003lhb.2 + 0 3_4 c.3_4GG>AA c.(1-6)atggtg>atAAtg p.1_2MV>IM PCDHAC2_uc003lha.2_Missense_Mutation_p.1_2MV>IM|PCDHAC2_uc003lgz.3_Missense_Mutation_p.1_2MV>IM NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 0 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) CTTTTGCAATGGTGTTTTCTAG 0.485000 91 37 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37164402 37164402 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:37164402G>A uc011cpa.1 - 36 7792 c.7561C>T c.(7561-7563)Cct>Tct p.P2521S C5orf42_uc011coy.1_Missense_Mutation_p.P1021S|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P1596S NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 2521 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TCATCCAAAGGATGGGAACCA 0.294000 32 18 0 0 1 0 0 OR8U8 504189 broad.mit.edu 37 11 56143515 56143515 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:56143515G>A uc001nit.2 + 0 416 c.416G>A c.(415-417)gGa>gAa p.G139E NM_001013356 NP_001013374 P0C7N1 OR8U8_HUMAN Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA. 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ATGACTCCAGGAATCTGCATT 0.443000 54 17 0 0 1 0 0 CNOT2 4848 broad.mit.edu 37 12 70735934 70735934 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:70735934G>A uc001svv.3 + 11 1808 c.1226G>A c.(1225-1227)cGa>cAa p.R409Q CNOT2_uc009zro.3_Missense_Mutation_p.R409Q|CNOT2_uc009zrp.3_Missense_Mutation_p.R389Q|CNOT2_uc009zrq.3_Missense_Mutation_p.R409Q|CNOT2_uc001svw.1_Missense_Mutation_p.R149Q NM_014515 NP_055330 Q9NZN8 CNOT2_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA. 409 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus RNA polymerase II transcription cofactor activity|protein binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) TCACCTTGTCGACCTCAAGAC 0.328000 74 33 0 0 1 0 0 BCAR1 9564 broad.mit.edu 37 16 75276718 75276718 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:75276718G>A uc002fdv.3 - 1 429 c.283C>T c.(283-285)Ccg>Tcg p.P95S BCAR1_uc010vna.2_Missense_Mutation_p.P93S|BCAR1_uc010cgu.3_Missense_Mutation_p.P95S|BCAR1_uc010vnb.2_Missense_Mutation_p.P141S|BCAR1_uc002fdw.3_Missense_Mutation_p.P95S|BCAR1_uc010vnc.2_Intron|BCAR1_uc010vnd.2_Missense_Mutation_p.P113S|BCAR1_uc002fdx.3_Missense_Mutation_p.P113S NM_014567 NP_055382 P56945 BCAR1_HUMAN Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA. 95 B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth cytosol|focal adhesion|membrane fraction|ruffle SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) TGGGAGGCCGGAGGCGCTGGG 0.677000 18 21 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80511759 80511759 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:80511759G>A uc003kha.2 + 23 3469 c.3419G>A c.(3418-3420)aGa>aAa p.R1140K RNU5E-1_uc011cto.1_Intron|RASGRF2_uc011ctn.2_Non-coding_Transcript NM_006909 NP_008840 O14827 RGRF2_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA. 1140 Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane Rho guanyl-nucleotide exchange factor activity|protein binding biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) AAAAATCTTAGAGAAACCCTT 0.259000 27 6 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31090316 31090316 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:31090316C>T uc002eap.3 + 1 2960 c.2671C>T c.(2671-2673)Cct>Tct p.P891S ZNF646_uc021tgu.1_Missense_Mutation_p.P891S NM_014699 NP_055514 O15015 ZN646_HUMAN Homo sapiens zinc finger protein 646 (ZNF646), mRNA. 891 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CATGATCTTCCCTGGGCGGGC 0.642000 20 17 0 0 1 0 0 FAIM2 23017 broad.mit.edu 37 12 50284496 50284496 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:50284496G>A uc001rvj.2 - 6 680 c.495C>T c.(493-495)ttC>ttT p.F165F FAIM2_uc001rvi.2_Silent_p.F119F NM_012306 NP_036438 Q9BWQ8 FAIM2_HUMAN Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA. 165 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2) 14 GGTTCCAGGGGAAATGCCTCC 0.592000 49 24 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2806826 2806826 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:2806826C>T uc022aqr.1 - 67 10787 c.10397G>A c.(10396-10398)aGg>aAg p.R3466K CSMD1_uc011kwj.2_Missense_Mutation_p.R2781K|CSMD1_uc010lrg.3_Missense_Mutation_p.R1358K NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3467 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTTACCTTGCCTTTCTAGCTT 0.343000 9 12 0 0 1 0 0 HMG20A 10363 broad.mit.edu 37 15 77769936 77769936 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:77769936C>T uc002bcr.3 + 7 856 c.655C>T c.(655-657)Cct>Tct p.P219S HMG20A_uc002bcs.3_Missense_Mutation_p.P219S NM_018200 NP_060670 Q9NP66 HM20A_HUMAN Homo sapiens high mobility group 20A (HMG20A), mRNA. 219 chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.P219L(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 TTTTGACATCCCTATATTTAC 0.333000 28 17 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849579 73849579 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:73849579G>A uc003xzb.3 + 2 2577 c.1989G>A c.(1987-1989)agG>agA p.R663R NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 663 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTGCTGCCAGGGATGGCACGC 0.552000 6 50 0 0 1 0 0 MYOZ2 51778 broad.mit.edu 37 4 120107240 120107240 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:120107240C>T uc003icp.4 + 5 893 c.680C>T c.(679-681)tCt>tTt p.S227F NM_016599 NP_057683 Q9NPC6 MYOZ2_HUMAN Homo sapiens myozenin 2 (MYOZ2), mRNA. 227 protein phosphatase 2B binding endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 AATCCCCTTTCTGGCAGACGG 0.388000 52 27 0 0 1 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812716 31812716 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:31812716C>T uc002yod.3 + 0 71 c.71C>T c.(70-72)tCc>tTc p.S24F NM_181623 NP_853654 Q3LI76 KR151_HUMAN Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA. 24 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 TATCCAGTTTCCACTTATAAT 0.458000 36 23 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82586179 82586179 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:82586179C>T uc003uhx.2 - 4 4379 c.4090G>A c.(4090-4092)Gga>Aga p.G1364R PCLO_uc003uhv.2_Missense_Mutation_p.G1364R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1295 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.T1363M(1) 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 GAAGAATATCCCGTGTCGCTC 0.423000 17 14 0 0 1 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150439698 150439698 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150439698G>A uc022apw.1 + 5 1223 c.1083G>A c.(1081-1083)ggG>ggA p.G361G GIMAP1-GIMAP5_uc003whr.2_Silent_p.G157G NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. AGGACTTAGGGGGCCAGGCCC 0.552000 161 36 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140777335 140777335 + Splice_Site SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:140777335G>A uc004cog.3 + 3 675 c.530_splice c.e3+1 p.G177_splice AK128414_uc004cof.1_Non-coding_Transcript|CACNA1B_uc022bqn.1_Splice_Site_p.G177_splice NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 177 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GTCCTCACAGGGTAGGCAAGC 0.622000 133 22 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926949 1926949 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:1926949C>T uc002qxe.3 - 9 1419 c.592G>A c.(592-594)Gat>Aat p.D198N MYT1L_uc002qxd.3_Missense_Mutation_p.D198N|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 198 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ACCAGTTCATCGTAATTGTCA 0.408000 13 8 0 0 1 0 0 CEP170 9859 broad.mit.edu 37 1 243362492 243362492 + Silent SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:243362492A>G uc021plo.1 - 6 909 c.501T>C c.(499-501)atT>atC p.I167I CEP170_uc021plp.1_Silent_p.I167I|CEP170_uc021plq.1_Silent_p.I167I NM_014812 NP_055627 Q5SW79 CE170_HUMAN Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA. 167 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GCATAGCAGAAATATCTGGAA 0.423000 22 7 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541105 55541105 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55541105C>T uc010ril.2 + 0 192 c.192C>T c.(190-192)ttC>ttT p.F64F NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F64_L65>LI(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TGTGCTTTTTCCTTAGTCACT 0.398000 47 35 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73065638 73065638 + RNA SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:73065638G>A uc004ebm.1 - 0 c.6951C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. GGAAGGGAAAGGAAGACTGGG 0.498000 8 10 0 0 1 0 0 KRT8 3856 broad.mit.edu 37 12 53293738 53293738 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:53293738C>T uc009zmk.1 - 5 906 c.886G>A c.(886-888)Gag>Aag p.E296K KRT8_uc001sbd.2_Missense_Mutation_p.E268K|KRT8_uc009zml.1_Missense_Mutation_p.E268K|KRT8_uc009zmm.1_Missense_Mutation_p.E268K NM_002273 NP_002264 P05787 K2C8_HUMAN Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA. 268 Coil 2.|Necessary for interaction with PNN.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity p.H296H(1) endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCAATATCCTCGTACTGTGCC 0.587000 51 18 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72046288 72046288 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:72046288C>T uc004ahh.2 - 12 2745 c.2469G>A c.(2467-2469)gcG>gcA p.A823A NM_001163 NP_001154 Q02410 APBA1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA. 823 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GCCTGTACATCGCGGCTGGCA 0.602000 70 29 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21462756 21462756 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:21462756G>A uc003cce.3 - 7 1546 c.1138C>T c.(1138-1140)Cct>Tct p.P380S NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 380 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 ATGGGTCCAGGAGCTGGCCGC 0.502000 23 7 0 0 1 0 0 OR11H6 122748 broad.mit.edu 37 14 20692503 20692503 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20692503C>T uc010tlc.2 + 0 635 c.635C>T c.(634-636)tCc>tTc p.S212F NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA. 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S212Y(4)|p.P211T(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TCTGCTCCTTCCACTGAGCTT 0.498000 22 9 0 0 1 0 0 LGMN 5641 broad.mit.edu 37 14 93180777 93180777 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:93180777A>G uc001yav.3 - 6 785 c.424T>C c.(424-426)Ttc>Ctc p.F142L LGMN_uc001yat.3_Missense_Mutation_p.F142L|LGMN_uc001yau.3_Missense_Mutation_p.F142L|LGMN_uc001yaw.3_Missense_Mutation_p.F142L NM_001008530 NP_005597 Q99538 LGMN_HUMAN Homo sapiens legumain (LGMN), transcript variant 2, mRNA. 142 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) AAGTAAATGAACACGTGATCC 0.398000 OREG0022880 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 24 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20657798 20657798 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:20657798G>A uc001ytg.3 - 15 2180 c.1471C>T c.(1471-1473)Ccc>Tcc p.P491S HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.P491S|HERC2P3_uc010tyy.2_Missense_Mutation_p.P491S|HERC2P3_uc010tyz.1_3'UTR Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA. central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GTTTGCAGGGGAACCGGCTGG 0.512000 31 9 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47559879 47559879 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:47559879G>A uc003gxk.1 + 11 2187 c.2023G>A c.(2023-2025)Gag>Aag p.E675K ATP10D_uc003gxl.1_Intron NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 675 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TGTGGAGGAAGAGGTCTCCCA 0.527000 44 23 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107580566 107580566 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:107580566C>T uc003vev.2 - 22 3862 c.3701G>A c.(3700-3702)aGt>aAt p.S1234N LAMB1_uc003vew.2_Missense_Mutation_p.S1210N NM_002291 NP_002282 P07942 LAMB1_HUMAN Homo sapiens laminin, beta 1 (LAMB1), mRNA. 1210 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATCACACCACTGATCTTCAA 0.562000 62 39 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6588622 6588623 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:6588622_6588623GG>AA uc003zkc.3 - 12 1853_1854 c.1660_1661CC>TT c.(1660-1662)cca>TTa p.P554L NM_000170 NP_000161 P23378 GCSP_HUMAN Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA. 554 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AACTACCAGTGGAATCATGCTG 0.431000 28 14 0 0 1 0 0 USP25 29761 broad.mit.edu 37 21 17199318 17199318 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:17199318C>T uc011aby.1 + 13 1706 c.1489C>T c.(1489-1491)Cta>Tta p.L497L USP25_uc002yjz.1_Silent_p.L497L|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Silent_p.L497L NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA. 497 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) ACAGGGAGCCCTATCTTCAGA 0.428000 61 26 0 0 1 0 0 C9orf174 100499483 broad.mit.edu 37 9 100080766 100080766 + Silent SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:100080766T>C uc011lut.2 + 23 2536 c.1530T>C c.(1528-1530)agT>agC p.S510S C9orf174_uc004axe.2_Silent_p.S510S|C9orf174_uc011lus.2_Silent_p.S328S|C9orf174_uc004axg.2_Silent_p.S371S|C9orf174_uc010msm.1_Intron|C9orf174_uc004axf.3_Silent_p.S371S|C9orf174_uc011luv.1_Silent_p.S368S NM_020893 NP_065944 Q9P1Z9 CI174_HUMAN Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA. 510 integral to membrane breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1) 16 CCAGTGAGAGTATCCATACTC 0.562000 12 14 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44099258 44099258 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:44099258G>A uc002rtq.3 + 6 1198 c.1108G>A c.(1108-1110)Gag>Aag p.E370K ABCG8_uc010yoa.2_Missense_Mutation_p.E370K NM_022437 NP_071882 Q9H221 ABCG8_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA. 370 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GGATCTTGACGAGGACACCTG 0.557000 54 32 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801193 185801193 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:185801193G>A uc002uph.3 + 3 1664 c.1070G>A c.(1069-1071)gGa>gAa p.G357E NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 357 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GAGTTGTTAGGAAATAAATCC 0.368000 33 9 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196636426 196636426 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:196636426C>T uc002utj.4 - 60 11492 c.11391G>A c.(11389-11391)aaG>aaA p.K3797K DNAH7_uc002uti.4_Silent_p.K280K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3797 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.L3796L(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTCTTATGGTCTTCAGTAACT 0.378000 92 49 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31877510 31877510 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:31877510C>T uc003tcm.2 - 9 1517 c.1056G>A c.(1054-1056)atG>atA p.M352I PDE1C_uc003tcn.1_Missense_Mutation_p.M352I|PDE1C_uc003tco.2_Missense_Mutation_p.M412I|PDE1C_uc003tcr.3_Missense_Mutation_p.M352I|PDE1C_uc003tcs.3_Missense_Mutation_p.M352I NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 352 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GAGCAGTCTTCATTGCTTTGA 0.433000 103 58 0 0 1 0 0 LCE5A 254910 broad.mit.edu 37 1 152484149 152484149 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:152484149C>T uc021oyx.1 + 0 139 c.139C>T c.(139-141)Cca>Tca p.P47S LCE5A_uc001ezy.3_Missense_Mutation_p.P47S|CRCT1_uc001ezz.3_5'Flank NM_178438 NP_848525 Q5TCM9 LCE5A_HUMAN Homo sapiens late cornified envelope 5A (LCE5A), mRNA. 47 Cys-rich. keratinization lung(3)|ovary(1)|prostate(3) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ATGCCCACCTCCAGTCTCTTC 0.622000 54 26 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52827874 52827874 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:52827874G>A uc001saj.2 - 0 237 c.215C>T c.(214-216)tCc>tTc p.S72F NM_004693 NP_004684 O95678 K2C75_HUMAN Homo sapiens keratin 75 (KRT75), mRNA. 72 Gly-rich.|Head. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) CCCATTGATGGAGACCCGCTT 0.622000 47 26 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9136628 9136628 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:9136628G>A uc003jek.2 - 12 2299 c.1587C>T c.(1585-1587)atC>atT p.I529I NM_003966 NP_003957 Q13591 SEM5A_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA. 529 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GACACGCAGAGATGCTCTGTT 0.582000 26 17 0 0 1 0 0 WDR35 57539 broad.mit.edu 37 2 20136055 20136055 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:20136055G>A uc002rdi.3 - 20 2480 c.2372C>T c.(2371-2373)tCt>tTt p.S791F WDR35_uc002rdj.3_Missense_Mutation_p.S780F|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Missense_Mutation_p.S356F|WDR35_uc002rdk.4_Missense_Mutation_p.S356F NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA. 791 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCATCACCAGATCCAGTTTT 0.458000 40 18 0 0 1 0 0 SPANXE 171489 broad.mit.edu 37 X 140785830 140785830 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:140785830G>A uc004fbq.3 - 1 179 c.86C>T c.(85-87)tCg>tTg p.S29L NM_145665 NP_663698 Q8TAD1 SPNXE_HUMAN Homo sapiens SPANX family, member E (SPANXE), mRNA. 29 cytoplasm|nucleus Acute lymphoblastic leukemia(192;7.65e-05) GTACCCACTCGAGGTCTCCGG 0.478000 77 31 0 0 1 0 0 NPNT 255743 broad.mit.edu 37 4 106861258 106861258 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:106861258G>A uc011cfd.2 + 6 835 c.622G>A c.(622-624)Gcc>Acc p.A208T NPNT_uc011cfc.2_Missense_Mutation_p.A195T|NPNT_uc011cfe.2_Missense_Mutation_p.A208T|NPNT_uc003hya.3_Missense_Mutation_p.A178T|NPNT_uc011cff.2_Missense_Mutation_p.A178T NM_001184691 NP_001171620 Q6UXI9 NPNT_HUMAN Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA. 178 EGF-like 4; calcium-binding (Potential). cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) TACAGGAAGAGCCTCCTGCCC 0.388000 32 22 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40901894 40901894 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:40901894C>T uc002onr.3 - 6 2634 c.2365G>A c.(2365-2367)Gca>Aca p.A789T PRX_uc002onq.3_Missense_Mutation_p.A650T|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 789 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCCTGTTCTGCCTTGGTGGCC 0.597000 76 41 0 0 1 0 0 ETV1 2115 broad.mit.edu 37 7 13935541 13935541 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:13935541C>T uc021zzz.1 - 11 1471 c.1384G>A c.(1384-1386)Gaa>Aaa p.E462K ETV1_uc021zzt.1_Missense_Mutation_p.E422K|ETV1_uc021zzu.1_Missense_Mutation_p.E359K|ETV1_uc021zzv.1_Missense_Mutation_p.E404K|ETV1_uc021zzw.1_3'UTR|ETV1_uc021zzx.1_3'UTR|ETV1_uc021zzy.1_3'UTR|ETV1_uc022aaa.1_Missense_Mutation_p.E444K|ETV1_uc022aab.1_3'UTR|ETV1_uc003ssw.4_Missense_Mutation_p.E439K|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_3'UTR|ETV1_uc022aad.1_3'UTR|ETV1_uc021zzs.1_5'Flank NM_004956 NP_004947 P50549 ETV1_HUMAN Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA. 462 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 CAGCCCCCTTCCGGCATGTAG 0.512000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 17 7 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78944663 78944663 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:78944663G>A uc001jxn.3 - 3 791 c.614C>T c.(613-615)tCc>tTc p.S205F KCNMA1_uc021ptu.1_Missense_Mutation_p.S151F|KCNMA1_uc001jxj.2_Missense_Mutation_p.S205F|KCNMA1_uc001jxk.1_5'Flank|KCNMA1_uc009xrt.1_Missense_Mutation_p.S25F|KCNMA1_uc001jxo.3_Missense_Mutation_p.S205F|KCNMA1_uc001jxm.3_Missense_Mutation_p.S205F|KCNMA1_uc001jxq.3_Missense_Mutation_p.S205F NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA. 205 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) ATTCTGGCAGGATTCTATTGG 0.428000 60 28 0 0 1 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171766268 171766268 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:171766268G>A uc003mbr.3 - 12 2012 c.1841C>T c.(1840-1842)cCc>cTc p.P614L NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA. 614 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTTGGAGATGGGCCGGAGGTT 0.527000 29 13 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39230171 39230171 + Missense_Mutation SNP C T T rs150437844 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:39230171C>T uc003cjk.2 - 1 995 c.766G>A c.(766-768)Gca>Aca p.A256T XIRP1_uc003cji.3_Missense_Mutation_p.A256T|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.A256T NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 256 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TCCCGGCATGCGGCCTTGACC 0.617000 53 39 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38835429 38835429 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:38835429C>T uc003ciq.3 - 0 73 c.73G>A c.(73-75)Gag>Aag p.E25K NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 25 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ATTTGCTTCTCTATCTCCACC 0.483000 82 40 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20636748 20636748 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:20636748C>T uc002dhm.1 - 10 1592 c.1524G>A c.(1522-1524)ggG>ggA p.G508G ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.G508G NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 508 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TCCTCACCTCCCCTCGAATCG 0.602000 24 8 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33954146 33954146 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:33954146C>T uc001bxj.4 + 2 666 c.499C>T c.(499-501)Ccc>Tcc p.P167S ZSCAN20_uc001bxk.2_Missense_Mutation_p.P167S|ZSCAN20_uc009vui.3_Missense_Mutation_p.P167S NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 167 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GCCAGTGGATCCCTGGCCTGA 0.522000 31 10 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125103777 125103777 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:125103777G>A uc003yqw.3 + 33 4711 c.4505G>A c.(4504-4506)gGa>gAa p.G1502E AK057332_uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1502 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ATACAGATAGGAAACCAAGTC 0.453000 90 30 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33988985 33988985 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:33988985G>A uc001bxm.1 - 66 10608 c.10431C>T c.(10429-10431)ctC>ctT p.L3477L CSMD2_uc001bxn.1_Silent_p.L3333L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 3333 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGTACACCTGGAGTAGGAGAT 0.388000 7 4 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157504560 157504560 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:157504560G>A uc009wsm.3 - 7 1683 c.1525C>T c.(1525-1527)Cat>Tat p.H509Y FCRL5_uc001fqu.3_Missense_Mutation_p.H509Y|FCRL5_uc010phv.1_Missense_Mutation_p.H509Y|FCRL5_uc010phw.1_Missense_Mutation_p.H424Y|FCRL5_uc001fqv.1_Missense_Mutation_p.H509Y|FCRL5_uc010phx.2_Missense_Mutation_p.H260Y NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 509 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ATGTCCTCATGATAAAACTGG 0.512000 19 11 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1993429 1993429 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:1993429C>T uc021qsx.1 - 11 1562 c.1331G>A c.(1330-1332)tGg>tAg p.W444* CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 444 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GCATGCAATCCACTTCATGCG 0.542000 16 11 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69681168 69681168 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:69681168C>T uc002exm.2 + 2 773 c.437C>T c.(436-438)cCa>cTa p.P146L NFAT5_uc002exj.2_Missense_Mutation_p.P70L|NFAT5_uc002exk.2_Missense_Mutation_p.P70L|NFAT5_uc002exl.2_Missense_Mutation_p.P164L|NFAT5_uc002exn.2_Missense_Mutation_p.P164L|NFAT5_uc002exh.2_Intron|NFAT5_uc002exi.3_Missense_Mutation_p.P70L NM_006599 NP_775322 O94916 NFAT5_HUMAN Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA. 146 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TACATCTCACCACCACCTGAG 0.507000 54 35 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227915704 227915704 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:227915704G>A uc021vxr.1 - 31 3240 c.3139C>T c.(3139-3141)Cca>Tca p.P1047S COL4A4_uc021vxs.1_Missense_Mutation_p.P1047S NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1047 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TGGTCACCTGGAAGTCCTGGA 0.527000 51 26 0 0 1 0 0 C16orf72 29035 broad.mit.edu 37 16 9197091 9197091 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:9197091C>T uc002czm.3 + 2 923 c.558C>T c.(556-558)ccC>ccT p.P186P NM_014117 NP_054836 Q14CZ0 CP072_HUMAN Homo sapiens chromosome 16 open reading frame 72 (C16orf72), mRNA. 186 endometrium(4)|large_intestine(2)|lung(2) 8 ATTTGCAACCCTTCCGGGAAG 0.473000 25 13 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94962758 94962758 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:94962758C>T uc001ydj.3 - 3 1653 c.857G>A c.(856-858)gGa>gAa p.G286E NM_173850 NP_776249 Q8IW75 SPA12_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA. 286 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) CACCTGCAATCCCTTCTCCAA 0.483000 82 42 0 0 1 0 0 IL1R2 7850 broad.mit.edu 37 2 102626085 102626085 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:102626085G>A uc002tbm.3 + 2 358 c.129G>A c.(127-129)ggG>ggA p.G43G IL1R2_uc002tbn.3_Silent_p.G43G|IL1R2_uc002tbo.1_Silent_p.G43G NM_004633 NP_775465 P27930 IL1R2_HUMAN Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA. 43 Ig-like C2-type 1. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) GGCTGGAAGGGGAGCCTGTAG 0.597000 87 40 0 0 1 0 0 LYL1 4066 broad.mit.edu 37 19 13211542 13211542 + Missense_Mutation SNP C T T rs149285767 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:13211542C>T uc002mwi.3 - 2 1010 c.356G>A c.(355-357)gGa>gAa p.G119E NM_005583 NP_005574 P12980 LYL1_HUMAN Homo sapiens lymphoblastic leukemia derived sequence 1 (LYL1), mRNA. 119 B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1) 7 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GCTAAAAGGTCCTGCTGGCCC 0.602000 T TRB@ T-ALL 96 67 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179658154 179658154 + Missense_Mutation SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179658154G>C uc021vsy.1 - 8 1738 c.1513C>G c.(1513-1515)Cag>Gag p.Q505E TTN_uc021vsz.1_Missense_Mutation_p.Q505E|TTN_uc021vta.1_Missense_Mutation_p.Q505E|TTN_uc021vtb.1_Missense_Mutation_p.Q505E|TTN_uc002unb.2_Missense_Mutation_p.Q505E|TTN_uc010frg.1_Missense_Mutation_p.Q179E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 505 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) ACGTGCATCTGCTCTTGCTTT 0.403000 145 5 0 0 1 0 0 LPAR1 1902 broad.mit.edu 37 9 113637798 113637798 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:113637798T>A uc011lwo.2 - 2 1003 c.1001A>T c.(1000-1002)aAc>aTc p.N334I LPAR1_uc004bfa.3_Missense_Mutation_p.N333I|LPAR1_uc011lwm.2_Missense_Mutation_p.N334I|LPAR1_uc004bfc.3_Missense_Mutation_p.N333I|LPAR1_uc011lwn.2_Missense_Mutation_p.N315I|LPAR1_uc004bfb.3_Missense_Mutation_p.N333I|LPAR1_uc010mub.3_Missense_Mutation_p.N333I NM_057159 NP_476500 Q92633 LPAR1_HUMAN Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA. 333 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 GCCGGTGGGGTTCTCACTGCG 0.552000 58 16 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160262956 160262956 + Splice_Site SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:160262956C>T uc001fvv.4 - 27 3244 c.2850_splice c.e27+1 p.R950_splice COPA_uc009wti.3_Splice_Site_p.R941_splice NM_001098398 NP_001091868 P53621 COPA_HUMAN Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA. 941 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGTTACTTACCCGCATGGCTG 0.468000 81 43 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7548916 7548916 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:7548916C>T uc010sge.2 - 7 1881 c.1855G>A c.(1855-1857)Gat>Aat p.D619N CD163L1_uc001qsy.3_Missense_Mutation_p.D609N NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 609 SRCR 6. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CAGCCGTCATCACACACTGTG 0.572000 25 12 0 0 1 0 0 OR10H5 284433 broad.mit.edu 37 19 15905399 15905399 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:15905399G>A uc010xos.2 + 0 541 c.541G>A c.(541-543)Gtg>Atg p.V181M NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA. 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 CTTCTGCCACGTGCCACCTCT 0.582000 51 24 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141032134 141032134 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:141032134G>A uc002tvj.1 - 84 13973 c.13001C>T c.(13000-13002)tCa>tTa p.S4334L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 4334 EGF-like 13. 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) AATGGTACATGATTCAGAATT 0.403000 TSP Lung(27;0.18) 35 17 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97915703 97915703 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:97915703G>A uc001drv.3 - 13 1954 c.1817C>T c.(1816-1818)tCc>tTc p.S606F NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 606 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ATTCAGAAAGGAGCTTTGTCC 0.448000 39 19 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33044051 33044051 + Missense_Mutation SNP C A A rs138418942 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:33044051C>A uc002ypd.2 - 19 3531 c.3105G>T c.(3103-3105)agG>agT p.R1035S SCAF4_uc002ype.2_Missense_Mutation_p.R1013S|SCAF4_uc010glu.2_Missense_Mutation_p.R1020S NM_020706 NP_065757 O95104 SFR15_HUMAN Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA. 1035 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 CAGGGCTCCTCCTTCCCCACT 0.488000 41 19 7.21436e-19 7.31353e-19 1 1 0 ZSCAN1 284312 broad.mit.edu 37 19 58565236 58565236 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:58565236G>A uc002qrc.1 + 5 1291 c.1044G>A c.(1042-1044)agG>agA p.R348R NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA. 348 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGCCACCGAGGAAGAAAGCCC 0.667000 35 6 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 154801148 154801148 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:154801148G>A uc002tyt.4 + 0 242 c.138G>A c.(136-138)ttG>ttA p.L46L GALNT13_uc002tyr.4_Silent_p.L46L NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 46 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TGCCTGCATTGAGGGGTAAGT 0.403000 74 41 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131922026 131922026 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:131922026C>T uc003ytd.4 - 5 1824 c.1568G>A c.(1567-1569)aGg>aAg p.R523K ADCY8_uc010mds.3_Missense_Mutation_p.R523K NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 523 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTGCCACTTCCTTAGTCCCAA 0.478000 HNSCC(32;0.087) 53 156 0 0 1 0 0 FGF13 2258 broad.mit.edu 37 X 137785187 137785187 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:137785187G>A uc004fam.3 - 2 1023 c.361C>T c.(361-363)Ctg>Ttg p.L121L FGF13_uc004fan.3_Silent_p.L68L|FGF13_uc011mwi.2_Silent_p.L102L|FGF13_uc004faq.3_Silent_p.L131L|FGF13_uc004far.3_Silent_p.L102L|FGF13_uc011mwj.2_Silent_p.L131L|FGF13_uc011mwk.2_Silent_p.L75L NM_004114 NP_004105 Q92913 FGF13_HUMAN Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA. 121 MAPKKK cascade|cell-cell signaling|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) GCCAAGTACAGCTTGGTTTGA 0.393000 23 35 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70049412 70049412 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:70049412C>T uc001svg.3 - 9 1509 c.1282G>A c.(1282-1284)Gac>Aac p.D428N BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.D215N|BEST3_uc010stm.2_Missense_Mutation_p.D322N NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 428 chloride channel complex|plasma membrane chloride channel activity p.D428N(1)|p.D215N(1) cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GGGCTGAGGTCATCTCGGGGT 0.592000 45 31 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87614357 87614357 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:87614357G>A uc001kdl.1 - 7 1230 c.1129C>T c.(1129-1131)Ctc>Ttc p.L377F GRID1_uc009xsu.1_Non-coding_Transcript NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA. 377 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) ACCCCAGTGAGGCCAGTGATG 0.493000 Multiple Myeloma(13;0.14) 46 18 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 73000170 73000170 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:73000170C>T uc002lly.3 + 1 3236 c.2673C>T c.(2671-2673)tcC>tcT p.S891S TSHZ1_uc021uln.1_Silent_p.S891S NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA. 936 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CTGGGCTCTCCATGACCACCA 0.557000 40 12 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140282006 140282006 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:140282006C>T uc003etn.3 + 14 2633 c.2443C>T c.(2443-2445)Cat>Tat p.H815Y NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 815 homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCAGTCTGTCCATCATCCTGA 0.527000 HNSCC(16;0.037) 77 44 0 0 1 0 0 EVX1 2128 broad.mit.edu 37 7 27283001 27283001 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:27283001G>A uc003szd.1 + 0 838 c.352G>A c.(352-354)Gat>Aat p.D118N EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Missense_Mutation_p.D118N NM_001989 NP_001980 P49640 EVX1_HUMAN Homo sapiens even-skipped homeobox 1 (EVX1), mRNA. 118 Asp/Glu-rich (acidic). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1) 14 CACCGAGTCGGATTTCTATGA 0.672000 20 4 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46600951 46600951 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:46600951C>T uc009zkj.1 - 7 1235 c.550G>A c.(550-552)Gaa>Aaa p.E184K SLC38A1_uc001rpb.3_Missense_Mutation_p.E184K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E184K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E184K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E184K|SLC38A1_uc010slh.2_Missense_Mutation_p.E157K|SLC38A1_uc001rpa.3_Missense_Mutation_p.E184K NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA. 184 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) AATGTCTCTTCCTTTCCCATT 0.303000 31 11 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74450947 74450947 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:74450947C>T uc003hhd.1 - 5 736 c.613G>A c.(613-615)Gaa>Aaa p.E205K RASSF6_uc003hhc.1_Missense_Mutation_p.E173K|RASSF6_uc010iik.1_Missense_Mutation_p.E173K|RASSF6_uc010iil.1_Missense_Mutation_p.E161K NM_201431 NP_803876 Q6ZTQ3 RASF6_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA. 205 apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TTCTGTCTTTCTTTTCTGTCC 0.383000 34 17 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48883186 48883187 + Missense_Mutation DNP CC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:48883186_48883187CC>TT uc003xqk.2 + 11 2376_2377 c.1550_1551CC>TT c.(1549-1551)tcc>tTT p.S517F MCM4_uc003xql.2_Missense_Mutation_p.S517F|MCM4_uc011ldi.2_Missense_Mutation_p.S504F NM_182746 NP_877423 P33991 MCM4_HUMAN Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA. 517 MCM. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) ACCAGCAAGTCCCAGCTGCTGC 0.559000 76 15 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18668087 18668087 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:18668087G>A uc002gul.3 + 6 1785 c.1553G>A c.(1552-1554)cGa>cAa p.R518Q FBXW10_uc002guj.3_Missense_Mutation_p.R489Q|FBXW10_uc002guk.3_Missense_Mutation_p.R489Q|FBXW10_uc010cqh.2_Missense_Mutation_p.R489Q NM_031456 NP_113644 Q5XX13 FBW10_HUMAN Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA. 489 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 GTTTGCACACGAATCTTCGGT 0.493000 27 14 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189191 124189191 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:124189191C>T uc010sah.2 - 0 903 c.903G>A c.(901-903)ctG>ctA p.L301L NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 301 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) TCATCTTCTTCAGTGCATTTT 0.393000 45 23 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41590762 41590762 + Silent SNP G C C rs150512730 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:41590762G>C uc002idu.1 + 16 2607 c.2535G>C c.(2533-2535)tcG>tcC p.S845S DHX8_uc010wif.1_Silent_p.S754S|DHX8_uc010wig.2_Silent_p.S845S NM_004941 NP_004932 Q14562 DHX8_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA. 845 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) CAGAGACATCGCTGACTATTG 0.512000 82 41 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137620588 137620588 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:137620588G>A uc004cfe.3 + 5 1241 c.859G>A c.(859-861)Ggg>Agg p.G287R NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 287 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CGAAGACCTAGGGAAGGAGCC 0.612000 80 50 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150768656 150768656 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150768656G>A uc022apz.1 + 13 3195 c.2155G>A c.(2155-2157)Gcc>Acc p.A719T SLC4A2_uc003wit.4_Missense_Mutation_p.A719T|SLC4A2_uc011kve.2_Missense_Mutation_p.A710T|SLC4A2_uc003wiu.4_Missense_Mutation_p.A705T NM_001199692 NP_001186621 P04920 B3A2_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA. 719 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTACTTTGCCGCCCTGTCTCC 0.642000 45 14 0 0 1 0 0 LRRC8C 84230 broad.mit.edu 37 1 90179192 90179192 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:90179192C>T uc001dnl.4 + 2 1305 c.1063C>T c.(1063-1065)Cgt>Tgt p.R355C NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA. 355 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) TGAGTATGTCCGTCAGGAGAC 0.383000 22 16 0 0 1 0 0 PRKCA 5578 broad.mit.edu 37 17 64738852 64738853 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:64738852_64738853GG>AA uc002jfo.1 + 13 1603_1604 c.1111_1112GG>AA c.(1111-1113)ggg>AAg p.G371K PRKCA_uc002jfp.1_Missense_Mutation_p.G500K P17252 KPCA_HUMAN Homo sapiens protein kinase C, alpha (PRKCA), mRNA. 500 Protein kinase. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GACCTTCTGTGGGACTCCAGAT 0.480000 39 11 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54860025 54860025 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:54860025C>T uc021smr.1 + 27 5980 c.5980C>T c.(5980-5982)Ctg>Ttg p.L1994L UNC13C_uc021sms.1_Silent_p.L1996L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1996 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGGAAATGGCCTGAAAAAGAA 0.353000 9 3 0 0 1 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841819 8841819 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:8841819G>A uc010xkg.2 + 0 429 c.429G>A c.(427-429)ctG>ctA p.L143L NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA. 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TATGTCTGCTGATGATGGGCT 0.547000 55 25 0 0 1 0 0 AQPEP 206338 broad.mit.edu 37 5 115338599 115338599 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:115338599C>T uc003kro.3 + 10 2052 c.1888C>T c.(1888-1890)Caa>Taa p.Q630* AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN Homo sapiens laeverin (AQPEP), mRNA. 630 proteolysis integral to membrane metallopeptidase activity|zinc ion binding CTGGCTAGATCAAAGCAGCAG 0.294000 20 11 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141625798 141625798 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:141625798G>A uc002tvj.1 - 25 5176 c.4204C>T c.(4204-4206)Cct>Tct p.P1402S LRP1B_uc010fnl.1_Missense_Mutation_p.P584S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 1402 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) TCAATGCGAGGAAAATTTGCA 0.348000 TSP Lung(27;0.18) 51 21 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72175941 72175941 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:72175941G>A uc002atl.4 - 27 5865 c.5392C>T c.(5392-5394)Cca>Tca p.P1798S MYO9A_uc002atk.3_Missense_Mutation_p.P593S|MYO9A_uc002atm.1_Missense_Mutation_p.P594S NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 1798 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTACCATCTGGAAACTGATGA 0.423000 42 28 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81112661 81112661 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:81112661C>T uc001szg.2 + 2 734 c.599C>T c.(598-600)tCc>tTc p.S200F NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 200 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GATAAAAACTCCTTATCCAGC 0.418000 57 17 0 0 1 0 0 REM1 28954 broad.mit.edu 37 20 30064458 30064458 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:30064458C>T uc002wwa.3 + 1 494 c.210C>T c.(208-210)tcC>tcT p.S70S NM_014012 NP_054731 O75628 REM1_HUMAN Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA. 70 small GTPase mediated signal transduction membrane GTP binding|GTPase activity|calmodulin binding kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1) 23 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CTTCTGAATCCAGCGACTCTG 0.592000 43 16 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90086768 90086768 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:90086768G>A uc003kju.3 + 69 14218 c.14122G>A c.(14122-14124)Gga>Aga p.G4708R GPR98_uc003kjt.3_Missense_Mutation_p.G2414R|GPR98_uc003kjw.3_Missense_Mutation_p.G369R NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 4708 Calx-beta 32. 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) CATTGCTGATGGAGAGAGTGA 0.393000 53 36 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103182757 103182757 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:103182757C>T uc001phn.1 + 79 11809 c.11665C>T c.(11665-11667)Cct>Tct p.P3889S DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.P3882S NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA. 3882 AAA 6 (By similarity). Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AAACTATATTCCTCAGGTAAG 0.363000 44 20 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72388250 72388250 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:72388250C>T uc009zrw.1 + 7 1114 c.973C>T c.(973-975)Cca>Tca p.P325S TPH2_uc001swy.2_Missense_Mutation_p.P235S NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA. 325 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) GGGACATGTTCCACTACTTGC 0.423000 69 34 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47221559 47221559 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:47221559C>T uc010fbb.3 + 6 1275 c.907C>T c.(907-909)Ccc>Tcc p.P303S TTC7A_uc002rvm.3_Missense_Mutation_p.P269S|TTC7A_uc002rvn.1_Missense_Mutation_p.P184S|TTC7A_uc002rvo.3_Missense_Mutation_p.P303S|TTC7A_uc010fbc.3_Intron|TTC7A_uc002rvp.3_Missense_Mutation_p.P184S|TTC7A_uc002rvq.3_Missense_Mutation_p.P43S|TTC7A_uc002rvr.3_5'UTR NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA. 303 binding p.P303P(1) breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) CTACTGGAGCCCCCTGTCCCA 0.607000 59 43 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47402346 47402346 + Missense_Mutation SNP C T T rs144065752 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:47402346C>T uc001cqp.4 - 3 551 c.500G>A c.(499-501)cGa>cAa p.R167Q CYP4A11_uc001cqq.2_Missense_Mutation_p.R167Q|CYP4A11_uc010omm.1_Non-coding_Transcript NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 167 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) CAGCATCACTCGTACAGAGTC 0.562000 25 41 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81545838 81545838 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:81545838G>A uc001szl.1 + 6 1152 c.1061G>A c.(1060-1062)gGa>gAa p.G354E ACSS3_uc001szm.1_Missense_Mutation_p.G353E|ACSS3_uc001szn.1_Missense_Mutation_p.G36E NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 354 mitochondrion ATP binding|acetate-CoA ligase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 ATCTGCTATGGACCTCTTCTT 0.303000 45 17 0 0 1 0 0 ZNF883 169834 broad.mit.edu 37 9 115759671 115759671 + Missense_Mutation SNP A C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:115759671A>C uc011lwy.2 - 4 2108 c.869T>G c.(868-870)gTg>gGg p.V290G NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN Homo sapiens zinc finger protein 883 (ZNF883), mRNA. 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ATAGGGTTTCACACAAGAATG 0.383000 118 44 0 0 1 0 0 LRRN4CL 221091 broad.mit.edu 37 11 62455746 62455746 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:62455746G>A uc021qkm.1 - 0 235 c.235C>T c.(235-237)Ccc>Tcc p.P79S LRRN4CL_uc001nun.3_Missense_Mutation_p.P79S NM_203422 NP_981967 Q8ND94 LRN4L_HUMAN Homo sapiens LRRN4 C-terminal like (LRRN4CL), mRNA. 79 integral to membrane cervix(1)|kidney(1) 2 GGCTGGGCGGGGCTGGAGAGT 0.716000 7 5 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40854101 40854101 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:40854101C>T uc003jmg.3 + 2 2742 c.2667C>T c.(2665-2667)tcC>tcT p.S889S NM_032587 NP_115976 Q9BX69 CARD6_HUMAN Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA. 889 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TAAGAACATCCCATATTGGAA 0.488000 52 34 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166901678 166901678 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:166901678C>T uc002udo.4 - 11 1764 c.1537G>A c.(1537-1539)Gaa>Aaa p.E513K SCN1A_uc010fpk.3_Missense_Mutation_p.E513K|SCN1A_uc021vsb.1_Missense_Mutation_p.E513K NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 513 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTTTCTCTTCCCCACCAGAC 0.433000 132 50 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854670 18854670 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:18854670C>T uc021qvx.1 - 7 1096 c.905G>A c.(904-906)gGa>gAa p.G302E PLCZ1_uc001rdv.4_Missense_Mutation_p.G198E|PLCZ1_uc001rdw.4_Missense_Mutation_p.G43E|PLCZ1_uc001rdu.1_Missense_Mutation_p.G43E|PLCZ1_uc009zil.1_Non-coding_Transcript NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA. 302 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CTTTAAGGTTCCTATTTTCTT 0.363000 16 6 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32313824 32313824 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:32313824C>T uc001utt.3 + 0 146 c.75C>T c.(73-75)atC>atT p.I25I RXFP2_uc010aba.3_Silent_p.I25I NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 25 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TTCATTTCATCGTTCTGATCA 0.318000 42 17 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111431705 111431705 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:111431705T>A uc002tgc.3 - 2 295 c.183A>T c.(181-183)aaA>aaT p.K61N BUB1_uc010yxh.2_Missense_Mutation_p.K41N|BUB1_uc010fkb.3_Missense_Mutation_p.K61N|BUB1_uc002tgd.2_Missense_Mutation_p.K61N NM_004336 NP_004327 O43683 BUB1_HUMAN Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA. 61 BUB1 N-terminal.|Necessary for kinetochore localization. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) CATTGTGGTATTTCTTCTTAT 0.264000 19 11 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 71447268 71447268 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:71447268G>A uc002atb.1 + 1 175 c.96G>A c.(94-96)agG>agA p.R32R NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA. 32 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CTCAACACAGGAAGGTAAGCC 0.527000 51 30 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36242644 36242644 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:36242644C>T uc021rid.1 + 56 9272 c.8738C>T c.(8737-8739)tCc>tTc p.S2913F NBEA_uc021ric.1_Missense_Mutation_p.S2910F|NBEA_uc010abi.3_Missense_Mutation_p.S1571F|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.S706F|NBEA_uc001uvd.3_Missense_Mutation_p.S491F NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 2913 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATGGACTTGTCCCATGACCAG 0.498000 27 16 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10247208 10247208 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:10247208G>A uc002gmk.1 - 15 1893 c.1803C>T c.(1801-1803)gaC>gaT p.D601D MYH13_uc010vvf.1_Silent_p.D276D NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 601 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CGTTCAGGGGGTCCTTGTTTT 0.547000 37 26 0 0 1 0 0 ATP2A3 489 broad.mit.edu 37 17 3839645 3839645 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:3839645G>A uc002fwy.2 - 15 2613 c.2440C>T c.(2440-2442)Ctg>Ttg p.L814L ATP2A3_uc002fwz.2_Silent_p.L814L|ATP2A3_uc002fxa.2_Silent_p.L814L|ATP2A3_uc002fxb.2_Silent_p.L814L|ATP2A3_uc002fxc.2_Silent_p.L814L|ATP2A3_uc002fxd.2_Silent_p.L814L|ATP2A3_uc002fwx.2_Silent_p.L814L NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 814 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) ATGATGTCCAGGTCTGGCGGG 0.642000 53 33 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47252065 47252065 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:47252065C>T uc003oyv.3 - 2 1285 c.852G>A c.(850-852)ggG>ggA p.G284G NM_014452 NP_055267 O75509 TNR21_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA. 284 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) CGTCTTCCTTCCCCCTTGCTG 0.537000 112 151 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21098365 21098365 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:21098365C>T uc010vbe.2 - 18 2682 c.2682G>A c.(2680-2682)ctG>ctA p.L894L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 894 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCTCAGCATTCAGTAAGAAGA 0.468000 59 31 0 0 1 0 0 ENPP5 59084 broad.mit.edu 37 6 46135214 46135214 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:46135214G>A uc003oxz.1 - 1 994 c.786C>T c.(784-786)acC>acT p.T262T ENPP5_uc010jzc.1_Silent_p.T262T|ENPP5_uc011dvz.1_Silent_p.T168T|ENPP5_uc003oya.1_Silent_p.T262T NM_021572 NP_067547 Q9UJA9 ENPP5_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA. 262 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 GATCAATCAGGGTATAGTGGT 0.443000 120 72 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35919229 35919229 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:35919229C>T uc003olm.3 - 17 2391 c.2280G>A c.(2278-2280)ggG>ggA p.G760G SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Silent_p.G342G|SLC26A8_uc003oll.3_Silent_p.G655G|SLC26A8_uc003oln.3_Silent_p.G760G NM_001193476 NP_443193 Q96RN1 S26A8_HUMAN Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA. 760 Interaction with RACGAP1.|STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 CACAGTGACACCCTGCAATGA 0.468000 120 30 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158389846 158389846 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:158389846C>T uc010pii.2 - 0 811 c.811G>A c.(811-813)Gat>Aat p.D271N NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA. 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q270H(1) NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) ATTAGAGCATCCTGGCTTGAG 0.378000 46 17 0 0 1 0 0 MTMR14 64419 broad.mit.edu 37 3 9739402 9739402 + Missense_Mutation SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:9739402G>C uc003brz.3 + 17 1772 c.1621G>C c.(1621-1623)Gac>Cac p.D541H MTMR14_uc003bsa.3_Intron|MTMR14_uc003bsb.3_Intron|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_Intron NM_001077525 NP_001070993 Q8NCE2 MTMRE_HUMAN Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA. 541 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) CAGATCAGTGGACCATCCCCT 0.612000 125 73 0 0 1 0 0 MORN5 254956 broad.mit.edu 37 9 124929074 124929074 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:124929074C>T uc011lyn.2 + 1 137 c.75C>T c.(73-75)ctC>ctT p.L25L MORN5_uc011lyo.1_Silent_p.L25L|MORN5_uc004blw.2_Silent_p.L25L NM_198469 NP_940871 Q5VZ52 MORN5_HUMAN Homo sapiens MORN repeat containing 5 (MORN5), mRNA. 25 endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 9 AGTACATCCTCCCTACCGAAA 0.527000 21 8 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43579648 43579648 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:43579648C>T uc002ovr.3 - 2 739 c.567G>A c.(565-567)atG>atA p.M189I PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 189 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) ACCTATGAGTCATAGGGAGGC 0.483000 182 122 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73617306 73617306 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:73617306G>A uc002avp.3 - 5 2962 c.1968C>T c.(1966-1968)tcC>tcT p.S656S NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA. 656 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) CTCCAAAGTAGGAGCCGTCGG 0.632000 16 9 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173567119 173567119 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:173567119G>A uc001giz.2 - 3 704 c.281C>T c.(280-282)tCt>tTt p.S94F SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 94 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TGAAAAGTAAGAATAAAGTGA 0.308000 31 25 0 0 1 0 0 STRN 6801 broad.mit.edu 37 2 37105146 37105146 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:37105146G>A uc002rpn.3 - 9 1220 c.1211C>T c.(1210-1212)tCt>tTt p.S404F STRN_uc010ezx.3_Missense_Mutation_p.S367F NM_003162 NP_003153 O43815 STRN_HUMAN Homo sapiens striatin, calmodulin binding protein (STRN), mRNA. 404 Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) CTTTCCAGAAGAAGGAGGAAA 0.433000 115 48 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102183018 102183018 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:102183018G>A uc003dvt.1 + 6 832 c.732G>A c.(730-732)tgG>tgA p.W244* ZPLD1_uc003dvs.1_Nonsense_Mutation_p.W228*|ZPLD1_uc011bhg.1_Nonsense_Mutation_p.W228* NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA. 228 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CTTTCAGATGGAATGTTTTAA 0.318000 57 28 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50256544 50256544 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:50256544G>A uc001jhf.2 - 5 783 c.754C>T c.(754-756)Cct>Tct p.P252S NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA. 252 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 ACTGCGGGAGGAATGTCAGGC 0.527000 65 19 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7683569 7683569 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:7683569C>T uc002giu.1 + 35 5831 c.5817C>T c.(5815-5817)atC>atT p.I1939I NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1939 AAA 1 (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) TTGCAGAAATCATTCTCTTTG 0.468000 141 52 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27311744 27311744 + Missense_Mutation SNP C T T rs140923137 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:27311744C>T uc003xfn.2 + 33 3477 c.2669C>T c.(2668-2670)gCc>gTc p.A890V PTK2B_uc022ate.1_Missense_Mutation_p.A890V|PTK2B_uc003xfp.2_Missense_Mutation_p.A890V|PTK2B_uc003xfq.2_Missense_Mutation_p.A848V NM_173174 NP_775268 Q14289 FAK2_HUMAN Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA. 890 Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity). apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CTGGTGCGGGCCGTGCTGGAG 0.637000 11 22 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160061526 160061526 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:160061526C>T uc003lym.1 - 11 2063 c.1216G>A c.(1216-1218)Gat>Aat p.D406N ATP10B_uc003lyp.2_Missense_Mutation_p.D406N|ATP10B_uc011deg.1_Missense_Mutation_p.D450N|ATP10B_uc003lyn.3_5'UTR|ATP10B_uc003lyo.2_Missense_Mutation_p.D378N NM_025153 NP_079429 O94823 AT10B_HUMAN Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA. 406 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTCTCTTCATCATACAGGTCA 0.493000 61 33 0 0 1 0 0 ZNF195 7748 broad.mit.edu 37 11 3380510 3380510 + Silent SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:3380510T>C uc001lxt.3 - 5 1910 c.1728A>G c.(1726-1728)aaA>aaG p.K576K ZNF195_uc010qxr.2_Silent_p.K557K|ZNF195_uc009ydz.3_Silent_p.K531K|ZNF195_uc001lxu.3_Silent_p.K508K|ZNF195_uc001lxv.3_Silent_p.K553K|ZNF195_uc021qck.1_Silent_p.K508K|ZNF195_uc001lxs.3_Silent_p.K504K NM_001130520 NP_001123992 O14628 ZN195_HUMAN Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA. 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) ATTTGTAGGGTTTCTCTCCAG 0.393000 91 7 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57925811 57925811 + Splice_Site SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:57925811G>A uc002aei.3 + 8 936 c.805_splice c.e8-1 p.E269_splice GCOM1_uc002aej.3_Splice_Site_p.E269_splice|GCOM1_uc002aek.3_Splice_Site|GCOM1_uc002ael.3_Splice_Site|GCOM1_uc002aem.3_Splice_Site_p.E269_splice|GCOM1_uc002aep.3_Splice_Site|GCOM1_uc010bfx.3_Splice_Site|GCOM1_uc002aeq.3_Splice_Site|GCOM1_uc002aen.3_Splice_Site|GCOM1_uc010bfy.3_Splice_Site|GCOM1_uc002aeo.3_Splice_Site_p.E269_splice NM_001018100 NP_001018110 P0CAP1 GCOM1_HUMAN Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA. 269 intracellular signal transduction I band|extrinsic to internal side of plasma membrane endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 TCTTTTGCAGGAAGAAACCAA 0.463000 48 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179506986 179506986 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179506986C>T uc021vsy.1 - 167 33057 c.32832G>A c.(32830-32832)aaG>aaA p.K10944K MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K4639K|TTN_uc021vta.1_Silent_p.K4572K|TTN_uc021vtb.1_Silent_p.K4447K|TTN_uc010fre.1_Silent_p.K822K|TTN_uc002umw.1_Intron|TTN_uc002umx.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11871 Glu-rich.|Pro-rich. 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) CAACTTCTTCCTTTGGTTCAG 0.313000 5 4 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15795656 15795656 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:15795656G>A uc002nbl.3 + 7 1068 c.949G>A c.(949-951)Gat>Aat p.D317N NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GTCAGATGAGGATATAAGAGC 0.498000 47 20 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48157688 48157688 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:48157688C>T uc001ngp.4 + 8 2068 c.1713C>T c.(1711-1713)taC>taT p.Y571Y PTPRJ_uc010rhr.1_Silent_p.Y16Y NM_002843 NP_002834 Q12913 PTPRJ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA. 571 Fibronectin type-III 6. contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 AGTATGTCTACCATTTAGTCA 0.512000 35 13 0 0 1 0 0 VSIG10 54621 broad.mit.edu 37 12 118506341 118506341 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:118506341C>T uc001tws.3 - 7 1742 c.1408G>A c.(1408-1410)Gag>Aag p.E470K NM_019086 NP_061959 Q8N0Z9 VSI10_HUMAN Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA. 470 Glu-rich. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 tcctcctcctcctcctcctcc 0.463000 2 3 0 0 1 0 0 HMOX2 3163 broad.mit.edu 37 16 4557933 4557933 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:4557933G>A uc002cwr.4 + 4 731 c.424G>A c.(424-426)Ggg>Agg p.G142R HMOX2_uc010bts.3_Missense_Mutation_p.G142R|HMOX2_uc002cwq.4_Missense_Mutation_p.G142R|HMOX2_uc010btt.3_Missense_Mutation_p.G142R|HMOX2_uc002cwt.3_Missense_Mutation_p.G142R NM_001127204 NP_002125 P30519 HMOX2_HUMAN Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 1, mRNA. 142 cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport endoplasmic reticulum membrane|microsome|plasma membrane electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) CCACTACATAGGGCAGAACGA 0.597000 28 23 0 0 1 0 0 FAM55C 91775 broad.mit.edu 37 3 101520721 101520721 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:101520721C>T uc003dvn.3 + 4 1373 c.736C>T c.(736-738)Ccc>Tcc p.P246S FAM55C_uc010hpn.3_Missense_Mutation_p.P246S NM_145037 NP_659474 Q969Y0 FA55C_HUMAN Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA. 246 extracellular region breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 32 CACTGGGGAGCCCTGGTTCTG 0.493000 51 25 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582922 179582923 + Missense_Mutation DNP CC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179582922_179582923CC>TT uc021vsy.1 - 82 21303_21304 c.21078_21079GG>AA c.(21076-21081)ctggaa>ctAAaa p.E7027K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3688K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7954 Ig-like 52. 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) TCCACATGTTCCAGAGGTTCAA 0.396000 26 17 0 0 1 0 0 GPRC5D 55507 broad.mit.edu 37 12 13102787 13102787 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:13102787G>A uc010shp.2 - 0 532 c.532C>T c.(532-534)Ctc>Ttc p.L178F NM_018654 NP_061124 Q9NZD1 GPC5D_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member D (GPRC5D), mRNA. 178 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) ATCAGGAAGAGGACATAGACC 0.488000 28 17 0 0 1 0 0 GPRIN1 114787 broad.mit.edu 37 5 176025340 176025340 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:176025340G>A uc003meo.1 - 1 1671 c.1496C>T c.(1495-1497)tCc>tTc p.S499F GPRIN1_uc021yif.1_Missense_Mutation_p.S499F NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA. 499 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTCCCCAAGGACCTGGGATC 0.552000 43 23 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16918765 16918765 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:16918765G>A uc002neu.4 + 17 4527 c.4105G>A c.(4105-4107)Ggg>Agg p.G1369R NWD1_uc002net.4_Missense_Mutation_p.G1234R|NWD1_uc002nev.4_Missense_Mutation_p.G1163R|NWD1_uc021uqg.1_Missense_Mutation_p.G1234R NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 1369 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CATGACCAATGGGGACCTCTT 0.562000 113 55 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102900995 102900995 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:102900995C>T uc001ylw.2 + 8 2067 c.1841C>T c.(1840-1842)cCc>cTc p.P614L TECPR2_uc010awl.3_Missense_Mutation_p.P614L|TECPR2_uc010txx.2_Intron NM_014844 NP_055659 O15040 TCPR2_HUMAN Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA. 614 protein binding p.L613V(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 ACACAGTTACCCTTCCAAGAA 0.552000 18 14 0 0 1 0 0 MYBL2 4605 broad.mit.edu 37 20 42338659 42338659 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:42338659C>T uc002xlb.1 + 9 1777 c.1562C>T c.(1561-1563)cCg>cTg p.P521L MYBL2_uc010zwj.1_Missense_Mutation_p.P497L NM_002466 NP_002457 P10244 MYBB_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA. 521 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ACGCCAACCCCGTTCAAGAAC 0.597000 165 85 0 0 1 0 0 THAP3 90326 broad.mit.edu 37 1 6688564 6688564 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:6688564C>T uc001aoc.3 + 2 239 c.80C>T c.(79-81)cCg>cTg p.P27L THAP3_uc001aod.3_Missense_Mutation_p.P27L|THAP3_uc001aoe.2_Missense_Mutation_p.P27L NM_001195753 NP_001182682 Q8WTV1 THAP3_HUMAN Homo sapiens THAP domain containing, apoptosis associated protein 3 (THAP3), transcript variant 3, mRNA. 27 DNA binding|metal ion binding breast(1)|cervix(1)|large_intestine(1)|prostate(1) 4 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CTTAGGTTTCCGTTCAGCCGC 0.597000 15 8 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57347201 57347201 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:57347201G>A uc001cyo.2 + 4 680 c.548G>A c.(547-549)gGg>gAg p.G183E NM_000562 NP_000553 P07357 CO8A_HUMAN Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA. 183 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GTATACAATGGGGAATGGAGG 0.463000 78 29 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178410006 178410006 + Missense_Mutation SNP C T T rs62638625 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:178410006C>T uc003mjr.3 - 8 2520 c.2341G>A c.(2341-2343)Gag>Aag p.E781K GRM6_uc003mjq.3_Missense_Mutation_p.E184K NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 781 E -> K (in CSNB1B). detection of visible light|visual perception integral to plasma membrane p.N780N(1) NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GGCTTGGCCTCGTTGAAGGTC 0.582000 48 29 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55033569 55033569 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:55033569C>T uc002xxp.2 + 6 2352 c.2127C>T c.(2125-2127)gtC>gtT p.V709V CASS4_uc010zze.1_Silent_p.V655V|CASS4_uc002xxr.2_Silent_p.V709V|CASS4_uc010gio.2_Silent_p.V272V NM_001164116 NP_065089 Q9NQ75 CASS4_HUMAN Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA. 709 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GCAAGCTGGTCATCATGGTGG 0.617000 75 38 0 0 1 0 0 NEDD9 4739 broad.mit.edu 37 6 11191209 11191209 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:11191209G>A uc003mzv.2 - 4 1060 c.893C>T c.(892-894)tCc>tTc p.S298F NEDD9_uc010joz.2_Missense_Mutation_p.S298F|NEDD9_uc003mzw.3_Missense_Mutation_p.S152F NM_006403 NP_006394 Q14511 CASL_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA. 298 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) GTGATTCGGGGACAGGCTCTG 0.572000 57 47 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91714867 91714867 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:91714867C>T uc003ulg.3 + 35 9116 c.8891C>T c.(8890-8892)cCc>cTc p.P2964L AKAP9_uc003ulf.3_Missense_Mutation_p.P2956L|AKAP9_uc003uli.3_Missense_Mutation_p.P2587L|AKAP9_uc003ulj.3_Missense_Mutation_p.P734L|AKAP9_uc003ulk.3_Missense_Mutation_p.P239L NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 2968 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACTGAGTCTCCCTATAGTGAT 0.418000 T BRAF papillary thyroid 34 14 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282627 69282627 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:69282627G>A uc004dxu.1 + 0 287 c.253G>A c.(253-255)Gaa>Aaa p.E85K NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN Homo sapiens OTU domain containing 6A (OTUD6A), mRNA. 85 autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 GATGAATCTGGAAAACCGGCC 0.567000 2 7 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68274262 68274262 + Missense_Mutation SNP A C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:68274262A>C uc001xka.2 - 4 878 c.739T>G c.(739-741)Tgc>Ggc p.C247G ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.C247G|ZFYVE26_uc010tta.2_Missense_Mutation_p.C247G NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA. 247 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) TCGGTCCTGCAGGCCTCTAGT 0.632000 20 7 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54798505 54798505 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:54798505C>T uc001sga.3 - 12 1467 c.1399G>A c.(1399-1401)Gat>Aat p.D467N ITGA5_uc010sow.1_Non-coding_Transcript NM_002205 NP_002196 P08648 ITA5_HUMAN Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA. 467 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 CCATTGCCATCCAGGTCTCGG 0.572000 OREG0021554 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 25 0 0 1 0 0 FIBP 9158 broad.mit.edu 37 11 65651878 65651878 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:65651878G>A uc001ogd.3 - 8 1131 c.1010C>T c.(1009-1011)tCc>tTc p.S337F FIBP_uc001oge.3_Missense_Mutation_p.S330F NM_198897 NP_942600 O43427 FIBP_HUMAN Homo sapiens fibroblast growth factor (acidic) intracellular binding protein (FIBP), transcript variant 1, mRNA. 337 fibroblast growth factor receptor signaling pathway endomembrane system|membrane|microsome|mitochondrion|nucleus fibroblast growth factor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 10 READ - Rectum adenocarcinoma(159;0.166) GCCATCGAGGGAGTGGACAGA 0.617000 OREG0021089 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 13 0 0 1 0 0 AFMID 125061 broad.mit.edu 37 17 76201782 76201782 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:76201782C>T uc002juz.3 + 8 797 c.743C>T c.(742-744)tCc>tTc p.S248F AFMID_uc002jva.3_Missense_Mutation_p.S248F|AFMID_uc002jvb.3_Intron NM_001145526 NP_001138998 Q63HM1 AFMID_HUMAN Homo sapiens arylformamidase (AFMID), transcript variant 1, mRNA. 248 cytosol|nucleus arylformamidase activity autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1) 19 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) CAGTTCGACTCCCCCGAATTC 0.607000 34 19 0 0 1 0 0 MMP19 4327 broad.mit.edu 37 12 56230884 56230884 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:56230884G>A uc001sib.3 - 8 1584 c.1463C>T c.(1462-1464)cCc>cTc p.P488L MMP19_uc001sia.3_Missense_Mutation_p.P202L|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_3'UTR NM_002429 NP_002420 Q99542 MMP19_HUMAN Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA. 488 P -> T (in dbSNP:rs17118042). angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 CGTACCTGAGGGAGTGGTATT 0.498000 165 83 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50946101 50946101 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:50946101G>A uc009xog.3 - 17 2524 c.2490C>T c.(2488-2490)ttC>ttT p.F830F OGDHL_uc001jie.3_Silent_p.F803F|OGDHL_uc010qgt.2_Silent_p.F746F|OGDHL_uc010qgu.2_Silent_p.F594F NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 803 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R829R(2) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGCTCACCTCGAAGTCCTTGG 0.612000 137 84 0 0 1 0 0 FOXK1 221937 broad.mit.edu 37 7 4794954 4794954 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:4794954G>A uc003snc.1 + 3 1000 c.990G>A c.(988-990)ggG>ggA p.G330G FOXK1_uc003sna.1_Silent_p.G167G|FOXK1_uc003snb.1_3'UTR NM_001037165 NP_001032242 P85037 FOXK1_HUMAN Homo sapiens forkhead box K1 (FOXK1), mRNA. 330 cell differentiation|embryo development|muscle 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|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.S329N(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) CCCTGAGCGGGATCTACGCCC 0.642000 40 36 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20295638 20295638 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20295638G>A uc010tkv.2 + 0 31 c.31G>A c.(31-33)Gaa>Aaa p.E11K NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGTGATAAGAGAATTCATCCT 0.388000 143 50 0 0 1 0 0 POGZ 23126 broad.mit.edu 37 1 151377497 151377497 + Silent SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:151377497T>A uc001eyd.2 - 18 4329 c.4014A>T c.(4012-4014)tcA>tcT p.S1338S POGZ_uc021oyq.1_Silent_p.S1285S|POGZ_uc010pdb.2_Silent_p.S1329S|POGZ_uc010pdc.2_Silent_p.S1276S|POGZ_uc009wmv.2_Silent_p.S1243S|POGZ_uc001eyf.2_Silent_p.S1294S|POGZ_uc010pdd.2_Silent_p.S829S NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA. 1338 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TTCTTGTAGGTGAGTTAATGT 0.537000 OREG0003905 type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 46 17 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111945034 111945034 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:111945034G>A uc004bdz.1 - 23 2757 c.2462C>T c.(2461-2463)aCt>aTt p.T821I NM_019114 NP_061987 Q9H329 E41LB_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA. 821 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton p.D820D(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGTGGTGAAAGTATCAGGAAA 0.423000 97 38 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 167760287 167760287 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:167760287G>A uc002udx.3 + 1 384 c.295G>A c.(295-297)Gat>Aat p.D99N XIRP2_uc010fpn.3_Missense_Mutation_p.D99N|XIRP2_uc010fpo.3_Missense_Mutation_p.D99N NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GCTGAAGGAGGATTCCCTGAG 0.512000 36 14 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149520459 149520459 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:149520459C>T uc010lpk.3 + 91 13268 c.13268C>T c.(13267-13269)cCc>cTc p.P4423L SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 4426 cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGCACGCCTCCCTTTGAGTTC 0.662000 179 33 0 0 1 0 0 NEXN 91624 broad.mit.edu 37 1 78392164 78392164 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:78392164G>A uc001dic.4 + 6 852 c.555G>A c.(553-555)atG>atA p.M185I NEXN_uc001dia.3_Missense_Mutation_p.M171I|NEXN_uc009wcb.1_Missense_Mutation_p.M107I|NEXN_uc001dib.4_Missense_Mutation_p.M121I|NEXN_uc001did.1_Missense_Mutation_p.M95I|NEXN_uc001dif.1_Missense_Mutation_p.M77I NM_144573 NP_653174 Q0ZGT2 NEXN_HUMAN Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA. 185 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization Z disc|cytoskeleton actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) CTGGAAAAATGAAAAAGAATT 0.308000 38 8 0 0 1 0 0 GFRA3 2676 broad.mit.edu 37 5 137600165 137600165 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:137600165G>A uc003lcn.3 - 1 304 c.164C>T c.(163-165)cCc>cTc p.P55L GFRA3_uc003lco.3_Missense_Mutation_p.P55L NM_001496 NP_001487 O60609 GFRA3_HUMAN Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA. 55 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) ACTGCAGGTGGGATCAGCCTG 0.597000 28 18 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68170430 68170430 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:68170430G>A uc003xxo.2 - 15 2721 c.2331C>T c.(2329-2331)ttC>ttT p.F777F ARFGEF1_uc003xxl.1_Silent_p.F231F NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA. 777 SEC7. exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding p.F777F(2) breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GGGCTGAAACGAAGTCTTTTC 0.383000 12 43 0 0 1 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35121290 35121290 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:35121290G>A uc003teq.1 - 21 2423 c.1316C>T c.(1315-1317)cCc>cTc p.P439L DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA. GCTACATAAGGGAGGGTTAGC 0.423000 17 8 0 0 1 0 0 SPECC1L 23384 broad.mit.edu 37 22 24718051 24718051 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:24718051C>T uc002zzw.3 + 4 1406 c.1103C>T c.(1102-1104)tCc>tTc p.S368F SPECC1L_uc002zzv.4_Missense_Mutation_p.S368F|SPECC1L_uc011ajq.2_Missense_Mutation_p.S368F|SPECC1L_uc021wne.1_Non-coding_Transcript NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA. 368 cell cycle|cell division p.S368F(2) breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 GCACCATCCTCCTCAGAGTCG 0.572000 34 38 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121379428 121379428 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:121379428G>A uc003yox.3 + 45 5361 c.5096G>A c.(5095-5097)gGa>gAa p.G1699E COL14A1_uc003yoz.3_Missense_Mutation_p.G664E NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1699 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGTATCAAAGGAGAAAAAGGA 0.368000 9 30 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119866561 119866561 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:119866561G>A uc001txe.3 + 1 629 c.164G>A c.(163-165)cGa>cAa p.R55Q AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 55 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GACCTTATACGAAGCCGGTGA 0.478000 13 3 0 0 1 0 0 KLRC1 3821 broad.mit.edu 37 12 10600186 10600186 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:10600186G>A uc001qyl.3 - 5 749 c.535C>T c.(535-537)Cgt>Tgt p.R179C KLRC1_uc009zhm.2_Missense_Mutation_p.R179C|KLRC1_uc001qym.3_Missense_Mutation_p.R161C|KLRC1_uc001qyn.3_Missense_Mutation_p.R179C|KLRC1_uc001qyo.3_Missense_Mutation_p.R161C NM_002259 NP_998823 P26715 NKG2A_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA. 179 C-type lectin. cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 CTGCTGTTACGAAACACACCA 0.308000 61 30 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43709740 43709740 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:43709740C>T uc004ada.2 + 1 586 c.176C>T c.(175-177)tCa>tTa p.S59L CNTNAP3B_uc004acz.2_Non-coding_Transcript NM_001201380 NP_001188309 Q96NU0 CNT3B_HUMAN Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA. 59 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CCGGGGTTTTCAAGGCTTAAT 0.473000 17 11 0 0 1 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 25593 25593 + RNA SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrGL000241.1:25593C>T uc011mgv.2 - 3 c.399G>A Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. TGTTACTGTCCACCAGATTCC 0.294000 312 28 0 0 1 0 0 ZNF30 90075 broad.mit.edu 37 19 35434348 35434348 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:35434348G>A uc010edq.1 + 4 859 c.481G>A c.(481-483)Gga>Aga p.G161R ZNF30_uc002nxf.2_Missense_Mutation_p.G79R|ZNF30_uc010edp.1_Missense_Mutation_p.G160R|ZNF30_uc010edr.1_Missense_Mutation_p.G161R NM_001099437 NP_001092908 P17039 ZNF30_HUMAN Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA. 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) CTTTAGTAATGGACATCAACT 0.378000 25 14 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7457038 7457038 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:7457038C>T uc001qsx.1 + 0 111 c.111C>T c.(109-111)gaC>gaT p.D37D NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA. 37 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 CTCTTGCTGACTTTGAAGCCA 0.483000 77 24 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51412371 51412371 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:51412371C>T uc001nhi.2 - 0 78 c.25G>A c.(25-27)Gaa>Aaa p.E9K NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA. 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) AGGACAAATTCTGTAATATTG 0.418000 13 7 0 0 1 0 0 SLC22A15 55356 broad.mit.edu 37 1 116609685 116609685 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:116609685G>A uc001egb.4 + 11 1730 c.1600G>A c.(1600-1602)Gaa>Aaa p.E534K NM_018420 NP_060890 Q8IZD6 S22AF_HUMAN Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA. 534 Poly-Glu. ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TGAGGAAGAGGAAGAATTTTA 0.428000 9 5 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935724 151935724 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:151935724G>A uc022chl.1 - 0 443 c.443C>T c.(442-444)cCt>cTt p.P148L MAGEA3_uc004fgp.3_Missense_Mutation_p.P148L NM_005362 NP_005353 P43357 MAGA3_HUMAN Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA. 148 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) GAAGATCACAGGAAAGAAATA 0.517000 18 43 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205308379 205308379 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:205308379G>A uc001hcf.1 - 3 1268 c.700C>T c.(700-702)Cgc>Tgc p.R234C KLHDC8A_uc010prg.1_Missense_Mutation_p.R121C|KLHDC8A_uc001hcg.1_Missense_Mutation_p.R234C NM_018203 NP_060673 Q8IYD2 KLD8A_HUMAN Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA. 234 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) CGGTAGAGGCGACCTTGCCGC 0.597000 26 5 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935454 30935454 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:30935454G>A uc002nsu.1 + 1 1123 c.985G>A c.(985-987)Gcc>Acc p.A329T ZNF536_uc010edd.1_Missense_Mutation_p.A329T NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.A329D(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) GGCCGAGTCGGCCCAGGGCCA 0.657000 73 50 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15807749 15807749 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:15807749G>A uc002nbl.3 + 12 1548 c.1429G>A c.(1429-1431)Gag>Aag p.E477K NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CGCCATGGCGGAGATGAAAGT 0.622000 17 5 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14284316 14284316 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:14284316G>A uc001mle.3 + 15 2320 c.2052G>A c.(2050-2052)ggG>ggA p.G684G NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA. 685 TSP type-1 5. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) AGTCATGTGGGAAAGGCCACG 0.532000 19 9 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52531719 52531719 + Missense_Mutation SNP T G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:52531719T>G uc001vfw.2 - 8 2537 c.2380A>C c.(2380-2382)Aaa>Caa p.K794Q ATP7B_uc001vfy.2_Missense_Mutation_p.K683Q|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.K632Q|ATP7B_uc010tgt.1_Missense_Mutation_p.K794Q|ATP7B_uc010tgu.1_Missense_Mutation_p.K746Q|ATP7B_uc010tgv.1_Missense_Mutation_p.K716Q|ATP7B_uc001vfv.2_Missense_Mutation_p.K66Q|ATP7B_uc010tgs.1_Missense_Mutation_p.K66Q NM_000053 NP_000044 P35670 ATP7B_HUMAN Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA. 794 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GACATGAGTTTAGCCAGGGCT 0.463000 Wilson disease 51 25 0 0 1 0 0 GLB1L3 112937 broad.mit.edu 37 11 134147705 134147705 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:134147705C>T uc009zdf.3 + 2 621 c.261C>T c.(259-261)ttC>ttT p.F87F GLB1L3_uc010scs.2_Silent_p.F87F|GLB1L3_uc010sct.2_5'UTR NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA. 87 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) GCCACAAGTTCCTGATCTTCG 0.572000 23 10 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112991476 112991476 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:112991476C>T uc003dzx.3 + 6 1508 c.887C>T c.(886-888)aCc>aTc p.T296I BOC_uc003dzy.3_Missense_Mutation_p.T296I|BOC_uc003dzz.3_Missense_Mutation_p.T296I|BOC_uc003eab.3_5'UTR NM_033254 NP_150279 Q9BWV1 BOC_HUMAN Homo sapiens Boc homolog (mouse) (BOC), mRNA. 296 Ig-like C2-type 3. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) GACTCAGGCACCTACCGCTGC 0.607000 30 29 0 0 1 0 0 KLF3 51274 broad.mit.edu 37 4 38690577 38690577 + Silent SNP C T T rs140456976 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:38690577C>T uc003gth.4 + 2 761 c.429C>T c.(427-429)ccC>ccT p.P143P KLF3_uc003gtg.2_Silent_p.P143P NM_016531 NP_057615 P57682 KLF3_HUMAN Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA. 143 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 GGATCCTGCCCGTCATCCAGC 0.617000 31 23 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13814899 13814899 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13814899G>A uc003jfd.2 - 42 7087 c.7045C>T c.(7045-7047)Ctg>Ttg p.L2349L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2349 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.L2349L(2) 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) ACAGAATTCAGATTTTCAATC 0.393000 Kartagener syndrome 39 13 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44670039 44670039 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:44670039G>A uc010zxl.1 + 7 1071 c.995G>A c.(994-996)gGa>gAa p.G332E SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.G309E NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 332 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCTTGGGAAGGAAATGAGACG 0.552000 50 19 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144946973 144946973 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:144946973C>T uc003zaa.1 - 0 462 c.449G>A c.(448-450)tGg>tAg p.W150* NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 150 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GACCTCCAGCCAGCTCTGCCC 0.697000 5 25 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11630129 11630129 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:11630129C>T uc021zzo.1 - 3 1663 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K THSD7A_uc021zzn.1_Missense_Mutation_p.E471K NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 471 TSP type-1 4. integral to membrane p.E471K(2) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AGGAGGTTTTCGTTGGCCTGC 0.522000 HNSCC(18;0.044) 37 9 0 0 1 0 0 LIPH 200879 broad.mit.edu 37 3 185232278 185232278 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:185232278C>T uc003fpm.3 - 7 1124 c.1014G>A c.(1012-1014)tgG>tgA p.W338* LIPH_uc010hyh.3_Nonsense_Mutation_p.W304* NM_139248 NP_640341 Q8WWY8 LIPH_HUMAN Homo sapiens lipase, member H (LIPH), mRNA. 338 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity p.W338L(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CATTCTTGTTCCATGTTATAA 0.393000 51 18 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43440216 43440216 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:43440216G>A uc002lbm.3 - 39 6962 c.6862C>T c.(6862-6864)Ctt>Ttt p.L2288F EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.L842F|EPG5_uc002lbn.2_Missense_Mutation_p.L1163F NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 2288 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CTGCCCCGAAGGAACTCTGCT 0.567000 97 30 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202589065 202589065 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:202589065C>T uc002uyo.3 - 20 3821 c.3465G>A c.(3463-3465)tgG>tgA p.W1155* ALS2_uc002uyp.4_Nonsense_Mutation_p.W1155*|ALS2_uc010ftl.3_Non-coding_Transcript NM_020919 NP_065970 Q96Q42 ALS2_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA. 1155 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TATCCATTACCCACTGGCCAA 0.408000 53 31 0 0 1 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118215301 118215301 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:118215301G>A uc001lcl.4 + 4 625 c.524G>A c.(523-525)gGg>gAg p.G175E NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA. 175 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) CACCTGGCTGGGGAAGCTGGG 0.423000 47 19 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 418940 418940 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:418940C>T uc001lpi.2 - 20 2069 c.1984G>A c.(1984-1986)Gac>Aac p.D662N SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.D355N|ANO9_uc010qvv.1_Missense_Mutation_p.D518N NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN Homo sapiens anoctamin 9 (ANO9), mRNA. 662 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 TCCTGGAAGTCCTTGGTGTGG 0.617000 120 71 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121340980 121340980 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:121340980C>T uc003eeg.2 + 2 914 c.704C>T c.(703-705)tCa>tTa p.S235L NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 235 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) ACAAATTCATCAGCGAGCTGT 0.463000 17 12 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77398153 77398153 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:77398153C>T uc002ffc.4 - 4 1323 c.904G>A c.(904-906)Gac>Aac p.D302N ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 302 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.A301A(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ATTTTCTTGTCTGCCACCACG 0.478000 50 38 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59925190 59925190 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:59925190C>T uc002lil.3 + 13 2121 c.1906C>T c.(1906-1908)Cgt>Tgt p.R636C KIAA1468_uc002lik.1_Missense_Mutation_p.R636C|KIAA1468_uc010xel.2_Missense_Mutation_p.R636C|KIAA1468_uc002lim.3_Missense_Mutation_p.R280C NM_020854 NP_065905 Q9P260 K1468_HUMAN Homo sapiens KIAA1468 (KIAA1468), mRNA. 636 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) GAAAGAAATCCGTAGCTCCTT 0.333000 48 12 0 0 1 0 0 CST4 1472 broad.mit.edu 37 20 23669535 23669535 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:23669535C>T uc002wto.1 - 0 128 c.72G>A c.(70-72)aaG>aaA p.K24K NM_001899 NP_001890 P01036 CYTS_HUMAN Homo sapiens cystatin S (CST4), mRNA. 24 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) TATTCTCCTCCTTGGAGCTCG 0.572000 44 18 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142458470 142458470 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142458470C>T uc003wak.2 + 1 122 c.105C>T c.(103-105)gtC>gtT p.V35V TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 35 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) AGAATTCTGTCCCCTACCAGG 0.527000 103 101 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7188287 7188287 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:7188287C>T uc003bqm.2 + 1 942 c.668C>T c.(667-669)aCc>aTc p.T223I GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.T223I|GRM7_uc003bql.2_Missense_Mutation_p.T223I NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 223 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TATGTGTCTACCCTCGCATCG 0.527000 42 26 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155206188 155206188 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:155206188G>A uc001fjh.3 - 7 1238 c.1072C>T c.(1072-1074)Cca>Tca p.P358S GBA_uc021pau.1_Intron|GBA_uc010pfx.2_Missense_Mutation_p.P309S|GBA_uc010pfw.2_Missense_Mutation_p.P245S|GBA_uc001fjl.3_Missense_Mutation_p.P358S|GBA_uc001fjk.3_Missense_Mutation_p.P358S|GBA_uc010pfy.2_Missense_Mutation_p.P271S NM_000157 NP_001165282 P04062 GLCM_HUMAN Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA. 358 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 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) Alglucerase(DB00088)|Imiglucerase(DB00053) GCTTTGGCTGGAGCCAGAAAG 0.537000 Gaucher disease type I 31 24 0 0 1 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117982457 117982457 + Splice_Site SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:117982457C>T uc021qrd.1 + 8 875 c.584_splice c.e8-1 p.A195_splice TMPRSS4_uc009yzu.3_Splice_Site|TMPRSS4_uc021qre.1_Splice_Site_p.A190_splice|TMPRSS4_uc010rxo.2_Splice_Site_p.A193_splice|TMPRSS4_uc010rxs.2_Splice_Site_p.A155_splice|TMPRSS4_uc010rxq.2_Splice_Site_p.A48_splice|TMPRSS4_uc010rxr.2_Splice_Site_p.A170_splice|TMPRSS4_uc010rxt.2_Splice_Site_p.A170_splice NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA. 195 SRCR. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) TGTGTCCAGCCTGTGGGAAGA 0.607000 14 7 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28821586 28821586 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:28821586G>A uc002rmb.2 + 34 2477 c.2433G>A c.(2431-2433)acG>acA p.T811T PLB1_uc010ezj.2_Silent_p.T800T NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 811 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CCAATGACACGAATGCATTCC 0.542000 118 43 0 0 1 0 0 ZNF414 84330 broad.mit.edu 37 19 8576415 8576415 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:8576415C>T uc002mke.4 - 5 998 c.880G>A c.(880-882)Ggc>Agc p.G294S ZNF414_uc010dwf.3_Missense_Mutation_p.G283S|ZNF414_uc002mkf.3_Missense_Mutation_p.G294S NM_001146175 NP_001139647 Q96IQ9 ZN414_HUMAN Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA. 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(2) 2 GGGCTGCTGCCAGCACCTGCG 0.687000 8 3 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807098 143807098 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:143807098G>A uc011ktz.2 + 0 423 c.423G>A c.(421-423)acG>acA p.T141T NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T141T(2) endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GAGTGTGCACGATCCTGGTTC 0.522000 118 28 0 0 1 0 0 METTL2A 339175 broad.mit.edu 37 17 60503872 60503872 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:60503872G>A uc002izv.2 + 2 433 c.415G>A c.(415-417)Gaa>Aaa p.E139K METTL2A_uc002izw.3_Missense_Mutation_p.E3K NM_181725 NP_859076 Q96IZ6 MTL2A_HUMAN Homo sapiens methyltransferase like 2A (METTL2A), mRNA. 139 methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2) 6 BRCA - Breast invasive adenocarcinoma(2;1.08e-10) AATAATGGAAGAACAGCACAA 0.388000 23 12 0 0 1 0 0 ZFP112 7771 broad.mit.edu 37 19 44832440 44832440 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:44832440C>T uc010xwy.2 - 4 2057 c.1939G>A c.(1939-1941)Gtc>Atc p.V647I ZFP112_uc010ejj.3_Missense_Mutation_p.V630I|ZFP112_uc002ozc.4_Missense_Mutation_p.V624I|ZFP112_uc010xwz.2_Missense_Mutation_p.V629I NM_013380 NP_037512 Q9UJU3 ZF112_HUMAN Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA. 630 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3) 41 CCAGTGTGGACTCTCTGATGG 0.463000 108 64 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55739228 55739228 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:55739228G>A uc003pcq.3 - 0 1148 c.436C>T c.(436-438)Cat>Tat p.H146Y BMP5_uc011dxf.2_Missense_Mutation_p.H146Y NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 146 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) TTGGTATCATGGAGGCTGGCT 0.448000 56 82 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965039 88965039 + Missense_Mutation SNP A C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:88965039A>C uc011khi.2 + 3 3281 c.2743A>C c.(2743-2745)Act>Cct p.T915P NM_181646 NP_857597 A4D1E1 Z804B_HUMAN Homo sapiens zinc finger protein 804B (ZNF804B), mRNA. 915 T -> I (in dbSNP:rs56948780). intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGAATCAAACACTGCAGAAGG 0.433000 HNSCC(36;0.09) 51 39 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26918806 26918806 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:26918806G>A uc002hbq.3 - 3 1439 c.1347C>T c.(1345-1347)tcC>tcT p.S449S SPAG5_uc010waq.1_Intron NM_006461 NP_006452 Q96R06 SPAG5_HUMAN Homo sapiens sperm associated antigen 5 (SPAG5), mRNA. 449 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) GAAGCTGGCGGGAGAGAACCT 0.552000 79 3 0 0 1 0 0 ACTR1A 10121 broad.mit.edu 37 10 104242787 104242787 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:104242787G>A uc001kvv.3 - 6 839 c.731C>T c.(730-732)cCt>cTt p.P244L ACTR1A_uc010qqn.2_Missense_Mutation_p.P170L|ACTR1A_uc010qqo.2_Missense_Mutation_p.P197L NM_005736 NP_005727 P61163 ACTZ_HUMAN Homo sapiens ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) (ACTR1A), mRNA. 244 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 13 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) GCTGCCATCAGGCAGGTAGTA 0.527000 99 48 0 0 1 0 0 B4GALT5 9334 broad.mit.edu 37 20 48263558 48263558 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:48263558G>A uc002xuu.4 - 2 502 c.308C>T c.(307-309)cCt>cTt p.P103L NM_004776 NP_004767 O43286 B4GT5_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 (B4GALT5), mRNA. 103 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) GAAGTCTTCAGGAAGAAATGT 0.438000 91 41 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5068609 5068609 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:5068609C>T uc010qyv.2 + 0 854 c.854C>T c.(853-855)cCa>cTa p.P285L NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGATTATCCCACCCTCTCTC 0.383000 40 22 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838865 16838865 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:16838865G>A uc010rcu.1 - 10 1363 c.1348C>T c.(1348-1350)Ccc>Tcc p.P450S PLEKHA7_uc001mmo.3_Missense_Mutation_p.P450S|PLEKHA7_uc010rcv.2_Missense_Mutation_p.P24S|PLEKHA7_uc001mmn.3_Missense_Mutation_p.P158S NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA. 450 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TGGTCCAAGGGAAGACTGAGG 0.572000 23 20 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12383821 12383821 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:12383821C>T uc010xmj.2 - 4 1598 c.1393G>A c.(1393-1395)Gga>Aga p.G465R ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Missense_Mutation_p.G417R NM_001164276 NP_001157748 P15621 ZNF44_HUMAN Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA. 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) GGTTTCTCTCCAGTGTGAGTC 0.448000 41 14 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65234520 65234520 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:65234520G>A uc001xht.3 - 28 6131 c.6080C>T c.(6079-6081)gCc>gTc p.A2027V SPTB_uc001xhr.3_Missense_Mutation_p.A2027V|SPTB_uc001xhs.3_Missense_Mutation_p.A2027V|SPTB_uc001xhu.3_Missense_Mutation_p.A2027V|SPTB_uc010aqi.3_Missense_Mutation_p.A688V NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 2027 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GGGCTCCTGGGCAATCAGCCA 0.622000 36 22 0 0 1 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033251 82033251 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:82033251G>A uc002fgu.3 - 2 775 c.647C>T c.(646-648)cCc>cTc p.P216L NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA. 216 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 CAGGCTCCTGGGGTCCCCGTA 0.552000 94 38 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047148 9047148 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9047148G>A uc002mkp.3 - 4 34687 c.34483C>T c.(34483-34485)Cct>Tct p.P11495S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11497 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 GTCTCTGCAGGATGAATGAGC 0.512000 66 35 0 0 1 0 0 ZNF417 147687 broad.mit.edu 37 19 58420091 58420091 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:58420091G>A uc002qqq.3 - 2 1754 c.1555C>T c.(1555-1557)Cct>Tct p.P519S ZNF417_uc010yhm.2_Missense_Mutation_p.P476S|ZNF417_uc002qqr.3_Missense_Mutation_p.P518S NM_152475 NP_689688 Q8TAU3 ZN417_HUMAN Homo sapiens zinc finger protein 417 (ZNF417), mRNA. 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) CACTTATAAGGCTTTTGTCCA 0.403000 66 22 0 0 1 0 0 ZNF440 126070 broad.mit.edu 37 19 11942924 11942924 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:11942924C>T uc002msp.1 + 3 1089 c.933C>T c.(931-933)ctC>ctT p.L311L ZNF440_uc021upk.1_5'Flank NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN Homo sapiens zinc finger protein 440 (ZNF440), mRNA. 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAAAAATCTCTATGAATGTA 0.388000 60 33 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48335321 48335322 + Missense_Mutation DNP CC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:48335321_48335322CC>TT uc003toq.2 + 20 9004_9005 c.8980_8981CC>TT c.(8980-8982)ccg>TTg p.P2994L ABCA13_uc010kys.1_Missense_Mutation_p.P68L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 2994 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ATGGTCCTCGCCGAATCAGCTA 0.391000 39 16 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40947807 40947807 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:40947807C>T uc003jmh.3 + 7 956 c.842C>T c.(841-843)tCc>tTc p.S281F C7_uc011cpn.1_Intron NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 281 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AAGGAGCTTTCCCACCTCCCC 0.448000 28 16 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194062446 194062446 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:194062446G>A uc003fts.3 - 1 1076 c.986C>T c.(985-987)cCa>cTa p.P329L CPN2_uc021xix.1_Missense_Mutation_p.P329L NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 329 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GATGCCAGCTGGGAGGTGGGT 0.572000 31 18 0 0 1 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15352118 15352118 + RNA SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:15352118C>G uc002yji.2 - 0 c.648G>C ANKRD20A11P_uc002yjj.4_Non-coding_Transcript Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA. CCTTGTGGATCTTCTGCAGTT 0.642000 15 4 0 0 1 0 0 CRYGS 1427 broad.mit.edu 37 3 186256671 186256671 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:186256671G>A uc003fqe.3 - 2 403 c.351C>T c.(349-351)tcC>tcT p.S117S NM_017541 NP_060011 P22914 CRBS_HUMAN Homo sapiens crystallin, gamma S (CRYGS), mRNA. 117 Beta/gamma crystallin 'Greek key' 3. structural constituent of eye lens endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 11 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) GCTCCATGATGGAAGGGCAAT 0.478000 26 20 0 0 1 0 0 TMEM102 284114 broad.mit.edu 37 17 7340653 7340653 + Missense_Mutation SNP A T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:7340653A>T uc002ggx.1 + 2 1628 c.1355A>T c.(1354-1356)cAc>cTc p.H452L SPEM1_uc010vtw.1_Intron|TMEM102_uc002ggy.2_Missense_Mutation_p.H452L|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.3_5'Flank|FGF11_uc002ggz.3_5'Flank NM_178518 NP_848613 Q8N9M5 TM102_HUMAN Homo sapiens transmembrane protein 102 (TMEM102), mRNA. 452 regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding kidney(1)|lung(3)|skin(1) 5 Prostate(122;0.173) ACGTTGCCTCACTATTTTCTG 0.706000 16 4 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143853624 143853624 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:143853624C>T uc003lnm.1 + 3 1863 c.1234C>T c.(1234-1236)Cct>Tct p.P412S KCTD16_uc003lnn.1_Missense_Mutation_p.P412S NM_020768 NP_065819 Q68DU8 KCD16_HUMAN Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA. 412 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) AGATCGGTTTCCTGAGAGAAA 0.378000 55 20 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43933302 43933302 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:43933302G>A uc002xnn.2 - 2 396 c.209C>T c.(208-210)gCc>gTc p.A70V MATN4_uc002xnp.2_Missense_Mutation_p.A70V|MATN4_uc002xno.2_Missense_Mutation_p.A70V|MATN4_uc010zwr.1_Missense_Mutation_p.A18V|MATN4_uc002xnr.1_Missense_Mutation_p.A70V|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA. 70 VWFA 1. extracellular region protein binding p.N69fs*3(2) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) AACGCGCGTGGCGTTGGGACC 0.642000 19 10 0 0 1 0 0 SPDEF 25803 broad.mit.edu 37 6 34512051 34512051 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:34512051G>A uc003ojq.2 - 1 616 c.182C>T c.(181-183)tCc>tTc p.S61F SPDEF_uc011dsq.2_Missense_Mutation_p.S61F NM_012391 NP_036523 O95238 SPDEF_HUMAN Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA. 61 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 GTCAAAGTAGGAGAGGTAGAA 0.677000 35 46 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75078455 75078455 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:75078455G>A uc001dgg.3 - 8 1258 c.1039C>T c.(1039-1041)Ccc>Tcc p.P347S CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.P141S NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 347 p.P347H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AGACTGAAGGGGAAACCATGA 0.413000 23 8 0 0 1 0 0 SLC38A11 151258 broad.mit.edu 37 2 165772482 165772482 + Splice_Site SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:165772482G>A uc002ucw.2 - 7 781 c.450_splice c.e7-1 p.I150_splice SLC38A11_uc002ucu.2_Splice_Site_p.I128_splice|SLC38A11_uc002ucv.2_Splice_Site_p.I150_splice NM_001199148 NP_001186077 Q08AI6 S38AB_HUMAN Homo sapiens solute carrier family 38, member 11 (SLC38A11), transcript variant 1, mRNA. 150 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 TCTGTTTTTGGTCTAGAAGAA 0.358000 81 40 0 0 1 0 0 POU2F3 25833 broad.mit.edu 37 11 120180188 120180188 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:120180188G>A uc021qrk.1 + 9 1001 c.967G>A c.(967-969)Gag>Aag p.E323K POU2F3_uc001pxc.3_Missense_Mutation_p.E321K|POU2F3_uc010rzk.2_Missense_Mutation_p.E275K|POU2F3_uc010rzl.2_Missense_Mutation_p.E251K|POU2F3_uc001pxe.1_Missense_Mutation_p.E106K NM_001244682 NP_001231611 Q9UKI9 PO2F3_HUMAN Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA. 321 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) GTTGTCCATGGAGAAGGAGGT 0.532000 27 20 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21529786 21529786 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:21529786C>T uc002kuq.3 + 70 9495 c.9409C>T c.(9409-9411)Ccc>Tcc p.P3137S LAMA3_uc002kur.3_Missense_Mutation_p.P3081S|LAMA3_uc002kus.4_Missense_Mutation_p.P1528S|LAMA3_uc002kut.4_Missense_Mutation_p.P1472S NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 3137 Laminin G-like 4. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGATTCAAAACCCTTGTATAC 0.473000 33 11 0 0 1 0 0 MST1P9 11223 broad.mit.edu 37 1 17085457 17085457 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:17085457C>T uc010ock.2 - 9 1234 c.1234G>A c.(1234-1236)Gat>Aat p.D412N CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 GGAGCAAAATCGTGGCAGGGT 0.617000 54 4 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28233882 28233882 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:28233882G>A uc009xky.3 - 10 1494 c.1396C>T c.(1396-1398)Caa>Taa p.Q466* ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_Nonsense_Mutation_p.Q158*|ARMC4_uc001itz.3_Nonsense_Mutation_p.Q466*|ARMC4_uc010qdu.1_Nonsense_Mutation_p.Q158* NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 466 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GTAGCTGTTTGATTTCCTCCC 0.448000 47 22 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8825195 8825195 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:8825195C>T uc002knr.2 + 14 3829 c.3687C>T c.(3685-3687)ggC>ggT p.G1229G SOGA2_uc002knq.2_Silent_p.G1188G|SOGA2_uc002kns.2_Silent_p.G569G NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA. 1539 CCAAGGGAGGCCCTCCAGAAC 0.677000 19 16 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101821817 101821817 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:101821817C>T uc003uys.4 + 10 1057 c.930C>T c.(928-930)atC>atT p.I310I CUX1_uc003uyw.3_Silent_p.I264I|CUX1_uc003uyv.3_Silent_p.I294I|CUX1_uc003uyt.3_Silent_p.I310I|CUX1_uc003uyu.3_Silent_p.I308I|CUX1_uc011kkn.2_Silent_p.I271I|CUX1_uc003uyx.4_Silent_p.I299I NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 299 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AGCGGGAGATCGCACAGCTGG 0.607000 15 6 0 0 1 0 0 HJURP 55355 broad.mit.edu 37 2 234749661 234749661 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:234749661G>A uc002vvg.3 - 7 1831 c.1765C>T c.(1765-1767)Caa>Taa p.Q589* HJURP_uc010znd.2_Nonsense_Mutation_p.Q528*|HJURP_uc010zne.2_Nonsense_Mutation_p.Q497* NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Homo sapiens Holliday junction recognition protein (HJURP), mRNA. 589 CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding p.Q589*(2) NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) CAATACTTTTGATGAAGCTTG 0.413000 45 21 0 0 1 0 0 HNRNPKP3 399881 broad.mit.edu 37 11 43284481 43284481 + RNA SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:43284481C>T uc001mxe.1 - 1 c.455G>A Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA. AAGAACAACTCCGTCAGTGGA 0.398000 14 6 0 0 1 0 0 SAMD15 161394 broad.mit.edu 37 14 77844570 77844570 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:77844570G>A uc001xtq.1 + 0 809 c.809G>A c.(808-810)aGa>aAa p.R270K TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Missense_Mutation_p.R270K NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA. 270 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AAGGAACCAAGAAAGTCTAGT 0.498000 43 19 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127753391 127753391 + Silent SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:127753391G>C uc001ljk.2 - 13 2015 c.1602C>G c.(1600-1602)gtC>gtG p.V534V ADAM12_uc010qul.1_Silent_p.V485V|ADAM12_uc001ljm.3_Silent_p.V534V|ADAM12_uc001ljn.3_Silent_p.V531V|ADAM12_uc001ljl.4_Silent_p.V531V NM_003474 NP_003465 O43184 ADA12_HUMAN Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA. 534 Cys-rich. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CCCAGAGCGTGACACACTGCT 0.607000 13 4 0 0 1 0 0 HINFP 25988 broad.mit.edu 37 11 119002249 119002249 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:119002249C>T uc001pvp.3 + 4 660 c.416C>T c.(415-417)tCc>tTc p.S139F HINFP_uc021qrj.1_Missense_Mutation_p.S139F|HINFP_uc001pvq.3_Missense_Mutation_p.S139F|HINFP_uc001pvr.3_5'UTR NM_015517 NP_945322 Q9BQA5 HINFP_HUMAN Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA. 139 DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GCACAGAATTCCTTCGACAAT 0.537000 67 29 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22476272 22476272 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:22476272C>T uc001wcu.4 + 1 306 c.208C>T c.(208-210)Ctt>Ttt p.L70F 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.L70F|TCRA_uc010tmm.2_Intron|TCRA_uc001wct.4_3'UTR RecName: Full=T-cell receptor alpha chain V region HPB-MLT; Flags: Precursor; Fragment; ATTGGTTTTCCTTATTCGTCG 0.423000 15 6 0 0 1 0 0 GALE 2582 broad.mit.edu 37 1 24122730 24122730 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:24122730C>T uc009vqo.1 - 9 1109 c.899G>A c.(898-900)cGg>cAg p.R300Q GALE_uc001bhv.1_Missense_Mutation_p.R300Q|GALE_uc001bhx.1_Missense_Mutation_p.R300Q|GALE_uc001bhz.1_Missense_Mutation_p.R226Q NM_001127621 NP_001121093 Q14376 GALE_HUMAN Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA. 300 galactose catabolic process cytosol UDP-glucose 4-epimerase activity|coenzyme binding|protein homodimerization activity endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) ATCACCTTCCCGCCGTGCCAC 0.622000 43 21 0 0 1 0 0 SUOX 6821 broad.mit.edu 37 12 56397910 56397910 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:56397910C>T uc001six.3 + 5 1063 c.737C>T c.(736-738)tCc>tTc p.S246F SUOX_uc001siy.3_Missense_Mutation_p.S246F|SUOX_uc001siz.3_Missense_Mutation_p.S246F|SUOX_uc001sja.3_Missense_Mutation_p.S246F NM_000456 NP_001027559 P51687 SUOX_HUMAN Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 246 Molybdenum-pterin domain (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) CTGTCTCTTTCCCTGGATGAC 0.517000 49 18 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120833254 120833254 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:120833254C>T uc001pxn.2 + 17 2417 c.2130C>T c.(2128-2130)atC>atT p.I710I GRIK4_uc009zav.1_Silent_p.I710I|GRIK4_uc009zaw.1_Silent_p.I710I|GRIK4_uc009zax.1_Silent_p.I710I NM_014619 NP_055434 Q16099 GRIK4_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA. 710 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) AGGAGGGAATCGCCAGGGTGT 0.527000 40 24 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126329707 126329707 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:126329707C>T uc003ifj.4 + 3 5678 c.5678C>T c.(5677-5679)cCt>cTt p.P1893L FAT4_uc011cgp.2_Missense_Mutation_p.P191L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 1893 Cadherin 18. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TTCCTGAATCCTATTACTGGG 0.378000 60 24 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13922323 13922323 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13922323C>T uc003jfd.2 - 4 595 c.553G>A c.(553-555)Gag>Aag p.E185K DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 185 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCCTCGAGCTCGCCCCAGCCA 0.572000 Kartagener syndrome 33 15 0 0 1 0 0 FCGR3B 2215 broad.mit.edu 37 1 161596163 161596163 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:161596163C>T uc009wul.3 - 3 717 c.457G>A c.(457-459)Gtg>Atg p.V153M FCGR3B_uc021pdo.1_Missense_Mutation_p.V117M NM_001244753 NP_001231682 O75015 FCG3B_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA. 117 Ig-like C2-type 2. immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCCTTGAACACCCACCGAGGG 0.552000 2 9 0 0 1 0 0 ZNF287 57336 broad.mit.edu 37 17 16456476 16456476 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:16456476A>G uc021trd.1 - 5 1598 c.980T>C c.(979-981)cTa>cCa p.L327P ZNF287_uc002gqi.2_Missense_Mutation_p.L327P NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN Homo sapiens zinc finger protein 287 (ZNF287), mRNA. 320 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) CTGTACAATTAGGTTTGAATG 0.303000 20 17 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769975 31769975 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:31769975C>T uc002nsy.4 - 1 789 c.724G>A c.(724-726)Gac>Aac p.D242N NM_020856 NP_065907 Q63HK5 TSH3_HUMAN Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA. 242 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TCATGGTTGTCGTCGCGGTAA 0.592000 135 67 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177809 7177809 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:7177809C>T uc001qsj.3 + 14 2640 c.1921C>T c.(1921-1923)Ccc>Tcc p.P641S C1S_uc001qsk.3_Missense_Mutation_p.P641S|C1S_uc001qsl.3_Missense_Mutation_p.P641S|C1S_uc009zfr.3_Missense_Mutation_p.P474S|C1S_uc009zfs.3_Non-coding_Transcript NM_201442 NP_958850 P09871 C1S_HUMAN Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA. 641 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TGTACAGGATCCCAATGACAA 0.532000 90 56 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10906979 10906979 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:10906979G>A uc002yip.1 - 23 1950 c.1582C>T c.(1582-1584)Cca>Tca p.P528S TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P510S|TPTE_uc002yir.1_Missense_Mutation_p.P490S|TPTE_uc010gkv.1_Missense_Mutation_p.P390S NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 528 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.D527N(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAATCTGATGGATAAATTCTC 0.368000 74 12 0 0 1 0 0 PDE9A 5152 broad.mit.edu 37 21 44180998 44180998 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:44180998C>T uc002zbm.3 + 12 1129 c.1066C>T c.(1066-1068)Cat>Tat p.H356Y PDE9A_uc002zbn.3_Missense_Mutation_p.H229Y|PDE9A_uc002zbo.3_Missense_Mutation_p.H303Y|PDE9A_uc002zbp.3_Missense_Mutation_p.H149Y|PDE9A_uc002zbq.3_Missense_Mutation_p.H254Y|PDE9A_uc002zbs.3_Missense_Mutation_p.H149Y|PDE9A_uc002zbr.3_Missense_Mutation_p.H149Y|PDE9A_uc002zbt.3_Missense_Mutation_p.H228Y|PDE9A_uc002zbu.3_Missense_Mutation_p.H222Y|PDE9A_uc002zbv.3_Missense_Mutation_p.H196Y|PDE9A_uc002zbw.3_Missense_Mutation_p.H139Y|PDE9A_uc002zbx.3_Missense_Mutation_p.H296Y|PDE9A_uc002zby.3_Missense_Mutation_p.H139Y|PDE9A_uc002zbz.3_Missense_Mutation_p.H248Y|PDE9A_uc002zca.3_Missense_Mutation_p.H315Y|PDE9A_uc002zcb.3_Missense_Mutation_p.H330Y|PDE9A_uc002zcc.3_Missense_Mutation_p.H255Y|PDE9A_uc002zcd.3_Missense_Mutation_p.H270Y|PDE9A_uc002zce.3_Missense_Mutation_p.H289Y|PDE9A_uc002zcf.3_Missense_Mutation_p.H149Y|PDE9A_uc002zcg.3_Missense_Mutation_p.H149Y|PDE9A_uc010gpf.1_Missense_Mutation_p.H149Y NM_002606 NP_001001585 O76083 PDE9A_HUMAN Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA. 356 Catalytic (By similarity). 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 CGATCTGGACCATCCCGGCTA 0.493000 42 19 0 0 1 0 0 FZD5 7855 broad.mit.edu 37 2 208632225 208632225 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:208632225C>T uc021vvr.1 - 0 1239 c.1239G>A c.(1237-1239)ctG>ctA p.L413L FZD5_uc002vcj.3_Silent_p.L413L NM_003468 NP_003459 Q13467 FZD5_HUMAN Homo sapiens frizzled family receptor 5 (FZD5), mRNA. 413 Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification|angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development Golgi membrane|cell projection|cell surface|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding|protein kinase binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) GCGTGCCCACCAGCAGGTAGA 0.662000 19 11 0 0 1 0 0 UBE2O 63893 broad.mit.edu 37 17 74396354 74396354 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:74396354G>A uc002jrm.4 - 7 1094 c.1029C>T c.(1027-1029)gaC>gaT p.D343D UBE2O_uc002jrn.4_Silent_p.D343D|UBE2O_uc002jrl.4_5'Flank NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA. 343 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 GCTGAGCATGGTCAAAGCATC 0.592000 36 15 0 0 1 0 0 C7orf45 136263 broad.mit.edu 37 7 129856227 129856227 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:129856227C>T uc003vpp.3 + 2 699 c.652C>T c.(652-654)Cct>Tct p.P218S NM_145268 NP_660311 Q8WWF3 CG045_HUMAN Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA. 218 integral to membrane endometrium(2)|kidney(1)|lung(6)|ovary(1) 10 Melanoma(18;0.0435) CCGACAGAAGCCTTCAGTAAC 0.428000 278 67 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187627452 187627452 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:187627452C>T uc002ups.3 + 7 2495 c.2383C>T c.(2383-2385)Ccc>Tcc p.P795S FAM171B_uc002upr.1_Missense_Mutation_p.P762S|FAM171B_uc002upt.3_Missense_Mutation_p.P264S NM_177454 NP_803237 Q6P995 F171B_HUMAN Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA. 795 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TAATACATCCCCCACTAAAAG 0.478000 14 17 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1280382 1280382 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:1280382G>A uc003jcb.1 - 3 1899 c.1841C>T c.(1840-1842)cCc>cTc p.P614L TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Missense_Mutation_p.P614L|TERT_uc003jca.1_Missense_Mutation_p.P614L|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.P66L NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 614 Reverse transcriptase. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CAGCAGGGCGGGCCTGGCTTC 0.627000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 48 31 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100393 168100393 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:168100393G>A uc002udx.3 + 8 2580 c.2491G>A c.(2491-2493)Gaa>Aaa p.E831K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E656K|XIRP2_uc010fpq.3_Missense_Mutation_p.E609K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 656 actin cytoskeleton organization cell junction actin binding p.E831K(2) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CATTGAAAAGGAAAAAATAAT 0.388000 44 30 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998105 27998105 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:27998105C>T uc004dbx.1 - 0 1462 c.1347G>A c.(1345-1347)cgG>cgA p.R449R NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA. 449 p.R449L(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CAAACTCACTCCGGGGGCCAT 0.458000 1 13 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67265175 67265175 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:67265175G>A uc002esl.3 - 16 2695 c.2583C>T c.(2581-2583)caC>caT p.H861H FHOD1_uc010ced.3_Silent_p.H668H NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA. 861 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding p.L860R(1) breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) AGCAGAGATGGTGTAGCAGTG 0.577000 46 26 0 0 1 0 0 CORO7-PAM16 100529144 broad.mit.edu 37 16 4412714 4412714 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:4412714G>A uc002cwf.3 - 14 1744 c.1301C>T c.(1300-1302)tCg>tTg p.S434L CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.S214L|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.S434L|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.S416L|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.S349L|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.S214L|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Missense_Mutation_p.S214L NM_001201479 NP_001188408 Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA. CGAGGTCAGCGAACTGGGAGG 0.667000 3 5 0 0 1 0 0 V_alpha_immunoglobulin 0 broad.mit.edu 37 14 22675745 22675745 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:22675745C>T uc001wdk.2 + 1 69 c.57C>T c.(55-57)gtC>gtT p.V19V TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.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_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 Homo sapiens mRNA for T cell receptor alpha variable 34, partial cds, clone: SEB 406. GAACAGGGGTCAGTAGCCAAG 0.438000 5 5 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24167439 24167439 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:24167439G>A uc003xdy.3 + 2 266 c.183G>A c.(181-183)atG>atA p.M61I ADAM28_uc003xdx.3_Missense_Mutation_p.M61I|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 61 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AGTATAAAATGACAATTAATG 0.279000 35 26 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160260340 160260340 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:160260340G>A uc001fvv.4 - 31 3978 c.3584C>T c.(3583-3585)cCa>cTa p.P1195L COPA_uc009wti.3_Missense_Mutation_p.P1186L NM_001098398 NP_001091868 P53621 COPA_HUMAN Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA. 1186 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCCACTGAGTGGACACTTTTC 0.463000 49 34 0 0 1 0 0 ASTL 431705 broad.mit.edu 37 2 96789926 96789926 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:96789926G>A uc010yui.2 - 8 959 c.959C>T c.(958-960)tCc>tTc p.S320F NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA. 320 proteolysis metalloendopeptidase activity|zinc ion binding p.E319*(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 GGGGCTCCTGGATTCCGCCGA 0.657000 19 12 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12577583 12577583 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:12577583A>G uc002mtv.4 - 1 246 c.85T>C c.(85-87)Tac>Cac p.Y29H ZNF709_uc002mtw.4_5'UTR|ZNF709_uc002mtx.4_Missense_Mutation_p.Y29H NM_152601 NP_689814 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 709 (ZNF709), mRNA. 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 ACATCTCTGTAGAGTTTCTTC 0.438000 68 33 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109777952 109777952 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:109777952C>T uc001dwu.2 + 6 968 c.868C>T c.(868-870)Ctg>Ttg p.L290L NM_006513 NP_006504 P49591 SYSC_HUMAN Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA. 290 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|RNA binding|protein binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) GCCGGAGGACCTGCCCATCAA 0.577000 39 31 0 0 1 0 0 CSN1S1 1446 broad.mit.edu 37 4 70810601 70810601 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:70810601C>T uc003hep.1 + 14 485 c.436C>T c.(436-438)Ccc>Tcc p.P146S CSN1S1_uc003heq.1_Missense_Mutation_p.P137S|CSN1S1_uc003her.1_Missense_Mutation_p.P138S NM_001890 NP_001881 P47710 CASA1_HUMAN Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA. 146 extracellular region protein binding|transporter activity lung(5)|prostate(1)|upper_aerodigestive_tract(1) 7 TGCTGCCTACCCCTATGCTGT 0.408000 214 94 0 0 1 0 0 OR8G2 26492 broad.mit.edu 37 11 124095962 124095962 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:124095962C>T uc010saf.2 + 0 565 c.565C>T c.(565-567)Cat>Tat p.H189Y NM_001007249 NP_001007250 Q8N0Y1 Q8N0Y1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA. 189 integral to membrane olfactory receptor activity Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) TGTGATTAACCATTATTTTTG 0.428000 135 58 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35334316 35334316 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:35334316G>A uc001byc.3 - 6 2375 c.2375C>T c.(2374-2376)cCa>cTa p.P792L NM_001080418 NP_001073887 O95886 DLGP3_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA. 792 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GCCGTCGCGTGGGCAGGGGGA 0.697000 33 26 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196879440 196879440 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:196879440C>T uc001gtp.3 + 5 966 c.829C>T c.(829-831)Caa>Taa p.Q277* CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Nonsense_Mutation_p.Q276*|CFH_uc001gto.3_Intron NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 637 Sushi 5. 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 TCCAGAAATTCAACATGGACA 0.333000 8 7 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96534946 96534946 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:96534946C>T uc010qnz.2 + 1 300 c.300C>T c.(298-300)ttC>ttT p.F100F CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Silent_p.F78F NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 100 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 p.F100C(1) 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) GAGGCCATTTCCCACTGGCTG 0.498000 80 37 0 0 1 0 0 CLK2P 1197 broad.mit.edu 37 7 23624857 23624857 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:23624857G>A uc003swk.2 - 0 1290 c.640C>T c.(640-642)Ctg>Ttg p.L214L Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA. TCTGAGGTCAGATACTGCCGC 0.507000 45 26 0 0 1 0 0 ATP5EP2 432369 broad.mit.edu 37 13 28519373 28519373 + RNA SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:28519373G>A uc001uru.3 + 0 c.31G>A Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 (ATP5EP2), transcript variant 6, non-coding RNA. ovary(1) 1 GATTTGGCCCGACGCGCTCCG 0.493000 8 5 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65476088 65476088 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:65476088G>A uc011moz.2 + 16 3111 c.2974G>A c.(2974-2976)Gaa>Aaa p.E992K HEPH_uc004dwn.3_Missense_Mutation_p.E941K|HEPH_uc004dwo.3_Missense_Mutation_p.E671K|HEPH_uc010nkr.3_Missense_Mutation_p.E749K|HEPH_uc011mpa.2_Missense_Mutation_p.E941K|HEPH_uc010nks.3_Missense_Mutation_p.E230K NM_138737 NP_055614 Q9BQS7 HEPH_HUMAN Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. 938 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GTATTTGGAGGAAAATGTGGC 0.433000 11 23 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124180586 124180586 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:124180586G>A uc010sag.2 - 0 77 c.77C>T c.(76-78)cCc>cTc p.P26L NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA. 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 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;0.0528) GAGGAAGAGGGGCAGCTGGAG 0.478000 111 58 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2334793 2334793 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:2334793G>A uc002cpy.1 - 23 4402 c.3690C>T c.(3688-3690)atC>atT p.I1230I ABCA3_uc010bsk.1_Silent_p.I1172I NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 1230 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GGATGCGCATGATGGTGACCA 0.632000 16 8 0 0 1 0 0 ZNF850 342892 broad.mit.edu 37 19 37253237 37253237 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:37253237T>A uc010efc.3 - 2 268 c.109A>T c.(109-111)Atg>Ttg p.M37L ZNF850_uc010xtm.2_Missense_Mutation_p.M35L NM_001193552 NP_001180481 A8MQ14 ZN850_HUMAN Homo sapiens zinc finger protein 850 (ZNF850), mRNA. 37 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding TAGTTCTCCATCATTACATCT 0.458000 10 8 0 0 1 0 0 DIEXF 27042 broad.mit.edu 37 1 210012343 210012343 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:210012343C>T uc001hhr.2 + 6 1249 c.1152C>T c.(1150-1152)atC>atT p.I384I DIEXF_uc009xcu.2_Silent_p.I99I NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA. 384 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 AGAAGAAAATCATTGTGAGCA 0.502000 63 31 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400835 89400835 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:89400835C>T uc010upo.1 + 11 5393 c.5019C>T c.(5017-5019)tcC>tcT p.S1673S ACAN_uc010upp.1_Silent_p.S1673S|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1673 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TCACAGCCTCCACTGCAAGTG 0.537000 105 56 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70346525 70346525 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:70346525C>T uc003hek.4 - 5 1461 c.1414G>A c.(1414-1416)Gga>Aga p.G472R UGT2B4_uc011cap.2_Missense_Mutation_p.G336R|UGT2B4_uc003hel.4_3'UTR NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 472 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TGCTTGGCTCCTTTATGGCGC 0.483000 89 51 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160901421 160901421 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:160901421C>T uc002ube.2 - 1 569 c.357G>A c.(355-357)agG>agA p.R119R PLA2R1_uc010zcp.2_Silent_p.R119R|PLA2R1_uc002ubf.3_Silent_p.R119R NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 119 Ricin B-type lectin. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding p.R119M(1) PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TGATCATCTTCCTGTTACAGC 0.522000 59 26 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34052167 34052167 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:34052167C>T uc001bxm.1 - 45 7165 c.6988G>A c.(6988-6990)Gaa>Aaa p.E2330K CSMD2_uc001bxn.1_Missense_Mutation_p.E2332K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2332 Sushi 13. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTCAGAATTTCATTCCCCACT 0.478000 40 25 0 0 1 0 0 POU5F1B 5462 broad.mit.edu 37 8 128429119 128429119 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:128429119C>T uc003ysf.3 + 0 1263 c.1008C>T c.(1006-1008)gtC>gtT p.V336V LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_5'Flank NM_001159542 NP_001153014 Q06416 P5F1B_HUMAN Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA. 336 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|prostate(1)|urinary_tract(1) 3 ACTCCTCAGTCCCTTTCCCTG 0.587000 0 11 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17051990 17051990 + Silent SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:17051990T>C uc011awc.2 + 2 1224 c.1128T>C c.(1126-1128)atT>atC p.I376I PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Silent_p.I258I NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 384 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GCCTTGAAATTATTCACAAAT 0.393000 32 18 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41153958 41153958 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:41153958C>T uc003jmk.2 - 14 2454 c.2244G>A c.(2242-2244)ggG>ggA p.G748G C6_uc003jml.1_Silent_p.G748G NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 748 C5b-binding domain.|Sushi 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.G748G(2)|p.G748R(1) 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) TCCAGGAATTCCCCTGGCATG 0.473000 22 11 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20762649 20762649 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:20762649C>T uc010kuh.3 + 20 2669 c.2432C>T c.(2431-2433)tCc>tTc p.S811F ABCB5_uc003suw.4_Missense_Mutation_p.S366F|ABCB5_uc003sux.1_5'UTR NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 366 regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GCAACAGGTTCCAGGATTGGC 0.353000 66 24 0 0 1 0 0 TAGLN2 8407 broad.mit.edu 37 1 159890279 159890279 + Silent SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:159890279T>A uc001fun.1 - 1 94 c.21A>T c.(19-21)gcA>gcT p.A7A TAGLN2_uc010piy.1_Silent_p.A7A NM_003564 NP_003555 P37802 TAGL2_HUMAN Homo sapiens transgelin 2 (TAGLN2), mRNA. 7 muscle organ development nuclear membrane|plasma membrane protein binding endometrium(1)|large_intestine(2)|lung(6) 9 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) TCAGGCCATATGCAGGTCCCC 0.587000 26 15 0 0 1 0 0 STARD8 9754 broad.mit.edu 37 X 67939074 67939074 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:67939074C>T uc004dxb.3 + 6 1937 c.1723C>T c.(1723-1725)Cgt>Tgt p.R575C STARD8_uc004dxa.3_Missense_Mutation_p.R495C|STARD8_uc004dxc.4_Missense_Mutation_p.R495C NM_001142503 NP_055540 Q92502 STAR8_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA. 495 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 CAGGAAGCTCCGTTGGCATAG 0.562000 4 12 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 124008183 124008183 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:124008183C>T uc001lfv.3 + 19 8778 c.8418C>T c.(8416-8418)gtC>gtT p.V2806V TACC2_uc001lfw.3_Silent_p.V952V|TACC2_uc009xzx.3_Silent_p.V2684V|TACC2_uc010qtv.2_Silent_p.V2733V|TACC2_uc001lfx.3_Silent_p.V433V|TACC2_uc001lfy.3_Silent_p.V429V|TACC2_uc001lfz.3_Silent_p.V884V|TACC2_uc001lga.3_Silent_p.V854V|TACC2_uc009xzy.3_Silent_p.V866V|TACC2_uc001lgb.3_Silent_p.V764V NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 2806 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AGAAGTCAGTCTCCCACCAGA 0.587000 65 41 0 0 1 0 0 PIDD 55367 broad.mit.edu 37 11 799338 799338 + Missense_Mutation SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:799338G>T uc001lro.2 - 15 2849 c.2702C>A c.(2701-2703)gCt>gAt p.A901D SLC25A22_uc009yci.3_5'Flank|SLC25A22_uc001lrj.3_5'Flank|PIDD_uc009yck.1_Non-coding_Transcript|PIDD_uc001lrl.1_Missense_Mutation_p.A744D|PIDD_uc001lrm.1_Missense_Mutation_p.A588D|PIDD_uc001lrn.2_Missense_Mutation_p.A744D|PIDD_uc001lrk.2_Missense_Mutation_p.A884D|PIDD_uc001lrp.2_3'UTR NM_145886 NP_665893 Q9HB75 PIDD_HUMAN Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA. 901 apoptosis|signal transduction cytoplasm|nucleus death receptor binding GGGCTGTGGAGCCGAGGAGCC 0.667000 25 3 1 1 1 1 0 KCNJ8 3764 broad.mit.edu 37 12 21918682 21918682 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:21918682C>T uc001rff.3 - 2 1588 c.1250G>A c.(1249-1251)gGa>gAa p.G417E NM_004982 NP_004973 Q15842 IRK8_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA. 417 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) GTTTTGATTTCCTTCTGGAGT 0.423000 83 44 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327730 52327730 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:52327730C>T uc002pxt.1 + 1 913 c.729C>T c.(727-729)ttC>ttT p.F243F FPR3_uc021uyq.1_Silent_p.F243F NM_002030 NP_002021 P25089 FPR3_HUMAN Homo sapiens formyl peptide receptor 3 (FPR3), mRNA. 243 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TACGTGTCTTCGCTGCTGTGG 0.448000 16 9 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100403206 100403206 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:100403206G>A uc003uwn.1 - 14 3086 c.2595C>T c.(2593-2595)ccC>ccT p.P865P EPHB4_uc003uwm.1_Silent_p.P772P|EPHB4_uc010lhj.1_Silent_p.P865P NM_004444 NP_004435 P54760 EPHB4_HUMAN Homo sapiens EPH receptor B4 (EPHB4), mRNA. 865 Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) GGGGGAAGCGGGGCCGGGCAT 0.647000 92 58 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179569389 179569389 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179569389C>T uc021vsy.1 - 101 26303 c.26078G>A c.(26077-26079)gGa>gAa p.G8693E TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G5354E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9620 Ig-like 69. 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) TTTTTCAGTTCCTTTGTACCA 0.343000 8 3 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4685851 4685851 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:4685851C>T uc003bqc.3 + 7 907 c.557C>T c.(556-558)cCc>cTc p.P186L ITPR1_uc010hbz.3_Missense_Mutation_p.P186L|ITPR1_uc021wsi.1_Missense_Mutation_p.P186L|ITPR1_uc021wsj.1_Missense_Mutation_p.P186L|ITPR1_uc011asu.2_Missense_Mutation_p.P186L NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 186 MIR 2. activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GTTCTGAACCCCGTCAATGCT 0.502000 10 3 0 0 1 0 0 HSF4 3299 broad.mit.edu 37 16 67199648 67199648 + Nonsense_Mutation SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:67199648G>T uc002erl.2 + 4 1224 c.259G>T c.(259-261)Gag>Tag p.E87* HSF4_uc002erm.2_Nonsense_Mutation_p.E87*|HSF4_uc002ern.1_Non-coding_Transcript|HSF4_uc010cec.1_Non-coding_Transcript NM_001040667 NP_001035757 Q9ULV5 HSF4_HUMAN Homo sapiens heat shock transcription factor 4 (HSF4), transcript variant 2, mRNA. 87 response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GGTGAGCATCGAGCAGGGCGG 0.731000 10 11 2.32078e-09 2.34234e-09 1 1 0 BUB1 699 broad.mit.edu 37 2 111417562 111417562 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:111417562G>A uc002tgc.3 - 10 1381 c.1269C>T c.(1267-1269)atC>atT p.I423I BUB1_uc010yxh.2_Silent_p.I403I|BUB1_uc010fkb.3_Silent_p.I423I NM_004336 NP_004327 O43683 BUB1_HUMAN Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA. 423 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TACCTTCTTTGATCTCTGCTC 0.378000 37 20 0 0 1 0 0 FAM5B 57795 broad.mit.edu 37 1 177249674 177249674 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:177249674C>T uc001glf.3 + 7 1674 c.1362C>T c.(1360-1362)ggC>ggT p.G454G FAM5B_uc001glg.3_Silent_p.G349G NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 454 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CCTGCCAGGGCCCCATCCCAT 0.622000 16 3 0 0 1 0 0 MYEOV2 150678 broad.mit.edu 37 2 241066336 241066336 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:241066336C>T uc002vyu.1 - 4 403 c.403G>A c.(403-405)Gaa>Aaa p.E135K NM_138336 NP_612209 Q8WXC6 MYOV2_HUMAN Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA. 0 breast(1)|lung(5)|pancreas(1) 7 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) GCTGCCACTTCTCTCCCGTTC 0.567000 49 15 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17100519 17100519 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:17100519G>A uc002nfb.3 - 12 1502 c.1470C>T c.(1468-1470)tcC>tcT p.S490S NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 443 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AGCTGCCGAGGGAGAGGTAGC 0.597000 30 19 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54956639 54956639 + Missense_Mutation SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:54956639G>C uc004dtq.3 + 11 3589 c.3482G>C c.(3481-3483)aGt>aCt p.S1161T TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.S692T|TRO_uc004dtw.3_Missense_Mutation_p.S764T|TRO_uc004dtx.3_Missense_Mutation_p.S544T NM_001039705 NP_001034794 Q12816 TROP_HUMAN Homo sapiens trophinin (TRO), transcript variant 6, mRNA. 1161 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 TGCTTTGGCAGTGCATCTAAT 0.557000 11 28 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5274318 5274318 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:5274318G>A uc002mbv.3 - 2 363 c.129C>T c.(127-129)atC>atT p.I43I PTPRS_uc002mbu.1_Silent_p.I43I|PTPRS_uc010xin.2_Silent_p.I43I|PTPRS_uc002mbw.3_Silent_p.I43I|PTPRS_uc002mbx.3_Silent_p.I43I|PTPRS_uc002mby.3_Silent_p.I43I|PTPRS_uc002mbz.1_Silent_p.I43I NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 43 Ig-like C2-type 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CCGACACGCCGATCTGGTCCT 0.592000 18 7 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5427620 5427621 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:5427620_5427621GG>AA uc003soi.4 - 4 2183_2184 c.1834_1835CC>TT c.(1834-1836)ccc>TTc p.P612F TNRC18_uc010ksx.1_Missense_Mutation_p.P538F NM_001080495 NP_001073964 O15417 TNC18_HUMAN Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA. 612 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) ACCTCCAAAGGGGCTCTTCTTG 0.673000 2 3 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 85769328 85769328 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:85769328G>A uc004eew.2 + 2 744 c.574G>A c.(574-576)Gaa>Aaa p.E192K DACH2_uc004eex.2_Missense_Mutation_p.E179K|DACH2_uc010nmq.2_Missense_Mutation_p.E58K|DACH2_uc011mra.1_Missense_Mutation_p.E25K|DACH2_uc010nmr.2_5'UTR NM_053281 NP_001132987 Q96NX9 DACH2_HUMAN Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA. 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 AGTGTTGCAGGAAAATGCCCG 0.458000 6 17 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102555649 102555649 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:102555649C>T uc010mbu.3 + 1 531 c.201C>T c.(199-201)ctC>ctT p.L67L GRHL2_uc010mbt.1_Silent_p.L67L|GRHL2_uc011lhi.1_Silent_p.L67L NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA. 67 Transcription activation. cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TCGGCCTGCTCTATGACTACT 0.527000 58 21 0 0 1 0 0 C20orf152 140894 broad.mit.edu 37 20 34611578 34611578 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:34611578C>T uc002xer.1 + 10 1468 c.1312C>T c.(1312-1314)Ctg>Ttg p.L438L C20orf152_uc002xes.1_Intron|C20orf152_uc010gfp.1_Intron NM_080834 NP_543024 Q96M20 CT152_HUMAN Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA. 442 breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1) 18 Breast(12;0.00631) ACCCTTGATCCTGATGAGCCT 0.453000 48 41 0 0 1 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133961522 133961522 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:133961522G>A uc001lkx.4 + 12 1816 c.1816G>A c.(1816-1818)Gag>Aag p.E606K JAKMIP3_uc009yba.1_Missense_Mutation_p.E43K NM_001105521 NP_001098991 Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA. breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGACCAAAACGAGCTGCTGGA 0.547000 12 6 0 0 1 0 0 GABRQ 55879 broad.mit.edu 37 X 151821611 151821611 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:151821611C>T uc004ffp.1 + 8 1786 c.1766C>T c.(1765-1767)tCc>tTc p.S589F NM_018558 NP_061028 Q9UN88 GBRT_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA. 589 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) CCTGGGTGCTCCTTCACTGAA 0.542000 13 25 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34094839 34094839 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:34094839G>A uc011kap.2 + 9 1225 c.851G>A c.(850-852)gGc>gAc p.G284D NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 284 VWFC 4. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GGCCAGGAGGGCTGTTGTGAA 0.493000 56 37 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61959705 61959705 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:61959705C>T uc011aau.2 + 33 3736 c.3636C>T c.(3634-3636)tcC>tcT p.S1212S COL20A1_uc011aav.2_Silent_p.S1039S NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 1212 cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) AGTTCGACTCCTTCCACGAGA 0.677000 13 4 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21230271 21230271 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:21230271C>T uc002red.3 - 25 9597 c.9469G>A c.(9469-9471)Ggc>Agc p.G3157S NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3157 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 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) TCCTTCAAGCCTGTTTTTTCC 0.343000 59 25 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145562252 145562252 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:145562252C>T uc001eob.1 + 9 2048 c.1940C>T c.(1939-1941)tCc>tTc p.S647F ANKRD35_uc010oyx.1_Missense_Mutation_p.S490F NM_144698 NP_653299 Q8N283 ANR35_HUMAN Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA. 647 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GAGCTACAGTCCCTGAGCCAG 0.592000 38 21 0 0 1 0 0 PSMC4 5704 broad.mit.edu 37 19 40478366 40478366 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:40478366C>T uc002omq.3 + 2 263 c.226C>T c.(226-228)Cag>Tag p.Q76* PSMC4_uc002omr.3_Intron NM_006503 NP_006494 P43686 PRS6B_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA. 76 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|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCTCCATGCCCAGGAGGAGGT 0.517000 21 13 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28545313 28545313 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:28545313G>A uc002hey.4 - 4 1065 c.521C>T c.(520-522)tCc>tTc p.S174F NM_001045 NP_001036 P31645 SC6A4_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA. 174 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GTTGTAGTAGGAAGCAATGTA 0.547000 23 12 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620310 7620310 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:7620310C>T uc003bqm.2 + 7 1991 c.1717C>T c.(1717-1719)Cga>Tga p.R573* GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Nonsense_Mutation_p.R573*|GRM7_uc003bql.2_Nonsense_Mutation_p.R573*|GRM7_uc003bqn.1_Nonsense_Mutation_p.R156*|GRM7_uc010hch.1_Nonsense_Mutation_p.R84* NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 573 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CAATGAAAATCGAACCGGATG 0.522000 83 35 0 0 1 0 0 KIF7 374654 broad.mit.edu 37 15 90190845 90190845 + Missense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:90190845C>G uc002bof.2 - 5 1619 c.1542G>C c.(1540-1542)atG>atC p.M514I KIF7_uc010upw.1_Missense_Mutation_p.M1I NM_198525 NP_940927 Q2M1P5 KIF7_HUMAN Homo sapiens kinesin family member 7 (KIF7), mRNA. 514 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TGTACTGCTCCATGGCGTCCT 0.632000 OREG0023460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 7 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124819002 124819002 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:124819002G>A uc021rga.1 - 40 6711 c.6594C>T c.(6592-6594)gcC>gcT p.A2198A NCOR2_uc021rgb.1_Silent_p.A2182A|NCOR2_uc010tbb.2_Silent_p.A2191A|NCOR2_uc010tbc.2_Silent_p.A2181A|NCOR2_uc021rgc.1_Silent_p.A2181A|NCOR2_uc010tax.2_Silent_p.A312A NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 2202 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGGAGCCACGGGCCGGGGCAC 0.726000 6 11 0 0 1 0 0 SPR 6697 broad.mit.edu 37 2 73118507 73118507 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:73118507C>T uc002sik.2 + 2 677 c.627C>T c.(625-627)gcC>gcT p.A209A NM_003124 NP_003115 P35270 SPRE_HUMAN Homo sapiens sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) (SPR), mRNA. 209 nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process cytoplasm NADP binding|aldo-keto reductase (NADP) activity|sepiapterin reductase activity lung(4)|ovary(2) 6 AGCAGTTGGCCCGGGAGACCT 0.567000 39 19 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138183346 138183346 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:138183346G>A uc003esk.3 + 8 1301 c.1075G>A c.(1075-1077)Gaa>Aaa p.E359K ESYT3_uc010hug.2_Non-coding_Transcript NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA. 359 C2 1. integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 CACCTGGAACGAAGTGTTTGA 0.582000 47 18 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25708206 25708206 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:25708206G>A uc003xes.2 - 14 1865 c.1600C>T c.(1600-1602)Cct>Tct p.P534S 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. 534 Pro/Ser/Thr-rich. 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) TTGACAGCAGGAAAAACTGAA 0.507000 11 18 0 0 1 0 0 CD84 8832 broad.mit.edu 37 1 160535389 160535389 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:160535389G>A uc001fwh.4 - 1 272 c.193C>T c.(193-195)Cca>Tca p.P65S CD84_uc001fwf.4_Missense_Mutation_p.P65S|CD84_uc009wtn.3_Missense_Mutation_p.P65S|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Missense_Mutation_p.P65S|CD84_uc001fwj.3_Missense_Mutation_p.P65S|CD84_uc001fwk.3_Missense_Mutation_p.P65S NM_001184879 NP_001171808 Q9UIB8 SLAF5_HUMAN Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA. 65 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) GAGTCTCCTGGTGTTACATAA 0.423000 100 51 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46230691 46230691 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:46230691C>T uc001ros.1 + 7 940 c.940C>T c.(940-942)Cgt>Tgt p.R314C ARID2_uc001ror.3_Missense_Mutation_p.R314C|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 314 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.R314S(2)|p.R314C(2)|p.L313L(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TACCTGTCTTCGTTTCCTATT 0.398000 """N, S, F""" hepatocellular carcinoma 53 24 0 0 1 0 0 INMT 11185 broad.mit.edu 37 7 30795310 30795310 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:30795310C>T uc003tbs.1 + 2 651 c.635C>T c.(634-636)tCc>tTc p.S212F FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.S211F NM_006774 NP_006765 O95050 INMT_HUMAN Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA. 212 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 CGTGAATTTTCCTGCGTGGCC 0.597000 30 16 0 0 1 0 0 LHX8 431707 broad.mit.edu 37 1 75606725 75606725 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:75606725C>T uc001dgo.3 + 4 987 c.323C>T c.(322-324)tCc>tTc p.S108F LHX8_uc021oou.1_Missense_Mutation_p.S108F|LHX8_uc001dgq.3_Missense_Mutation_p.S47F NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA. 108 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 TGCAGAACCTCCCTAGGAAGG 0.403000 65 34 0 0 1 0 0 UBXN8 7993 broad.mit.edu 37 8 30601792 30601792 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:30601792T>A uc003xii.3 + 0 103 c.86T>A c.(85-87)aTa>aAa p.I29K UBXN8_uc010lvi.3_Missense_Mutation_p.I29K|UBXN8_uc011lbb.2_Non-coding_Transcript NM_005671 NP_005662 O00124 UBXN8_HUMAN Homo sapiens UBX domain protein 8 (UBXN8), mRNA. 29 single fertilization central_nervous_system(1)|lung(2) 3 ATCCCGGATATAGGTAAGTGT 0.557000 6 9 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180348136 180348136 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:180348136C>T uc002unn.4 - 5 1137 c.533G>A c.(532-534)gGa>gAa p.G178E ZNF385B_uc002unj.3_Missense_Mutation_p.G76E|ZNF385B_uc002unl.3_Missense_Mutation_p.G75E|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.G102E NM_152520 NP_001106869 Q569K4 Z385B_HUMAN Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA. 178 nucleus nucleic acid binding|zinc ion binding p.G178R(1) breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) ATGTTTACTTCCTTTGTAGTG 0.453000 50 24 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940978 22940978 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:22940978G>A uc021urt.1 - 3 1888 c.1733C>T c.(1732-1734)tCa>tTa p.S578L NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGTAAGATGTGAAGATTGCTT 0.358000 56 24 0 0 1 0 0 SRGN 5552 broad.mit.edu 37 10 70863851 70863851 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:70863851G>A uc001joz.3 + 2 538 c.452G>A c.(451-453)gGa>gAa p.G151E SRGN_uc021prx.1_Missense_Mutation_p.G95E NM_002727 NP_002718 P10124 SRGN_HUMAN Homo sapiens serglycin (SRGN), transcript variant 1, mRNA. 151 apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage extracellular space|mast cell granule|platelet alpha granule lumen large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3) 7 GGTCAACATGGATTAGAAGAG 0.398000 62 38 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159533480 159533480 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:159533480C>T uc003ipz.3 + 7 909 c.646C>T c.(646-648)Cca>Tca p.P216S RXFP1_uc010iqj.2_Missense_Mutation_p.P45S|RXFP1_uc010iqk.3_Missense_Mutation_p.P84S|RXFP1_uc011cja.2_Missense_Mutation_p.P135S|RXFP1_uc010iqo.3_Missense_Mutation_p.P216S|RXFP1_uc011cjb.2_Missense_Mutation_p.P162S|RXFP1_uc011cjc.2_Missense_Mutation_p.P135S|RXFP1_uc011cjd.2_Missense_Mutation_p.P135S|RXFP1_uc010iql.3_Missense_Mutation_p.P84S|RXFP1_uc011cje.2_Missense_Mutation_p.P243S|RXFP1_uc010iqm.3_Missense_Mutation_p.P183S|RXFP1_uc011cjf.2_Missense_Mutation_p.P86S|RXFP1_uc010iqn.3_Missense_Mutation_p.P162S NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 216 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AATTTCCCCACCAACATTTTA 0.284000 23 12 0 0 1 0 0 LRRC47 57470 broad.mit.edu 37 1 3701755 3701755 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:3701755C>T uc001akx.1 - 2 1118 c.1090G>A c.(1090-1092)Gaa>Aaa p.E364K NM_020710 NP_065761 Q8N1G4 LRC47_HUMAN Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA. 364 translation RNA binding|phenylalanine-tRNA ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) CAGAGATCTTCGTGGAGCTTG 0.617000 60 27 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158233857 158233857 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:158233857G>A uc003ipm.4 + 3 955 c.496G>A c.(496-498)Gat>Aat p.D166N GRIA2_uc011cit.2_Missense_Mutation_p.D119N|GRIA2_uc021xtr.1_Missense_Mutation_p.D166N|GRIA2_uc003ipl.4_Missense_Mutation_p.D166N|GRIA2_uc003ipk.4_Missense_Mutation_p.D119N|GRIA2_uc010iqh.1_Non-coding_Transcript NM_001083619 NP_001077088 P42262 GRIA2_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA. 166 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AGCTGTGCTGGATTCTGCTGC 0.383000 32 16 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48744965 48744965 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:48744965C>T uc002isl.3 + 11 1562 c.1482C>T c.(1480-1482)atC>atT p.I494I ABCC3_uc002isk.4_Silent_p.I494I NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 494 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TGAGTGAGATCCTGAACGGCA 0.582000 36 18 0 0 1 0 0 ENTPD5 957 broad.mit.edu 37 14 74439610 74439610 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:74439610C>T uc010tuo.2 - 12 1315 c.1004G>A c.(1003-1005)cGa>cAa p.R335Q ENTPD5_uc001xpi.3_Missense_Mutation_p.R335Q NM_001249 NP_001240 O75356 ENTP5_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA. 335 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(234;0.00394) GTCAACAGCTCGGTCATAATA 0.527000 105 59 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216258139 216258139 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:216258139G>A uc001hku.1 - 24 5455 c.5068C>T c.(5068-5070)Cct>Tct p.P1690S NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1690 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAATCCAGAGGTTCCCAAATA 0.428000 HNSCC(13;0.011) 51 38 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179455032 179455032 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179455032G>A uc021vsy.1 - 252 53941 c.53716C>T c.(53716-53718)Cca>Tca p.P17906S MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P11601S|TTN_uc021vta.1_Missense_Mutation_p.P11534S|TTN_uc021vtb.1_Missense_Mutation_p.P11409S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18833 Fibronectin type-III 29. G -> E (in a metastatic melanoma sample; somatic mutation). 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) TCTACTTCTGGAGGATGAAGG 0.428000 70 32 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921780 78921780 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:78921780G>A uc002bed.1 - 4 979 c.867C>T c.(865-867)tcC>tcT p.S289S CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.S107S NM_000750 NP_000741 P30926 ACHB4_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA. 289 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GCACATCGAGGGAGGTGGGTG 0.567000 40 22 0 0 1 0 0 C7orf42 55069 broad.mit.edu 37 7 66410093 66410093 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:66410093C>T uc003tvk.3 + 2 554 c.290C>T c.(289-291)tCc>tTc p.S97F C7orf42_uc010lah.3_Non-coding_Transcript NM_017994 NP_060464 Q9NWD8 CG042_HUMAN Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA. 97 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 17 GCCCGAGCTTCCACCCAGTCC 0.557000 38 20 0 0 1 0 0 MCHR1 2847 broad.mit.edu 37 22 41077203 41077203 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:41077203T>A uc003ayz.3 + 1 808 c.540T>A c.(538-540)ttT>ttA p.F180L MCHR1_uc003aza.3_Missense_Mutation_p.F69L NM_005297 NP_005288 Q99705 MCHR1_HUMAN Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA. 180 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 TGTGGCACTTTGGGGAGACCA 0.557000 134 47 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47279916 47279916 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:47279916G>A uc001cqn.4 + 6 895 c.811G>A c.(811-813)Gat>Aat p.D271N CYP4B1_uc009vyl.1_Missense_Mutation_p.D107N|CYP4B1_uc001cqm.4_Missense_Mutation_p.D270N|CYP4B1_uc009vym.3_Missense_Mutation_p.D256N|CYP4B1_uc010omk.2_Missense_Mutation_p.D107N|CYP4B1_uc010oml.1_Missense_Mutation_p.D108N NM_001099772 NP_001093242 P13584 CP4B1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA. 270 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.E271*(1) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) AGCCCTGCAGGATGAGAAGGT 0.577000 24 28 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16000503 16000503 + Splice_Site SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:16000503C>T uc002nbs.1 - 7 698 c.648_splice c.e7-1 p.E216_splice CYP4F2_uc010xot.1_Splice_Site_p.E67_splice|CYP4F2_uc010xou.1_Splice_Site_p.E67_splice NM_001082 NP_001073 P78329 CP4F2_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA. 216 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CACTGGGTTTCCTGCAGGATA 0.468000 67 40 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147914489 147914489 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:147914489G>A uc003weu.2 + 18 3636 c.3120G>A c.(3118-3120)caG>caA p.Q1040Q NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 1040 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCGACCAGCAGAACTCCCACC 0.542000 HNSCC(39;0.1) 127 73 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16437221 16437221 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:16437221G>A uc003zml.3 - 5 1111 c.971C>T c.(970-972)cCa>cTa p.P324L BNC2_uc011lmw.2_Missense_Mutation_p.P229L|BNC2_uc003zmm.3_Missense_Mutation_p.P282L|BNC2_uc003zmq.1_Missense_Mutation_p.P338L|BNC2_uc003zmr.1_Missense_Mutation_p.P361L|BNC2_uc003zmp.1_Missense_Mutation_p.P352L|BNC2_uc010mij.1_Missense_Mutation_p.P246L|BNC2_uc011lmv.2_Missense_Mutation_p.P150L|BNC2_uc003zmo.1_Missense_Mutation_p.P246L|BNC2_uc003zmj.3_Missense_Mutation_p.P89L|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.P89L|BNC2_uc003zmn.1_Missense_Mutation_p.P89L NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN Homo sapiens basonuclin 2 (BNC2), mRNA. 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) GTACTGGAATGGAAGCAGAAA 0.522000 157 83 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151970854 151970854 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:151970854G>A uc003wla.3 - 6 1167 c.948C>T c.(946-948)acC>acT p.T316T NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 316 T -> S (in dbSNP:rs10454320). intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.T316S(1)|p.G315G(1) NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AATCCTGAAAGGTGCCGGCTC 0.433000 N medulloblastoma 258 7 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10348560 10348560 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:10348560G>A uc002gmn.3 - 35 5400 c.5289C>T c.(5287-5289)atC>atT p.I1763I AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1763 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTACATCAGTGATGGCCTTCT 0.448000 80 48 0 0 1 0 0 CRISP3 10321 broad.mit.edu 37 6 49696509 49696509 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:49696509G>A uc021zai.1 - 7 829 c.741C>T c.(739-741)acC>acT p.T247T CRISP3_uc003ozs.3_Silent_p.T237T NM_001190986 NP_001177915 P54108 CRIS3_HUMAN Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA. 224 innate immune response proteinaceous extracellular matrix|specific granule p.T224T(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GATGTTTACAGGTTAATGTGA 0.378000 98 37 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389873 150389873 + Missense_Mutation SNP G A A rs150902506 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150389873G>A uc003who.3 + 2 587 c.499G>A c.(499-501)Gcc>Acc p.A167T NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA. 167 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGATAACAAAGCCCTAAGCAA 0.498000 57 59 0 0 1 0 0 TREML4 285852 broad.mit.edu 37 6 41197258 41197258 + Splice_Site SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:41197258G>A uc003oqc.3 + 3 499 c.395_splice c.e3-1 p.A132_splice TREML4_uc003oqd.3_Splice_Site NM_198153 NP_937796 Q6UXN2 TRML4_HUMAN Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA. 132 extracellular region breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.196) TTTCTCTTTAGCCCCAACCAC 0.572000 168 122 0 0 1 0 0 ZNF583 147949 broad.mit.edu 37 19 56935700 56935700 + Nonsense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:56935700C>G uc010ygl.1 + 4 1838 c.1673C>G c.(1672-1674)tCa>tGa p.S558* ZNF583_uc002qnc.2_Nonsense_Mutation_p.S558*|ZNF583_uc010ygm.1_Nonsense_Mutation_p.S558* NM_001159860 NP_689691 Q96ND8 ZN583_HUMAN Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA. 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) ccctccacatcaaatcagttg 0.438000 8 4 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39866396 39866396 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:39866396C>T uc002olb.3 + 6 1809 c.774C>T c.(772-774)gcC>gcT p.A258A SAMD4B_uc002ola.3_Silent_p.A258A NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA. 258 protein binding p.G257R(1) autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-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;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) AGCTTGGGGCCCGGGCTGCTT 0.652000 71 45 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45317449 45317449 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:45317449C>T uc002ozu.3 + 6 869 c.825C>T c.(823-825)tcC>tcT p.S275S BCAM_uc002ozt.1_Silent_p.S275S NM_005581 NP_005572 P50895 BCAM_HUMAN Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA. 275 Ig-like C2-type 1. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GCAGCCCGTCCACCCCAGCAG 0.637000 48 58 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21233980 21233980 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:21233980C>T uc002red.3 - 25 5888 c.5760G>A c.(5758-5760)tgG>tgA p.W1920* NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1920 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.W1920C(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) TATGTTCTCCCCAGAGAGCGA 0.458000 127 62 0 0 1 0 0 RTDR1 27156 broad.mit.edu 37 22 23406278 23406278 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:23406278G>A uc002zwt.3 - 4 613 c.455C>T c.(454-456)tCc>tTc p.S152F NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA. 152 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) TACCAGTGAGGAAATCAGACC 0.602000 61 18 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80730314 80730314 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:80730314C>T uc001szd.3 + 38 4701 c.4695C>T c.(4693-4695)atC>atT p.I1565I NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTGCTCATATCGAAAAATGTT 0.328000 20 10 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41427717 41427717 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:41427717C>T uc002yyq.1 - 28 5422 c.4970G>A c.(4969-4971)cGa>cAa p.R1657Q DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1657 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GATGTGCATTCGCAGGGTCTG 0.448000 116 59 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62752115 62752115 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:62752115G>A uc001nwk.3 - 0 381 c.48C>T c.(46-48)ttC>ttT p.F16F SLC22A6_uc001nwl.3_Silent_p.F16F|SLC22A6_uc001nwj.3_Silent_p.F16F|SLC22A6_uc001nwm.3_Silent_p.F16F NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA. 16 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GGATCTGCTGGAAGCGGCCGA 0.647000 10 4 0 0 1 0 0 NKAIN2 154215 broad.mit.edu 37 6 124979437 124979437 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:124979437G>A uc003pzo.3 + 3 656 c.379G>A c.(379-381)Gcc>Acc p.A127T NKAIN2_uc003pzn.1_Missense_Mutation_p.A127T|NKAIN2_uc010keq.3_Intron|NKAIN2_uc003pzp.3_Missense_Mutation_p.A126T|NKAIN2_uc010ker.3_Missense_Mutation_p.A37T NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA. 127 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) CCCAGACTGGGCCCCAGAAGA 0.507000 19 29 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179604914 179604914 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:179604914C>T uc010pnp.2 + 8 1930 c.1412C>T c.(1411-1413)tCc>tTc p.S471F TDRD5_uc021pfm.1_Missense_Mutation_p.S471F|TDRD5_uc001gnf.2_Missense_Mutation_p.S471F|TDRD5_uc021pfn.1_Missense_Mutation_p.S471F|TDRD5_uc001gnh.2_Missense_Mutation_p.S26F NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 471 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GACACCAGTTCCCTCATAGGG 0.453000 39 24 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012589 29012589 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:29012589G>A uc003nlw.2 - 0 364 c.364C>T c.(364-366)Cgt>Tgt p.R122C LOC100129636_uc021ytq.1_Intron NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122G(2)|p.R122S(2) endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 GCTGTAAAACGATCATAGGAC 0.398000 82 16 0 0 1 0 0 V_alpha_immunoglobulin 0 broad.mit.edu 37 14 22675459 22675459 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:22675459G>A uc001wdk.2 + 0 42 c.30G>A c.(28-30)ggG>ggA p.G10G TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.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_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 Homo sapiens mRNA for T cell receptor alpha variable 34, partial cds, clone: SEB 406. TACTCCTAGGGATATTGGGGT 0.453000 32 28 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155237102 155237102 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:155237102C>T uc003inw.2 - 14 3693 c.3693G>A c.(3691-3693)atG>atA p.M1231I NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 1231 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GCTGAGTTTTCATTTCATAAT 0.378000 34 11 0 0 1 0 0 CLRN3 119467 broad.mit.edu 37 10 129682000 129682000 + Silent SNP G A A rs145523376 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:129682000G>A uc001lka.1 - 1 532 c.369C>T c.(367-369)ttC>ttT p.F123F CLRN3_uc001ljz.1_Silent_p.F55F NM_152311 NP_689524 Q8NCR9 CLRN3_HUMAN Homo sapiens clarin 3 (CLRN3), mRNA. 123 integral to membrane endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235) TCGGCCCCAGGAATGTCTGGT 0.567000 54 27 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171687681 171687681 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:171687681T>A uc002ugi.3 + 4 948 c.526T>A c.(526-528)Ttg>Atg p.L176M GAD1_uc002ugh.3_Missense_Mutation_p.L176M NM_000817 NP_000808 Q99259 DCE1_HUMAN Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA. 176 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) CAGAGACACCTTGAAGTATGG 0.547000 94 28 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 57007848 57007848 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:57007848G>A uc001slq.1 - 3 1005 c.811C>T c.(811-813)Cct>Tct p.P271S BAZ2A_uc001slp.1_Missense_Mutation_p.P269S|BAZ2A_uc009zow.1_Missense_Mutation_p.P239S NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA. 271 DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GTGGGGTCAGGGACCAGGACT 0.488000 58 26 0 0 1 0 0 SV2A 9900 broad.mit.edu 37 1 149879677 149879677 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:149879677G>A uc001etg.3 - 8 1952 c.1461C>T c.(1459-1461)ttC>ttT p.F487F SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Silent_p.F487F NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA. 487 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.V486M(2) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GCTCCCCGGGGAACACTTTGG 0.517000 97 62 0 0 1 0 0 KCNMB2 10242 broad.mit.edu 37 3 178543421 178543421 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:178543421G>A uc003fjd.3 + 2 445 c.102G>A c.(100-102)agG>agA p.R34R AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Silent_p.R34R|KCNMB2_uc003fjf.3_Silent_p.R34R|KCNMB2_uc011bqa.2_Silent_p.R34R|KCNMB2_uc011bqb.2_Intron NM_181361 NP_852006 Q9Y691 KCMB2_HUMAN Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA. 34 Ball and chain. detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) TGGACAAAAGGAAAACAGTCA 0.433000 91 34 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861129 55861129 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55861129G>A uc010rix.2 + 0 346 c.346G>A c.(346-348)Gga>Aga p.G116R NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA. 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) TTTCCTTCTGGGATCAATGGC 0.428000 71 43 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39814834 39814835 + Missense_Mutation DNP CC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:39814834_39814835CC>TT uc003axt.3 + 5 697_698 c.648_649CC>TT c.(646-651)ttccgt>ttTTgt p.R217C TAB1_uc003axr.3_Missense_Mutation_p.R293C|TAB1_uc011aok.2_Missense_Mutation_p.R51C|TAB1_uc003axu.1_Missense_Mutation_p.R217C NM_006116 NP_006107 Q15750 TAB1_HUMAN Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA. 217 PP2C-like. I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB 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 cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 ATGAGCTCTTCCGTCTTTCGCA 0.579000 96 26 0 0 1 0 0 LOC100132247 0 broad.mit.edu 37 16 21854860 21854860 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:21854860G>A uc002djr.3 - 5 574 c.392C>T c.(391-393)tCc>tTc p.S131F LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Missense_Mutation_p.S112F|LOC100132247_uc010vbn.1_Missense_Mutation_p.S131F NM_001135865 NP_001129337 Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA. TCCTCGAAAGGAAGAAACTCT 0.428000 150 31 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112062 59112062 + Missense_Mutation SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:59112062T>C uc001xdw.3 + 3 885 c.721T>C c.(721-723)Ttt>Ctt p.F241L DACT1_uc010trv.2_Intron|DACT1_uc001xdx.3_Intron|DACT1_uc010trw.2_Intron NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA. 241 Wnt receptor signaling pathway|multicellular organismal development cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CACACCACAATTTAATTCCCT 0.443000 52 31 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14748562 14748562 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:14748562G>A uc003zlm.3 - 31 6449 c.5633C>T c.(5632-5634)cCc>cTc p.P1878L FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Missense_Mutation_p.P414L NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1878 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGACCCTGGGGGCAGCAGATG 0.537000 149 75 0 0 1 0 0 C4orf17 84103 broad.mit.edu 37 4 100443754 100443754 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:100443754G>A uc003huw.3 + 2 587 c.225G>A c.(223-225)agG>agA p.R75R C4orf17_uc003hux.3_Non-coding_Transcript NM_032149 NP_115525 Q53FE4 CD017_HUMAN Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA. 75 p.R75W(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) AGAAGAACAGGATACCATTTG 0.483000 61 21 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434141 179434141 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179434141C>T uc021vsy.1 - 274 69239 c.69014G>A c.(69013-69015)cGa>cAa p.R23005Q MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R16700Q|TTN_uc021vta.1_Missense_Mutation_p.R16633Q|TTN_uc021vtb.1_Missense_Mutation_p.R16508Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 23932 Fibronectin type-III 67. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.L23004L(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) ACTATCATATCGGTTGACATT 0.423000 25 18 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38691134 38691134 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:38691134G>A uc021yzh.1 + 2 521 c.412G>A c.(412-414)Gaa>Aaa p.E138K DNAH8_uc003ooe.2_5'UTR 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 AGAGGCAAGGGAAAGCCGAAG 0.308000 18 98 0 0 1 0 0 USP44 84101 broad.mit.edu 37 12 95927690 95927690 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:95927690G>A uc001teg.3 - 1 487 c.343C>T c.(343-345)Cgt>Tgt p.R115C USP44_uc001teh.3_Missense_Mutation_p.R115C|USP44_uc009zte.3_Missense_Mutation_p.R112C NM_001042403 NP_115523 Q9H0E7 UBP44_HUMAN Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA. 115 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 CTCCCACTACGAGTTGTGCAG 0.398000 41 19 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55948164 55948164 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:55948164C>T uc003has.3 - 28 4109 c.3807G>A c.(3805-3807)ctG>ctA p.L1269L KDR_uc003hat.1_Silent_p.L1269L NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 1269 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) CCAAAGTTTTCAGCTCTTCTG 0.368000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 64 40 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85984133 85984133 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:85984133G>A uc010qmc.2 - 1 856 c.848C>T c.(847-849)tCc>tTc p.S283F LRIT2_uc001kcy.3_Missense_Mutation_p.S283F NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA. 283 Ig-like. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 CCATGCAATGGATGGTGAGGG 0.532000 39 17 0 0 1 0 0 GCAT 23464 broad.mit.edu 37 22 38212210 38212210 + Missense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:38212210C>G uc003aua.2 + 7 1131 c.1068C>G c.(1066-1068)ttC>ttG p.F356L GCAT_uc003atz.3_Missense_Mutation_p.F330L NM_001171690 NP_001165161 O75600 KBL_HUMAN Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 330 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CCCACAGGTTCCGTAGTAAGA 0.617000 25 15 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28934958 28934958 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:28934958G>A uc002kwp.3 + 14 3011 c.2799G>A c.(2797-2799)atG>atA p.M933I DSG1_uc010xbp.2_Missense_Mutation_p.M292I NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 933 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CTTCCGGCATGATAGGTAGTC 0.478000 137 184 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539841 55539841 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:55539841C>T uc003xsd.1 + 3 3547 c.3399C>T c.(3397-3399)ctC>ctT p.L1133L RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1133 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAGCTTGGCTCTTGGTGCTAA 0.413000 19 56 0 0 1 0 0 FAM83F 113828 broad.mit.edu 37 22 40415935 40415935 + Silent SNP C T T rs142043340 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:40415935C>T uc003ayk.1 + 2 796 c.702C>T c.(700-702)ccC>ccT p.P234P NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA. 234 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TCTACATGCCCATGGGGAGGA 0.587000 54 41 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108509775 108509775 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:108509775G>A uc003ymn.3 - 0 480 c.12C>T c.(10-12)ttC>ttT p.F4F ANGPT1_uc003ymo.3_Silent_p.F4F NM_001146 NP_001137 Q15389 ANGP1_HUMAN Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA. 4 Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) CAAAGGAAAGGAAAACTGTCA 0.458000 3 19 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558218 140558218 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140558218G>A uc011dai.2 + 0 848 c.603G>A c.(601-603)ctG>ctA p.L201L PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 201 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAAAGCGCTGGACCGAGAGG 0.532000 62 7 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13850924 13850924 + Splice_Site SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13850924C>T uc003jfd.2 - 31 4993 c.4951_splice c.e31-1 p.E1651_splice NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1651 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGCTTGGCTTCCTATGAGAAC 0.453000 Kartagener syndrome 60 22 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87671632 87671632 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:87671632C>T uc003hpz.3 + 17 3140 c.2660C>T c.(2659-2661)tCg>tTg p.S887L PTPN13_uc003hpy.3_Missense_Mutation_p.S887L|PTPN13_uc003hqa.3_Missense_Mutation_p.S887L|PTPN13_uc003hqb.3_Intron NM_080683 NP_542414 Q12923 PTN13_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA. 887 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity p.S887L(4) NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) GAGAGAGCTTCGTTTAGGAGC 0.413000 109 46 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74450975 74450975 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:74450975C>T uc003hhd.1 - 5 708 c.585G>A c.(583-585)agG>agA p.R195R RASSF6_uc003hhc.1_Silent_p.R163R|RASSF6_uc010iik.1_Silent_p.R163R|RASSF6_uc010iil.1_Silent_p.R151R NM_201431 NP_803876 Q6ZTQ3 RASF6_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA. 195 apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GAGGCTTCATCCTTTTTCTCA 0.413000 38 25 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179456708 179456708 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179456708G>A uc021vsy.1 - 250 52444 c.52219C>T c.(52219-52221)Ctc>Ttc p.L17407F MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L11102F|TTN_uc021vta.1_Missense_Mutation_p.L11035F|TTN_uc021vtb.1_Missense_Mutation_p.L10910F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18334 Fibronectin type-III 26. 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) AACTTACGGAGAGGATCCAAA 0.413000 8 13 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940169 144940169 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:144940169G>A uc003zaa.1 - 0 7266 c.7253C>T c.(7252-7254)tCt>tTt p.S2418F NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2418 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCACTGTAGAGAGAGAGAAAG 0.507000 0 11 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179436191 179436191 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179436191C>T uc021vsy.1 - 274 67189 c.66964G>A c.(66964-66966)Ggg>Agg p.G22322R MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G16017R|TTN_uc021vta.1_Missense_Mutation_p.G15950R|TTN_uc021vtb.1_Missense_Mutation_p.G15825R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 23249 Fibronectin type-III 62. 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) GTACTCTTCCCATATCTGTTT 0.448000 33 11 0 0 1 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142162336 142162336 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142162336C>T uc011krw.2 - 0 72 c.28G>A c.(28-30)Gcc>Acc p.A10T TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc022ani.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; AGAGGAAAGGCTGCACAGCAC 0.577000 69 12 0 0 1 0 0 C9orf86 55684 broad.mit.edu 37 9 139733736 139733736 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:139733736C>T uc004cjj.1 + 11 2016 c.1559C>T c.(1558-1560)cCc>cTc p.P520L C9orf86_uc004cji.1_Missense_Mutation_p.P519L|C9orf86_uc004cjk.1_Intron|C9orf86_uc004cjl.1_Intron|C9orf86_uc010nbs.1_Missense_Mutation_p.P404L|C9orf86_uc004cjn.1_Missense_Mutation_p.P313L NM_001173988 NP_001167459 Q3YEC7 PARF_HUMAN Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA. 519 small GTPase mediated signal transduction cytoplasm|nucleus GTP binding|protein binding endometrium(4)|kidney(1)|lung(4) 9 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183) GCAGCACCCCCCTGGCCAGGC 0.667000 6 3 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106967703 106967703 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:106967703C>T uc003prh.3 + 1 2308 c.1396C>T c.(1396-1398)Ctt>Ttt p.L466F NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 466 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TGGGCCTTCTCTTTCACTGTC 0.488000 35 40 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60566687 60566687 + Missense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:60566687C>G uc001vht.3 - 9 1264 c.1045G>C c.(1045-1047)Gtt>Ctt p.V349L DIAPH3_uc001vhu.3_Missense_Mutation_p.V86L|DIAPH3_uc001vhv.3_5'Flank|DIAPH3_uc001vhw.1_Missense_Mutation_p.V338L|DIAPH3_uc010aed.1_Missense_Mutation_p.V303L|DIAPH3_uc010aee.1_Missense_Mutation_p.V279L NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA. 349 GBD/FH3. actin cytoskeleton organization Rho GTPase binding|actin binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GGAGATGTAACCAGGGCATTG 0.413000 39 3 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40468954 40468954 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:40468954G>A uc003ckd.4 + 10 1637 c.1545G>A c.(1543-1545)aaG>aaA p.K515K ENTPD3_uc010hhy.3_Silent_p.K515K|ENTPD3-AS1_uc003cke.4_Intron NM_001248 NP_001239 O75355 ENTP3_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA. 515 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) CCAGAAGAAAGAGGCACTCCG 0.537000 42 8 0 0 1 0 0 PCCA 5095 broad.mit.edu 37 13 101167781 101167781 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:101167781C>T uc001voo.3 + 21 2106 c.2000C>T c.(1999-2001)cCc>cTc p.P667L PCCA_uc010aga.3_Missense_Mutation_p.P641L|PCCA_uc010tiz.2_Intron NM_000282 NP_000273 P05165 PCCA_HUMAN Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 667 Biotinyl-binding. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TCCCCGATGCCCGGAGTGGTG 0.522000 OREG0022490 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 34 0 0 1 0 0 MPST 4357 broad.mit.edu 37 22 37425309 37425309 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:37425309C>T uc011amu.2 + 2 884 c.708C>T c.(706-708)ttC>ttT p.F236F MPST_uc003aqi.1_3'UTR|MPST_uc003aqm.3_Silent_p.F216F|MPST_uc003aql.3_Silent_p.F216F|MPST_uc003aqj.3_Silent_p.F216F NM_021126 NP_001123989 P25325 THTM_HUMAN Homo sapiens mercaptopyruvate sulfurtransferase (MPST), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 216 Rhodanese 2. cyanate catabolic process|response to toxin 3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1) 7 TCACAGACTTCCTGAGCCAGG 0.572000 34 17 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61985978 61985978 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:61985978G>A uc001vid.4 - 1 2618 c.2254C>T c.(2254-2256)Ctg>Ttg p.L752L PCDH20_uc010thj.2_Silent_p.L752L NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 725 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AGTACTAACAGATAAGACATA 0.443000 58 32 0 0 1 0 0 ZNF514 84874 broad.mit.edu 37 2 95815934 95815934 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:95815934G>A uc002sud.1 - 4 886 c.515C>T c.(514-516)tCa>tTa p.S172L ZNF514_uc002sue.1_Missense_Mutation_p.S99L NM_032788 NP_116177 Q96K75 ZN514_HUMAN Homo sapiens zinc finger protein 514 (ZNF514), mRNA. 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 TTTTTCCACTGATACTACCTG 0.393000 156 74 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26587205 26587205 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:26587205G>A uc001mqw.3 - 2 555 c.282C>T c.(280-282)ctC>ctT p.L94L ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Silent_p.L67L|MUC15_uc001mqy.3_Silent_p.L94L NM_001135091 NP_663625 Q8N387 MUC15_HUMAN Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA. 67 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 GACTCGCCTTGAGATTTGAGG 0.373000 34 27 0 0 1 0 0 RNF219 79596 broad.mit.edu 37 13 79190715 79190715 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:79190715G>A uc001vkw.1 - 5 1240 c.1181C>T c.(1180-1182)tCc>tTc p.S394F BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Missense_Mutation_p.S204F NM_024546 NP_078822 Q5W0B1 RN219_HUMAN Homo sapiens ring finger protein 219 (RNF219), mRNA. 394 zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) GCAACTAAGGGACAAAGGAGT 0.428000 55 23 0 0 1 0 0 DIO3 1735 broad.mit.edu 37 14 102028471 102028471 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:102028471C>T uc021sdx.1 + 0 784 c.638C>T c.(637-639)cCc>cTc p.P213L DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA. 187 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) ACGGACTCTCCCTACATCATC 0.637000 63 40 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141754666 141754666 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:141754666C>T uc003vwy.3 + 26 3326 c.3272C>T c.(3271-3273)cCa>cTa p.P1091L NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1091 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) AAGAAGAATCCATTTGGGATT 0.488000 121 30 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35873648 35873648 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:35873648G>A uc003jjs.3 + 4 693 c.604G>A c.(604-606)Gag>Aag p.E202K IL7R_uc011coo.2_Missense_Mutation_p.E202K|IL7R_uc011cop.2_Intron NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 202 Fibronectin type-III. immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity p.E202K(2) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) AGCAATGTATGAGATTAAAGT 0.418000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 27 20 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8317926 8317926 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:8317926G>A uc003zkk.3 - 45 6430 c.5687C>T c.(5686-5688)tCc>tTc p.S1896F PTPRD_uc003zkp.3_Missense_Mutation_p.S1490F|PTPRD_uc003zkq.3_Missense_Mutation_p.S1489F|PTPRD_uc003zkr.3_Missense_Mutation_p.S1480F|PTPRD_uc003zks.3_Missense_Mutation_p.S1489F|PTPRD_uc022bdj.1_Missense_Mutation_p.S1486F NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 1896 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGCACGATAGGAAAACTGATA 0.408000 TSP Lung(15;0.13) 78 35 0 0 1 0 0 GYPE 2996 broad.mit.edu 37 4 144826653 144826653 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:144826653C>T uc003ijj.3 - 0 64 c.8G>A c.(7-9)gGa>gAa p.G3E GYPE_uc003ijk.4_Missense_Mutation_p.G3E NM_198682 NP_941391 P15421 GLPE_HUMAN Homo sapiens glycophorin E (MNS blood group) (GYPE), transcript variant 2, mRNA. 3 integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) GATTATTTTTCCATACATCCT 0.373000 44 18 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 621573 621573 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:621573C>T uc001lql.3 - 4 763 c.496G>A c.(496-498)Gaa>Aaa p.E166K CDHR5_uc001lqj.3_Missense_Mutation_p.E166K|CDHR5_uc009ycd.3_Missense_Mutation_p.E166K|CDHR5_uc001lqk.3_Missense_Mutation_p.E166K|CDHR5_uc009ycc.3_5'UTR|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Missense_Mutation_p.E135K NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA. 166 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GCTGTCATTTCCTGGAGGGTG 0.637000 61 31 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89990217 89990217 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:89990217G>A uc003kju.3 + 32 7740 c.7644G>A c.(7642-7644)atG>atA p.M2548I GPR98_uc003kjt.3_Missense_Mutation_p.M254I|GPR98_uc003kjv.3_Missense_Mutation_p.M148I NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2548 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) TTCACCTCATGAACATTTCAG 0.393000 58 17 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9077510 9077510 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9077510G>A uc002mkp.3 - 2 10140 c.9936C>T c.(9934-9936)tcC>tcT p.S3312S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3313 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 GGGAGACAGAGGACATTGTGG 0.522000 54 22 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215844624 215844624 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:215844624C>T uc001hku.1 - 63 14210 c.13823G>A c.(13822-13824)cGa>cAa p.R4608Q NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4608 Fibronectin type-III 31. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CGCTTGAATTCGTATTTCATA 0.418000 HNSCC(13;0.011) 42 26 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30131690 30131690 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:30131690C>T uc010jrx.3 + 0 708 c.229C>T c.(229-231)Ccg>Tcg p.P77S TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank NM_033229 NP_150232 Q9C019 TRI15_HUMAN Homo sapiens tripartite motif containing 15 (TRIM15), mRNA. 77 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 GCCCCTGGGCCCGCTGGGAGA 0.627000 11 53 0 0 1 0 0 FAIM 55179 broad.mit.edu 37 3 138340314 138340314 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:138340314G>A uc003esr.3 + 1 304 c.44G>A c.(43-45)gGa>gAa p.G15E FAIM_uc003eso.1_Missense_Mutation_p.G49E|FAIM_uc003esq.3_Missense_Mutation_p.G37E|FAIM_uc003esp.3_Missense_Mutation_p.G49E|FAIM_uc003ess.3_Missense_Mutation_p.G15E NM_001033032 NP_060617 Q9NVQ4 FAIM1_HUMAN Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 3, mRNA. 15 apoptosis cytoplasm kidney(1)|upper_aerodigestive_tract(1) 2 TTAAGTGACGGAGTCCACAAG 0.373000 40 36 0 0 1 0 0 C16orf54 283897 broad.mit.edu 37 16 29755631 29755631 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:29755631C>T uc002dtp.2 - 1 751 c.642G>A c.(640-642)tgG>tgA p.W214* BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank NM_175900 NP_787096 Q6UWD8 CP054_HUMAN Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA. 214 integral to membrane breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1) 6 CTTCACGCTTCCAGAAAGCTG 0.667000 13 7 0 0 1 0 0 C1orf177 163747 broad.mit.edu 37 1 55282712 55282712 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:55282712G>A uc001cyb.4 + 8 1155 c.1101G>A c.(1099-1101)aaG>aaA p.K367K C1orf177_uc001cya.4_Silent_p.K367K NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA. 367 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 TGGAGACAAAGGACAGGCGGC 0.577000 29 13 0 0 1 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69343323 69343323 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:69343323G>A uc003hdz.4 + 7 1008 c.944G>A c.(943-945)gGa>gAa p.G315E NM_014058 NP_054777 Q9UL52 TM11E_HUMAN Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA. 315 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 TTTGTGACAGGATTTGGAGCA 0.403000 239 122 0 0 1 0 0 CORO7-PAM16 100529144 broad.mit.edu 37 16 4414375 4414375 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:4414375G>A uc002cwf.3 - 13 1620 c.1177C>T c.(1177-1179)Ccg>Tcg p.P393S CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.P173S|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.P393S|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.P375S|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.P308S|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.P173S|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Missense_Mutation_p.P173S NM_001201479 NP_001188408 Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA. GTGAAGCTCGGGTGGGGCCGG 0.697000 7 5 0 0 1 0 0 KLC4 89953 broad.mit.edu 37 6 43029218 43029218 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:43029218C>T uc003otw.1 + 1 518 c.199C>T c.(199-201)Cag>Tag p.Q67* KLC4_uc003otr.1_Non-coding_Transcript|MRPL2_uc003ots.1_5'Flank|MRPL2_uc011dvc.2_5'Flank|MRPL2_uc010jyi.3_5'Flank|MRPL2_uc003ott.4_5'Flank|KLC4_uc003otu.3_Nonsense_Mutation_p.Q49*|KLC4_uc003otv.1_Nonsense_Mutation_p.Q49*|KLC4_uc011dvd.1_Nonsense_Mutation_p.Q49*|KLC4_uc003otx.1_Nonsense_Mutation_p.Q49*|KLC4_uc003oty.1_Nonsense_Mutation_p.Q49*|KLC4_uc003otz.1_Nonsense_Mutation_p.Q49* NM_201523 NP_958930 Q9NSK0 KLC4_HUMAN Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA. 49 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) AAGCCTGTCCCAGACCATTGA 0.617000 34 11 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55220379 55220379 + RNA SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:55220379C>T uc002qgs.1 + 0 c.779C>T LILRP2_uc002qgt.1_Intron Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. CCTGTGGTTTCTTCCAGGGAC 0.612000 6 4 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39051792 39051792 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:39051792C>T uc002oit.3 + 89 12452 c.12322C>T c.(12322-12324)Cag>Tag p.Q4108* RYR1_uc002oiu.3_Nonsense_Mutation_p.Q4103*|RYR1_uc002oiv.1_Nonsense_Mutation_p.Q1017* NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 4108 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCCAGAAATCCAGTTCCTGCT 0.567000 34 15 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106967931 106967931 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:106967931C>T uc003prh.3 + 1 2536 c.1624C>T c.(1624-1626)Cca>Tca p.P542S NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 542 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AAGTGAGTGTCCATCCAGAGT 0.532000 8 16 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147336367 147336367 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:147336367C>T uc003weu.2 + 12 2583 c.2067C>T c.(2065-2067)ttC>ttT p.F689F NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 689 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCTCCTATTTCTGCAAGATGT 0.448000 HNSCC(39;0.1) 62 16 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26513530 26513530 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:26513530G>A uc001isp.2 + 5 1177 c.674G>A c.(673-675)aGa>aAa p.R225K GAD2_uc001isq.2_Missense_Mutation_p.R225K NM_001134366 NP_001127838 Q05329 DCE2_HUMAN Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA. 225 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) AAGAAAATGAGAGAAATCATT 0.388000 66 33 0 0 1 0 0 PROSER1 80209 broad.mit.edu 37 13 39587713 39587713 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:39587713G>A uc001uwy.3 - 10 2549 c.1676C>T c.(1675-1677)tCt>tTt p.S559F PROSER1_uc001uwz.3_Missense_Mutation_p.S537F NM_025138 NP_079414 Q86XN7 CM023_HUMAN Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA. 559 Ser-rich. GGCTAAAGGAGACTGTACAGG 0.597000 48 19 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100020194 100020194 + Nonsense_Mutation SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:100020194C>A uc002tad.3 - 18 3342 c.3130G>T c.(3130-3132)Gag>Tag p.E1044* REV1_uc002tac.3_Nonsense_Mutation_p.E1043* NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA. 1044 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTGCTGTTCTCGCCCTGCCTT 0.498000 Direct reversal of damage 69 44 1.61742e-36 1.64774e-36 1 1 0 YPEL5 51646 broad.mit.edu 37 2 30379532 30379532 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:30379532C>T uc002rna.4 + 3 576 c.15C>T c.(13-15)ttC>ttT p.F5F YPEL5_uc002rnb.4_Silent_p.F5F|YPEL5_uc002rnc.4_Silent_p.F5F|YPEL5_uc002rmz.4_Silent_p.F5F|YPEL5_uc010ezn.3_Intron|YPEL5_uc002rnd.3_Silent_p.F5F NM_001127401 NP_057145 P62699 YPEL5_HUMAN Homo sapiens yippee-like 5 (Drosophila) (YPEL5), transcript variant 1, mRNA. 5 peptide-methionine-(S)-S-oxide reductase activity p.F5F(2) NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1) 7 Acute lymphoblastic leukemia(172;0.155) GCAGAATTTTCCTTGATCATA 0.418000 75 35 0 0 1 0 0 APLF 200558 broad.mit.edu 37 2 68772326 68772326 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:68772326C>T uc002sep.3 + 7 1341 c.1168C>T c.(1168-1170)Cct>Tct p.P390S APLF_uc002seq.1_Non-coding_Transcript|APLF_uc010fdf.2_Missense_Mutation_p.P366S|APLF_uc002ser.1_Missense_Mutation_p.P121S NM_173545 NP_775816 Q8IW19 APLF_HUMAN Homo sapiens aprataxin and PNKP like factor (APLF), mRNA. 390 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 TAGGAAGAATCCTGTTCATTT 0.408000 52 23 0 0 1 0 0 OFD1 8481 broad.mit.edu 37 X 13786245 13786245 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:13786245A>G uc004cvp.4 + 20 3189 c.2830A>G c.(2830-2832)Aat>Gat p.N944D OFD1_uc004cvr.4_Missense_Mutation_p.N474D|OFD1_uc011mil.2_Missense_Mutation_p.N511D|OFD1_uc004cvq.4_Missense_Mutation_p.N767D|OFD1_uc010nen.3_Missense_Mutation_p.N942D|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.N903D|OFD1_uc004cvv.4_Missense_Mutation_p.N902D NM_003611 NP_003602 O75665 OFD1_HUMAN Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA. 944 Mediates the interaction with SDCCAG8. G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AGAAATGAGTAATCAAGAAAT 0.323000 7 12 0 0 1 0 0 ENPP4 22875 broad.mit.edu 37 6 46107842 46107842 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:46107842G>A uc003oxy.3 + 1 781 c.522G>A c.(520-522)tcG>tcA p.S174S NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA. 174 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 TAAACAATTCGAACCCACCAG 0.388000 133 31 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236975 33236975 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:33236975C>T uc001bvu.1 + 5 2239 c.2195C>T c.(2194-2196)tCc>tTc p.S732F KIAA1522_uc010ohm.1_Missense_Mutation_p.S684F|KIAA1522_uc001bvv.2_Missense_Mutation_p.S673F|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA. 673 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCCCCACCTTCCCCACCCCCA 0.597000 20 15 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767811 77767811 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:77767811G>A uc003yau.2 + 9 9041 c.8654G>A c.(8653-8655)aGc>aAc p.S2885N ZFHX4_uc003yaw.1_Missense_Mutation_p.S2840N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2840 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T2885A(1) 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) CACGACCAAAGCTTTTACATC 0.527000 HNSCC(33;0.089) 22 10 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69798460 69798460 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:69798460G>A uc003hef.2 - 2 913 c.882C>T c.(880-882)gtC>gtT p.V294V UGT2A3_uc010ihp.1_Non-coding_Transcript NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA. 294 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CTGAACTCTGGACAAAATTTT 0.333000 71 50 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42873925 42873925 + Nonsense_Mutation SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:42873925C>A uc001uys.2 + 7 1218 c.1043C>A c.(1042-1044)tCa>tAa p.S348* NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA. 348 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) ATAGAGGATTCAGACTCAGAA 0.348000 18 9 7.48243e-07 7.52983e-07 1 1 0 POMC 5443 broad.mit.edu 37 2 25383959 25383959 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:25383959C>T uc002rfy.1 - 3 1058 c.795G>A c.(793-795)aaG>aaA p.K265K POMC_uc002rfz.1_Silent_p.K265K|POMC_uc002rga.1_Silent_p.K265K NM_001035256 NP_001030333 P01189 COLI_HUMAN Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA. 265 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) CTCACTCGCCCTTCTTGTAGG 0.647000 19 8 0 0 1 0 0 LOC100133308 100133308 broad.mit.edu 37 10 45602072 45602072 + RNA SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:45602072G>A uc001jby.3 - 0 c.1365C>T LOC100133308_uc001jbz.3_Non-coding_Transcript|LOC100133308_uc009xmq.2_Non-coding_Transcript Homo sapiens Ras suppressor protein 1 pseudogene (LOC100133308), non-coding RNA. ACCTAGTTCTGGGCGTAGAAC 0.433000 23 15 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868415 97868415 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:97868415C>T uc003dsg.1 + 0 186 c.186C>T c.(184-186)ctC>ctT p.L62L NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TGTACTTACTCCTTGGGAATT 0.403000 182 132 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56029286 56029286 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:56029286C>T uc003pcs.3 - 8 1538 c.1306G>A c.(1306-1308)Gat>Aat p.D436N COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.D436N|COL21A1_uc003pcu.1_Missense_Mutation_p.D433N NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 436 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GAACCTACATCACTGGGACCA 0.403000 3 9 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158815598 158815598 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:158815598G>A uc001fsz.1 + 4 992 c.792G>A c.(790-792)aaG>aaA p.K264K NM_002432 NP_002423 P41218 MNDA_HUMAN Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA. 264 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TAAGGAAGAAGGTCATTACCA 0.358000 21 18 0 0 1 0 0 ZNF614 80110 broad.mit.edu 37 19 52519426 52519426 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:52519426T>A uc002pyj.3 - 4 1827 c.1425A>T c.(1423-1425)agA>agT p.R475S ZNF614_uc002pyi.4_Intron|ZNF614_uc010epj.3_Missense_Mutation_p.R178S NM_025040 NP_079316 Q8N883 ZN614_HUMAN Homo sapiens zinc finger protein 614 (ZNF614), mRNA. 475 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CTGTATGACATCTCTCATGTT 0.403000 94 60 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103908522 103908522 + Silent SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:103908522A>G uc001phr.2 + 0 1215 c.972A>G c.(970-972)caA>caG p.Q324Q PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA. 324 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TTGAGGATCAACCCATGGATA 0.453000 80 37 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2976739 2976739 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:2976739C>T uc003smv.3 - 8 1607 c.1273G>A c.(1273-1275)Gag>Aag p.E425K NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 425 T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.E425K(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) ATGCAGGCCTCCCGCCGCACC 0.607000 Mis DLBCL 24 20 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20065771 20065771 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:20065771G>A uc010rdm.2 + 13 3582 c.3221G>A c.(3220-3222)aGg>aAg p.R1074K NAV2_uc001mpp.3_Missense_Mutation_p.R987K|NAV2_uc001mpr.4_Missense_Mutation_p.R1051K|NAV2_uc021qew.1_Missense_Mutation_p.R1051K|NAV2_uc001mpt.2_Missense_Mutation_p.R137K|NAV2_uc009yhx.3_Missense_Mutation_p.R137K|NAV2_uc009yhy.1_Missense_Mutation_p.R50K NM_001244963 NP_001231892 Q8IVL1 NAV2_HUMAN Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA. 1074 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 ACCATGCCAAGGACGAAGCCT 0.582000 25 12 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424891 125424891 + Silent SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:125424891T>C uc022bmz.1 + 0 897 c.897T>C c.(895-897)ggT>ggC p.G299G NM_001005236 NP_001005236 Q8NH94 OR1L1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA. 349 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 TGAAGCAGGGTTTGGCAAAGT 0.388000 51 22 0 0 1 0 0 FAM83F 113828 broad.mit.edu 37 22 40415248 40415248 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:40415248G>A uc003ayk.1 + 1 660 c.566G>A c.(565-567)cGg>cAg p.R189Q NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA. 189 p.R189R(1) breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TGTAAGCGCCGGGTCCCAGTG 0.532000 90 33 0 0 1 0 0 HPN 3249 broad.mit.edu 37 19 35551645 35551645 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:35551645C>T uc002nxq.2 + 9 980 c.735C>T c.(733-735)ccC>ccT p.P245P HPN_uc002nxr.2_Silent_p.P245P|HPN_uc010xsh.1_Silent_p.P214P|HPN_uc002nxt.1_Silent_p.P129P|LOC100128675_uc010xsi.2_Intron NM_002151 NP_892028 P05981 HEPS_HUMAN Homo sapiens hepsin (HPN), transcript variant 2, mRNA. 245 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) GCTATCTTCCCTTTCGGGACC 0.637000 64 46 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7581755 7581755 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:7581755G>A uc003mxp.1 + 22 5611 c.5332G>A c.(5332-5334)Gaa>Aaa p.E1778K DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1778 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAGAGAGAGGGAAAATTTGAG 0.408000 136 34 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875172 247875172 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:247875172C>T uc001idj.1 - 0 886 c.886G>A c.(886-888)Gaa>Aaa p.E296K NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA. 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E296K(2) breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TCTCTTACTTCCTTATTACGA 0.428000 85 48 0 0 1 0 0 FAM5C 339479 broad.mit.edu 37 1 190067151 190067151 + Silent SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:190067151A>G uc001gse.1 - 7 2530 c.2298T>C c.(2296-2298)agT>agC p.S766S FAM5C_uc010pot.1_Silent_p.S664S NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 766 extracellular region p.C765F(1)|p.S766I(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TTTATGGTTAACTACATAATT 0.373000 32 46 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612077 20612077 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20612077C>T uc010tla.2 + 0 183 c.183C>T c.(181-183)ttC>ttT p.F61F NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) CCCTCTATTTCTTTCTGGGCA 0.453000 148 87 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157557276 157557276 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:157557276C>T uc001fqw.3 - 4 773 c.637G>A c.(637-639)Gaa>Aaa p.E213K FCRL4_uc010phy.2_Non-coding_Transcript NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Homo sapiens Fc receptor-like 4 (FCRL4), mRNA. 213 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity p.E213K(2)|p.E213Q(2) 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) AGCTGTGTTTCACAGCTCAGG 0.498000 85 58 0 0 1 0 0 ETS2 2114 broad.mit.edu 37 21 40194662 40194662 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:40194662G>A uc002yxf.3 + 10 1719 c.1679G>A c.(1678-1680)gGc>gAc p.G560D ETS2_uc002yxg.3_Missense_Mutation_p.G420D NM_005239 NP_005230 P15036 ETS2_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA. 420 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) CTGAGCCGGGGCTTACGCTAC 0.522000 40 20 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805457 54805457 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:54805457C>T uc003pck.3 + 4 1804 c.1688C>T c.(1687-1689)tCc>tTc p.S563F NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 563 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) ACAACTGGCTCCTCAAATTCA 0.438000 41 11 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129037210 129037210 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:129037210G>A uc003kvb.1 + 19 3066 c.3066G>A c.(3064-3066)ggG>ggA p.G1022G ADAMTS19_uc010jdh.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 1022 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ACTGCATTGGGCCCAAGCCCG 0.582000 33 14 0 0 1 0 0 C14orf184 0 broad.mit.edu 37 14 92040870 92040870 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:92040870G>A uc010aua.2 - 0 87 c.87C>T c.(85-87)ccC>ccT p.P29P RecName: Full=Putative uncharacterized protein C14orf184; CTCCTTCTCCGGGAACGGCCC 0.597000 4 6 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216256831 216256831 + Silent SNP G A A rs147371835 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:216256831G>A uc001hku.1 - 25 5652 c.5265C>T c.(5263-5265)ttC>ttT p.F1755F NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1755 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGTTATAAACGAAAAGAAGCA 0.299000 HNSCC(13;0.011) 63 36 0 0 1 0 0 METTL2B 55798 broad.mit.edu 37 7 128119424 128119424 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:128119424G>A uc003vnf.3 + 2 452 c.415G>A c.(415-417)Gaa>Aaa p.E139K METTL2B_uc003vng.3_Missense_Mutation_p.E74K|METTL2B_uc011kop.2_Missense_Mutation_p.E3K NM_018396 NP_060866 Q6P1Q9 MTL2B_HUMAN Homo sapiens methyltransferase like 2B (METTL2B), mRNA. 139 methyltransferase activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 AATAATGGAAGAACAGCACAA 0.388000 116 10 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228128517 228128517 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:228128517G>A uc002vom.2 + 20 1334 c.1172G>A c.(1171-1173)aGa>aAa p.R391K BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 391 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CCTGGCCTCAGAGGAGCCCCT 0.468000 12 5 0 0 1 0 0 LOC728819 728819 broad.mit.edu 37 2 43903084 43903084 + Nonsense_Mutation SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:43903084G>T uc010fav.1 - 0 378 c.378C>A c.(376-378)taC>taA p.Y126* PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron NM_001101330 NP_001094800 Homo sapiens hCG1645220 (LOC728819), mRNA. all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTTCAAAGACGTATTTGTAAG 0.373000 103 53 3.89483e-19 3.95225e-19 1 1 0 ADC 113451 broad.mit.edu 37 1 33547955 33547955 + Splice_Site SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:33547955G>A uc009vug.3 + 1 177 c.105_splice c.e1+1 p.T35_splice ADC_uc001bwr.3_Splice_Site_p.T35_splice|ADC_uc001bws.3_Splice_Site_p.T35_splice|ADC_uc009vue.3_Splice_Site_p.T35_splice|ADC_uc001bwt.1_5'UTR|ADC_uc001bwu.3_Intron|ADC_uc001bwv.3_Intron|ADC_uc001bwx.1_5'UTR|ADC_uc009vuf.1_Splice_Site_p.T35_splice|ADC_uc001bwy.1_Splice_Site|ADC_uc001bwz.1_Splice_Site_p.T35_splice NM_052998 NP_443724 Q96A70 ADC_HUMAN Homo sapiens arginine decarboxylase (ADC), mRNA. 35 MAGYLSESDFVMVEEGFSTRDLLKELTLGASQATT -> QQ GSSVASTEPGSGTWKDHGWHAQGASWMGSHIHPLLVIQ (in Ref. 3; BAB85531). polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) AGGCCACCACGGTGAGGGGCT 0.602000 13 8 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64921587 64921587 + Silent SNP A T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:64921587A>T uc001xhb.3 + 25 3099 c.2712A>T c.(2710-2712)gtA>gtT p.V904V MTHFD1_uc010aqf.3_Silent_p.V960V|ZBTB25_uc001xhc.3_Intron NM_005956 NP_005947 P11586 C1TC_HUMAN Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA. 904 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) ACCCCTTAGTAGGAACGGTAA 0.537000 63 37 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57176338 57176338 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:57176338C>T uc010ygn.2 - 1 456 c.229G>A c.(229-231)Gac>Aac p.D77N NM_001005850 NP_001005850 Homo sapiens zinc finger protein 835 (ZNF835), mRNA. endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GAACTGCTGTCGTCGGGGACA 0.647000 16 12 0 0 1 0 0 C22orf28 51493 broad.mit.edu 37 22 32794048 32794048 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:32794048G>A uc003amm.2 - 6 825 c.694C>T c.(694-696)Cag>Tag p.Q232* C22orf28_uc011ama.1_Non-coding_Transcript NM_014306 NP_055121 Q9Y3I0 RTCB_HUMAN Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA. 232 cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|tRNA-splicing ligase complex ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 21 TCCACAACCTGGATTTCTGCA 0.403000 108 35 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17373620 17373620 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:17373620G>A uc002nfs.1 - 3 496 c.383C>T c.(382-384)tCc>tTc p.S128F USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.S64F|USHBP1_uc010eam.1_Missense_Mutation_p.S56F NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA. 128 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 TGCCTCCAGGGAGCTCAGAGT 0.657000 35 10 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90604820 90604820 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:90604820C>T uc011eaa.2 + 0 633 c.633C>T c.(631-633)ttC>ttT p.F211F NM_032602 NP_115991 Q969M2 CXA10_HUMAN Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA. 211 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) AGACAATTTTCATGCTTTTTA 0.403000 53 61 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10247152 10247152 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:10247152G>A uc002gmk.1 - 15 1949 c.1859C>T c.(1858-1860)tCc>tTc p.S620F MYH13_uc010vvf.1_Missense_Mutation_p.S295F NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 620 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AAAAAGGAAGGAGAGAAGCTT 0.498000 26 15 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9119249 9119249 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:9119249C>T uc003jek.2 - 14 2498 c.1786G>A c.(1786-1788)Gga>Aga p.G596R NM_003966 NP_003957 Q13591 SEM5A_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA. 596 TSP type-1 2. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GTCCAGCCTCCGTTCCTGAGG 0.627000 10 5 0 0 1 0 0 OR52I1 390037 broad.mit.edu 37 11 4616188 4616188 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4616188G>A uc010qyi.2 + 0 920 c.920G>A c.(919-921)gGa>gAa p.G307E NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA. 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGCTGGAGGGAATATGGAGT 0.468000 75 58 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148947509 148947509 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:148947509C>T uc003wfp.3 + 1 412 c.284C>T c.(283-285)gCc>gTc p.A95V NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN Homo sapiens zinc finger protein 212 (ZNF212), mRNA. 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GGCAAGTGGGCCGTGCTGGGG 0.642000 139 39 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150925668 150925668 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:150925668G>A uc003lue.4 - 8 5033 c.5020C>T c.(5020-5022)Cct>Tct p.P1674S NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 1674 Cadherin 15. 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) GAACCAACAGGGATTGATTCA 0.453000 42 22 0 0 1 0 0 CAMKK1 84254 broad.mit.edu 37 17 3785639 3785639 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:3785639G>A uc002fwv.3 - 7 859 c.711C>T c.(709-711)atC>atT p.I237I CAMKK1_uc002fwt.3_Intron|CAMKK1_uc002fwu.3_Intron NM_172207 NP_757344 Q8N5S9 KKCC1_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA. 228 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 11 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) AATCTAACTGGATATTCTGGG 0.557000 64 35 0 0 1 0 0 ZNF570 148268 broad.mit.edu 37 19 37975326 37975326 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:37975326C>T uc010efl.1 + 5 1089 c.970C>T c.(970-972)Cat>Tat p.H324Y ZNF570_uc002ogk.1_Missense_Mutation_p.H268Y|ZNF570_uc010xtr.1_Missense_Mutation_p.H65Y NM_144694 NP_653295 Q96NI8 ZN570_HUMAN Homo sapiens zinc finger protein 570 (ZNF570), mRNA. 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCAGAGGATTCATACTGGAGA 0.393000 52 22 0 0 1 0 0 DPPA4 55211 broad.mit.edu 37 3 109049539 109049539 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:109049539G>A uc003dxq.4 - 4 566 c.511C>T c.(511-513)Cct>Tct p.P171S DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.P171S NM_018189 NP_060659 Q7L190 DPPA4_HUMAN Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA. 171 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CCCACAGGAGGAAGAGCCACT 0.507000 45 18 0 0 1 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18194839 18194839 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:18194839G>A uc001mnv.1 + 0 456 c.36G>A c.(34-36)ctG>ctA p.L12L NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA. 12 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GTACAAAACTGACACCAATCA 0.522000 96 46 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150704308 150704308 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150704308G>A uc003wif.3 + 16 2352 c.2056G>A c.(2056-2058)Gac>Aac p.D686N NOS3_uc011kuy.2_Missense_Mutation_p.D480N NM_000603 NP_000594 P29474 NOS3_HUMAN Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA. 686 Flavodoxin-like. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia Golgi membrane|caveola|cytoskeleton|cytosol FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.D686Y(2) NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GGGCCAGGGCGACGAGCTGTG 0.716000 69 15 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7550881 7550881 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:7550881C>T uc010sge.2 - 6 1764 c.1738G>A c.(1738-1740)Gat>Aat p.D580N CD163L1_uc001qsy.3_Missense_Mutation_p.D570N NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 570 extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 ACAATCACATCCTCTCTGTGT 0.398000 62 45 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78058748 78058748 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:78058748C>T uc010dht.3 + 12 2227 c.2196C>T c.(2194-2196)ttC>ttT p.F732F CCDC40_uc021uem.1_Silent_p.F732F|CCDC40_uc002jxm.4_Silent_p.F515F|CCDC40_uc002jxn.4_Silent_p.F128F NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA. 732 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) TCATCAACTTCCTCAACAAGC 0.617000 20 21 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9362277 9362277 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9362277C>T uc002mlb.1 + 0 558 c.558C>T c.(556-558)tgC>tgT p.C186C NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA. 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 AGCTCACCTGCTTCAAGGATG 0.403000 17 7 0 0 1 0 0 CA13 377677 broad.mit.edu 37 8 86163066 86163066 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:86163066C>T uc003ydg.2 + 1 477 c.135C>T c.(133-135)ctC>ctT p.L45L CA13_uc003ydf.1_Non-coding_Transcript NM_198584 NP_940986 Q8N1Q1 CAH13_HUMAN Homo sapiens carbonic anhydrase XIII (CA13), mRNA. 45 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding p.L45L(2) large_intestine(1)|lung(6) 7 ACTCTTCCCTCCGACCACTTA 0.408000 92 104 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338648 13338648 + RNA SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:13338648C>T uc003gms.3 + 0 c.3612C>T Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA. kidney(3)|lung(1) 4 CAAAGTGATCCTCCACCTTAA 0.483000 32 21 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167823649 167823649 + Silent SNP G A A rs143102400 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:167823649G>A uc001ger.3 - 17 2548 c.2250C>T c.(2248-2250)ctC>ctT p.L750L ADCY10_uc010plj.2_Silent_p.L597L|ADCY10_uc009wvk.3_Silent_p.L658L|ADCY10_uc009wvl.3_Silent_p.L749L NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 750 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GTTGGAAAACGAGTACCTCAT 0.443000 59 36 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136566965 136566965 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:136566965G>A uc002tuu.1 - 7 2963 c.2952C>T c.(2950-2952)ttC>ttT p.F984F NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 984 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TCCCAGTTGGGAAAATCCGAG 0.493000 33 14 0 0 1 0 0 OR52I2 143502 broad.mit.edu 37 11 4609094 4609094 + Silent SNP G A A rs139603676 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4609094G>A uc010qyh.2 + 0 1074 c.1052G>A c.(1051-1053)tGa>tAa p.*351* NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA. 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGGGTTCATGAACACAATAT 0.423000 85 44 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 51052998 51052998 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:51052998C>T uc002lfe.2 + 27 4739 c.4123C>T c.(4123-4125)Cct>Tct p.P1375S DCC_uc010dpf.2_Missense_Mutation_p.P1008S NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 1375 P -> H (in a colorectal carcinoma). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GCCCACTCTTCCTAAGACCCA 0.458000 100 29 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128363492 128363492 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:128363492A>G uc002top.3 + 19 2466 c.2413A>G c.(2413-2415)Aat>Gat p.N805D NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN Homo sapiens myosin VIIB (MYO7B), mRNA. 805 IQ 3. apical plasma membrane|myosin complex ATP binding|actin binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CAACAGGAGGAATTTCAAGCT 0.557000 17 12 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25008975 25008975 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:25008975G>A uc001upl.3 - 30 4410 c.4304C>T c.(4303-4305)cCc>cTc p.P1435L NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA. 1435 DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding p.P1435T(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) ATGAAGCTGGGGAGAATCCAG 0.512000 16 6 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180348096 180348096 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:180348096C>T uc002unn.4 - 5 1177 c.573G>A c.(571-573)acG>acA p.T191T ZNF385B_uc002unj.3_Silent_p.T89T|ZNF385B_uc002unl.3_Silent_p.T88T|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Silent_p.T115T NM_152520 NP_001106869 Q569K4 Z385B_HUMAN Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA. 191 nucleus nucleic acid binding|zinc ion binding p.T191T(2)|p.T191M(1) breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) GTTTATTTTTCGTTGCGTCTA 0.468000 48 16 0 0 1 0 0 MAPK9 5601 broad.mit.edu 37 5 179696318 179696318 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:179696318G>A uc003mls.4 - 2 485 c.214C>T c.(214-216)Cgt>Tgt p.R72C MAPK9_uc003mlv.4_Missense_Mutation_p.R72C|MAPK9_uc003mlt.4_Missense_Mutation_p.R72C|MAPK9_uc010jlc.3_Missense_Mutation_p.R72C|MAPK9_uc021yji.1_Missense_Mutation_p.R46C|MAPK9_uc021yjj.1_Missense_Mutation_p.R72C|MAPK9_uc021yjk.1_Missense_Mutation_p.R72C|MAPK9_uc021yjl.1_Missense_Mutation_p.R72C|MAPK9_uc011dgx.2_Missense_Mutation_p.R72C NM_002752 NP_002743 P45984 MK09_HUMAN Homo sapiens mitogen-activated protein kinase 9 (MAPK9), transcript variant JNK2-a2, mRNA. 72 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|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 cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAAGTTCACGATAAGCTCTC 0.348000 42 28 0 0 1 0 0 SEPP1 6414 broad.mit.edu 37 5 42807079 42807079 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:42807079G>A uc011cps.2 - 3 523 c.425C>T c.(424-426)cCt>cTt p.P142L SEPP1_uc011cpt.2_Missense_Mutation_p.P112L|SEPP1_uc011cpu.2_Missense_Mutation_p.P112L|SEPP1_uc003jna.3_Non-coding_Transcript NM_001093726 P49908 SEPP1_HUMAN Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA. 112 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 TTGATAAACAGGAATATGCTC 0.308000 25 10 0 0 1 0 0 HOXD9 3235 broad.mit.edu 37 2 176987716 176987716 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:176987716G>A uc010zex.2 + 0 304 c.220G>A c.(220-222)Gtg>Atg p.V74M NM_014213 NP_055028 P28356 HXD9_HUMAN Homo sapiens homeobox D9 (HOXD9), mRNA. 74 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) CAGATCGGCCGTGTTCTCTGC 0.761000 19 3 0 0 1 0 0 TRIP6 7205 broad.mit.edu 37 7 100466372 100466372 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:100466372G>A uc003uww.3 + 3 789 c.619G>A c.(619-621)Gaa>Aaa p.E207K TRIP6_uc010lhk.2_5'UTR|TRIP6_uc022aiv.1_Missense_Mutation_p.E186K|TRIP6_uc022ait.1_5'UTR|TRIP6_uc022aiu.1_5'UTR NM_003302 NP_003293 Q15654 TRIP6_HUMAN Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA. 207 focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) AGGCCGAGGTGAAGTCTGGGG 0.697000 5 5 0 0 1 0 0 DUSP4 1846 broad.mit.edu 37 8 29194925 29194925 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:29194925G>A uc003xhm.3 - 3 1275 c.803C>T c.(802-804)gCc>gTc p.A268V DUSP4_uc003xhl.3_Missense_Mutation_p.A177V NM_001394 NP_001385 Q13115 DUS4_HUMAN Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA. 268 Tyrosine-protein phosphatase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|endoderm formation|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|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 MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity endometrium(1)|large_intestine(1)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) GTCCTTCACGGCATCTGGGGA 0.662000 18 13 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75072263 75072263 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:75072263C>T uc009xrc.3 - 10 1382 c.1261G>A c.(1261-1263)Gat>Aat p.D421N TTC18_uc001jty.3_Missense_Mutation_p.D421N|TTC18_uc009xrd.1_Missense_Mutation_p.D229N NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA. 421 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CCATCTATATCCTTTTCTTTC 0.383000 83 43 0 0 1 0 0 LAIR2 3904 broad.mit.edu 37 19 55014950 55014950 + Splice_Site SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:55014950G>A uc002qgc.3 + 2 192 c.70_splice c.e2+1 p.G24_splice LAIR2_uc002qga.1_Splice_Site|LAIR2_uc002qgb.1_Intron|LAIR2_uc002qgd.3_Splice_Site_p.G24_splice|LAIR2_uc010erl.3_Splice_Site_p.G24_splice NM_002288 NP_002279 Q6ISS4 LAIR2_HUMAN Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA. 24 extracellular region receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) ACACGCAGGAGGGTAAGTCAT 0.572000 60 25 0 0 1 0 0 ECHDC3 79746 broad.mit.edu 37 10 11789354 11789354 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:11789354C>T uc001ikw.4 + 1 397 c.177C>T c.(175-177)atC>atT p.I59I ECHDC3_uc009xix.3_5'UTR NM_024693 NP_078969 Q96DC8 ECHD3_HUMAN Homo sapiens enoyl CoA hydratase domain containing 3 (ECHDC3), nuclear gene encoding mitochondrial protein, mRNA. 59 mitochondrion catalytic activity p.I59I(2) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1) 4 ACAGGAACATCGTCTTGAGCA 0.443000 35 18 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9013826 9013827 + Silent DNP CC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:9013826_9013827CC>TT uc001quz.4 + 27 3533_3534 c.3435_3436CC>TT c.(3433-3438)tccctg>tcTTtg p.1145_1146SL>SL A2ML1_uc001qva.1_Silent_p.725_726SL>SL|A2ML1_uc010sgm.2_Silent_p.645_646SL>SL NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 989 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 ACATTTTCTCCCTGGCTGGGGA 0.470000 93 45 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100208773 100208773 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:100208773G>A uc003hur.2 - 1 182 c.68C>T c.(67-69)tCc>tTc p.S23F LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.S23F NM_000667 NP_000658 P07327 ADH1A_HUMAN Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA. 23 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) CTCCTCAATGGAAAAGGGTTT 0.408000 38 23 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50461704 50461704 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:50461704C>T uc010ybh.2 - 7 1578 c.1487G>A c.(1486-1488)gGg>gAg p.G496E SIGLEC11_uc010ybi.2_Intron NM_052884 NP_443116 Q96RL6 SIG11_HUMAN Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA. 496 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) ACTGCTGTTCCCCTCCAGCAG 0.701000 11 6 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901754 51901754 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:51901754G>A uc002iua.2 + 0 1516 c.1360G>A c.(1360-1362)Gga>Aga p.G454R KIF2B_uc010wna.1_Non-coding_Transcript NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 454 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GAATGAAAGAGGAGCAGATAC 0.488000 24 18 0 0 1 0 0 ZNF132 7691 broad.mit.edu 37 19 58946342 58946343 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:58946342_58946343GG>AA uc002qst.4 - 2 869_870 c.468_469CC>TT c.(466-471)aacctt>aaTTtt p.L157F NM_003433 NP_003424 P52740 ZN132_HUMAN Homo sapiens zinc finger protein 132 (ZNF132), mRNA. 157 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) TGCTGGTGAAGGTTTGCATTCA 0.495000 51 20 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41763489 41763489 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:41763489G>A uc010ehj.3 + 18 2478 c.2288G>A c.(2287-2289)cGc>cAc p.R763H AXL_uc010ehk.3_Missense_Mutation_p.R754H NM_021913 NP_068713 P30530 UFO_HUMAN Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA. 763 Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GACTATCTGCGCCAGGGAAAT 0.562000 93 52 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142195337 142195337 + Missense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:142195337C>G uc003yvy.3 + 17 3082 c.2804C>G c.(2803-2805)aCc>aGc p.T935S DENND3_uc010mep.3_Missense_Mutation_p.T896S|DENND3_uc003ywa.1_5'UTR NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 935 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) TCTTCATGGACCATCCACCAG 0.498000 29 73 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17487808 17487808 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:17487808G>A uc002ngk.1 - 0 330 c.290C>T c.(289-291)gCc>gTc p.A97V NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA. 97 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTGCATGATGGCATCCTTGGC 0.632000 44 25 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58206784 58206784 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:58206784G>A uc010rkh.2 - 0 863 c.841C>T c.(841-843)Ccc>Tcc p.P281S NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA. 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) TTCAACATGGGAATGACTATG 0.423000 29 17 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1967762 1967762 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:1967762C>T uc021qsx.1 - 19 2220 c.1989G>A c.(1987-1989)ggG>ggA p.G663G CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.G527G NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 663 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CAGACGTGTTCCCCAGAAGGA 0.587000 50 12 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813782 106813782 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:106813782C>T uc003ymd.3 + 7 1495 c.1472C>T c.(1471-1473)tCt>tTt p.S491F ZFPM2_uc011lhs.2_Missense_Mutation_p.S222F NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 491 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.P490H(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ATTGGGCCTTCTTTCCCTGTG 0.443000 98 40 0 0 1 0 0 EXOG 9941 broad.mit.edu 37 3 38537972 38537972 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:38537972C>T uc003cih.2 + 0 210 c.114C>T c.(112-114)ttC>ttT p.F38F EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_5'UTR|EXOG_uc011ayq.1_Silent_p.F38F|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_5'UTR|EXOG_uc010hhe.2_5'UTR|EXOG_uc003cik.2_5'UTR NM_005107 NP_005098 Q9Y2C4 EXOG_HUMAN Homo sapiens endo/exonuclease (5'-3'), endonuclease G-like (EXOG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 38 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 17 CCCTGCAGTTCTTCCGGAGTC 0.672000 OREG0015479 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 16 0 0 1 0 0 TM4SF4 7104 broad.mit.edu 37 3 149216612 149216612 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:149216612A>G uc003exd.2 + 3 802 c.505A>G c.(505-507)Atc>Gtc p.I169V NM_004617 NP_004608 P48230 T4S4_HUMAN Homo sapiens transmembrane 4 L six family member 4 (TM4SF4), mRNA. 169 integral to membrane large_intestine(3)|lung(4)|ovary(1)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CGTAGGAGGAATCCAGATGGT 0.552000 47 21 0 0 1 0 0 CDK18 5129 broad.mit.edu 37 1 205495565 205495565 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:205495565C>T uc001hcr.3 + 6 994 c.732C>T c.(730-732)tcC>tcT p.S244S CDK18_uc010pri.2_3'UTR|CDK18_uc001hcp.3_Silent_p.S214S|CDK18_uc001hcq.3_Silent_p.S214S|CDK18_uc010prj.2_Silent_p.S125S|CDK18_uc001hcs.3_Silent_p.S125S|CDK18_uc009xbm.1_Silent_p.S125S NM_212503 NP_997668 Q07002 CDK18_HUMAN Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA. 212 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 CAGATCGGTCCCTCACCCTGG 0.592000 79 45 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33493245 33493245 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:33493245G>A uc002nuf.3 - 8 1079 c.1013C>T c.(1012-1014)cCc>cTc p.P338L RHPN2_uc010xro.2_Missense_Mutation_p.P187L|RHPN2_uc002nue.3_Missense_Mutation_p.P68L NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA. 338 BRO1. signal transduction perinuclear region of cytoplasm protein binding p.P338P(1) NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) CCAGGAGTAGGGGATGTTCTC 0.622000 59 23 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39554141 39554141 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:39554141G>A uc003oot.2 - 7 981 c.886C>T c.(886-888)Cct>Tct p.P296S KIF6_uc010jxa.1_Missense_Mutation_p.P87S|KIF6_uc011dua.1_Missense_Mutation_p.P296S|KIF6_uc010jxb.1_Missense_Mutation_p.P296S NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN Homo sapiens kinesin family member 6 (KIF6), mRNA. 296 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TTTCTATAAGGAATGTGCGAA 0.408000 59 88 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40980848 40980848 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:40980848C>T uc002xkg.3 - 9 1822 c.1638G>A c.(1636-1638)cgG>cgA p.R546R PTPRT_uc010ggj.3_Silent_p.R546R NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 546 Fibronectin type-III 3. 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 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) GGGTTTCATTCCGGAGCTTGA 0.562000 47 22 0 0 1 0 0 SFMBT1 51460 broad.mit.edu 37 3 52988355 52988355 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:52988355A>G uc003dgf.3 - 3 724 c.101T>C c.(100-102)gTt>gCt p.V34A SFMBT1_uc003dgg.3_Missense_Mutation_p.V34A|SFMBT1_uc003dgh.3_Missense_Mutation_p.V34A NM_001005159 NP_057413 Q9UHJ3 SMBT1_HUMAN Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA. 34 Antigenic epitope. regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CCCATAGGGAACTGCTGTGGA 0.348000 76 32 0 0 1 0 0 AGAP5 729092 broad.mit.edu 37 10 75435589 75435589 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:75435589C>T uc009xri.3 - 7 870 c.829G>A c.(829-831)Ggg>Agg p.G277R AGAP5_uc001juu.4_Missense_Mutation_p.G238R NM_001144000 NP_001137472 A6NIR3 AGAP5_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA. 277 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1) 12 CTGCCGCTCCCGATGGTGTCA 0.512000 92 41 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83438571 83438571 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:83438571C>T uc002bjd.2 - 7 1500 c.1333G>A c.(1333-1335)Gaa>Aaa p.E445K FSD2_uc010uol.1_Intron|FSD2_uc010uom.1_Intron NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA. 445 Fibronectin type-III 1. breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 ACCCAAAATTCATACTGGGTA 0.458000 54 25 0 0 1 0 0 C9orf3 84909 broad.mit.edu 37 9 97522337 97522337 + Nonsense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:97522337C>G uc004ava.3 + 0 407 c.272C>G c.(271-273)tCa>tGa p.S91* C9orf3_uc011lui.2_Non-coding_Transcript|C9orf3_uc004aux.2_Nonsense_Mutation_p.S91*|C9orf3_uc004auy.3_Nonsense_Mutation_p.S91*|C9orf3_uc004auz.1_Nonsense_Mutation_p.S91* NM_001193329 NP_001180258 Q8N6M6 AMPO_HUMAN Homo sapiens chromosome 9 open reading frame 3 (C9orf3), transcript variant 1, mRNA. 91 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AGGACCTTCTCATCTGAAATG 0.413000 27 29 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31040238 31040238 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:31040238C>T uc002nsu.1 + 3 3850 c.3712C>T c.(3712-3714)Ctt>Ttt p.L1238F ZNF536_uc010edd.1_Missense_Mutation_p.L1238F NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 1238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding 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) CAGCCAGGGTCTTCTCCAAGC 0.667000 11 11 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101924541 101924541 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:101924541C>T uc002bxa.2 - 10 1711 c.1397G>A c.(1396-1398)gGc>gAc p.G466D PCSK6_uc010bpd.3_Intron|PCSK6_uc002bwy.3_Missense_Mutation_p.G466D|PCSK6_uc010bpe.3_Missense_Mutation_p.G463D|PCSK6_uc002bxb.2_Missense_Mutation_p.G466D|PCSK6_uc002bxc.1_Missense_Mutation_p.G466D|PCSK6_uc002bxd.1_Missense_Mutation_p.G466D|PCSK6_uc002bxe.3_Missense_Mutation_p.G466D|PCSK6_uc002bxg.1_Missense_Mutation_p.G466D NM_138320 NP_612193 P29122 PCSK6_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA. 467 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATGACCCGCGCCGTTCACTTT 0.572000 9 9 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70980795 70980795 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:70980795C>T uc001swb.4 - 6 1679 c.1649G>A c.(1648-1650)gGa>gAa p.G550E PTPRB_uc010sto.2_Missense_Mutation_p.G550E|PTPRB_uc010stp.2_Missense_Mutation_p.G460E|PTPRB_uc001swc.4_Missense_Mutation_p.G768E|PTPRB_uc001swa.4_Missense_Mutation_p.G768E|PTPRB_uc001swd.4_Missense_Mutation_p.G767E|PTPRB_uc009zrr.2_Missense_Mutation_p.G647E NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 550 Fibronectin type-III 6. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ACCTGTTCTTCCTTTTACTGA 0.338000 37 13 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8591470 8591470 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:8591470C>T uc002mkg.3 - 23 2775 c.2637G>A c.(2635-2637)gtG>gtA p.V879V NM_012335 NP_036467 O00160 MYO1F_HUMAN Homo sapiens myosin IF (MYO1F), mRNA. 879 unconventional myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CCTCCTTCTTCACCCGAAACT 0.687000 0 2 0 0 1 0 0 DGCR2 9993 broad.mit.edu 37 22 19036100 19036100 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:19036100G>A uc002zoq.1 - 6 1107 c.859C>T c.(859-861)Cct>Tct p.P287S DGCR2_uc021wkx.1_Missense_Mutation_p.P284S|DGCR2_uc021wky.1_Missense_Mutation_p.P246S|DGCR2_uc021wkz.1_Missense_Mutation_p.P63S|DGCR2_uc011agr.1_Missense_Mutation_p.P243S|DGCR2_uc002zor.1_Missense_Mutation_p.P63S|DGCR11_uc002zos.2_5'Flank NM_005137 NP_005128 P98153 IDD_HUMAN Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA. 287 VWFC. cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) TCCCCCTTAGGGGTGAAGTAG 0.527000 235 298 0 0 1 0 0 CCKAR 886 broad.mit.edu 37 4 26483645 26483645 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:26483645G>A uc003gse.1 - 4 1055 c.902C>T c.(901-903)tCc>tTc p.S301F NM_000730 NP_000721 P32238 CCKAR_HUMAN Homo sapiens cholecystokinin A receptor (CCKAR), mRNA. 301 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) GTTGGCTGCGGAGCTGTTACT 0.617000 74 34 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115078818 115078818 + RNA SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:115078818G>A uc001eez.3 - 28 c.4825C>T NM_198459 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTAAGTCTGGAACGAATGTG 0.498000 25 16 0 0 1 0 0 AP2A2 161 broad.mit.edu 37 11 984707 984707 + Missense_Mutation SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:984707G>C uc001lst.2 + 6 981 c.768G>C c.(766-768)tgG>tgC p.W256C AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Missense_Mutation_p.W256C NM_001242837 NP_001229766 O94973 AP2A2_HUMAN Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA. 256 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity p.W256R(1) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) CGGCTCCCTGGCTGTCTGTCA 0.577000 135 50 0 0 1 0 0 MON1A 84315 broad.mit.edu 37 3 49950762 49950762 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:49950762C>T uc003cxz.3 - 1 435 c.309G>A c.(307-309)caG>caA p.Q103Q MON1A_uc003cya.3_Silent_p.Q103Q|MON1A_uc003cyb.2_Silent_p.Q103Q|MON1A_uc010hlb.2_Silent_p.Q103Q NM_032355 NP_115731 Q86VX9 MON1A_HUMAN Homo sapiens MON1 homolog A (yeast) (MON1A), transcript variant 1, mRNA. 6 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TTCTCTTCCTCTGCATGTCAG 0.512000 29 26 0 0 1 0 0 ERMAP 114625 broad.mit.edu 37 1 43308638 43308638 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:43308638C>T uc001cic.1 + 11 1433 c.1163C>T c.(1162-1164)tCt>tTt p.S388F ERMAP_uc001cid.1_Non-coding_Transcript|ERMAP_uc001cie.1_Missense_Mutation_p.S388F|ERMAP_uc001cif.1_Missense_Mutation_p.S298F NM_001017922 NP_061008 Q96PL5 ERMAP_HUMAN Homo sapiens erythroblast membrane-associated protein (Scianna blood group) (ERMAP), transcript variant 1, mRNA. 388 B30.2/SPRY. Missing (in Sc-3 allele). integral to membrane|plasma membrane p.S388F(2) breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CACAATTTCTCTGGCCCCCTT 0.453000 76 35 0 0 1 0 0 CSF1 1435 broad.mit.edu 37 1 110466781 110466781 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:110466781G>A uc001dyu.2 + 5 1951 c.1538G>A c.(1537-1539)gGa>gAa p.G513E CSF1_uc001dyt.2_Missense_Mutation_p.G397E|CSF1_uc021ori.1_Missense_Mutation_p.G215E|CSF1_uc001dyw.4_Missense_Mutation_p.G513E|CSF1_uc021orj.1_Missense_Mutation_p.G174E NM_172212 NP_757351 P09603 CSF1_HUMAN Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA. 513 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CTGGCCGTCGGAGGCCTCTTG 0.642000 20 14 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50148193 50148193 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:50148193C>T uc003cyg.3 + 16 1620 c.1445C>T c.(1444-1446)cCc>cTc p.P482L RBM5_uc011bdj.2_Missense_Mutation_p.P426L|RBM5_uc011bdk.2_Missense_Mutation_p.P310L|RBM5_uc003cyh.3_5'Flank NM_005778 NP_005769 P52756 RBM5_HUMAN Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA. 482 Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TATTATGACCCCAACTCGCAA 0.398000 43 28 0 0 1 0 0 BEX5 340542 broad.mit.edu 37 X 101408958 101408958 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:101408958G>A uc022cat.1 - 0 280 c.280C>T c.(280-282)Ctt>Ttt p.L94F BEX5_uc010nnz.3_Missense_Mutation_p.L94F|BEX5_uc004eir.3_Missense_Mutation_p.L94F NM_001159560 NP_001153032 Q5H9J7 BEX5_HUMAN Homo sapiens brain expressed, X-linked 5 (BEX5), transcript variant 2, mRNA. 94 cytoplasm large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 TCCCCTATAAGAATGCGCAGA 0.423000 17 32 0 0 1 0 0 X06774 0 broad.mit.edu 37 7 38370206 38370206 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:38370206C>T uc010kxj.1 - 1 228 c.92G>A c.(91-93)aGg>aAg p.R31K X06774_uc010kxk.1_Non-coding_Transcript Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA. CCCAGTTGGCCTGGTGACTGA 0.483000 42 22 0 0 1 0 0 LECT1 11061 broad.mit.edu 37 13 53298230 53298230 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:53298230G>A uc001vhf.2 - 3 481 c.370C>T c.(370-372)Cgt>Tgt p.R124C LECT1_uc001vhg.2_Missense_Mutation_p.R124C|LECT1_uc001vhh.2_Intron NM_007015 NP_008946 O75829 LECT1_HUMAN Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA. 124 BRICHOS. cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) CCAGCAAAACGAATTCCTGTG 0.438000 38 14 0 0 1 0 0 FHL5 9457 broad.mit.edu 37 6 97053802 97053802 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:97053802G>A uc003pos.2 + 4 775 c.359G>A c.(358-360)gGa>gAa p.G120E FHL5_uc003pot.2_Missense_Mutation_p.G120E NM_020482 NP_065228 Q5TD97 FHL5_HUMAN Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA. 120 LIM zinc-binding 2. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) GAATTTAAGGGAAACTACTGG 0.373000 15 20 0 0 1 0 0 HAUS5 23354 broad.mit.edu 37 19 36108086 36108086 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:36108086C>T uc002oam.1 + 6 597 c.546C>T c.(544-546)ccC>ccT p.P182P NM_015302 NP_056117 O94927 HAUS5_HUMAN Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA. 182 cell division|centrosome organization|mitosis|spindle assembly HAUS complex|centrosome|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 GCCTGGAGCCCGTGGTCCTGG 0.627000 38 9 0 0 1 0 0 BFSP1 631 broad.mit.edu 37 20 17475250 17475250 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:17475250G>A uc002wpo.3 - 7 1506 c.1467C>T c.(1465-1467)atC>atT p.I489I BFSP1_uc002wpp.3_Silent_p.I364I|BFSP1_uc010zrn.2_Silent_p.I350I|BFSP1_uc010zro.2_Silent_p.I350I NM_001195 NP_001186 Q12934 BFSP1_HUMAN Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA. 489 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 CTTTAGCTGTGATGGAGGAGA 0.557000 30 16 0 0 1 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092688 151092688 + Silent SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:151092688C>A uc022cgv.1 + 0 552 c.552C>A c.(550-552)ggC>ggA p.G184G MAGEA4_uc004fez.3_Silent_p.G184G|MAGEA4_uc004ffa.3_Silent_p.G184G|MAGEA4_uc004ffb.3_Silent_p.G184G|MAGEA4_uc022cgu.1_Silent_p.G212G|MAGEA4_uc004ffc.3_Silent_p.G184G|MAGEA4_uc004ffd.3_Silent_p.G184G NM_002362 NP_002353 P43358 MAGA4_HUMAN Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA. 184 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) CCTGCCTGGGCCTTTCCTATG 0.542000 15 50 2.89935e-36 2.95225e-36 1 1 0 ARMC4 55130 broad.mit.edu 37 10 28225719 28225719 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:28225719C>T uc009xky.3 - 14 2286 c.2188G>A c.(2188-2190)Gag>Aag p.E730K ARMC4_uc010qds.2_Missense_Mutation_p.E255K|ARMC4_uc010qdt.2_Missense_Mutation_p.E422K|ARMC4_uc001itz.3_Missense_Mutation_p.E730K NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 730 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GCTAACCGCTCTTTATTGTCA 0.453000 88 44 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164375 150164375 + Missense_Mutation SNP G A A rs147231393 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150164375G>A uc003whj.3 + 1 919 c.589G>A c.(589-591)Gga>Aga p.G197R NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 197 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding p.G197G(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GAATACGAACGGAGGACCCTA 0.423000 105 32 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394773 233394773 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:233394773C>T uc001hvl.2 - 4 1070 c.835G>A c.(835-837)Gag>Aag p.E279K PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 279 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ACTGAATTCTCACTCCCCCAC 0.522000 22 9 0 0 1 0 0 PCK2 5106 broad.mit.edu 37 14 24569397 24569397 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:24569397C>T uc001wlt.3 + 6 1341 c.1209C>T c.(1207-1209)tcC>tcT p.S403S NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Silent_p.S403S|PCK2_uc010tnw.2_Silent_p.S269S|PCK2_uc010ald.2_3'UTR|PCK2_uc010ale.2_3'UTR|PCK2_uc010tnx.2_Silent_p.S269S|PCK2_uc001wlu.4_Silent_p.S269S NM_004563 NP_004554 Q16822 PCKGM_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 403 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) CTGTGACCTCCTGGCTGGGCA 0.542000 17 11 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23217758 23217758 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:23217758G>A uc003xdh.1 - 2 715 c.376C>T c.(376-378)Ctc>Ttc p.L126F LOC100507156_uc003xdj.3_Intron NM_002318 NP_002309 Q9Y4K0 LOXL2_HUMAN Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA. 126 SRCR 1. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) GTACAGTGGAGATTGTCTAAC 0.577000 9 10 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76463687 76463687 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:76463687C>T uc003yaq.3 + 4 576 c.306C>T c.(304-306)ccC>ccT p.P102P HNF4G_uc003yar.3_Silent_p.P139P NM_004133 NP_004124 Q14541 HNF4G_HUMAN Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA. 102 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) GCAACATCCCCTCCATTAACA 0.448000 61 25 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140208418 140208418 + Missense_Mutation SNP G A A rs149898673 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140208418G>A uc003lho.2 + 0 769 c.742G>A c.(742-744)Gaa>Aaa p.E248K 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_uc003lhn.2_Missense_Mutation_p.E248K|PCDHAC2_uc011dab.2_Missense_Mutation_p.E248K NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 263 Cadherin 2. 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) GTCTGAATACGAAGTAAGAAT 0.453000 41 31 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16664973 16664973 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:16664973G>A uc002gqk.1 + 12 3683 c.3607G>A c.(3607-3609)Gaa>Aaa p.E1203K CCDC144A_uc002gql.1_Missense_Mutation_p.E719K|CCDC144A_uc010cpj.1_Non-coding_Transcript NM_014695 NP_055510 A2RUR9 C144A_HUMAN Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA. 1203 ACTGTTGATTGAAGAAAGAGC 0.348000 35 14 0 0 1 0 0 NUPL2 11097 broad.mit.edu 37 7 23239112 23239112 + Silent SNP A T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:23239112A>T uc003svu.3 + 5 904 c.645A>T c.(643-645)gcA>gcT p.A215A NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript|NUPL2_uc011jyx.2_5'UTR NM_007342 NP_031368 O15504 NUPL2_HUMAN Homo sapiens nucleoporin like 2 (NUPL2), mRNA. 215 carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATCAAGCAGCACCTGCATTTG 0.358000 68 36 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866196 139866196 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:139866196C>T uc004fbg.1 - 0 528 c.336G>A c.(334-336)ttG>ttA p.L112L AK054921_uc004fbf.1_Non-coding_Transcript NM_004065 NP_004056 P51861 CDR1_HUMAN Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA. 112 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CTATAGCTTCCAAAAAATCCG 0.448000 12 29 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46825222 46825222 + Splice_Site SNP C T T rs141145645 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:46825222C>T uc002peh.3 + 10 1366 c.1335_splice c.e10+1 p.S445_splice HIF3A_uc002peg.4_Splice_Site_p.S445_splice|HIF3A_uc010xxx.2_Splice_Site|HIF3A_uc021uwf.1_Splice_Site_p.S389_splice|HIF3A_uc002pej.2_Splice_Site_p.S376_splice|HIF3A_uc010xxy.2_Splice_Site_p.S376_splice|HIF3A_uc002pel.3_Splice_Site_p.S443_splice|HIF3A_uc010xxz.2_Splice_Site_p.S394_splice NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA. 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.S443L(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) AGTCCTCTTTCGGTAAGCCAT 0.627000 21 23 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24201559 24201559 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:24201559G>A uc021oij.1 - 0 549 c.549C>T c.(547-549)ttC>ttT p.F183F CNR2_uc001bif.3_Silent_p.F183F NM_001841 NP_001832 P34972 CNR2_HUMAN Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA. 183 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) GGATCAGTGGGAAAAGCTCAG 0.567000 27 11 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94487012 94487012 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:94487012C>T uc004arj.2 - 8 1963 c.1764G>A c.(1762-1764)gaG>gaA p.E588E ROR2_uc004ari.1_Silent_p.E448E NM_004560 NP_004551 Q01974 ROR2_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA. 588 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AGTCGGGGGGCTCCAGGGCGG 0.647000 10 21 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50157994 50157994 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:50157994C>T uc002poq.3 + 8 3609 c.3485C>T c.(3484-3486)tCc>tTc p.S1162F NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA. 1162 RNA splicing|mRNA processing nucleus RNA binding p.P1161P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CCTGGCCCCTCCAGCTACCTG 0.677000 55 33 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231112650 231112650 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:231112650G>A uc002vql.3 + 7 877 c.762G>A c.(760-762)atG>atA p.M254I SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Missense_Mutation_p.M254I|SP140_uc002vqn.3_Intron|SP140_uc002vqm.3_Missense_Mutation_p.M228I|SP140_uc010fxl.3_Missense_Mutation_p.M254I NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 254 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GCAACGGGATGATAGATGCGG 0.443000 88 56 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98002450 98002450 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:98002450G>A uc003dsj.1 + 0 719 c.719G>A c.(718-720)aGg>aAg p.R240K NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA. 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 AGAGGCGTAAGGAAAGCCTTT 0.408000 16 11 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85438184 85438184 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:85438184C>T uc002blg.3 + 5 493 c.291C>T c.(289-291)ttC>ttT p.F97F SLC28A1_uc010upd.1_Silent_p.F19F|SLC28A1_uc010bnb.3_Silent_p.F97F|SLC28A1_uc010upe.2_Silent_p.F97F|SLC28A1_uc010upf.1_Silent_p.F97F|SLC28A1_uc010upg.1_Silent_p.F97F|SLC28A1_uc002blf.3_Silent_p.F97F NM_004213 NP_004204 O00337 S28A1_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA. 97 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCTCTGCCTTCCTGCTGGTGG 0.642000 39 24 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128306884 128306884 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:128306884G>A uc003qbk.3 - 21 3597 c.3230C>T c.(3229-3231)cCc>cTc p.P1077L PTPRK_uc010kfc.3_Missense_Mutation_p.P1084L|PTPRK_uc003qbj.3_Missense_Mutation_p.P1078L|PTPRK_uc011ebu.2_Missense_Mutation_p.P1100L NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 1077 Tyrosine-protein phosphatase 1. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TACAACGATGGGGCCAGCACT 0.483000 19 27 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296060 20296061 + Missense_Mutation DNP GG AT AT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20296060_20296061GG>AT uc010tkv.2 + 0 453_454 c.453_454GG>AT c.(451-456)gggggt>ggATgt p.G152C NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTGGCTTGGGGGTTTTGTCCA 0.530000 160 38 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133152388 133152388 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:133152388G>A uc003ytj.3 - 10 1728 c.1503C>T c.(1501-1503)ggC>ggT p.G501G KCNQ3_uc003yti.3_Silent_p.G381G|KCNQ3_uc010mdt.3_Silent_p.G501G NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 501 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CATTCCCATAGCCCCTGTCTT 0.622000 14 40 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814278 123814278 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:123814278G>A uc010sab.2 - 0 268 c.268C>T c.(268-270)Cac>Tac p.H90Y NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA. 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GAGATGGTGTGATCCCCCGTG 0.493000 47 17 0 0 1 0 0 PLXDC2 84898 broad.mit.edu 37 10 20506484 20506484 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:20506484C>T uc001iqg.1 + 10 1889 c.1252C>T c.(1252-1254)Ccc>Tcc p.P418S PLXDC2_uc001iqh.1_Missense_Mutation_p.P369S|PLXDC2_uc009xkc.1_Non-coding_Transcript NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 418 Thr-rich. integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TTCTCAGTTTCCCACCAGCCT 0.438000 30 14 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135396605 135396605 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:135396605C>T uc003lbf.4 + 13 2047 c.1886C>T c.(1885-1887)aCc>aTc p.T629I TGFBI_uc003lbg.4_Missense_Mutation_p.T362I|TGFBI_uc003lbh.4_Missense_Mutation_p.T455I|TGFBI_uc011cyb.2_Missense_Mutation_p.T455I|TGFBI_uc010jee.3_5'Flank NM_000358 NP_000349 Q15582 BGH3_HUMAN Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA. 629 FAS1 4. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CATGTCATCACCAATGTTCTG 0.483000 25 12 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36277934 36277934 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:36277934G>A uc002obs.2 + 19 2223 c.2079G>A c.(2077-2079)caG>caA p.Q693Q ARHGAP33_uc002obr.2_Silent_p.Q854Q|ARHGAP33_uc002obt.2_Silent_p.Q718Q|ARHGAP33_uc002obv.1_Silent_p.Q442Q NM_052948 NP_443180 O14559 RHG33_HUMAN Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA. 748 Poly-Ser. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CCTGCCAGCAGGAGATGTGCA 0.701000 5 4 0 0 1 0 0 CAGE1 285782 broad.mit.edu 37 6 7374083 7374083 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:7374083G>A uc003mxl.2 - 4 1500 c.969C>T c.(967-969)atC>atT p.I323I CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Silent_p.I187I|CAGE1_uc003mxj.3_Silent_p.I78I|CAGE1_uc003mxk.2_Silent_p.I323I NM_001170692 NP_001164163 Q8TC20 CAGE1_HUMAN Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA. 323 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) GGAGTTCTTGGATTCGCACTT 0.378000 36 7 0 0 1 0 0 RTP2 344892 broad.mit.edu 37 3 187416329 187416329 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:187416329A>G uc003fro.1 - 1 1064 c.635T>C c.(634-636)gTt>gCt p.V212A NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA. 212 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) CAGGTAAACAACGAGCAGGCA 0.577000 16 11 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51735315 51735315 + Silent SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:51735315A>G uc003pah.1 - 46 7749 c.7473T>C c.(7471-7473)tgT>tgC p.C2491C PKHD1_uc010jzn.1_Silent_p.C474C|PKHD1_uc003pai.3_Silent_p.C2491C NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 2491 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GTCCTTGGGAACAGTCTGAAC 0.353000 79 18 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75227464 75227464 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:75227464G>A uc003yae.3 - 1 811 c.771C>T c.(769-771)atC>atT p.I257I JPH1_uc003yaf.3_Silent_p.I257I|JPH1_uc003yag.1_Silent_p.I121I NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN Homo sapiens junctophilin 1 (JPH1), mRNA. 257 Ser-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CGCCAAAGCTGATCGTGGAGT 0.562000 14 63 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 146991928 146991928 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:146991928G>A uc010jgo.1 - 18 2501 c.2353C>T c.(2353-2355)Cgt>Tgt p.R785C JAKMIP2_uc003loq.1_Missense_Mutation_p.R785C|JAKMIP2_uc011dbx.1_Missense_Mutation_p.R743C|JAKMIP2_uc003lor.1_Missense_Mutation_p.R764C|LOC153469_uc003lop.1_Intron NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA. 785 Golgi apparatus p.I784F(1) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTAAGTCACGAATTCTCTGA 0.299000 8 9 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36124729 36124729 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:36124729G>A uc021rid.1 + 41 7235 c.6701G>A c.(6700-6702)cGa>cAa p.R2234Q NBEA_uc021ric.1_Missense_Mutation_p.R2231Q|NBEA_uc010abi.3_Missense_Mutation_p.R890Q|NBEA_uc010tee.1_Missense_Mutation_p.R27Q|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.R27Q|NBEA_uc010teg.1_Missense_Mutation_p.R27Q NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 2234 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATGGCAAACCGAAGTAAGTCC 0.343000 16 7 0 0 1 0 0 MS4A10 341116 broad.mit.edu 37 11 60559761 60559761 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:60559761G>A uc001npz.1 + 3 423 c.327G>A c.(325-327)gcG>gcA p.A109A NM_206893 NP_996776 Q96PG2 M4A10_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA. 109 integral to membrane receptor activity p.L108L(1) endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 GGATCTTGGCGATAACAATGA 0.453000 75 36 0 0 1 0 0 TEF 7008 broad.mit.edu 37 22 41791933 41791933 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:41791933C>T uc011apa.2 + 3 982 c.896C>T c.(895-897)tCc>tTc p.S299F TEF_uc003azx.3_Missense_Mutation_p.S264F|TEF_uc003azy.3_Missense_Mutation_p.S294F NM_001145398 NP_001138870 Q10587 TEF_HUMAN Homo sapiens thyrotrophic embryonic factor (TEF), transcript variant 2, mRNA. 294 rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 ACCATCGTGTCCAAGTATGAG 0.642000 89 22 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32039945 32039945 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:32039945G>A uc003nzl.2 - 12 5014 c.4812C>T c.(4810-4812)ttC>ttT p.F1604F NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1686 Fibronectin type-III 8. 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 CAAAGGAGTCGAATTCACCCT 0.612000 19 31 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238275601 238275601 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:238275601G>A uc002vwl.2 - 10 5514 c.5229C>T c.(5227-5229)gtC>gtT p.V1743V COL6A3_uc002vwo.2_Silent_p.V1537V|COL6A3_uc010znj.1_Silent_p.V1136V NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1743 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CAATCTGAGGGACCCGCTGGT 0.587000 33 21 0 0 1 0 0 UPB1 51733 broad.mit.edu 37 22 24896075 24896075 + Splice_Site SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:24896075G>A uc003aaf.3 + 2 1400 c.105_splice c.e2-1 p.R35_splice UPB1_uc003aae.3_Intron NM_016327 NP_057411 Q9UBR1 BUP1_HUMAN Homo sapiens ureidopropionase, beta (UPB1), mRNA. 35 pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) GCCCATCTAGGAAGCTTGATC 0.488000 95 28 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67404995 67404995 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:67404995G>A uc002esv.3 + 8 1363 c.1344G>A c.(1342-1344)cgG>cgA p.R448R LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc010ceh.3_Silent_p.R180R|LRRC36_uc002esx.3_Silent_p.R327R|LRRC36_uc010vjk.2_Silent_p.R327R|LRRC36_uc010vjl.2_5'UTR NM_018296 NP_060766 Q1X8D7 LRC36_HUMAN Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA. 448 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) CTCCTCTGCGGACACTGCTGT 0.463000 35 19 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854660 18854660 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:18854660C>T uc021qvx.1 - 7 1106 c.915G>A c.(913-915)aaG>aaA p.K305K PLCZ1_uc001rdv.4_Silent_p.K201K|PLCZ1_uc001rdw.4_Silent_p.K46K|PLCZ1_uc001rdu.1_Silent_p.K46K|PLCZ1_uc009zil.1_Non-coding_Transcript NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA. 305 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CATGGGTTTCCTTTAAGGTTC 0.383000 16 7 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 169099283 169099283 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:169099283C>T uc011bpj.1 - 1 470 c.67G>A c.(67-69)Gaa>Aaa p.E23K MECOM_uc003ffl.2_5'UTR|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.E23K|MECOM_uc011bpl.1_Missense_Mutation_p.E23K NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 23 sequence-specific DNA binding transcription factor activity p.R22C(1)|p.C23*(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 AAAGGTATTTCAGGGTAGTTG 0.433000 14 8 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187696 152187696 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:152187696C>T uc001ezt.1 - 2 6485 c.6409G>A c.(6409-6411)Ggc>Agc p.G2137S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 2137 keratinization calcium ion binding|protein binding p.G2137C(2) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATCTAGAGCCGTGTTGTCCG 0.562000 601 23 0 0 1 0 0 RBFA 79863 broad.mit.edu 37 18 77805969 77805969 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:77805969C>T uc002lns.3 + 6 996 c.846C>T c.(844-846)gcC>gcT p.A282A RBFA_uc010drh.3_3'UTR|RBFA_uc010dri.2_Intron|RBFA_uc002lnu.3_5'Flank NM_024805 NP_079081 Q8N0V3 RBFA_HUMAN Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 282 rRNA processing mitochondrion endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 GGAAGAGGGCCAAGCCCCGCC 0.587000 39 10 0 0 1 0 0 FAM83A 84985 broad.mit.edu 37 8 124195386 124195386 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:124195386C>T uc003ypv.3 + 1 2304 c.290C>T c.(289-291)tCc>tTc p.S97F FAM83A_uc003ypw.3_Missense_Mutation_p.S97F|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Missense_Mutation_p.S97F|FAM83A_uc003ypy.3_Missense_Mutation_p.S97F|FAM83A_uc003ypz.3_Missense_Mutation_p.S97F NM_032899 NP_116288 Q86UY5 FA83A_HUMAN Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA. 97 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GGACTGGACTCCAGCTCCCTA 0.677000 9 91 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117128105 117128105 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:117128105C>T uc003pxj.1 - 2 785 c.763G>A c.(763-765)Gaa>Aaa p.E255K GPRC6A_uc003pxk.1_Missense_Mutation_p.E255K|GPRC6A_uc003pxl.1_Missense_Mutation_p.E255K NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 255 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ATTCTGACTTCAATGGTATTA 0.373000 12 17 0 0 1 0 0 TTLL11 158135 broad.mit.edu 37 9 124855690 124855690 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:124855690G>A uc011lyl.2 - 0 196 c.8C>T c.(7-9)gCc>gTc p.A3V TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc004blt.1_Missense_Mutation_p.A3V|TTLL11_uc004blu.1_Missense_Mutation_p.A3V NM_001139442 NP_001132914 Q8NHH1 TTL11_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA. 3 protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 AGAGGCAGCGGCGGCCATGTT 0.697000 0 2 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138449932 138449932 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:138449932G>A uc003ihe.4 - 1 2917 c.2530C>T c.(2530-2532)Cag>Tag p.Q844* PCDH18_uc003ihf.4_Nonsense_Mutation_p.Q836*|PCDH18_uc011cgz.2_Nonsense_Mutation_p.Q55*|PCDH18_uc003ihg.4_Nonsense_Mutation_p.Q623*|PCDH18_uc011cha.2_Nonsense_Mutation_p.Q24* NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 844 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Y843C(1) 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) GGTCTTGGCTGATATTGCCCC 0.408000 63 48 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42992432 42992432 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:42992432C>T uc021tyh.1 - 0 489 c.423G>A c.(421-423)agG>agA p.R141R GFAP_uc002ihq.3_Silent_p.R141R|GFAP_uc002ihr.3_Silent_p.R141R|GFAP_uc010wjg.2_Non-coding_Transcript NM_001242376 NP_001229305 P14136 GFAP_HUMAN Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA. 141 Coil 1B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) CCAGATTGTCCCTCTCAACCT 0.637000 28 10 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124391388 124391389 + Missense_Mutation DNP CC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:124391388_124391389CC>TT uc001lgk.1 + 46 6083_6084 c.5977_5978CC>TT c.(5977-5979)cct>TTt p.P1993F DMBT1_uc001lgl.1_Missense_Mutation_p.P1983F|DMBT1_uc001lgm.1_Missense_Mutation_p.P1365F|DMBT1_uc021qaf.1_Missense_Mutation_p.P1993F|DMBT1_uc021qag.1_Missense_Mutation_p.P1983F|DMBT1_uc021qah.1_Missense_Mutation_p.P1365F|DMBT1_uc009xzz.1_Missense_Mutation_p.P1993F|DMBT1_uc010qtx.1_Missense_Mutation_p.P713F|DMBT1_uc009yab.1_Missense_Mutation_p.P696F|DMBT1_uc009yac.1_Missense_Mutation_p.P287F NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1993 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCTATCGACACCTGGTAAGTCC 0.495000 21 12 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58285260 58285260 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:58285260G>A uc002aex.3 - 5 840 c.567C>T c.(565-567)ccC>ccT p.P189P ALDH1A2_uc010ugv.2_Silent_p.P168P|ALDH1A2_uc002aey.3_Silent_p.P189P|ALDH1A2_uc010ugw.2_Silent_p.P160P|ALDH1A2_uc002aew.3_Silent_p.P93P NM_003888 NP_733798 O94788 AL1A2_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA. 189 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) ACATCAGCAGGGGGAAGTTCC 0.413000 28 14 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13719087 13719087 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13719087G>A uc003jfd.2 - 71 12445 c.12403C>T c.(12403-12405)Cat>Tat p.H4135Y DNAH5_uc003jfc.2_Missense_Mutation_p.H303Y NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4135 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.A4134S(1) 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) AACTGCTTATGAGCCTCGGTG 0.468000 Kartagener syndrome 53 28 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460166 107460166 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:107460166G>A uc002tdq.3 - 1 387 c.268C>T c.(268-270)Cat>Tat p.H90Y ST6GAL2_uc002tdr.3_Missense_Mutation_p.H90Y|ST6GAL2_uc002tds.3_Missense_Mutation_p.H90Y NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 90 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.H90Y(4) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GGCCCCGCATGAAAGGAACCG 0.627000 32 7 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127686 117127686 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:117127686C>T uc003pxj.1 - 2 1204 c.1182G>A c.(1180-1182)agG>agA p.R394R GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Silent_p.R394R NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 394 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGACGAAGTTCCTTTCTATAG 0.443000 23 17 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348316 89348316 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:89348316G>A uc002fmx.1 - 8 5095 c.4634C>T c.(4633-4635)cCa>cTa p.P1545L ANKRD11_uc002fmy.1_Missense_Mutation_p.P1545L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1545L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1502L NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 1545 Lys-rich. nucleus p.P1545Q(2) breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CATCTTCACTGGGTCGCCCTT 0.587000 27 18 0 0 1 0 0 VNN1 8876 broad.mit.edu 37 6 133035073 133035073 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:133035073C>T uc003qdo.3 - 0 122 c.102G>A c.(100-102)gcG>gcA p.A34A NM_004666 NP_004657 O95497 VNN1_HUMAN Homo sapiens vanin 1 (VNN1), mRNA. 34 CN hydrolase. acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) TGGGCAATATCGCTGCATGCT 0.483000 18 21 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219294039 219294039 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:219294039A>G uc002vib.3 + 5 621 c.599A>G c.(598-600)cAg>cGg p.Q200R VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.Q200R|VIL1_uc002vic.1_Missense_Mutation_p.Q200R NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 200 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATCCGAGACCAGGAGCGGGGA 0.622000 62 38 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115395406 115395406 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:115395406G>A uc003ebr.2 + 2 1359 c.685G>A c.(685-687)Gcc>Acc p.A229T GAP43_uc003ebq.2_Missense_Mutation_p.A193T NM_001130064 NP_001123536 P17677 NEUM_HUMAN Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA. 193 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) CAAGGCAACAGCCCAGCCTCC 0.612000 12 4 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144886751 144886751 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:144886751G>A uc003yzp.1 - 20 3003 c.2996C>T c.(2995-2997)cCa>cTa p.P999L SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.P999L NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 999 Interaction with ARHGEF7. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CACTGGGTATGGCCCTTCCAA 0.672000 6 25 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151085968 151085968 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:151085968C>T uc003eyp.3 + 22 3503 c.3374C>T c.(3373-3375)gCg>gTg p.A1125V MED12L_uc011bnz.2_Missense_Mutation_p.A985V|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A288V NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 1125 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.G1124G(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GAGCCTGGGGCGAGAATGACA 0.512000 30 19 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55224545 55224545 + RNA SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:55224545G>A uc002qgs.1 + 0 c.4945G>A LILRP2_uc002qgt.1_Intron Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. CAGGGGTCCCGGGTGATGTTG 0.607000 18 12 0 0 1 0 0 OR5K3 403277 broad.mit.edu 37 3 98109615 98109615 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:98109615C>T uc011bgw.2 + 0 106 c.106C>T c.(106-108)Ctg>Ttg p.L36L NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA. 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 TGCCATCTATCTGATCACCAT 0.403000 129 62 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106121871 106121872 + Missense_Mutation DNP GT AG AG TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:106121871_106121872GT>AG uc001kyh.3 + 2 516_517 c.382_383GT>AG c.(382-384)gtg>AGg p.V128R NM_001008723 NP_001008723 Q5T655 CC147_HUMAN Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA. 128 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) AGAGGAAATAGTGAACCTGACC 0.465000 16 5 0 0 1 0 0 POU6F1 5463 broad.mit.edu 37 12 51585513 51585513 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:51585513G>A uc001rxy.3 - 3 618 c.426C>T c.(424-426)atC>atT p.I142I POU6F1_uc001rxz.3_Silent_p.I142I|POU6F1_uc001rya.3_Silent_p.I142I NM_002702 NP_002693 Q14863 PO6F1_HUMAN Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA. 142 POU-specific. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 CTTCTAAGTTGATCCCATCCT 0.552000 94 67 0 0 1 0 0 ACPT 93650 broad.mit.edu 37 19 51295018 51295018 + Missense_Mutation SNP A T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:51295018A>T uc002pta.1 + 3 409 c.409A>T c.(409-411)Agg>Tgg p.R137W NM_033068 NP_149059 Q9BZG2 PPAT_HUMAN Homo sapiens acid phosphatase, testicular (ACPT), mRNA. 137 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GGCCCGCTGGAGGCCGATCCC 0.697000 11 6 0 0 1 0 0 ZNF57 126295 broad.mit.edu 37 19 2917901 2917901 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:2917901A>G uc002lwr.3 + 3 1430 c.1282A>G c.(1282-1284)Acc>Gcc p.T428A ZNF57_uc010xha.2_Missense_Mutation_p.T396A NM_173480 NP_775751 Q68EA5 ZNF57_HUMAN Homo sapiens zinc finger protein 57 (ZNF57), mRNA. 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) ATGTGGAAAAACCTTCACTTG 0.453000 75 3 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2526745 2526745 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:2526745C>T uc001ajy.2 - 15 1768 c.1554G>A c.(1552-1554)atG>atA p.M518I MMEL1_uc009vlg.1_Non-coding_Transcript NM_033467 NP_258428 Q495T6 MMEL1_HUMAN Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA. 518 M -> T (in dbSNP:rs3748816). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GGCGCCTGTTCATCTCCTCCA 0.652000 36 16 0 0 1 0 0 TCEAL6 158931 broad.mit.edu 37 X 101396257 101396257 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:101396257C>T uc022cas.1 - 0 47 c.47G>A c.(46-48)gGa>gAa p.G16E TCEAL6_uc004eiq.3_Missense_Mutation_p.G16E NM_001006938 NP_001006939 Q6IPX3 TCAL6_HUMAN Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA. 16 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 14 ttctggctttccctcGTTTTC 0.478000 2 9 0 0 1 0 0 CCR1 1230 broad.mit.edu 37 3 46245276 46245276 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:46245276C>T uc003cph.1 - 1 600 c.529G>A c.(529-531)Gaa>Aaa p.E177K CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.E177K NM_001295 NP_001286 P32246 CCR1_HUMAN Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA. 177 G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) TGAGTGAATTCCCATTGGGTC 0.512000 50 16 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5020494 5020494 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:5020494C>T uc010qyu.2 + 0 282 c.282C>T c.(280-282)atC>atT p.I94I NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA. 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCCAGAGATCCAGGCAAGTG 0.478000 89 34 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37465198 37465198 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:37465198G>A uc003aqt.1 - 15 2090 c.2028C>T c.(2026-2028)cgC>cgT p.R676R TMPRSS6_uc003aqs.1_Silent_p.R685R NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA. 685 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 GGCAGACGGGGCGCACGGCGG 0.726000 6 3 0 0 1 0 0 COPS2 9318 broad.mit.edu 37 15 49447856 49447856 + Splice_Site SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:49447856C>T uc001zxh.3 - 1 1 c.-78_splice c.e1-1 GALK2_uc001zxi.1_5'Flank|COPS2_uc001zxf.3_Splice_Site|COPS2_uc010ufa.2_Splice_Site|LOC100306975_uc021sks.1_5'Flank NM_001143887 NP_001137359 P61201 CSN2_HUMAN Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA. cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2) 18 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) CTCTCAGCTTCTTTCCGCCTT 0.542000 6 3 0 0 1 0 0 MEPE 56955 broad.mit.edu 37 4 88766509 88766509 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:88766509C>T uc021xpx.1 + 3 594 c.582C>T c.(580-582)ctC>ctT p.L194L MEPE_uc021xpu.1_Silent_p.L163L|MEPE_uc021xpv.1_Silent_p.L50L|MEPE_uc021xpw.1_Silent_p.L50L|MEPE_uc010ikn.3_Silent_p.L50L|MEPE_uc003hqy.3_Silent_p.L163L|MEPE_uc021xpy.1_Silent_p.L50L NM_001184697 NP_001171626 Q9NQ76 MEPE_HUMAN Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA. 163 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) CGATTAAACTCCTGGGGGAAG 0.403000 32 24 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113314071 113314071 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:113314071C>T uc003ynu.3 - 52 8550 c.8391G>A c.(8389-8391)agG>agA p.R2797R CSMD3_uc003yns.3_Silent_p.R1999R|CSMD3_uc003ynt.3_Silent_p.R2757R|CSMD3_uc011lhx.2_Silent_p.R2628R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2797 Sushi 17. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAAGGCATTCCCTTACAGCAG 0.443000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 81 17 0 0 1 0 0 RG9MTD2 93587 broad.mit.edu 37 4 100475086 100475086 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:100475086G>A uc003huy.3 - 5 814 c.501C>T c.(499-501)atC>atT p.I167I RG9MTD2_uc003huz.4_Silent_p.I167I|RG9MTD2_uc003hva.4_Silent_p.I167I NM_152292 NP_689505 Q8TBZ6 RG9D2_HUMAN Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA. 167 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(123;1.7e-08) GTTTGATATGGATATCCTTTA 0.323000 38 17 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936029 4936029 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4936029G>A uc001lzr.1 - 0 865 c.865C>T c.(865-867)Cct>Tct p.P289S NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA. 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCACAGGAGGAAAGAGAAGA 0.493000 19 15 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69978308 69978308 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:69978308G>A uc003heg.4 + 5 1490 c.1444G>A c.(1444-1446)Gac>Aac p.D482N UGT2B7_uc010ihq.3_3'UTR NM_001074 NP_001065 P16662 UD2B7_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA. 482 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGCAGCCCACGACCTCACCTG 0.483000 119 66 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38797299 38797299 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:38797299G>A uc003ciq.3 - 9 1441 c.1441C>T c.(1441-1443)Cct>Tct p.P481S NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 481 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) tGGTTGTAAGGATCAGAGCGG 0.488000 99 48 0 0 1 0 0 RLN3 117579 broad.mit.edu 37 19 14141657 14141657 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:14141657G>A uc002mxw.1 + 1 326 c.326G>A c.(325-327)gGa>gAa p.G109E IL27RA_uc002mxx.3_5'Flank|RLN3_uc010dzj.1_3'UTR NM_080864 NP_543140 Q8WXF3 REL3_HUMAN Homo sapiens relaxin 3 (RLN3), mRNA. 109 extracellular region hormone activity endometrium(1)|lung(4) 5 AGCTGGCAAGGAACCCCTGGG 0.622000 30 18 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179574513 179574513 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179574513G>A uc021vsy.1 - 95 25026 c.24801C>T c.(24799-24801)ttC>ttT p.F8267F TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F4928F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9194 Ig-like 65. 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) CCTCAAGTTTGAAAGAATTCC 0.383000 49 30 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32039967 32039967 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:32039967C>T uc003nzl.2 - 12 4992 c.4790G>A c.(4789-4791)tGg>tAg p.W1597* NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1679 Fibronectin type-III 8. 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 AGGGACTGTCCATGAGAGGCC 0.632000 14 41 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656689 40656689 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:40656689G>A uc002rrx.3 - 0 756 c.732C>T c.(730-732)atC>atT p.I244I SLC8A1_uc002rry.3_Silent_p.I244I|SLC8A1_uc002rsb.2_Silent_p.I244I|SLC8A1_uc002rrz.3_Silent_p.I244I|SLC8A1_uc002rsa.3_Silent_p.I244I|SLC8A1_uc002rsd.4_Silent_p.I244I|SLC8A1_uc010fan.1_Silent_p.I244I|SLC8A1_uc002rsc.1_Silent_p.I244I NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 244 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ACACAACACAGATGGGAAAGA 0.448000 32 14 0 0 1 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518394 84518394 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:84518394C>T uc010ffz.1 + 0 589 c.452C>T c.(451-453)tCc>tTc p.S151F Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA. GGCATGGCATCCTAAAGAAGA 0.473000 70 45 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118199214 118199214 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:118199214G>A uc001two.2 - 3 556 c.501C>T c.(499-501)tcC>tcT p.S167S NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 196 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGGGCTCTGGGAGAGATGGG 0.652000 18 13 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143806751 143806751 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:143806751C>T uc011ktz.2 + 0 76 c.76C>T c.(76-78)Ctc>Ttc p.L26F NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L25I(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GGCGATTCTCCTCTGTGGACT 0.512000 88 61 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43858458 43858458 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:43858458C>T uc010skx.2 - 9 1445 c.1445G>A c.(1444-1446)cGa>cAa p.R482Q NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 482 Disintegrin. proteinaceous extracellular matrix zinc ion binding p.R482Q(3)|p.S481L(1) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCCATCATATCGTGATCCAGG 0.383000 45 28 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37708421 37708421 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:37708421C>T uc004aag.1 + 3 329 c.285C>T c.(283-285)ttC>ttT p.F95F FRMPD1_uc004aah.1_Silent_p.F95F NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA. 95 PDZ. cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GCAAGCTTTTCCCTGGTGATC 0.483000 55 36 0 0 1 0 0 TSHB 7252 broad.mit.edu 37 1 115576716 115576716 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:115576716T>A uc001efs.1 + 2 353 c.285T>A c.(283-285)ttT>ttA p.F95L NM_000549 NP_000540 P01222 TSHB_HUMAN Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA. 95 G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) CTCCCTATTTTTCCTATCCTG 0.428000 129 74 0 0 1 0 0 C16orf59 80178 broad.mit.edu 37 16 2514543 2514543 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:2514543C>T uc002cqh.3 + 9 1207 c.1176C>T c.(1174-1176)ctC>ctT p.L392L C16orf59_uc002cqg.2_3'UTR|C16orf59_uc002cqi.3_Silent_p.L225L|C16orf59_uc010uwb.2_3'UTR NM_025108 NP_079384 Q7L2K0 CP059_HUMAN Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA. 392 lung(1)|skin(1)|urinary_tract(1) 3 Ovarian(90;0.17) CTGAACTCCTCCCCCTGGTAA 0.706000 16 18 0 0 1 0 0 SPATA8 145946 broad.mit.edu 37 15 97326937 97326937 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:97326937G>A uc002bue.3 + 0 259 c.52G>A c.(52-54)Gaa>Aaa p.E18K DQ596112_uc021swx.1_5'Flank|DQ574554_uc021swy.1_5'Flank|DQ593500_uc010uro.1_5'Flank|DQ573064_uc021swz.1_5'Flank|DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank NM_173499 NP_775770 Q6RVD6 SPAT8_HUMAN Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA. 18 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) TCTCTACCAGGAAATTGCCCC 0.552000 31 14 0 0 1 0 0 PPARA 5465 broad.mit.edu 37 22 46628055 46628055 + Missense_Mutation SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:46628055G>C uc003bhb.1 + 5 1201 c.1078G>C c.(1078-1080)Gat>Cat p.D360H PPARA_uc003bgw.1_Missense_Mutation_p.D360H|PPARA_uc003bgx.1_Missense_Mutation_p.D360H|PPARA_uc010hab.1_Missense_Mutation_p.D360H|PPARA_uc010hac.1_Missense_Mutation_p.D157H NM_005036 NP_005027 Q07869 PPARA_HUMAN Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA. 360 Ligand-binding.|Required for heterodimerization with RXRA. fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) ACCCAAGTTTGATTTTGCCAT 0.423000 206 43 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220804394 220804394 + Silent SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:220804394A>G uc009xdw.3 + 9 1524 c.927A>G c.(925-927)cgA>cgG p.R309R MARK1_uc001hmn.4_Silent_p.R309R|MARK1_uc010pun.2_Silent_p.R309R|MARK1_uc001hmm.4_Silent_p.R287R NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA. 309 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) TGAAAGATCGATGGATGAATG 0.333000 61 3 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17110191 17110191 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:17110191C>T uc001ioo.3 - 20 2932 c.2880G>A c.(2878-2880)tgG>tgA p.W960* NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 960 CUB 5. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTAATATATGCCAAGTACAGT 0.383000 83 41 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160039797 160039797 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:160039797C>T uc003lym.1 - 17 3636 c.2789G>A c.(2788-2790)aGa>aAa p.R930K ATP10B_uc010jit.1_Missense_Mutation_p.R247K|ATP10B_uc003lyn.3_Missense_Mutation_p.R488K NM_025153 NP_079429 O94823 AT10B_HUMAN Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA. 930 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATTTAACAGTCTGCAGGAATG 0.483000 56 28 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124459229 124459229 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:124459229C>T uc001lgn.3 - 0 110 c.78G>A c.(76-78)aaG>aaA p.K26K NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA. 26 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) GCTTTTCATTCTTCCTTTCTT 0.448000 43 22 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196794676 196794676 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:196794676C>T uc001gtn.3 + 1 242 c.128C>T c.(127-129)tCc>tTc p.S43F CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Intron NM_002113 NP_002104 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 1 (CFHR1), mRNA. 43 Sushi 1. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 AAGCCATTTTCCCAGGTTCCT 0.328000 5 15 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123319015 123319015 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:123319015C>T uc003pzi.1 + 1 962 c.93C>T c.(91-93)atC>atT p.I31I NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN Homo sapiens clavesin 2 (CLVS2), mRNA. 31 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.D30A(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 ACCAGGACATCCAGGAGGTGA 0.547000 16 15 0 0 1 0 0 FCN2 2220 broad.mit.edu 37 9 137772724 137772724 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:137772724C>T uc004cfg.1 + 0 67 c.57C>T c.(55-57)ttC>ttT p.F19F FCN2_uc004cfh.1_Silent_p.F19F NM_004108 NP_004099 Q15485 FCN2_HUMAN Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA. 19 complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) TGCTCTCTTTCCTGGGCATGG 0.612000 11 8 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890037 55890037 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55890037C>T uc001nii.1 + 0 189 c.189C>T c.(187-189)ttC>ttT p.F63F NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F63V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TGTATTTTTTCCTTACTCACC 0.428000 157 81 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53071640 53071640 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:53071640G>A uc003xqz.2 - 9 1780 c.1624C>T c.(1624-1626)Cct>Tct p.P542S ST18_uc011ldq.1_Missense_Mutation_p.P189S|ST18_uc011ldr.1_Missense_Mutation_p.P507S|ST18_uc011lds.1_Missense_Mutation_p.P447S|ST18_uc003xra.2_Missense_Mutation_p.P542S|ST18_uc003xrb.2_Missense_Mutation_p.P542S NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 542 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AGTCGATTAGGAAATTTCACT 0.438000 19 41 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155163822 155163822 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:155163822G>A uc003inw.2 - 21 5679 c.5679C>T c.(5677-5679)ctC>ctT p.L1893L NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 1893 Cadherin 17. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CTTCAGAGGGGAGAAAAGCTG 0.393000 57 25 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230898459 230898459 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:230898459G>A uc001htz.1 + 3 576 c.463G>A c.(463-465)Gac>Aac p.D155N CAPN9_uc009xfg.1_Missense_Mutation_p.D92N|CAPN9_uc001hua.1_Missense_Mutation_p.D155N NM_006615 NP_006606 O14815 CAN9_HUMAN Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA. 155 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CACCTTCAGGGACCGCTTGGT 0.572000 20 20 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174870065 174870065 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:174870065C>T uc003mcz.3 - 1 983 c.38G>A c.(37-39)gGg>gAg p.G13E DRD1_uc021yia.1_Missense_Mutation_p.G13E NM_000794 NP_000785 P21728 DRD1_HUMAN Homo sapiens dopamine receptor D1 (DRD1), mRNA. 13 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding p.G13W(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) CACCACCAGCCCAGTCCCGTC 0.572000 84 36 0 0 1 0 0 OR7D2 162998 broad.mit.edu 37 19 9297013 9297013 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9297013C>T uc002mkz.1 + 0 744 c.556C>T c.(556-558)Cag>Tag p.Q186* NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA. 186 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 GTACATCCTCCAGCTGGCCTG 0.433000 132 64 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45026797 45026797 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:45026797G>A uc010ejn.1 - 3 633 c.617C>T c.(616-618)tCc>tTc p.S206F CEACAM20_uc010ejo.1_Missense_Mutation_p.S206F|CEACAM20_uc010ejp.1_Missense_Mutation_p.S206F|CEACAM20_uc010ejq.1_Missense_Mutation_p.S206F NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA. 206 Ig-like C2-type 2. integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) AGACAGAATGGAGTCAAGGAG 0.537000 21 10 0 0 1 0 0 CD300A 11314 broad.mit.edu 37 17 72469803 72469803 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:72469803C>T uc002jkv.3 + 1 490 c.169C>T c.(169-171)Cta>Tta p.L57L CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN Homo sapiens CD300a molecule (CD300A), mRNA. 57 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 ACAGATTTTCCTATGTGACAA 0.552000 34 27 0 0 1 0 0 SIAH3 283514 broad.mit.edu 37 13 46357741 46357741 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:46357741G>A uc001vap.3 - 1 669 c.587C>T c.(586-588)gCc>gTc p.A196V NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA. 196 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 GAAGCAGTCGGCCTGGGTGGG 0.592000 12 10 0 0 1 0 0 RTN2 6253 broad.mit.edu 37 19 45997989 45997990 + Missense_Mutation DNP GG AA AA rs146872063 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:45997989_45997990GG>AA uc002pcb.3 - 2 583_584 c.353_354CC>TT c.(352-354)tcc>tTT p.S118F RTN2_uc002pcc.3_Missense_Mutation_p.S118F|RTN2_uc002pcd.3_Non-coding_Transcript NM_005619 NP_005610 O75298 RTN2_HUMAN Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA. 118 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) CAGGCTCCGGGGATTGGCTCAG 0.698000 40 22 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55933851 55933851 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:55933851C>T uc003pcs.3 - 21 2316 c.2084G>A c.(2083-2085)gGa>gAa p.G695E COL21A1_uc010jzz.3_Missense_Mutation_p.G80E|COL21A1_uc011dxg.2_Missense_Mutation_p.G80E|COL21A1_uc011dxh.2_Missense_Mutation_p.G80E|COL21A1_uc003pcr.3_Missense_Mutation_p.E53K NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 695 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TACCTTTTTTCCTTGAATCCC 0.403000 21 5 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24185073 24185073 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:24185073C>T uc003ccz.4 - 8 1177 c.657G>A c.(655-657)tgG>tgA p.W219* THRB_uc010hfe.3_Nonsense_Mutation_p.W219*|THRB_uc003ccy.4_Nonsense_Mutation_p.W219*|THRB_uc003ccx.4_Nonsense_Mutation_p.W219* NM_001252634 NP_001239563 P10828 THB_HUMAN Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA. 219 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) TGATGAGCTCCCATTCCTCGT 0.562000 54 31 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321518 56321518 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:56321518C>T uc010ygf.2 - 4 1169 c.458G>A c.(457-459)gGa>gAa p.G153E NLRP11_uc002qlz.3_Missense_Mutation_p.G54E|NLRP11_uc002qmb.3_Missense_Mutation_p.G54E|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 153 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TGCTCTCTCTCCCATCAGGAA 0.413000 24 17 0 0 1 0 0 OR11G2 390439 broad.mit.edu 37 14 20666123 20666123 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20666123G>A uc010tlb.2 + 0 629 c.629G>A c.(628-630)aGg>aAg p.R210K NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA. 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) TGTGGATCTAGGATTATTGAC 0.443000 19 19 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41181619 41181619 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:41181619C>T uc003jmk.2 - 6 979 c.769G>A c.(769-771)Gat>Aat p.D257N C6_uc003jml.1_Missense_Mutation_p.D257N NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 257 MACPF. 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) GAAGTTAAATCCTTGTAGAAA 0.363000 27 11 0 0 1 0 0 OR6C4 341418 broad.mit.edu 37 12 55945174 55945174 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:55945174C>T uc010spp.2 + 0 164 c.164C>T c.(163-165)aCc>aTc p.T55I NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA. 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 CACCTCCAGACCCCCATGTAT 0.408000 188 95 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200572378 200572378 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:200572378G>A uc010ppk.1 - 9 2394 c.1955C>T c.(1954-1956)cCt>cTt p.P652L KIF14_uc010ppj.1_Missense_Mutation_p.P161L NM_014875 NP_055690 Q15058 KIF14_HUMAN Homo sapiens kinesin family member 14 (KIF14), mRNA. 652 microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TTCACGATAAGGAATAAAAAC 0.338000 52 25 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33477897 33477897 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:33477897C>T uc021vft.1 + 10 2176 c.2153C>T c.(2152-2154)cCc>cTc p.P718L LTBP1_uc002rou.3_Missense_Mutation_p.P392L|LTBP1_uc002rov.3_Missense_Mutation_p.P392L|LTBP1_uc010ymz.2_Missense_Mutation_p.P392L|LTBP1_uc010yna.2_Missense_Mutation_p.P392L NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 718 TB 2. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GAGAAATGTCCCCTTCCAGGC 0.542000 78 48 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70964887 70964887 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:70964887C>T uc003pfg.4 - 22 1736 c.1577G>A c.(1576-1578)gGa>gAa p.G526E COL9A1_uc003pfe.4_Missense_Mutation_p.G99E|COL9A1_uc003pff.4_Missense_Mutation_p.G283E NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 526 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 ACCAGGAATTCCTCTAGCACC 0.438000 54 54 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229527 7229527 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:7229527C>T uc003mxb.3 + 9 1687 c.1195C>T c.(1195-1197)Cag>Tag p.Q399* RREB1_uc021yky.1_Nonsense_Mutation_p.Q399*|RREB1_uc003mxc.3_Nonsense_Mutation_p.Q399*|RREB1_uc010jnx.3_Nonsense_Mutation_p.Q399*|RREB1_uc021ykz.1_Nonsense_Mutation_p.Q399*|RREB1_uc021yla.1_Intron NM_001003699 NP_001003699 Q92766 RREB1_HUMAN Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA. 399 Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) ACTCAAGTGTCAGCTACCTCA 0.617000 19 44 0 0 1 0 0 SNRPA1 6627 broad.mit.edu 37 15 101825959 101825959 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:101825959G>A uc002bww.3 - 6 664 c.587C>T c.(586-588)cCa>cTa p.P196L SNRPA1_uc002bwx.3_Non-coding_Transcript|SNRPA1_uc010bpc.3_Non-coding_Transcript NM_003090 NP_003081 P09661 RU2A_HUMAN Homo sapiens small nuclear ribonucleoprotein polypeptide A' (SNRPA1), mRNA. 196 U2 snRNP|catalytic step 2 spliceosome|nucleoplasm RNA binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCCTGGAGATGGCCCACCTTT 0.428000 50 29 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57378177 57378177 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:57378177C>T uc001cyo.2 + 9 1614 c.1482C>T c.(1480-1482)ttC>ttT p.F494F NM_000562 NP_000553 P07357 CO8A_HUMAN Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA. 494 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 TGATGGAATTCAATGCCTGCC 0.637000 41 25 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196753549 196753549 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:196753549C>T uc002utj.4 - 31 5304 c.5203G>A c.(5203-5205)Gat>Aat p.D1735N NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1735 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACTTCTAAATCCATTGGCTCA 0.348000 33 16 0 0 1 0 0 GZMK 3003 broad.mit.edu 37 5 54320183 54320183 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:54320183C>T uc003jpl.1 + 0 77 c.33C>T c.(31-33)ttC>ttT p.F11F NM_002104 NP_002095 P49863 GRAK_HUMAN Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA. 11 proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) CTCTGTTTTTCCTAATAGTTG 0.303000 23 12 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193166098 193166098 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:193166098C>T uc003ftd.3 - 17 2157 c.2049G>A c.(2047-2049)ctG>ctA p.L683L ATP13A4_uc003fte.1_Silent_p.L683L|ATP13A4_uc011bsr.1_Silent_p.L154L|ATP13A4_uc010hzi.3_Non-coding_Transcript NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 683 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCAGAAATATCAGGTCTGATT 0.408000 42 27 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54760009 54760009 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:54760009G>A uc010yer.1 - 3 636 c.525C>T c.(523-525)ccC>ccT p.P175P LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.P184P|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Silent_p.P184P|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 184 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGGGGTCACGGGACCCACAG 0.557000 21 12 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57730860 57730860 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:57730860C>T uc010bfw.3 + 2 856 c.663C>T c.(661-663)tcC>tcT p.S221S CGNL1_uc002aeg.3_Silent_p.S221S NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 221 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) TATGCAGCTCCGTGGTCATAG 0.537000 81 41 0 0 1 0 0 MFSD12 126321 broad.mit.edu 37 19 3557238 3557238 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:3557238G>A uc002lxw.3 - 0 334 c.164C>T c.(163-165)tCc>tTc p.S55F MFSD12_uc002lxx.3_Missense_Mutation_p.S55F|MFSD12_uc002lxy.3_Missense_Mutation_p.S55F|MFSD12_uc002lxz.3_Missense_Mutation_p.S55F NM_021731 NP_068377 Q6NUT3 CS028_HUMAN Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA. 55 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 CGCGCCGCGGGAGCTGTAGGC 0.716000 11 4 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189526224 189526224 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:189526224C>T uc003fry.2 + 3 577 c.488C>T c.(487-489)cCc>cTc p.P163L TP63_uc003frx.2_Missense_Mutation_p.P163L|TP63_uc003frz.2_Missense_Mutation_p.P163L|TP63_uc010hzc.1_Missense_Mutation_p.P163L|TP63_uc003fsa.2_Missense_Mutation_p.P69L|TP63_uc003fsb.2_Missense_Mutation_p.P69L|TP63_uc003fsc.2_Missense_Mutation_p.P69L|TP63_uc003fsd.2_Missense_Mutation_p.P69L|TP63_uc021xir.1_Missense_Mutation_p.P69L|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.P44L NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 163 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TCTCCATCACCCGCCATCCCC 0.632000 HNSCC(45;0.13) 39 24 0 0 1 0 0 RPE65 6121 broad.mit.edu 37 1 68906550 68906550 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:68906550G>A uc001dei.1 - 5 683 c.629C>T c.(628-630)cCa>cTa p.P210L NM_000329 NP_000320 Q16518 RPE65_HUMAN Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA. 210 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 TTGCAGTGGTGGGATCTTTAC 0.373000 36 25 0 0 1 0 0 TMEM225 338661 broad.mit.edu 37 11 123755341 123755341 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:123755341C>T uc001pzi.3 - 1 392 c.184G>A c.(184-186)Gac>Aac p.D62N NM_001013743 NP_001013765 Q6GV28 TM225_HUMAN Homo sapiens transmembrane protein 225 (TMEM225), mRNA. 62 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 ACTTTCAGGTCATCTGTTGGA 0.423000 63 24 0 0 1 0 0 C10orf81 79949 broad.mit.edu 37 10 115535566 115535566 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:115535566C>T uc001lat.2 + 9 1534 c.972C>T c.(970-972)ttC>ttT p.F324F C10orf81_uc009xyc.2_Silent_p.F242F|C10orf81_uc001lar.2_Silent_p.F344F|C10orf81_uc001las.2_Silent_p.F242F|C10orf81_uc001lau.2_Silent_p.F158F NM_182601 NP_872407 Q5SXH7 CJ081_HUMAN Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA. 338 central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2) 15 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) TGAACGTTTTCCTTTCTCCTC 0.433000 54 47 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53188041 53188041 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:53188041G>A uc001say.3 - 1 786 c.720C>T c.(718-720)tcC>tcT p.S240S NM_057088 NP_476429 P12035 K2C3_HUMAN Homo sapiens keratin 3 (KRT3), mRNA. 240 Linker 1.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity p.S240F(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 TGCCTGAGATGGAACTTGTGC 0.542000 59 37 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67039647 67039647 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:67039647G>A uc003xvv.3 + 0 370 c.144G>A c.(142-144)agG>agA p.R48R TRIM55_uc003xvu.3_Silent_p.R48R|TRIM55_uc003xvw.3_Silent_p.R48R|TRIM55_uc003xvx.3_Silent_p.R48R NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 48 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) ACCTGTGTAGGAAATGTGCCA 0.448000 55 220 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539327 55539327 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:55539327G>A uc003xsd.1 + 3 3033 c.2885G>A c.(2884-2886)gGa>gAa p.G962E RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 962 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACAAATTCTGGAAAAATAAGT 0.313000 27 54 0 0 1 0 0 FAM22F 54754 broad.mit.edu 37 9 97081303 97081303 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:97081303G>A uc004aup.1 - 6 1736 c.1715C>T c.(1714-1716)tCc>tTc p.S572F NM_017561 NP_060031 A1L443 FA22F_HUMAN Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA. 572 central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1) 19 Acute lymphoblastic leukemia(62;0.136) AGGGTCTTCGGACCTGGCCAT 0.657000 8 14 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682004 100682004 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:100682004C>T uc003uxp.1 + 2 7360 c.7307C>T c.(7306-7308)tCa>tTa p.S2436L MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2436 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGCCAGTTCATCTCCTACA 0.547000 415 201 0 0 1 0 0 GLRA2 2742 broad.mit.edu 37 X 14627259 14627259 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:14627259G>A uc010neq.3 + 6 1622 c.862G>A c.(862-864)Gca>Aca p.A288T GLRA2_uc004cwe.4_Missense_Mutation_p.A288T|GLRA2_uc011mio.2_Missense_Mutation_p.A199T|GLRA2_uc010nep.3_Missense_Mutation_p.A288T|GLRA2_uc011mip.2_Missense_Mutation_p.A266T NM_002063 NP_002054 P23416 GLRA2_HUMAN Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA. 288 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.A288T(2)|p.A288S(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TGCCAGGGTCGCACTGGGCAT 0.468000 60 10 0 0 1 0 0 CCNJL 79616 broad.mit.edu 37 5 159680725 159680725 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:159680725G>A uc003lyb.1 - 6 1220 c.968C>T c.(967-969)cCc>cTc p.P323L CCNJL_uc011dee.1_Missense_Mutation_p.P275L|CCNJL_uc003lyc.1_Non-coding_Transcript NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN Homo sapiens cyclin J-like (CCNJL), mRNA. 323 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CACTTGAGTGGGGGTGGGGGG 0.642000 37 20 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100420164 100420164 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:100420164C>T uc003uwn.1 - 3 1028 c.537G>A c.(535-537)caG>caA p.Q179Q EPHB4_uc003uwm.1_Silent_p.Q86Q|EPHB4_uc010lhj.1_Silent_p.Q179Q|EPHB4_uc011kkf.1_Silent_p.Q179Q|EPHB4_uc011kkg.1_Silent_p.Q179Q|EPHB4_uc011kkh.1_Silent_p.Q179Q NM_004444 NP_004435 P54760 EPHB4_HUMAN Homo sapiens EPH receptor B4 (EPHB4), mRNA. 179 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) CACCCTGGTCCTGGAAGGCCA 0.627000 14 10 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133475801 133475801 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:133475801G>A uc003epu.2 + 11 2546 c.818G>A c.(817-819)cGa>cAa p.R273Q TF_uc011blt.2_Missense_Mutation_p.R146Q|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.R273Q NM_001063 NP_001054 P02787 TRFE_HUMAN Homo sapiens transferrin (TF), mRNA. 273 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GTCGTGGCCCGAAGTATGGGC 0.592000 58 40 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059844 9059844 + Missense_Mutation SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9059844G>T uc002mkp.3 - 2 27806 c.27602C>A c.(27601-27603)cCa>cAa p.P9201Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9203 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 GCTCAAATTTGGGGGTGAACT 0.488000 67 46 2.67592e-24 2.72072e-24 1 1 0 MAPK12 6300 broad.mit.edu 37 22 50693725 50693725 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:50693725G>A uc003bkm.1 - 10 1076 c.925C>T c.(925-927)Ccc>Tcc p.P309S MAPK12_uc003bko.2_Missense_Mutation_p.P219S|MAPK12_uc003bkl.1_Missense_Mutation_p.P299S|MAPK12_uc003bkq.2_Missense_Mutation_p.P128S NM_002969 NP_002960 P53778 MK12_HUMAN Homo sapiens mitogen-activated protein kinase 12 (MAPK12), mRNA. 309 Protein kinase. DNA damage induced protein phosphorylation|Ras protein signal transduction|cell cycle arrest|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation mitochondrion|nucleoplasm ATP binding|MAP kinase activity|magnesium ion binding|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCGAAGTAGGGATGGGCCAGC 0.617000 90 33 0 0 1 0 0 TBCK 93627 broad.mit.edu 37 4 106967810 106967810 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:106967810A>G uc010ilv.2 - 25 2964 c.2599T>C c.(2599-2601)Tat>Cat p.Y867H TBCK_uc003hyb.2_Missense_Mutation_p.Y610H|TBCK_uc003hye.2_Missense_Mutation_p.Y828H|TBCK_uc003hyc.2_Missense_Mutation_p.Y804H|TBCK_uc003hyd.2_Missense_Mutation_p.Y695H|TBCK_uc003hyf.2_Missense_Mutation_p.Y867H NM_001163435 NP_001156908 Q8TEA7 TBCK_HUMAN Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA. 867 Rhodanese. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 ATTCTTGGATATTTCATCTTC 0.378000 18 11 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62038078 62038078 + Missense_Mutation SNP A C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:62038078A>C uc002yey.1 - 16 2715 c.2538T>G c.(2536-2538)tgT>tgG p.C846W KCNQ2_uc002yez.1_Missense_Mutation_p.C815W|KCNQ2_uc002yfa.1_Missense_Mutation_p.C828W|KCNQ2_uc002yfb.1_Missense_Mutation_p.C818W NM_172107 NP_742105 O43526 KCNQ2_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA. 846 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CGCACGGGGTACAGAGGTCGG 0.697000 7 3 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181702805 181702805 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:181702805G>A uc009wxt.3 + 20 3376 c.3181G>A c.(3181-3183)Gac>Aac p.D1061N CACNA1E_uc001gow.3_Missense_Mutation_p.D1061N|CACNA1E_uc009wxs.3_Missense_Mutation_p.D1042N|CACNA1E_uc001gox.1_Missense_Mutation_p.D287N NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1061 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGCCAACACGGACAAGGCCAC 0.642000 13 16 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118581982 118581982 + Missense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:118581982C>G uc001ehk.2 - 22 3320 c.3252G>C c.(3250-3252)aaG>aaC p.K1084N NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1084 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTTTCTCTTCCTTTTTCACAA 0.378000 32 18 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126336611 126336611 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:126336611G>A uc003ifj.4 + 4 6493 c.6493G>A c.(6493-6495)Gaa>Aaa p.E2165K FAT4_uc011cgp.2_Missense_Mutation_p.E463K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2165 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGAGATTAATGAAAACACACT 0.388000 50 32 0 0 1 0 0 ADORA2B 136 broad.mit.edu 37 17 15878535 15878535 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:15878535G>A uc002gpd.1 + 1 1210 c.878G>A c.(877-879)cGg>cAg p.R293Q NM_000676 NP_000667 P29275 AA2BR_HUMAN Homo sapiens adenosine A2b receptor (ADORA2B), mRNA. 293 JNK cascade|activation of MAPK activity|cellular defense response|excretion integral to plasma membrane breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2) 9 UCEC - Uterine corpus endometrioid carcinoma (92;0.0855) Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277) TATGCTTACCGGAACCGAGAC 0.473000 85 56 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18300864 18300864 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:18300864G>A uc002zng.4 - 25 4916 c.4563C>T c.(4561-4563)ccC>ccT p.P1521P MICAL3_uc011agl.2_Silent_p.P1437P|MICAL3_uc010gre.2_5'Flank NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 1521 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CATCAGCAAAGGGAATCTCCT 0.642000 20 4 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179437307 179437307 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179437307C>T uc021vsy.1 - 274 66073 c.65848G>A c.(65848-65850)Gat>Aat p.D21950N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D15645N|TTN_uc021vta.1_Missense_Mutation_p.D15578N|TTN_uc021vtb.1_Missense_Mutation_p.D15453N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 22877 Fibronectin type-III 59. 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) CCTGGTGTATCGAGAACTCTA 0.418000 32 23 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193061778 193061778 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:193061778G>A uc011bsq.2 - 8 881 c.881C>T c.(880-882)tCa>tTa p.S294L NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 294 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ACATGGCAATGAAAATTTTCC 0.463000 31 10 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682001 100682001 + Missense_Mutation SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:100682001G>T uc003uxp.1 + 2 7357 c.7304G>T c.(7303-7305)aGt>aTt p.S2435I MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2435 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACTGAAGCCAGTTCATCTCCT 0.547000 416 212 2.69335e-108 2.74791e-108 1 1 0 CDKL3 51265 broad.mit.edu 37 5 133657530 133657530 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:133657530G>A uc003kzf.4 - 4 723 c.604C>T c.(604-606)Cct>Tct p.P202S CDKL3_uc011cxm.1_Missense_Mutation_p.P9S|CDKL3_uc011cxn.1_Non-coding_Transcript|CDKL3_uc010jdw.2_5'UTR|CDKL3_uc011cxo.1_5'UTR|CDKL3_uc011cxp.1_5'UTR|CDKL3_uc011cxq.2_Missense_Mutation_p.P9S|CDKL3_uc003kzg.4_Missense_Mutation_p.P202S|CDKL3_uc011cxr.1_Missense_Mutation_p.P202S NM_001113575 NP_001107047 Q8IVW4 CDKL3_HUMAN Homo sapiens cyclin-dependent kinase-like 3 (CDKL3), transcript variant 1, mRNA. 202 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAACTACTAGGAAGATAGGGA 0.358000 19 19 0 0 1 0 0 AGTR2 186 broad.mit.edu 37 X 115304184 115304184 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:115304184C>T uc022cdd.1 + 0 651 c.651C>T c.(649-651)atC>atT p.I217I AGTR2_uc004eqh.4_Silent_p.I217I NM_000686 NP_000677 P50052 AGTR2_HUMAN Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA. 217 G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TGAAAAATATCCTTGGTTTTA 0.373000 9 23 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21109402 21109402 + Missense_Mutation SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:21109402C>A uc001vxv.1 - 0 449 c.449G>T c.(448-450)tGc>tTc p.C150F NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA. 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CCCCACCCAGCAGGCCAAGGC 0.597000 22 11 6.72482e-11 6.79059e-11 1 1 0 NTN4 59277 broad.mit.edu 37 12 96180938 96180938 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:96180938C>T uc001tei.3 - 1 813 c.364G>A c.(364-366)Gaa>Aaa p.E122K NTN4_uc009ztf.3_Missense_Mutation_p.E122K|NTN4_uc009ztg.3_Missense_Mutation_p.E85K NM_021229 NP_067052 Q9HB63 NET4_HUMAN Homo sapiens netrin 4 (NTN4), mRNA. 122 Laminin N-terminal. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 AATTCAGCTTCCAGGTCTAAC 0.537000 28 18 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209788748 209788748 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:209788748C>T uc001hhg.3 - 21 3777 c.3387G>A c.(3385-3387)atG>atA p.M1129I LAMB3_uc009xco.3_Missense_Mutation_p.M1129I|LAMB3_uc001hhh.3_Missense_Mutation_p.M1129I NM_001017402 NP_001121113 Q13751 LAMB3_HUMAN Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA. 1129 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GCTCCAACTCCATGTCTGAGG 0.587000 36 26 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306845 54306845 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:54306845C>T uc021smr.1 + 0 1745 c.1745C>T c.(1744-1746)tCg>tTg p.S582L UNC13C_uc021sms.1_Missense_Mutation_p.S582L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 582 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTGTCATCTTCGGACCGGGAG 0.448000 20 9 0 0 1 0 0 SKOR1 390598 broad.mit.edu 37 15 68124983 68124983 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:68124983C>T uc002aqy.1 + 7 2569 c.2569C>T c.(2569-2571)Cga>Tga p.R857* NM_001031807 NP_001026977 P84550 SKOR1_HUMAN Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA. 901 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus SMAD binding|nucleotide binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 ATTGGCTTATCGAGAAGAAAT 0.517000 OREG0023215 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 34 0 0 1 0 0 GJA1 2697 broad.mit.edu 37 6 121768796 121768796 + Missense_Mutation SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:121768796T>C uc003pyr.3 + 1 1053 c.803T>C c.(802-804)tTc>tCc p.F268S GJA1_uc011ebo.1_Missense_Mutation_p.F169S|GJA1_uc011ebp.1_Missense_Mutation_p.F56S|GJA1_uc021zel.1_Missense_Mutation_p.F268S NM_000165 NP_000156 P17302 CXA1_HUMAN Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA. 268 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TATGCTTATTTCAATGGCTGC 0.527000 15 10 0 0 1 0 0 RAB3C 115827 broad.mit.edu 37 5 57913682 57913682 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:57913682C>T uc003jrp.3 + 1 334 c.237C>T c.(235-237)atC>atT p.I79I NM_138453 NP_612462 Q96E17 RAB3C_HUMAN Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA. 79 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1) 21 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) AAAAGAGAATCAAGCTTCAGA 0.398000 8 9 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41752719 41752719 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:41752719C>T uc003azw.3 + 21 2804 c.2588C>T c.(2587-2589)tCc>tTc p.S863F NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA. 879 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CACATCCAGTCCGAGAAGCAC 0.622000 75 75 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39688490 39688490 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:39688490C>T uc003oot.2 - 1 259 c.164G>A c.(163-165)aGc>aAc p.S55N KIF6_uc011dua.1_Missense_Mutation_p.S55N|KIF6_uc010jxb.1_Missense_Mutation_p.S55N NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN Homo sapiens kinesin family member 6 (KIF6), mRNA. 55 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 AAATTTGTAGCTTTCTCGCTT 0.303000 69 10 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13915760 13915760 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:13915760C>T uc002mxh.1 + 2 699 c.510C>T c.(508-510)gcC>gcT p.A170A ZSWIM4_uc010xng.1_5'UTR NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA. 170 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) ACGTGGTGGCCCTGTCCCTGT 0.622000 OREG0025298 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 19 0 0 1 0 0 HCFC2 29915 broad.mit.edu 37 12 104458467 104458468 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:104458467_104458468GG>AA uc001tkj.4 + 0 232_233 c.129_130GG>AA c.(127-132)gagggc>gaAAgc p.G44S HCFC2_uc009zul.3_Non-coding_Transcript|GLT8D2_uc001tki.1_5'Flank NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN Homo sapiens host cell factor C2 (HCFC2), mRNA. 44 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 GGGGAAATGAGGGCATCGCGGA 0.708000 25 9 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89398201 89398201 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:89398201C>T uc010upo.1 + 11 2759 c.2385C>T c.(2383-2385)ccC>ccT p.P795P ACAN_uc010upp.1_Silent_p.P795P|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 795 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGCCATTCCCCTCAGAGGAGC 0.602000 14 5 0 0 1 0 0 PAX9 5083 broad.mit.edu 37 14 37145561 37145561 + Missense_Mutation SNP G T T rs116602527 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:37145561G>T uc001wty.4 + 4 1656 c.930G>T c.(928-930)ttG>ttT p.L310F PAX9_uc010amq.3_Non-coding_Transcript NM_006194 NP_006185 P55771 PAX9_HUMAN Homo sapiens paired box 9 (PAX9), mRNA. 310 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) GCACCTCATTGTCTCCCCACA 0.572000 103 64 7.31121e-38 7.45195e-38 1 1 0 KRT78 196374 broad.mit.edu 37 12 53238373 53238373 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:53238373C>T uc001sbc.1 - 4 955 c.891G>A c.(889-891)aaG>aaA p.K297K NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN Homo sapiens keratin 78 (KRT78), mRNA. 297 Coil 2.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CAGCCTCAGCCTTGCTGCTCC 0.612000 64 38 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50957612 50957612 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:50957612G>A uc002psf.2 + 17 2051 c.2000G>A c.(1999-2001)gGg>gAg p.G667E NM_004533 NP_004524 Q14324 MYPC2_HUMAN Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA. 667 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TACGATGGGGGGAAGCCAGTC 0.537000 45 18 0 0 1 0 0 ATP1A1 476 broad.mit.edu 37 1 116933447 116933447 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:116933447C>T uc001ege.3 + 9 1605 c.1266C>T c.(1264-1266)tcC>tcT p.S422S ATP1A1_uc010owv.1_Silent_p.S391S|ATP1A1_uc010oww.2_Silent_p.S422S|ATP1A1_uc010owx.2_Silent_p.S391S NM_000701 NP_001153706 P05023 AT1A1_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA. 422 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) TTGCTCTGTCCAGAATTGCAG 0.433000 79 43 0 0 1 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5203690 5203690 + RNA SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:5203690C>T uc009xhz.2 - 3 c.502G>A Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA. cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 TTTTGGCAATCCTATGCACCT 0.418000 61 24 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1257820 1257820 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:1257820C>T uc002cks.3 + 14 3362 c.3114C>T c.(3112-3114)ttC>ttT p.F1038F CACNA1H_uc002ckt.3_Silent_p.F1038F|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 1038 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CGGTCCACTTCGAGGAGGACT 0.632000 8 5 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:20414343A>G uc003zoe.2 - 4 760 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR NM_004529 NP_004520 P42568 AF9_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA. 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(38)|p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 14 3 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55143386 55143386 + Splice_Site SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:55143386G>A uc002qgj.3 + 6 699 c.359_splice c.e6-1 p.G120_splice LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Splice_Site_p.G120_splice|LILRB1_uc002qgk.3_Splice_Site_p.G120_splice|LILRB1_uc002qgm.3_Splice_Site_p.G120_splice|LILRB1_uc010erq.3_Splice_Site_p.G120_splice|LILRB1_uc010err.3_Splice_Site NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 120 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TCTCTCCTAGGAGCCTACATC 0.607000 HNSCC(37;0.09) 71 44 0 0 1 0 0 SLC39A6 25800 broad.mit.edu 37 18 33689595 33689595 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:33689595G>A uc010dmy.3 - 9 2519 c.2229C>T c.(2227-2229)tcC>tcT p.S743S NM_012319 NP_001092876 Q13433 S39A6_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 6 (SLC39A6), transcript variant 1, mRNA. 743 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 GTTCAAATATGGAAATAAGTA 0.358000 59 41 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 822892 822892 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:822892C>T uc002cjz.1 - 10 2293 c.2293G>A c.(2293-2295)Gag>Aag p.E765K NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN Homo sapiens mesothelin-like (MSLNL), mRNA. 414 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GCCCTCACCTCTGTCTGGTTC 0.682000 20 10 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25910126 25910126 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:25910126G>A uc010crg.3 + 4 1009 c.564G>A c.(562-564)tcG>tcA p.S188S KSR1_uc002gzj.1_Non-coding_Transcript NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA. 323 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) ACGTCTCCTCGATGAGGTGAG 0.522000 4 3 0 0 1 0 0 MBL2 4153 broad.mit.edu 37 10 54528095 54528095 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:54528095G>A uc001jjt.3 - 3 614 c.549C>T c.(547-549)ttC>ttT p.F183F NM_000242 NP_000233 P11226 MBL2_HUMAN Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA. 183 C-type lectin. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 TGATGCCCAGGAAGGCTTCCT 0.512000 137 70 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76501369 76501369 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:76501369C>T uc002fex.1 + 8 1752 c.1613C>T c.(1612-1614)tCc>tTc p.S538F CNTNAP4_uc002feu.1_Missense_Mutation_p.S534F|CNTNAP4_uc002fev.1_Missense_Mutation_p.S399F|CNTNAP4_uc010chb.1_Missense_Mutation_p.S462F|CNTNAP4_uc002few.2_Missense_Mutation_p.S510F NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 535 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding p.S534Y(1)|p.S510Y(1)|p.S462Y(1) 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 CAGCAGGGGTCCCTTGGGAAC 0.453000 9 9 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36707615 36707615 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:36707615C>T uc002hqd.3 - 14 2963 c.2738G>A c.(2737-2739)cGa>cAa p.R913Q SRCIN1_uc002hqf.1_Missense_Mutation_p.R785Q|SRCIN1_uc002hqe.2_Missense_Mutation_p.R767Q NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA. 785 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 CTCCCAGTCTCGCTCTGCAGC 0.622000 12 11 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45567247 45567247 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:45567247C>T uc010dnv.3 - 2 734 c.298G>A c.(298-300)Gac>Aac p.D100N ZBTB7C_uc002ldb.3_Missense_Mutation_p.D78N|ZBTB7C_uc010dnu.3_Missense_Mutation_p.D87N|ZBTB7C_uc010dnw.3_Missense_Mutation_p.D78N|ZBTB7C_uc010dnx.1_Missense_Mutation_p.D78N|ZBTB7C_uc010dny.1_Missense_Mutation_p.D78N|ZBTB7C_uc010dnz.1_Missense_Mutation_p.D100N|ZBTB7C_uc010doi.1_Missense_Mutation_p.D78N|ZBTB7C_uc010doj.1_Missense_Mutation_p.D87N|ZBTB7C_uc010dok.1_Missense_Mutation_p.D127N|ZBTB7C_uc010dol.1_Missense_Mutation_p.D87N|ZBTB7C_uc010doa.1_Missense_Mutation_p.D100N|ZBTB7C_uc010dob.1_Missense_Mutation_p.D78N|ZBTB7C_uc010doc.1_Missense_Mutation_p.D87N|ZBTB7C_uc010dod.1_Missense_Mutation_p.D100N|ZBTB7C_uc010doe.1_Missense_Mutation_p.D78N|ZBTB7C_uc010dof.1_Missense_Mutation_p.D78N|ZBTB7C_uc010dog.1_Missense_Mutation_p.D78N|ZBTB7C_uc010doh.1_Missense_Mutation_p.D87N|ZBTB7C_uc010dom.1_Missense_Mutation_p.D87N|ZBTB7C_uc010don.1_Missense_Mutation_p.D86N|ZBTB7C_uc010dop.1_Missense_Mutation_p.D78N|ZBTB7C_uc010doq.1_Missense_Mutation_p.D87N|ZBTB7C_uc010dor.1_Missense_Mutation_p.D100N|ZBTB7C_uc010dos.1_Missense_Mutation_p.D78N|ZBTB7C_uc010dot.1_Missense_Mutation_p.D78N|ZBTB7C_uc010doo.1_Missense_Mutation_p.D78N|ZBTB7C_uc010dou.1_Missense_Mutation_p.D87N NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA. 78 BTB. intracellular nucleic acid binding|zinc ion binding p.T100T(1)|p.D78N(1) endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 TGGACAAAGTCGATCTCATAG 0.587000 44 16 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62599136 62599136 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:62599136G>A uc010ihh.3 + 4 1232 c.1059G>A c.(1057-1059)gtG>gtA p.V353V LPHN3_uc003hcq.4_Silent_p.V353V|LPHN3_uc010ihg.1_Silent_p.V421V|LPHN3_uc003hcs.1_Silent_p.V182V NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 353 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 ATAGTTTGGTGGATGTACCCT 0.393000 19 17 0 0 1 0 0 FARS2 10667 broad.mit.edu 37 6 5771568 5771568 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:5771568T>A uc010jnv.1 + 6 1598 c.1262T>A c.(1261-1263)aTg>aAg p.M421K FARS2_uc003mwr.2_Missense_Mutation_p.M421K NM_006567 NP_006558 O95363 SYFM_HUMAN Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA. 421 FDX-ACB. phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) TACCGCCACATGGAACGGACT 0.587000 63 99 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50591503 50591503 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:50591503C>T uc003bjj.3 + 21 3005 c.2922C>T c.(2920-2922)tcC>tcT p.S974S MOV10L1_uc003bjk.4_Silent_p.S974S|MOV10L1_uc011arp.2_Silent_p.S954S|MOV10L1_uc003bjl.3_Silent_p.S101S|MOV10L1_uc003bjm.1_Silent_p.S17S NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 974 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding 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) ACTACCGGTCCCACGAGGCCC 0.602000 143 34 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105404212 105404212 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:105404212G>A uc003dwc.3 - 13 2475 c.2153C>T c.(2152-2154)tCc>tTc p.S718F CBLB_uc011bhi.2_Missense_Mutation_p.S740F|CBLB_uc003dwd.2_Missense_Mutation_p.S718F|CBLB_uc003dwe.2_Missense_Mutation_p.S718F NM_170662 NP_733762 Q13191 CBLB_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA. 718 Pro-rich. NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 TGAATTCAGGGAAACAGGGTG 0.403000 Mis S AML 57 27 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141214153 141214153 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:141214153C>T uc002tvj.1 - 61 10806 c.9834G>A c.(9832-9834)atG>atA p.M3278I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3278 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.M3278I(2) 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) CATTATTTATCATGCAGAGAT 0.373000 TSP Lung(27;0.18) 48 34 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784717 9784717 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:9784717A>G uc003gmb.4 + 0 1460 c.1064A>G c.(1063-1065)aAc>aGc p.N355S NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 355 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TCCTCACTCAACCCCGTCATC 0.627000 51 28 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 117050993 117050993 + Silent SNP T G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:117050993T>G uc011lxl.2 + 42 4056 c.4056T>G c.(4054-4056)ggT>ggG p.G1352G COL27A1_uc004bii.3_Non-coding_Transcript NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 1352 Collagen-like 12.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GCCCTGTGGGTGATCGAGGAG 0.622000 11 8 0 0 1 0 0 ZPBP 11055 broad.mit.edu 37 7 50070776 50070776 + Silent SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:50070776T>A uc003tou.3 - 4 688 c.618A>T c.(616-618)tcA>tcT p.S206S ZPBP_uc010kyw.3_Silent_p.S205S NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA. 206 binding of sperm to zona pellucida extracellular region p.L205I(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) AAATTTCACATGAAAGGTCAA 0.353000 35 32 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135012305 135012305 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:135012305G>A uc001llz.1 + 13 2294 c.2293G>A c.(2293-2295)Gcc>Acc p.A765T KNDC1_uc001lma.1_Missense_Mutation_p.A700T|KNDC1_uc001lmb.1_Missense_Mutation_p.A177T NM_152643 NP_689856 Q76NI1 VKIND_HUMAN Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA. 765 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TCCACCCCAGGCCCCAGCAAA 0.736000 7 3 0 0 1 0 0 PROX2 283571 broad.mit.edu 37 14 75329637 75329637 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:75329637C>T uc021rwo.1 - 0 901 c.901G>A c.(901-903)Gga>Aga p.G301R PROX2_uc001xqp.2_Missense_Mutation_p.G301R|PROX2_uc001xqq.2_Intron NM_001080408 NP_001229936 Q3B8N5 PROX2_HUMAN Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA. 301 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GATAAATTTCCTACTGGGACC 0.552000 73 22 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68197143 68197143 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:68197143C>T uc001ont.3 + 16 3813 c.3738C>T c.(3736-3738)ctC>ctT p.L1246L LRP5_uc009ysg.3_Silent_p.L656L NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 1246 EGF-like 4. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ACCTCGTGCTCCTGCAGAACC 0.602000 65 40 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7459299 7459299 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:7459299C>T uc001qsx.1 + 1 372 c.372C>T c.(370-372)atC>atT p.I124I NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA. 124 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 TGCCCAGAATCCCTGAGTGGT 0.512000 10 6 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179078330 179078330 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:179078330G>A uc001gmj.4 - 11 2359 c.2072C>T c.(2071-2073)tCt>tTt p.S691F ABL2_uc010pnf.2_Intron|ABL2_uc010png.2_Intron|ABL2_uc010pnh.2_Missense_Mutation_p.S670F|ABL2_uc001gmg.4_Intron|ABL2_uc001gmi.4_Missense_Mutation_p.S676F|ABL2_uc010pne.2_Intron NM_007314 NP_009298 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA. 691 axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) AGAAGCAACAGATGAGAAGTT 0.517000 T ETV6 AML 92 68 0 0 1 0 0 LOC441666 441666 broad.mit.edu 37 10 42831646 42831646 + RNA SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:42831646G>A uc010qey.2 - 2 c.2329C>T Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA. ACATTTACAGGGTTTCTCTTC 0.363000 10 3 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53694281 53694281 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:53694281C>T uc003dgv.4 + 4 908 c.745C>T c.(745-747)Cga>Tga p.R249* CACNA1D_uc003dgu.4_Nonsense_Mutation_p.R249*|CACNA1D_uc003dgy.4_Nonsense_Mutation_p.R249* NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 249 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GCGACCACTTCGACTAGTGTC 0.488000 29 11 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55739516 55739516 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:55739516C>T uc003pcq.3 - 0 860 c.148G>A c.(148-150)Gaa>Aaa p.E50K BMP5_uc011dxf.2_Missense_Mutation_p.E50K NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 50 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.R49P(1) 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) CTTTGTATTTCCCGTCTTTCG 0.453000 71 94 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171687691 171687691 + Missense_Mutation SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:171687691G>C uc002ugi.3 + 4 958 c.536G>C c.(535-537)gGg>gCg p.G179A GAD1_uc002ugh.3_Missense_Mutation_p.G179A NM_000817 NP_000808 Q99259 DCE1_HUMAN Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA. 179 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) TTGAAGTATGGGGTTCGCACA 0.537000 93 26 0 0 1 0 0 GPR18 2841 broad.mit.edu 37 13 99907947 99907947 + Nonsense_Mutation SNP A T T rs147490848 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:99907947A>T uc001voe.4 - 2 839 c.180T>A c.(178-180)taT>taA p.Y60* UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR18_uc010afv.3_Nonsense_Mutation_p.Y60*|GPR18_uc021rlz.1_Nonsense_Mutation_p.Y60* NM_005292 NP_005283 Q14330 GPR18_HUMAN Homo sapiens G protein-coupled receptor 18 (GPR18), transcript variant 1, mRNA. 60 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) CATTCATCATATAGATGGTTA 0.343000 51 16 0 0 1 0 0 GPR85 54329 broad.mit.edu 37 7 112724282 112724282 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:112724282G>A uc010ljv.2 - 1 1012 c.495C>T c.(493-495)ttC>ttT p.F165F GPR85_uc003vgp.1_Silent_p.F165F|GPR85_uc003vgq.2_Silent_p.F165F|GPR85_uc010ljw.1_Silent_p.F165F|GPR85_uc022akd.1_Silent_p.F165F NM_001146266 NP_061843 P60893 GPR85_HUMAN Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA. 165 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 CCTCCCTAATGAATGAGTAAG 0.507000 117 26 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63476962 63476962 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:63476962G>A uc002lkb.3 + 2 659 c.233G>A c.(232-234)gGa>gAa p.G78E CDH7_uc002ljz.3_Missense_Mutation_p.G78E|CDH7_uc002lka.3_Missense_Mutation_p.G78E NM_004361 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA. 78 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GTTGATAAAGGAGATGGTTCC 0.373000 79 27 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24452754 24452754 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:24452754G>A uc002zzi.1 + 9 1320 c.1193G>A c.(1192-1194)cGa>cAa p.R398Q CABIN1_uc021wnc.1_Missense_Mutation_p.R348Q|CABIN1_uc002zzj.1_Missense_Mutation_p.R348Q|CABIN1_uc002zzl.2_Missense_Mutation_p.R398Q|CABIN1_uc010guk.1_Missense_Mutation_p.R353Q|CABIN1_uc002zzk.2_Missense_Mutation_p.R353Q NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA. 398 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GCCCGTGTCCGAAACACCAAG 0.448000 136 40 0 0 1 0 0 RAB27B 5874 broad.mit.edu 37 18 52546620 52546620 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:52546620G>A uc002lfr.3 + 2 417 c.174G>A c.(172-174)ccG>ccA p.P58P NM_004163 NP_004154 O00194 RB27B_HUMAN Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA. 58 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity p.G57R(1) large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) CACAAGGACCGAATGGATCTT 0.403000 100 98 0 0 1 0 0 MAGED1 9500 broad.mit.edu 37 X 51644837 51644837 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:51644837C>T uc004dpn.3 + 12 2506 c.2316C>T c.(2314-2316)acC>acT p.T772T MAGED1_uc004dpm.3_Silent_p.T716T|MAGED1_uc004dpo.3_Silent_p.T716T NM_001005333 NP_001005333 Q9Y5V3 MAGD1_HUMAN Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA. 716 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) AGCTGCTGACCTGGGATGAGG 0.557000 Multiple Myeloma(10;0.10) 8 21 0 0 1 0 0 TNFSF8 944 broad.mit.edu 37 9 117666537 117666537 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:117666537G>A uc004bji.2 - 3 671 c.379C>T c.(379-381)Cag>Tag p.Q127* TNFSF8_uc022bmi.1_Nonsense_Mutation_p.Q127* NM_001244 NP_001235 P32971 TNFL8_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA. 127 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1) 12 TTCCCATCCTGATATCTGACT 0.383000 72 39 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132466781 132466781 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:132466781C>T uc001ujn.3 + 4 1839 c.1687C>T c.(1687-1689)Cca>Tca p.P563S EP400_uc021rgq.1_Missense_Mutation_p.P562S|EP400_uc001ujm.3_Missense_Mutation_p.P563S|EP400_uc001ujj.2_Missense_Mutation_p.P526S|EP400_uc001ujk.3_Missense_Mutation_p.P599S NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 599 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GAGGCTGCCCCCAGCCGGTGT 0.662000 28 21 0 0 1 0 0 PRRG2 5639 broad.mit.edu 37 19 50086495 50086495 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:50086495C>T uc002pon.3 + 1 184 c.19C>T c.(19-21)Ctg>Ttg p.L7L NOSIP_uc002pok.3_5'Flank|NOSIP_uc002pol.3_5'Flank|NOSIP_uc010yay.1_5'Flank|PRRG2_uc010yaz.1_5'UTR NM_000951 NP_000942 O14669 TMG2_HUMAN Homo sapiens proline rich Gla (G-carboxyglutamic acid) 2 (PRRG2), mRNA. 7 extracellular region|integral to plasma membrane calcium ion binding lung(1)|skin(1)|soft_tissue(1) 3 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121) CCACCCCTCTCTGCTGCTGCT 0.522000 16 15 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216496898 216496898 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:216496898G>A uc001hku.1 - 7 1855 c.1468C>T c.(1468-1470)Cat>Tat p.H490Y USH2A_uc001hkv.3_Missense_Mutation_p.H490Y NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 490 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TACTGCCCATGAAAATGAAAC 0.393000 HNSCC(13;0.011) 86 44 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179403374 179403374 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179403374C>T uc021vsy.1 - 302 91703 c.91478G>A c.(91477-91479)gGa>gAa p.G30493E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G24188E|TTN_uc021vta.1_Missense_Mutation_p.G24121E|TTN_uc021vtb.1_Missense_Mutation_p.G23996E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 31420 Fibronectin type-III 122. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G23996E(1)|p.G24121E(1)|p.G30491E(1)|p.G24188E(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) CAGCAAACCTCCTATTGTGAA 0.418000 102 73 0 0 1 0 0 LRRC8D 55144 broad.mit.edu 37 1 90400284 90400284 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:90400284C>T uc021opq.1 + 0 1657 c.1657C>T c.(1657-1659)Cct>Tct p.P553S LRRC8D_uc001dnm.3_Missense_Mutation_p.P553S|LRRC8D_uc001dnn.3_Missense_Mutation_p.P553S NM_018103 NP_060573 Q7L1W4 LRC8D_HUMAN Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA. 553 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) GGCTGAAATTCCTGCCTGGGT 0.433000 55 25 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324262 152324262 + Silent SNP T C C rs144862791 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:152324262T>C uc001ezw.4 - 2 6073 c.6000A>G c.(5998-6000)caA>caG p.Q2000Q AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 2000 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TATCTGCTGTTTGTCCATGAG 0.512000 346 6 0 0 1 0 0 ELAC2 60528 broad.mit.edu 37 17 12919117 12919117 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:12919117G>A uc002gnz.4 - 3 517 c.400C>T c.(400-402)Cca>Tca p.P134S ELAC2_uc010vvo.2_5'Flank|ELAC2_uc010vvp.2_Missense_Mutation_p.P115S|ELAC2_uc010vvq.2_Missense_Mutation_p.P134S|ELAC2_uc010vvr.2_Missense_Mutation_p.P134S NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA. 134 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 ACACACTTTGGAAGCCCGGTT 0.393000 69 36 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141735999 141735999 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:141735999G>A uc003vwy.3 + 16 2044 c.1990G>A c.(1990-1992)Gac>Aac p.D664N NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 664 Maltase. 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) CTTTGCTTTGGACACCCCTGA 0.512000 25 13 0 0 1 0 0 ADCYAP1 116 broad.mit.edu 37 18 905487 905487 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:905487C>T uc010dkg.3 + 1 219 c.100C>T c.(100-102)Ccc>Tcc p.P34S ADCYAP1_uc010dkh.3_Missense_Mutation_p.P34S NM_001099733 NP_001108 P18509 PACA_HUMAN Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) (ADCYAP1), transcript variant 1, mRNA. 34 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 ACTCCGGTTCCCCGGGATCAG 0.632000 33 9 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50845224 50845224 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:50845224C>T uc003blb.2 + 4 756 c.334C>T c.(334-336)Cat>Tat p.H112Y PPP6R2_uc003blc.3_Missense_Mutation_p.H112Y|PPP6R2_uc003bky.2_Missense_Mutation_p.H112Y|PPP6R2_uc003bla.2_Missense_Mutation_p.H112Y|PPP6R2_uc003bkz.2_Missense_Mutation_p.H112Y NM_001242898 NP_001229827 O75170 PP6R2_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA. 112 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CTTCTTGGACCATGAGCCGCC 0.532000 293 88 0 0 1 0 0 OR2T34 127068 broad.mit.edu 37 1 248737528 248737528 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:248737528C>T uc001iep.1 - 0 531 c.531G>A c.(529-531)agG>agA p.R177R NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA. 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 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) TCAGGATTTTCCTAGACTGGC 0.527000 36 24 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274237 103274237 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:103274237G>A uc002tca.3 + 1 646 c.504G>A c.(502-504)acG>acA p.T168T NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 168 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 ACATTGGCACGATTTTCTGGT 0.488000 178 97 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45152195 45152195 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:45152195G>A uc003com.3 - 3 929 c.794C>T c.(793-795)tCc>tTc p.S265F CDCP1_uc003con.3_Missense_Mutation_p.S265F NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA. 265 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) GTTGAGGAAGGAGACGCTGGC 0.572000 66 33 0 0 1 0 0 POLR1E 64425 broad.mit.edu 37 9 37498194 37498194 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:37498194C>T uc003zzz.1 + 7 1333 c.1045C>T c.(1045-1047)Cga>Tga p.R349* POLR1E_uc003zzy.1_Nonsense_Mutation_p.R287*|POLR1E_uc011lqk.1_Nonsense_Mutation_p.R216* NM_022490 NP_071935 Q9GZS1 RPA49_HUMAN Homo sapiens polymerase (RNA) I polypeptide E, 53kDa (POLR1E), mRNA. 349 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 12 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) CATCAAATTTCGAGCTCATAG 0.398000 34 26 0 0 1 0 0 REG1B 5968 broad.mit.edu 37 2 79313631 79313631 + Splice_Site SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:79313631C>T uc002sny.2 - 4 296 c.184_splice c.e4-1 p.L62_splice REG1B_uc010ffv.1_Intron|REG1B_uc010ffw.3_3'UTR NM_006507 NP_006498 P48304 REG1B_HUMAN Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA. 62 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 GGCAATAGAGCTGTTGGAGAA 0.498000 52 36 0 0 1 0 0 ORAOV1 220064 broad.mit.edu 37 11 69487993 69487993 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:69487993G>A uc001opc.3 - 1 305 c.147C>T c.(145-147)atC>atT p.I49I ORAOV1_uc010rqi.1_Silent_p.I49I|ORAOV1_uc009ysm.3_Non-coding_Transcript|ORAOV1_uc001opd.3_Intron|ORAOV1_uc001ope.1_Silent_p.I49I NM_153451 NP_703152 Q8WV07 ORAV1_HUMAN Homo sapiens oral cancer overexpressed 1 (ORAOV1), mRNA. 49 NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) CCTCAGACCCGATTTTGGCTC 0.463000 51 31 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47611580 47611580 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:47611580C>T uc001cqv.1 + 9 1316 c.1265C>T c.(1264-1266)cCa>cTa p.P422L CYP4A22_uc009vyo.3_Missense_Mutation_p.P422L|CYP4A22_uc009vyp.3_Missense_Mutation_p.P324L NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA. 422 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CACCACAACCCAAAAGTGTGG 0.517000 173 116 0 0 1 0 0 SAA1 6288 broad.mit.edu 37 11 18288502 18288502 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:18288502C>T uc021qem.1 + 2 169 c.68C>T c.(67-69)tCg>tTg p.S23L SAA1_uc021qen.1_Missense_Mutation_p.S23L|SAA1_uc021qeo.1_Missense_Mutation_p.S23L NM_001178006 NP_954630 P02735 SAA_HUMAN Homo sapiens serum amyloid A1 (SAA1), transcript variant 3, mRNA. 23 acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion high-density lipoprotein particle G-protein-coupled receptor binding endometrium(1)|large_intestine(3)|lung(2)|stomach(3) 9 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) AGCTTCTTTTCGTTCCTTGGC 0.498000 26 15 0 0 1 0 0 HCAR3 8843 broad.mit.edu 37 12 123200193 123200193 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:123200193G>A uc001ucy.4 - 0 1247 c.1092C>T c.(1090-1092)aaC>aaT p.N364N HCAR1_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA. 364 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) TCTTGGAATGGTTATTTGAGG 0.527000 92 40 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269665 150269665 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150269665G>A uc003whl.3 + 2 589 c.507G>A c.(505-507)agG>agA p.R169R GIMAP4_uc011kuu.2_Silent_p.R30R|GIMAP4_uc011kuv.2_Silent_p.R183R NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 169 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACTACTTAAGGGAAGCTCCAG 0.468000 51 71 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926718 157926718 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:157926718G>A uc003wno.3 - 8 1328 c.1207C>T c.(1207-1209)Ctg>Ttg p.L403L PTPRN2_uc003wnp.3_Silent_p.L386L|PTPRN2_uc003wnq.3_Silent_p.L403L|PTPRN2_uc003wnr.3_Silent_p.L365L|PTPRN2_uc011kwa.2_Silent_p.L426L NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 403 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TGGTCCTGCAGGAGGCCCCCG 0.587000 33 48 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130877615 130877615 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:130877615G>A uc010fmh.2 - 2 874 c.474C>T c.(472-474)atC>atT p.I158I NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 158 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TGAGCATGACGATGAGATCCT 0.577000 22 48 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166904703 166904703 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:166904703C>T uc001gdx.2 - 5 771 c.715G>A c.(715-717)Ggg>Agg p.G239R NM_199351 NP_955383 Q71H61 ILDR2_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA. 239 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GCTGCTTTCCCTGCTTCATAC 0.582000 19 6 0 0 1 0 0 DDX4 54514 broad.mit.edu 37 5 55109502 55109502 + Splice_Site SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:55109502G>A uc003jqg.4 + 19 1715 c.1616_splice c.e19-1 p.G539_splice DDX4_uc010ivz.3_Splice_Site_p.G519_splice|DDX4_uc003jqh.4_Splice_Site_p.G505_splice|DDX4_uc003jqj.3_Splice_Site_p.G390_splice NM_024415 NP_077726 Q9NQI0 DDX4_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA. 539 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) GTCTTGTAGGGGATGAAAGAA 0.308000 69 31 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142609794 142609794 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142609794C>T uc003wby.1 - 12 1906 c.1642G>A c.(1642-1644)Gac>Aac p.D548N NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA. 548 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity p.D548N(2) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) AAGTCCACGTCGTAGTTGGCA 0.507000 132 32 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216692542 216692542 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:216692542C>T uc001hkw.2 - 5 1257 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K ESRRG_uc009xdp.1_Missense_Mutation_p.E339K|ESRRG_uc001hky.1_Missense_Mutation_p.E339K|ESRRG_uc001hkz.2_Missense_Mutation_p.E300K|ESRRG_uc010puc.2_Missense_Mutation_p.E339K|ESRRG_uc001hla.2_Missense_Mutation_p.E339K|ESRRG_uc001hlb.2_Missense_Mutation_p.E339K|ESRRG_uc010pud.2_Missense_Mutation_p.E177K|ESRRG_uc021pja.1_Missense_Mutation_p.E111K|ESRRG_uc001hlc.1_Missense_Mutation_p.E339K|ESRRG_uc001hld.1_Missense_Mutation_p.E339K|ESRRG_uc001hkx.2_Missense_Mutation_p.E374K|ESRRG_uc009xdo.2_Missense_Mutation_p.E339K|ESRRG_uc001hle.2_Missense_Mutation_p.E339K|ESRRG_uc021piz.1_Missense_Mutation_p.E339K NM_001438 NP_001230435 P62508 ERR3_HUMAN Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA. 362 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TCTTCTTTTTCCAGCTTCATG 0.358000 24 11 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226273727 226273727 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:226273727G>A uc002voe.2 + 1 306 c.131G>A c.(130-132)cGa>cAa p.R44Q NYAP2_uc010fxa.1_Missense_Mutation_p.R39Q NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 44 GATATTGCTCGAGAGAATGAT 0.408000 33 13 0 0 1 0 0 C8orf4 56892 broad.mit.edu 37 8 40011101 40011101 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:40011101G>A uc003xnq.2 + 0 115 c.50G>A c.(49-51)cGa>cAa p.R17Q NM_020130 NP_064515 Q9NR00 CH004_HUMAN Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA. 17 apoptosis breast(1)|large_intestine(1)|ovary(1) 3 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) ACGTCGCTACGAGTCAGCCCA 0.517000 19 29 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248023992 248023992 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:248023992G>A uc001ido.3 + 1 542 c.494G>A c.(493-495)gGg>gAg p.G165E NM_015431 NP_056246 Q8NG06 TRI58_HUMAN Homo sapiens tripartite motif containing 58 (TRIM58), mRNA. 165 intracellular zinc ion binding p.V164L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCCAACGTGGGGAAAAAGACT 0.473000 41 16 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71510503 71510503 + Silent SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:71510503A>G uc011caw.1 + 8 3641 c.3360A>G c.(3358-3360)ccA>ccG p.P1120P NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 1120 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AACACAGTCCATTTGAATTCC 0.423000 48 27 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33959884 33959884 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:33959884G>A uc001bxj.4 + 7 2107 c.1940G>A c.(1939-1941)gGa>gAa p.G647E ZSCAN20_uc009vui.3_Missense_Mutation_p.G646E NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 647 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGTTTGCCTGGAGCCTTATCA 0.428000 30 21 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128624170 128624170 + Splice_Site SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:128624170C>T uc011muk.1 - 15 1929 c.1816_splice c.e15-1 p.D606_splice SMARCA1_uc004eun.4_Splice_Site_p.D606_splice|SMARCA1_uc004eup.4_Splice_Site_p.D594_splice|SMARCA1_uc011mul.1_Splice_Site_p.D594_splice NM_003069 NP_003060 P28370 SMCA1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA. 606 Helicase C-terminal. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 GTGCTCGATCCTAGTAGAAAG 0.333000 10 14 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79402010 79402010 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:79402010G>A uc001diq.4 - 6 1003 c.847C>T c.(847-849)Cca>Tca p.P283S NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 283 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.F282I(2) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTTCTCTTTGGAAATATATTT 0.274000 84 39 0 0 1 0 0 FAM117B 150864 broad.mit.edu 37 2 203630464 203630464 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:203630464C>T uc010zhx.2 + 7 1757 c.1747C>T c.(1747-1749)Cca>Tca p.P583S NM_173511 NP_775782 Q6P1L5 F117B_HUMAN Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA. 583 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 ACCACCAGAACCAATTGAGGA 0.512000 19 12 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175292569 175292569 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:175292569G>A uc001gkp.1 - 20 4082 c.4001C>T c.(4000-4002)cCc>cTc p.P1334L TNR_uc009wwu.1_Missense_Mutation_p.P1334L NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 1334 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TTCCACAAAGGGGATGGAGAA 0.552000 58 35 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184942 130184942 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:130184942C>T uc009zyl.1 - 1 709 c.381G>A c.(379-381)tgG>tgA p.W127* NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 127 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTTTTAGTTTCCAGTTAAGAG 0.522000 21 5 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 182129 182129 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:182129G>A uc003jak.2 + 17 3557 c.3507G>A c.(3505-3507)atG>atA p.M1169I NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 1169 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGTCACAAATGAGAGGGTCCA 0.597000 51 14 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44223386 44223386 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:44223386C>T uc002oxh.3 + 1 823 c.676C>T c.(676-678)Ccc>Tcc p.P226S IRGC_uc021uvh.1_Missense_Mutation_p.P226S NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA. 226 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CTACGACTTTCCCACGCTGGT 0.687000 14 5 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211645 78211645 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:78211645G>A uc010bky.2 - 10 886 c.122C>T c.(121-123)tCc>tTc p.S41F Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA. GGGCGCCAGGGATAGGGGCTC 0.522000 25 19 0 0 1 0 0 PRSS54 221191 broad.mit.edu 37 16 58325019 58325019 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:58325019G>A uc002enf.3 - 3 502 c.107C>T c.(106-108)tCc>tTc p.S36F PRSS54_uc002eng.3_Missense_Mutation_p.S36F|PRSS54_uc010vie.2_Intron NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN Homo sapiens protease, serine, 54 (PRSS54), mRNA. 36 proteolysis extracellular region serine-type endopeptidase activity p.S36S(1) 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 GTAGAAAACGGAAGCTTTCTG 0.622000 28 9 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22848105 22848105 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:22848105C>T uc001bft.2 + 15 3676 c.3165C>T c.(3163-3165)ttC>ttT p.F1055F ZBTB40_uc001bfu.2_Silent_p.F1055F|ZBTB40_uc009vqi.1_Silent_p.F943F NM_001083621 NP_055685 Q9NUA8 ZBT40_HUMAN Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA. 1055 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) ACAAAACCTTCCCCAACACCA 0.542000 91 45 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151784366 151784366 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:151784366G>A uc003luv.2 - 0 475 c.309C>T c.(307-309)gtC>gtT p.V103V NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA. 103 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) ACATCTCATAGACCTCCAGGG 0.582000 63 35 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18049228 18049228 + Nonsense_Mutation SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:18049228G>T uc021trm.1 + 28 6535 c.6316G>T c.(6316-6318)Gag>Tag p.E2106* MYO15A_uc021trl.1_Nonsense_Mutation_p.E2104* NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 2106 MyTH4 1.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TGGTGCCCGGGAGAACATCTT 0.602000 23 19 4.26978e-12 4.31364e-12 1 1 0 SP7 121340 broad.mit.edu 37 12 53722955 53722955 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:53722955C>T uc001sct.3 - 1 378 c.271G>A c.(271-273)Gat>Aat p.D91N SP7_uc001scv.3_Missense_Mutation_p.D91N|SP7_uc001scu.3_Missense_Mutation_p.D73N NM_152860 NP_690599 Q8TDD2 SP7_HUMAN Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA. 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 GGAGGGTAATCATTAGCATAG 0.577000 70 43 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118997664 118997664 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:118997664C>T uc004bjn.3 + 6 2861 c.2480C>T c.(2479-2481)tCc>tTc p.S827F PAPPA_uc011lxp.1_Missense_Mutation_p.S522F|PAPPA_uc011lxq.2_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 827 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AAGAACATCTCCCTGGGTCCT 0.522000 23 9 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28808689 28808689 + Missense_Mutation SNP G A A rs150817073 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:28808689G>A uc002rmb.2 + 25 1839 c.1795G>A c.(1795-1797)Gaa>Aaa p.E599K PLB1_uc010ezj.2_Missense_Mutation_p.E588K|PLB1_uc002rmc.3_Missense_Mutation_p.E287K|PLB1_uc002rmd.1_Missense_Mutation_p.E109K NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 599 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TACCCTCATCGAATTCAACAA 0.463000 48 21 0 0 1 0 0 HGFAC 3083 broad.mit.edu 37 4 3447795 3447795 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:3447795C>T uc003ghc.3 + 9 1132 c.1129C>T c.(1129-1131)Ccg>Tcg p.P377S HGFAC_uc010icw.3_Missense_Mutation_p.P384S NM_001528 NP_001519 Q04756 HGFA_HUMAN Homo sapiens HGF activator (HGFAC), mRNA. 377 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCAACTGTCACCGGATCTCCT 0.667000 9 8 0 0 1 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72462070 72462070 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:72462070G>A uc001jrg.3 + 2 525 c.525G>A c.(523-525)gcG>gcA p.A175A ADAMTS14_uc001jrh.3_Silent_p.A175A NM_139155 NP_631894 Q8WXS8 ATS14_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA. 175 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.A175A(2) NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TGGTTCAGGCGGGCCTCATCC 0.587000 70 38 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411926 126411926 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:126411926C>T uc003ifj.4 + 16 13949 c.13949C>T c.(13948-13950)tCa>tTa p.S4650L FAT4_uc011cgp.2_Missense_Mutation_p.S2891L|FAT4_uc003ifi.1_Missense_Mutation_p.S2127L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4650 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCAAAATTTTCAATCCAGAGG 0.498000 20 13 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122001057 122001057 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:122001057C>T uc003eew.4 + 5 2174 c.1736C>T c.(1735-1737)cCt>cTt p.P579L CASR_uc003eev.4_Missense_Mutation_p.P569L NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 569 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.A579T(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GTGGAGTGTCCTGATGGGGAG 0.597000 96 46 0 0 1 0 0 APOL6 80830 broad.mit.edu 37 22 36055365 36055365 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:36055365C>T uc003aoe.3 + 2 1048 c.754C>T c.(754-756)Ctc>Ttc p.L252F APOL6_uc003aod.3_Non-coding_Transcript NM_030641 NP_085144 Q9BWW8 APOL6_HUMAN Homo sapiens apolipoprotein L, 6 (APOL6), mRNA. 252 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity p.L252L(1) haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 CTTGGCCACTCTCTCAAAGGA 0.532000 74 26 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15124517 15124517 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:15124517G>A uc002nae.2 + 1 703 c.604G>A c.(604-606)Gag>Aag p.E202K NM_173482 NP_775753 Q8IYK2 CC105_HUMAN Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA. 202 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 GCTTACATGGGAGAAAGAGGA 0.473000 29 14 0 0 1 0 0 FAM107B 83641 broad.mit.edu 37 10 14564008 14564008 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:14564008G>A uc001ina.1 - 3 898 c.664C>T c.(664-666)Cct>Tct p.P222S FAM107B_uc010qbu.1_Non-coding_Transcript|FAM107B_uc001imx.1_Missense_Mutation_p.P47S|FAM107B_uc009xjg.1_Missense_Mutation_p.P47S|FAM107B_uc001imy.1_Missense_Mutation_p.P47S|FAM107B_uc001imz.1_Missense_Mutation_p.P47S NM_031453 NP_113641 Q9H098 F107B_HUMAN Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA. 47 breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TTGTTCTGAGGAGCAAGACCC 0.358000 29 14 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30532830 30532830 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:30532830G>A uc002dyi.4 + 30 3533 c.3357G>A c.(3355-3357)cgG>cgA p.R1119R ITGAL_uc002dyj.4_Silent_p.R1035R|ITGAL_uc010vev.2_Silent_p.R353R NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 1119 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TCTTCAAACGGAACCTGAAGG 0.478000 42 9 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103898686 103898686 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:103898686C>T uc001kum.3 + 3 579 c.540C>T c.(538-540)atC>atT p.I180I PPRC1_uc001kun.3_Silent_p.I60I|PPRC1_uc010qqj.2_Silent_p.I180I|PPRC1_uc009xxa.3_5'Flank NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA. 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GTGACCTCATCACCCCAGTTG 0.547000 31 24 0 0 1 0 0 MTCP1 4515 broad.mit.edu 37 X 154293955 154293955 + Missense_Mutation SNP T G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:154293955T>G uc004fmz.2 - 2 841 c.215A>C c.(214-216)tAc>tCc p.Y72S MTCP1NB_uc004fmy.3_Intron NM_001018025 NP_001018025 P56278 MTCP1_HUMAN Homo sapiens mature T-cell proliferation 1 (MTCP1), nuclear gene encoding mitochondrial protein, mRNA. 72 cell proliferation large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTCCTCCGGGTAGAGTTGCCA 0.483000 T TRA@ T cell prolymphocytic leukemia 16 46 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124395567 124395567 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:124395567C>T uc001lgk.1 + 49 6328 c.6222C>T c.(6220-6222)tcC>tcT p.S2074S DMBT1_uc001lgl.1_Silent_p.S2064S|DMBT1_uc001lgm.1_Silent_p.S1446S|DMBT1_uc021qaf.1_Silent_p.S2074S|DMBT1_uc021qag.1_Silent_p.S2064S|DMBT1_uc021qah.1_Silent_p.S1446S|DMBT1_uc009xzz.1_Silent_p.S2073S|DMBT1_uc010qtx.1_Silent_p.S794S|DMBT1_uc009yab.1_Silent_p.S777S|DMBT1_uc009yac.1_Silent_p.S368S NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2074 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ACCGCAGTTCCCCTCTCATTG 0.502000 39 14 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24885848 24885848 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:24885848C>T uc001wpf.4 + 8 5211 c.4893C>T c.(4891-4893)ggC>ggT p.G1631G NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 1631 Integrase catalytic. DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GTGAGGAGGGCCATAAGCATG 0.597000 25 19 0 0 1 0 0 GMPS 8833 broad.mit.edu 37 3 155655416 155655416 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:155655416C>T uc003faq.3 + 15 2352 c.2017C>T c.(2017-2019)Cct>Tct p.P673S GMPS_uc011bom.2_Missense_Mutation_p.P574S NM_003875 NP_003866 P49915 GUAA_HUMAN Homo sapiens guanine monphosphate synthetase (GMPS), mRNA. 673 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TAAGAAGATTCCTGGTATTTC 0.383000 T MLL AML 36 12 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71497599 71497599 + Missense_Mutation SNP A G G rs121908109 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:71497599A>G uc011caw.1 + 3 438 c.157A>G c.(157-159)Aaa>Gaa p.K53E NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 53 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) ATTTAGCAGTAAAAGTGAGGA 0.393000 133 76 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8656920 8656921 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:8656920_8656921GG>AA uc002mkj.1 - 13 1928_1929 c.1654_1655CC>TT c.(1654-1656)ccg>TTg p.P552L ADAMTS10_uc002mki.1_Missense_Mutation_p.R43C|ADAMTS10_uc002mkk.1_Missense_Mutation_p.P184L NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 552 TSP type-1 1. 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 TGGAGTCCACGGCCCCCAGGCT 0.683000 19 13 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866294 139866294 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:139866294C>T uc004fbg.1 - 0 430 c.238G>A c.(238-240)Gat>Aat p.D80N AK054921_uc004fbf.1_Non-coding_Transcript NM_004065 NP_004056 P51861 CDR1_HUMAN Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA. 80 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) TCCAGAAAATCCTTGTCTTCC 0.468000 16 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179457292 179457292 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179457292G>A uc021vsy.1 - 249 51961 c.51736C>T c.(51736-51738)Cca>Tca p.P17246S MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P10941S|TTN_uc021vta.1_Missense_Mutation_p.P10874S|TTN_uc021vtb.1_Missense_Mutation_p.P10749S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18173 Fibronectin type-III 25. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P17246L(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) TTTGGGAATGGCACTCCTTTG 0.408000 103 40 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79803495 79803495 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:79803495G>A uc002kbn.1 - 8 1498 c.1301C>T c.(1300-1302)gCc>gTc p.A434V P4HB_uc002kbl.1_Missense_Mutation_p.A111V|P4HB_uc002kbm.1_Missense_Mutation_p.A111V NM_000918 NP_000909 P07237 PDIA1_HUMAN Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA. 434 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) CACTTTGACGGCCTCCACCTC 0.582000 21 17 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144101747 144101747 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:144101747G>A uc022aoj.1 - 1 112 c.112C>T c.(112-114)Cct>Tct p.P38S NM_001080413 NP_001073882 O60393 NOBOX_HUMAN Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA. 38 cell differentiation|oogenesis nucleus sequence-specific DNA binding p.P38S(3) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CCACACACAGGAAATTCAGGT 0.517000 111 85 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60786732 60786733 + Missense_Mutation DNP CC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:60786732_60786733CC>TT uc001nqq.3 + 12 2174_2175 c.1949_1950CC>TT c.(1948-1950)ccc>cTT p.P650L CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.P583L|CD6_uc001nqt.3_Missense_Mutation_p.P574L NM_006725 NP_006716 P30203 CD6_HUMAN Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA. 650 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 ACAGGGTCCCCCAGCCCTCAGC 0.639000 17 7 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50100062 50100062 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:50100062C>T uc002poo.4 + 3 2470 c.2470C>T c.(2470-2472)Ctt>Ttt p.L824F NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN Homo sapiens proline rich 12 (PRR12), mRNA. 505 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CGTCCACCTCCTTGAGCCAGC 0.731000 13 11 0 0 1 0 0 C19orf47 126526 broad.mit.edu 37 19 40832354 40832354 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:40832354G>A uc002oni.4 - 6 591 c.590C>T c.(589-591)cCt>cTt p.P197L C19orf47_uc002ong.3_Missense_Mutation_p.P56L|C19orf47_uc002onh.3_Missense_Mutation_p.P130L NM_178830 NP_849152 Q8N9M1 CS047_HUMAN Homo sapiens chromosome 19 open reading frame 47 (C19orf47), mRNA. 197 endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) CCGCTTGGCAGGAACAGCCAG 0.627000 21 17 0 0 1 0 0 RYK 6259 broad.mit.edu 37 3 133878113 133878113 + Silent SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:133878113T>A uc003eqc.1 - 14 1775 c.1677A>T c.(1675-1677)cgA>cgT p.R559R RYK_uc003eqd.1_Silent_p.R556R NM_001005861 NP_001005861 P34925 RYK_HUMAN Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA. 557 Protein kinase. Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 GCTGGGCTATTCGGTAACCAT 0.453000 19 15 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17483217 17483217 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:17483217G>A uc001mnc.3 - 4 861 c.735C>T c.(733-735)atC>atT p.I245I ABCC8_uc010rcy.1_Silent_p.I245I NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 245 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) CTCGCAAGTCGATGGGCTTCT 0.607000 58 33 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117768283 117768283 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:117768283C>T uc001twn.2 - 1 1303 c.592G>A c.(592-594)Ggc>Agc p.G198S NOS1_uc001twm.2_Missense_Mutation_p.G198S NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 198 Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.G198G(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCCCCTCTGCCTTGGAGGCTG 0.642000 94 54 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75982861 75982861 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:75982861C>T uc002baw.3 - 2 638 c.545G>A c.(544-546)cGg>cAg p.R182Q NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA. 182 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GGTCAGAGGCCGGAGGAGGCT 0.657000 64 4 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054186 29054186 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:29054186G>A uc003nlx.3 - 0 905 c.840C>T c.(838-840)atC>atT p.I280I NM_001005226 NP_001005226 Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA. p.G279*(1) breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 TGGATGTGATGATTCCATAGA 0.413000 28 58 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56459573 56459573 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:56459573C>T uc002qmh.3 + 0 376 c.305C>T c.(304-306)tCg>tTg p.S102L NLRP8_uc010etg.3_Missense_Mutation_p.S102L NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 102 DAPIN. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GATGTGACTTCGAACATCTTT 0.507000 42 20 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179598191 179598191 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179598191G>A uc021vsy.1 - 50 12322 c.12097C>T c.(12097-12099)Ccc>Tcc p.P4033S TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P694S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4960 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) AGTGTGGCGGGATCTCCTGCT 0.478000 105 76 0 0 1 0 0 ATG4A 115201 broad.mit.edu 37 X 107381055 107381055 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:107381055C>T uc004enr.3 + 7 727 c.569C>T c.(568-570)cCc>cTc p.P190L ATG4A_uc004ens.3_Missense_Mutation_p.P106L|ATG4A_uc011msl.2_Missense_Mutation_p.P106L|ATG4A_uc010npi.3_Non-coding_Transcript|ATG4A_uc004ent.3_Missense_Mutation_p.P190L NM_052936 NP_443168 Q8WYN0 ATG4A_HUMAN Homo sapiens ATG4 autophagy related 4 homolog A (S. cerevisiae) (ATG4A), transcript variant 1, mRNA. 190 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1) 11 CGTGTCCTTCCCTTGAGTGCT 0.468000 27 49 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91652971 91652971 + Missense_Mutation SNP A T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:91652971A>T uc004aqf.2 - 10 1900 c.1593T>A c.(1591-1593)ttT>ttA p.F531L NM_016848 NP_058544 Q92529 SHC3_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA. 531 SH2. Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 CCGTGAGGACAAAGGAGCCCG 0.632000 23 41 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46244064 46244064 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:46244064C>T uc001ros.1 + 14 2158 c.2158C>T c.(2158-2160)Cag>Tag p.Q720* ARID2_uc001ror.3_Nonsense_Mutation_p.Q720*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q176*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q347*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q54* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 720 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TACAGTTATCCAGAATTCCAT 0.448000 """N, S, F""" hepatocellular carcinoma 72 35 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188340 57188340 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:57188340C>T uc010kzo.3 - 4 1053 c.782G>A c.(781-783)aGa>aAa p.R261K NM_033273 NP_150376 Q96JC4 ZN479_HUMAN Homo sapiens zinc finger protein 479 (ZNF479), mRNA. 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) AGTATGAGTTCTCTTATGTCT 0.423000 33 16 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112144689 112144689 + Silent SNP G A A rs150855452 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:112144689G>A uc004bed.2 - 23 2533 c.2421C>T c.(2419-2421)gtC>gtT p.V807V PTPN3_uc004beb.2_Silent_p.V676V|PTPN3_uc004bec.2_Silent_p.V631V|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Silent_p.V762V|PTPN3_uc011lwh.1_Silent_p.V653V|PTPN3_uc011lwd.1_Silent_p.V275V|PTPN3_uc011lwe.1_Silent_p.V520V|PTPN3_uc011lwf.1_Silent_p.V475V NM_002829 NP_001138843 P26045 PTN3_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA. 807 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 CAGGCCATGCGACGTACTGGA 0.577000 60 25 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179595517 179595517 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179595517G>A uc021vsy.1 - 57 14236 c.14011C>T c.(14011-14013)Ctt>Ttt p.L4671F TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1332F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5598 Ig-like 27. 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) GGTATGATAAGATCTATTCAA 0.313000 41 15 0 0 1 0 0 ICA1 3382 broad.mit.edu 37 7 8198186 8198186 + Missense_Mutation SNP G C C rs17847180 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:8198186G>C uc003sro.4 - 6 812 c.676C>G c.(676-678)Ctc>Gtc p.L226V ICA1_uc010ktr.3_Missense_Mutation_p.L226V|ICA1_uc003srm.3_Missense_Mutation_p.L226V|ICA1_uc003srn.4_Missense_Mutation_p.L152V|ICA1_uc003srq.3_Missense_Mutation_p.L226V|ICA1_uc003srr.3_Missense_Mutation_p.L225V|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Missense_Mutation_p.L226V NM_001136020 NP_071682 Q05084 ICA69_HUMAN Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA. 226 AH. neurotransmitter transport Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TGAGACAAGAGATTGCATCTG 0.373000 40 32 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106974288 106974288 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:106974288C>T uc001kyi.1 + 17 2691 c.2464C>T c.(2464-2466)Cgg>Tgg p.R822W SORCS3_uc010qqz.1_Non-coding_Transcript NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 822 integral to membrane neuropeptide receptor activity p.P821S(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AAAAGCCCCTCGGGGCCTCCA 0.572000 26 15 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236918340 236918340 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:236918340C>T uc001hyf.2 + 16 2200 c.1996C>T c.(1996-1998)Cag>Tag p.Q666* ACTN2_uc001hyg.2_Nonsense_Mutation_p.Q458*|ACTN2_uc009xgi.1_Nonsense_Mutation_p.Q666*|ACTN2_uc010pxu.1_Nonsense_Mutation_p.Q355* NM_001103 NP_001094 P35609 ACTN2_HUMAN Homo sapiens actinin, alpha 2 (ACTN2), mRNA. 666 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GAGCTCCATCCAGATCACAGG 0.557000 73 33 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119729088 119729088 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:119729088C>T uc002tln.1 + 3 570 c.438C>T c.(436-438)atC>atT p.I146I MARCO_uc010yyf.1_Silent_p.I68I NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 146 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 TGTTCAGAATCAAAGGTGAAC 0.582000 71 33 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155215199 155215199 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:155215199G>A uc021xge.1 - 13 2045 c.1768C>T c.(1768-1770)Cgc>Tgc p.R590C PLCH1_uc021xgd.1_Missense_Mutation_p.R590C|PLCH1_uc021xgf.1_Missense_Mutation_p.R572C NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 590 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity p.Y589C(1) NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTCCTTCGGCGACCCAATCTG 0.463000 44 27 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169539844 169539844 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:169539844C>T uc003fgb.3 + 0 135 c.135C>T c.(133-135)ttC>ttT p.F45F NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA. 45 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TGGAGATCTTCACATTCACAG 0.398000 48 31 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238245176 238245176 + Splice_Site SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:238245176C>T uc002vwl.2 - 40 8853 c.8568_splice c.e40-1 p.V2856_splice COL6A3_uc002vwo.2_Splice_Site_p.V2650_splice|COL6A3_uc010znj.1_Splice_Site_p.V2249_splice|COL6A3_uc002vwj.2_Splice_Site_p.V237_splice NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 2856 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CGGAACATTTCTGTTAAGACA 0.388000 37 22 0 0 1 0 0 ALDH3A1 218 broad.mit.edu 37 17 19643780 19643780 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:19643780C>T uc002gwk.3 - 4 1432 c.1169G>A c.(1168-1170)gGg>gAg p.G390E ALDH3A1_uc010cqu.3_Missense_Mutation_p.G273E|ALDH3A1_uc010vzd.2_Missense_Mutation_p.G273E|ALDH3A1_uc002gwj.3_Missense_Mutation_p.G273E|ALDH3A1_uc010cqv.3_Missense_Mutation_p.G272E|ALDH3A1_uc002gwl.1_Missense_Mutation_p.G200E P30838 AL3A1_HUMAN Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA. 273 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) AGCATCTTCCCCGTAGAACTC 0.572000 68 22 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57828183 57828183 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:57828183G>A uc002yan.3 + 3 4178 c.4178G>A c.(4177-4179)cGa>cAa p.R1393Q NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1393 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) ATGGACAAACGAACTGTGAAG 0.468000 83 40 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123842262 123842262 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:123842262G>A uc001lfv.3 + 3 607 c.247G>A c.(247-249)Gac>Aac p.D83N TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.D83N|TACC2_uc010qtv.2_Missense_Mutation_p.D83N NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 83 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GCCAAGGAAGGACCCACAGGG 0.632000 45 23 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59113798 59113798 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:59113798G>A uc001xdw.3 + 3 2621 c.2457G>A c.(2455-2457)aaG>aaA p.K819K DACT1_uc010trv.2_Silent_p.K538K|DACT1_uc001xdx.3_Silent_p.K782K|DACT1_uc010trw.2_Silent_p.K538K NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA. 819 Wnt receptor signaling pathway|multicellular organismal development cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 ATAACCTCAAGAAGAAGATCC 0.453000 62 36 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21169793 21169793 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:21169793G>A uc001iqi.3 - 4 807 c.410C>T c.(409-411)tCa>tTa p.S137L NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 137 KHDAAKGFSD -> NMMLPRILS (in Ref. 2; AAF24858). regulation of actin filament length actin binding|structural constituent of muscle p.F136F(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GGCATAATCTGAGAATCCTTT 0.403000 58 34 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107288684 107288684 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:107288684C>T uc011lvn.2 - 0 807 c.807G>A c.(805-807)ggG>ggA p.G269G NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA. 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 AGTTGTCTTTCCCAAGGAGGT 0.423000 9 17 0 0 1 0 0 FUCA1 2517 broad.mit.edu 37 1 24172303 24172303 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:24172303C>T uc001bie.3 - 7 1386 c.1303G>A c.(1303-1305)Gat>Aat p.D435N NM_000147 NP_000138 P04066 FUCO_HUMAN Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA. 435 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1)|endometrium(1)|large_intestine(3)|lung(3) 8 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;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) TTATCTGGATCTGTGGACCAC 0.438000 66 27 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48407424 48407424 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:48407424G>A uc003toq.2 + 31 10746 c.10722G>A c.(10720-10722)ctG>ctA p.L3574L ABCA13_uc010kys.1_Silent_p.L648L|ABCA13_uc003tos.1_Silent_p.L400L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 3574 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTTTTCCACTGATAATGATGC 0.398000 1 2 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51129154 51129154 + Splice_Site SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:51129154C>T uc002pst.3 - 5 2036 c.1402_splice c.e5+1 p.D468_splice SYT3_uc002psv.3_Splice_Site_p.D468_splice|SYT3_uc010ycd.2_Splice_Site_p.D468_splice NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA. 468 C2 2. cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) ggACCCTCACCTGAGAAGCCA 0.647000 16 4 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027200 37027200 + Silent SNP A C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:37027200A>C uc004ddl.2 + 0 769 c.717A>C c.(715-717)ccA>ccC p.P239P NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 239 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 TGGAGCCTCCAGAGACTGGAG 0.637000 48 3 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32635800 32635800 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:32635800G>A uc001mtv.3 - 15 2108 c.2064C>T c.(2062-2064)gtC>gtT p.V688V NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA. 688 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TATCATTACAGACTTGCAGAA 0.303000 34 14 0 0 1 0 0 HOXB2 3212 broad.mit.edu 37 17 46620533 46620533 + Missense_Mutation SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:46620533G>T uc002inm.3 - 1 1088 c.968C>A c.(967-969)tCc>tAc p.S323Y NM_002145 NP_002136 P14652 HXB2_HUMAN Homo sapiens homeobox B2 (HOXB2), mRNA. 323 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S323C(2) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TAGGCTAGGGGAGAGGCCTCC 0.582000 54 26 5.52252e-06 5.54939e-06 1 1 0 ADORA2A 135 broad.mit.edu 37 22 24836677 24836677 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:24836677G>A uc002zzx.3 + 4 1222 c.459G>A c.(457-459)aaG>aaA p.K153K SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Silent_p.K153K|ADORA2A_uc011ajs.2_Silent_p.K14K|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guq.3_Silent_p.K153K|ADORA2A_uc010gup.3_Silent_p.K153K|ADORA2A_uc003aab.3_Silent_p.K153K|C22orf45_uc003aad.1_Intron NM_000675 NP_000666 P29274 AA2AR_HUMAN Homo sapiens adenosine A2a receptor (ADORA2A), mRNA. 153 apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1) 21 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) AGGAGGGCAAGAACCACTCCC 0.572000 181 226 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41694357 41694357 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:41694357G>A uc003gvz.4 + 30 4751 c.4334G>A c.(4333-4335)cGa>cAa p.R1445Q LIMCH1_uc003gwe.4_Missense_Mutation_p.R958Q|LIMCH1_uc003gvu.4_Missense_Mutation_p.R1061Q|LIMCH1_uc003gvv.4_Missense_Mutation_p.R1035Q|LIMCH1_uc003gvw.4_Missense_Mutation_p.R1034Q|LIMCH1_uc003gvx.4_Missense_Mutation_p.R1047Q|LIMCH1_uc003gvy.4_Missense_Mutation_p.R863Q|LIMCH1_uc003gwa.4_Missense_Mutation_p.R875Q|LIMCH1_uc011byu.2_Missense_Mutation_p.R894Q|LIMCH1_uc003gwc.4_Missense_Mutation_p.R880Q|LIMCH1_uc003gwd.4_Missense_Mutation_p.R868Q|LIMCH1_uc011byv.2_Missense_Mutation_p.R811Q|LIMCH1_uc011byw.2_Missense_Mutation_p.R334Q|LIMCH1_uc010ifv.3_5'Flank NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA. 1061 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 GTTAGGATTCGAAATGGTCTC 0.428000 47 26 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140182171 140182171 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140182171C>T uc003lhf.2 + 0 1389 c.1389C>T c.(1387-1389)ttC>ttT p.F463F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.F463F NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 477 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) ACACGGTGTTCGTGAAGGAGA 0.662000 77 58 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936189 4936189 + Silent SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4936189G>T uc001lzr.1 - 0 705 c.705C>A c.(703-705)tcC>tcA p.S235S NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA. 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTCAGCCCTGGAGGCGATGG 0.522000 26 22 1.55795e-14 1.57781e-14 1 1 0 CNTN2 6900 broad.mit.edu 37 1 205022330 205022330 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:205022330G>A uc001hbr.3 + 1 286 c.17G>A c.(16-18)aGg>aAg p.R6K CNTN2_uc001hbq.1_5'UTR NM_005076 NP_005067 Q02246 CNTN2_HUMAN Homo sapiens contactin 2 (axonal) (CNTN2), mRNA. 6 axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACAGCCACCAGGAGGAAGCCA 0.597000 87 33 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57258104 57258104 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:57258104C>T uc001cym.4 - 1 788 c.382G>A c.(382-384)Gaa>Aaa p.E128K C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.E128K NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 128 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 ATTACTTTTTCCTTAGTGATT 0.428000 99 33 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134671205 134671205 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:134671205C>T uc021qbc.1 - 38 5564 c.5463G>A c.(5461-5463)gaG>gaA p.E1821E NM_001200049 NP_001186978 Q8IYW2 CJ092_HUMAN Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA. 486 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TCCCTTCTTCCTCAGCTACGG 0.537000 10 8 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126726729 126726730 + Silent DNP CC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:126726729_126726730CC>TT uc003ejg.3 + 7 2085_2086 c.2085_2086CC>TT c.(2083-2088)ttcctg>ttTTtg p.695_696FL>FL NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 695 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) ACTGCGCCTTCCTGGAGGGCCG 0.604000 37 7 0 0 1 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80203735 80203735 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:80203735G>A uc001syz.3 - 9 1562 c.1295C>T c.(1294-1296)tCt>tTt p.S432F PPP1R12A_uc010suc.2_Missense_Mutation_p.S345F|PPP1R12A_uc001sza.3_Missense_Mutation_p.S432F|PPP1R12A_uc010sud.2_Missense_Mutation_p.S432F|PPP1R12A_uc001szb.3_Missense_Mutation_p.S432F|PPP1R12A_uc001szc.2_Missense_Mutation_p.S432F NM_002480 NP_001137358 O14974 MYPT1_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA. 432 contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 AGTTGCAGGAGACTCATCTTT 0.368000 12 5 0 0 1 0 0 CTSS 1520 broad.mit.edu 37 1 150727607 150727607 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:150727607G>A uc001evn.3 - 3 530 c.269C>T c.(268-270)tCt>tTt p.S90F CTSS_uc010pcj.2_Intron NM_004079 NP_004070 P25774 CATS_HUMAN Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA. 90 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) ACTCATCAAAGACATCACTTC 0.408000 118 51 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120567141 120567141 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:120567141G>A uc001txo.3 - 56 7842 c.7829C>T c.(7828-7830)gCc>gTc p.A2610V NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 2610 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTCGCTGTAGGCCCTGACCAC 0.587000 97 61 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9043442 9043442 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9043442C>T uc002mkp.3 - 5 36291 c.36087G>A c.(36085-36087)tgG>tgA p.W12029* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12031 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 TGGTGGAGATCCAGGACCGAT 0.522000 5 4 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130893 45130893 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:45130893G>A uc002xsa.3 - 3 1616 c.1154C>T c.(1153-1155)tCg>tTg p.S385L ZNF334_uc002xsb.3_Missense_Mutation_p.S324L|ZNF334_uc002xsd.3_Missense_Mutation_p.S324L|ZNF334_uc002xsc.3_Missense_Mutation_p.S362L|ZNF334_uc010ghl.3_Missense_Mutation_p.S361L Q9HCZ1 ZN334_HUMAN Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA. 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) AACAAGATACGATTTCTTGCT 0.453000 110 61 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62041996 62041996 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:62041996C>T uc002jds.1 - 8 1361 c.1284G>A c.(1282-1284)gtG>gtA p.V428V NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 428 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) AGATGATGACCACGAAGAAGA 0.577000 9 7 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183777793 183777793 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:183777793G>A uc003fmk.3 + 7 1137 c.1103G>A c.(1102-1104)gGa>gAa p.G368E NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA. 368 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity p.G368K(2) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CCCCAGAAGGGAAATAAGGGC 0.642000 15 6 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59221534 59221534 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:59221534G>A uc010dps.1 + 10 2164 c.2012G>A c.(2011-2013)gGc>gAc p.G671D CDH20_uc002lif.2_Missense_Mutation_p.G665D NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 671 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G670G(1) breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GAGGGCGGCGGCGAGGAGGAC 0.652000 107 42 0 0 1 0 0 FAM105A 54491 broad.mit.edu 37 5 14602402 14602402 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:14602402C>T uc003jfj.3 + 4 572 c.459C>T c.(457-459)atC>atT p.I153I NM_019018 NP_061891 Q9NUU6 F105A_HUMAN Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA. 153 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) GCCAGGGCATCTCTTTTCCAT 0.403000 40 17 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179538395 179538395 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179538395G>A uc021vsy.1 - 146 31073 c.30848C>T c.(30847-30849)cCt>cTt p.P10283L MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6944L|TTN_uc010fre.1_Missense_Mutation_p.P791L|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11210 Glu-rich.|Pro-rich. 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) TTTAGGAACAGGAGTAGGTGC 0.353000 36 15 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158654964 158654964 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:158654964C>T uc001fst.1 - 1 397 c.198G>A c.(196-198)ggG>ggA p.G66G NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 66 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.L65M(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGATCCACTtccccagatcat 0.453000 24 14 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056341 9056341 + Missense_Mutation SNP T G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9056341T>G uc002mkp.3 - 2 31309 c.31105A>C c.(31105-31107)Agc>Cgc p.S10369R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10371 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 GTAGTGCTGCTCTCTGTCCCA 0.483000 40 23 0 0 1 0 0 OR2D2 120776 broad.mit.edu 37 11 6913034 6913034 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:6913034C>T uc010rau.2 - 0 698 c.698G>A c.(697-699)gGg>gAg p.G233E NM_003700 NP_003691 Q9H210 OR2D2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTTGAGACTCCCCACAGTTGA 0.428000 41 29 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12655875 12655875 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:12655875C>T uc002gno.2 + 9 1569 c.1270C>T c.(1270-1272)Cct>Tct p.P424S MYOCD_uc002gnn.2_Missense_Mutation_p.P424S|MYOCD_uc002gnp.1_Missense_Mutation_p.P328S|MYOCD_uc002gnq.2_Missense_Mutation_p.P143S NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 424 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) TGTCACTTTTCCTGTCACACC 0.572000 72 41 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99315192 99315192 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:99315192C>T uc003uru.3 - 4 492 c.389G>A c.(388-390)cGa>cAa p.R130Q ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA. 130 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) CAGCAATGATCGTATTCTCTT 0.398000 31 17 0 0 1 0 0 SCFD2 152579 broad.mit.edu 37 4 54218927 54218927 + Missense_Mutation SNP A C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:54218927A>C uc003gzu.3 - 1 979 c.845T>G c.(844-846)gTt>gGt p.V282G SCFD2_uc010igm.3_Missense_Mutation_p.V282G NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA. 282 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) ATGATGTCCAACTGCTCCTGT 0.393000 21 23 0 0 1 0 0 C10orf68 79741 broad.mit.edu 37 10 33136833 33136833 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:33136833G>A uc001iwm.1 + 16 1738 c.1502G>A c.(1501-1503)aGg>aAg p.R501K C10orf68_uc001iwl.1_Missense_Mutation_p.R456K|C10orf68_uc001iwn.4_Missense_Mutation_p.R497K|C10orf68_uc010qei.1_Missense_Mutation_p.R473K|C10orf68_uc001iwo.4_Non-coding_Transcript NM_024688 NP_078964 Q9H943 CJ068_HUMAN Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA. 497 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 ACACAACTAAGGACTCACTAT 0.303000 46 34 0 0 1 0 0 RIC8A 60626 broad.mit.edu 37 11 213384 213384 + Missense_Mutation SNP A T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:213384A>T uc001lof.3 + 8 1784 c.1459A>T c.(1459-1461)Atg>Ttg p.M487L RIC8A_uc001log.3_Missense_Mutation_p.M481L|RIC8A_uc001loh.3_Missense_Mutation_p.M474L NM_021932 NP_068751 Q9NPQ8 RIC8A_HUMAN Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA. 481 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) GCACGAGGCCATGAAGCTGGT 0.592000 5 5 0 0 1 0 0 IQSEC1 9922 broad.mit.edu 37 3 12950904 12950904 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:12950904G>A uc003bxt.2 - 10 2498 c.2489C>T c.(2488-2490)tCt>tTt p.S830F IQSEC1_uc003bxu.3_Missense_Mutation_p.S708F|IQSEC1_uc011auw.1_Missense_Mutation_p.S816F NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA. 830 PH. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCCGGGGACAGACGAGGTGAG 0.552000 59 26 0 0 1 0 0 PION 54103 broad.mit.edu 37 7 77010657 77010657 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:77010657G>A uc003ugf.3 - 7 620 c.541C>T c.(541-543)Cgt>Tgt p.R181C PION_uc003ugg.1_5'UTR NM_017439 NP_059135 A4D1B5 GSAP_HUMAN Homo sapiens pigeon homolog (Drosophila) (PION), mRNA. 181 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ACATGGATACGAAATTGTTCA 0.294000 28 16 0 0 1 0 0 AMICA1 120425 broad.mit.edu 37 11 118074365 118074365 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:118074365G>A uc001psk.2 - 5 724 c.550C>T c.(550-552)Cgt>Tgt p.R184C AMICA1_uc001psg.2_5'UTR|AMICA1_uc001psh.2_Missense_Mutation_p.R145C|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.R174C|AMICA1_uc010rxw.1_Missense_Mutation_p.R145C|AMICA1_uc010rxx.1_Missense_Mutation_p.R184C|AMICA1_uc001psl.1_Missense_Mutation_p.R140C NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA. 184 Ig-like V-type 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane p.R174G(1)|p.V183A(1)|p.R174C(1) central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TGGTAGTAACGAAATACAATC 0.502000 52 21 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129244015 129244015 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:129244015C>T uc003kvd.3 + 1 1048 c.1048C>T c.(1048-1050)Cgc>Tgc p.R350C NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA. 350 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) AAGATGCGTTCGCCGTTTTGG 0.438000 37 22 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100235009 100235009 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:100235009G>A uc003hus.4 - 5 881 c.797C>T c.(796-798)tCg>tTg p.S266L ADH1B_uc003hut.4_Missense_Mutation_p.S226L|ADH1B_uc011ceh.2_Missense_Mutation_p.S111L|ADH1B_uc011cei.1_Missense_Mutation_p.S226L NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 266 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.S266L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GACTTCAAACGAAAAATCCAC 0.463000 118 61 0 0 1 0 0 APBB2 323 broad.mit.edu 37 4 40946898 40946898 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:40946898G>A uc003gvn.3 - 6 1658 c.1028C>T c.(1027-1029)cCc>cTc p.P343L APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Missense_Mutation_p.P342L|APBB2_uc003gvm.3_Missense_Mutation_p.P342L|APBB2_uc011byt.1_Missense_Mutation_p.P325L NM_004307 NP_004298 Q92870 APBB2_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA. 342 cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 CTCTGGGGTGGGAGATGGCGT 0.498000 50 31 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216498906 216498906 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:216498906C>T uc001hku.1 - 5 1271 c.884G>A c.(883-885)aGa>aAa p.R295K USH2A_uc001hkv.3_Missense_Mutation_p.R295K NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 295 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGCATGCAATCTGAGAAGATC 0.512000 HNSCC(13;0.011) 27 18 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156925515 156925515 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:156925515G>A uc001fqo.3 - 18 2668 c.1628C>T c.(1627-1629)cCc>cTc p.P543L ARHGEF11_uc001fqn.3_Missense_Mutation_p.P583L|ARHGEF11_uc001fqp.1_Missense_Mutation_p.P72L NM_014784 NP_055599 O15085 ARHGB_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA. 543 G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction Golgi apparatus|cytosol|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGAGCTTTTGGGCTTCCCAAT 0.498000 125 72 0 0 1 0 0 WDR16 146845 broad.mit.edu 37 17 9532129 9532129 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:9532129T>A uc010coc.3 + 9 1425 c.1196T>A c.(1195-1197)aTc>aAc p.I399N WDR16_uc002gly.3_Missense_Mutation_p.I389N|WDR16_uc002glz.3_Missense_Mutation_p.I321N Q8N1V2 WDR16_HUMAN Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA. 389 cytoplasm|intracellular membrane-bounded organelle protein binding p.I398L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 GGCAAAAGCATCATTTCAGGT 0.522000 66 32 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31625434 31625434 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:31625434C>T uc010zuc.2 + 7 736 c.736C>T c.(736-738)Cct>Tct p.P246S BPIFB6_uc010zud.2_Missense_Mutation_p.P185S NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA. 246 extracellular region lipid binding CCTCACGTTCCCTGAGGGTTA 0.577000 70 28 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70986244 70986244 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:70986244C>T uc001swb.4 - 4 974 c.944G>A c.(943-945)gGa>gAa p.G315E PTPRB_uc010sto.2_Missense_Mutation_p.G315E|PTPRB_uc010stp.2_Missense_Mutation_p.G315E|PTPRB_uc001swc.4_Missense_Mutation_p.G533E|PTPRB_uc001swa.4_Missense_Mutation_p.G533E|PTPRB_uc001swd.4_Missense_Mutation_p.G532E|PTPRB_uc009zrr.2_Missense_Mutation_p.G412E|PTPRB_uc001swe.3_Missense_Mutation_p.G533E NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 315 Fibronectin type-III 4. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ATCCACATTTCCAGGAGGTCT 0.413000 11 8 0 0 1 0 0 ABLIM3 22885 broad.mit.edu 37 5 148620262 148620262 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:148620262C>T uc003lpy.2 + 13 1479 c.1228C>T c.(1228-1230)Cca>Tca p.P410S ABLIM3_uc003lpz.1_Missense_Mutation_p.P410S|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Intron|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron NM_014945 NP_055760 O94929 ABLM3_HUMAN Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA. 410 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGAGCTCTCCATACCATAG 0.562000 68 33 0 0 1 0 0 ANKRD20A2 441430 broad.mit.edu 37 2 95481655 95481655 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:95481655C>T uc010fhq.2 - 1 725 c.333G>A c.(331-333)atG>atA p.M111I ANKRD20A2_uc010fhp.3_Non-coding_Transcript NM_001012421 NP_001012421 Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA. 531 large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 TGTCATTTTTCATTGTACATA 0.299000 58 20 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41725439 41725439 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:41725439G>A uc002yyq.1 - 4 1339 c.887C>T c.(886-888)tCc>tTc p.S296F DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 296 Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTATCTGTTGGACACTTCACA 0.532000 77 45 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107595973 107595973 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:107595973C>T uc003vev.2 - 18 3026 c.2865G>A c.(2863-2865)agG>agA p.R955R LAMB1_uc003vew.2_Silent_p.R931R NM_002291 NP_002282 P07942 LAMB1_HUMAN Homo sapiens laminin, beta 1 (LAMB1), mRNA. 931 Laminin EGF-like 9. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTAGCAGCTCCTGGCAAACT 0.532000 29 16 0 0 1 0 0 LIPK 643414 broad.mit.edu 37 10 90499756 90499756 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:90499756C>T uc010qmv.2 + 6 820 c.820C>T c.(820-822)Cgc>Tgc p.R274C NM_001080518 NP_001073987 Q5VXJ0 LIPK_HUMAN Homo sapiens lipase, family member K (LIPK), mRNA. 274 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 12 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) TTTGCAGAGTCGCTTGGATGT 0.388000 25 18 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73066020 73066020 + RNA SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:73066020G>A uc004ebm.1 - 0 c.6569C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. ACCAGGCCAGGAAAAAGGGCC 0.498000 17 29 0 0 1 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6080834 6080834 + Missense_Mutation SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:6080834T>C uc003spp.3 - 8 954 c.808A>G c.(808-810)Aaa>Gaa p.K270E EIF2AK1_uc003spq.3_Missense_Mutation_p.K269E|EIF2AK1_uc011jwm.1_Missense_Mutation_p.K146E|EIF2AK1_uc003spr.1_Missense_Mutation_p.K62E NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA. 270 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) TCATCATTTTTAACACCACAT 0.403000 29 24 0 0 1 0 0 KLK4 9622 broad.mit.edu 37 19 51410226 51410226 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:51410226G>A uc002pua.1 - 4 729 c.729C>T c.(727-729)ttC>ttT p.F243F KLK4_uc002pty.1_3'UTR|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_Silent_p.F148F|KLK4_uc002puc.1_Non-coding_Transcript NM_004917 NP_004908 Q9Y5K2 KLK4_HUMAN Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA. 243 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) TCCACTCAGTGAATTTGCAGA 0.527000 84 37 0 0 1 0 0 OR8A1 390275 broad.mit.edu 37 11 124440531 124440531 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:124440531C>T uc010san.2 + 0 567 c.567C>T c.(565-567)ctC>ctT p.L189L NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA. 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L189L(2) haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 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;0.0214) GTGAGCACCTCATCAGTCACT 0.498000 48 30 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176760578 176760578 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:176760578G>A uc001gkz.3 + 18 6144 c.4980G>A c.(4978-4980)ctG>ctA p.L1660L PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1660 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.L1660M(1) 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 CCTCAGAGCTGAATTCTGTGG 0.443000 51 34 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579012 82579012 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:82579012G>A uc003uhx.2 - 5 11181 c.10892C>T c.(10891-10893)tCa>tTa p.S3631L PCLO_uc003uhv.2_Missense_Mutation_p.S3631L|PCLO_uc010lec.3_Missense_Mutation_p.S596L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3562 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 TTTGCCTGGTGAAAGTGGTGA 0.468000 71 31 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38843419 38843419 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:38843419C>T uc021yzh.1 + 52 7782 c.7673C>T c.(7672-7674)tCc>tTc p.S2558F DNAH8_uc003ooe.2_Missense_Mutation_p.S2341F NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. p.P2557H(1) 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 GGCGGTGTTTCCTGTGTCGAA 0.338000 67 13 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124412741 124412741 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:124412741C>T uc010sam.2 - 0 810 c.810G>A c.(808-810)ggG>ggA p.G270G NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA. 270 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) AGGACACTTTCCCTTGCTCGA 0.433000 24 23 0 0 1 0 0 IRF6 3664 broad.mit.edu 37 1 209968671 209968671 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:209968671G>A uc001hhq.2 - 4 776 c.472C>T c.(472-474)Ccc>Tcc p.P158S IRF6_uc010psm.2_Missense_Mutation_p.P63S NM_006147 NP_001193625 O14896 IRF6_HUMAN Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA. 158 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TCCTGGATGGGAACATGGTGC 0.507000 HNSCC(57;0.16) 76 48 0 0 1 0 0 CENPB 1059 broad.mit.edu 37 20 3766858 3766858 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:3766858G>A uc002wjk.3 - 0 480 c.273C>T c.(271-273)gcC>gcT p.A91A CDC25B_uc010zqk.2_5'Flank|CDC25B_uc010zql.2_5'Flank|CDC25B_uc010zqm.2_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN Homo sapiens centromere protein B, 80kDa (CENPB), mRNA. 91 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 CCGGCAGGCCGGCGGCGCGGA 0.652000 50 20 0 0 1 0 0 ATF1 466 broad.mit.edu 37 12 51213539 51213539 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:51213539C>T uc001rww.4 + 6 1101 c.793C>T c.(793-795)Ctt>Ttt p.L265F ATF1_uc010smu.2_Missense_Mutation_p.L130F NM_005171 NP_005162 P18846 ATF1_HUMAN Homo sapiens activating transcription factor 1 (ATF1), mRNA. 265 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|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 EWSR1/ATF1(347)|FUS/ATF1(4) breast(1)|large_intestine(1)|ovary(2) 4 TTTGAAGGATCTTTATTCCAA 0.284000 T """EWSR1, FUS""" """malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """ 23 10 0 0 1 0 0 OR9A2 135924 broad.mit.edu 37 7 142723778 142723778 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142723778C>T uc003wcc.1 - 0 442 c.442G>A c.(442-444)Gga>Aga p.G148R NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA. 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) GAAAGAAATCCAAACACCCAT 0.428000 100 30 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821662 5821662 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:5821662G>A uc010ndi.3 - 5 1632 c.1168C>T c.(1168-1170)Ccc>Tcc p.P390S NLGN4X_uc004crp.3_Missense_Mutation_p.P373S|NLGN4X_uc010ndh.3_Missense_Mutation_p.P353S|NLGN4X_uc004crq.3_Missense_Mutation_p.P353S|NLGN4X_uc004crr.3_Missense_Mutation_p.P353S|NLGN4X_uc010ndj.3_Missense_Mutation_p.P353S NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA. 353 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AGGATCTGGGGGTCGTCTGGG 0.582000 9 19 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136913436 136913436 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:136913436G>A uc004cew.3 - 5 1043 c.855C>T c.(853-855)ccC>ccT p.P285P BRD3_uc004cex.2_Silent_p.P285P NM_007371 NP_031397 Q15059 BRD3_HUMAN Homo sapiens bromodomain containing 3 (BRD3), mRNA. 285 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) GAGGCTTGATGGGGCGGCCAC 0.677000 T C15orf55 lethal midline carcinoma of young people 31 16 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104139016 104139016 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:104139016G>A uc001tjw.3 + 56 6283 c.6097G>A c.(6097-6099)Gaa>Aaa p.E2033K STAB2_uc009zug.3_Non-coding_Transcript NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 2033 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.C2032*(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GTGCCTCTGTGAAACGGGGTG 0.602000 26 7 0 0 1 0 0 MYOT 9499 broad.mit.edu 37 5 137219247 137219247 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:137219247G>A uc011cye.2 + 6 1008 c.991G>A c.(991-993)Gaa>Aaa p.E331K MYOT_uc003lbv.3_Missense_Mutation_p.E331K|MYOT_uc011cyg.2_Missense_Mutation_p.E147K|MYOT_uc011cyh.2_Missense_Mutation_p.E216K NM_001135940 NP_001129412 Q9UBF9 MYOTI_HUMAN Homo sapiens myotilin (MYOT), transcript variant 2, mRNA. 331 Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle p.G330R(1) cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TAGAGCAGGAGAAGCCACCTT 0.423000 35 10 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9345244 9345244 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:9345244G>A uc001qvl.3 - 11 1375 c.1346C>T c.(1345-1347)tCc>tTc p.S449F PZP_uc009zgl.3_Missense_Mutation_p.S318F NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TCCACTTAAGGAGAAAACACG 0.498000 35 23 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871324 51871324 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:51871324C>T uc002xwo.3 + 1 2214 c.1327C>T c.(1327-1329)Ccc>Tcc p.P443S TSHZ2_uc021wex.1_Missense_Mutation_p.P440S NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 443 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TTCTCTGGCTCCCAAGCCATC 0.478000 115 49 0 0 1 0 0 FAM170A 340069 broad.mit.edu 37 5 118968536 118968536 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:118968536C>T uc003ksm.2 + 1 374 c.164C>T c.(163-165)tCc>tTc p.S55F FAM170A_uc003ksl.2_Missense_Mutation_p.S55F|FAM170A_uc003ksn.3_Missense_Mutation_p.S55F|FAM170A_uc003kso.3_Intron NM_182761 NP_877438 A1A519 F170A_HUMAN Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA. 55 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 ACTTCTACCTCCGAATACTGC 0.552000 22 52 0 0 1 0 0 USF1 7391 broad.mit.edu 37 1 161010101 161010101 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:161010101G>A uc001fxi.3 - 9 929 c.734C>T c.(733-735)tCc>tTc p.S245F F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Missense_Mutation_p.S186F NM_007122 NP_996888 P22415 USF1_HUMAN Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA. 245 Helix-loop-helix motif. cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ACAAGCTTTGGATAGAATCCC 0.453000 54 28 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 34937857 34937857 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:34937857C>T uc003ojx.4 + 2 491 c.349C>T c.(349-351)Ctg>Ttg p.L117L ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvq.1_Non-coding_Transcript|ANKS1A_uc010jvr.1_5'Flank NM_015245 NP_056060 Q92625 ANS1A_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA. 117 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CTGCTACCCTCTGCATTTGGC 0.522000 119 30 0 0 1 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12955423 12955423 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:12955423C>T uc001auo.3 - 1 329 c.256G>A c.(256-258)Gat>Aat p.D86N NM_001039361 NP_001034450 O60809 PRA10_HUMAN Homo sapiens PRAME family member 10 (PRAMEF10), mRNA. 86 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) 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) ACCAGTGTATCAAGTCCCCTC 0.607000 32 22 0 0 1 0 0 BC039000 0 broad.mit.edu 37 10 42965547 42965547 + RNA SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:42965547G>C uc001izx.3 - 1 c.606C>G Homo sapiens cyclin Y-like 2, mRNA (cDNA clone IMAGE:4704933), with apparent retained intron. AAGTACTGAAGATGTGACCTC 0.423000 20 7 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132534888 132534888 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:132534888C>T uc001ujn.3 + 39 7373 c.7221C>T c.(7219-7221)ctC>ctT p.L2407L EP400_uc021rgq.1_Silent_p.L2406L|EP400_uc001ujm.3_Silent_p.L2326L NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2443 Myb-like. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) ACCGTCCTCTCCGTACGAGCC 0.517000 68 40 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41306738 41306738 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:41306738G>A uc002xkg.3 - 6 1105 c.921C>T c.(919-921)atC>atT p.I307I PTPRT_uc010ggj.3_Silent_p.I307I NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 307 Fibronectin type-III 1. 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 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) CATTTGGCTTGATCCACAGGT 0.552000 11 8 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119732133 119732133 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:119732133G>A uc002tln.1 + 5 737 c.605G>A c.(604-606)gGa>gAa p.G202E MARCO_uc010yyf.1_Missense_Mutation_p.G124E NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 202 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.G202A(2) 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 GGAGTCAAGGGAGAGGCGGGT 0.567000 18 7 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115394972 115394972 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:115394972G>A uc003ebr.2 + 2 925 c.251G>A c.(250-252)aGg>aAg p.R84K GAP43_uc003ebq.2_Missense_Mutation_p.R48K NM_001130064 NP_001123536 P17677 NEUM_HUMAN Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA. 48 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) CACATAACAAGGAAAAAGCTC 0.458000 34 14 0 0 1 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33806552 33806552 + Missense_Mutation SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:33806552T>C uc002hjn.3 - 2 1478 c.764A>G c.(763-765)aAc>aGc p.N255S SLFN12L_uc021tuy.1_Missense_Mutation_p.N226S NM_001195790 NP_001182719 Q6IEE8 SN12L_HUMAN Homo sapiens schlafen family member 12-like (SLFN12L), mRNA. 258 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 AGTCGAGAAGTTTTTTATTTC 0.343000 32 17 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2797695 2797695 + Missense_Mutation SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:2797695C>A uc009zdu.1 + 48 6429 c.6116C>A c.(6115-6117)cCa>cAa p.P2039Q CACNA1C_uc001qkc.2_Missense_Mutation_p.P1975Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.P1956Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.P1975Q|CACNA1C_uc001qke.2_Missense_Mutation_p.P1945Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.P1964Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.P1997Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.P1962Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.P1964Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.P2004Q|CACNA1C_uc001qkj.2_Missense_Mutation_p.P1991Q|CACNA1C_uc001qkk.2_Missense_Mutation_p.P1956Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.P1956Q|CACNA1C_uc001qkm.2_Missense_Mutation_p.P2016Q|CACNA1C_uc001qko.2_Missense_Mutation_p.P1976Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.P1956Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.P1984Q|CACNA1C_uc001qku.2_Missense_Mutation_p.P1991Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.P1973Q|CACNA1C_uc001qks.2_Missense_Mutation_p.P1956Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.P1975Q|CACNA1C_uc009zdv.1_Missense_Mutation_p.P1953Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.P1956Q|CACNA1C_uc001qki.1_Missense_Mutation_p.P1763Q|CACNA1C_uc010sea.1_Missense_Mutation_p.P647Q|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.P274Q NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 2039 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCCACCCCACCAGCCACACCT 0.652000 54 30 3.54561e-26 3.60674e-26 1 1 0 CFHR1 3078 broad.mit.edu 37 1 196801025 196801025 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:196801025G>A uc001gtn.3 + 5 1003 c.889G>A c.(889-891)Gaa>Aaa p.E297K CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.E201K NM_002113 NP_002104 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 1 (CFHR1), mRNA. 297 Sushi 5. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 TGAATCAGCTGAATTTGTGTG 0.398000 27 51 0 0 1 0 0 GINS2 51659 broad.mit.edu 37 16 85712224 85712224 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:85712224C>T uc002fja.3 - 3 438 c.354G>A c.(352-354)aaG>aaA p.K118K NM_016095 NP_057179 Q9Y248 PSF2_HUMAN Homo sapiens GINS complex subunit 2 (Psf2 homolog) (GINS2), mRNA. 118 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle nucleoplasm protein binding endometrium(2)|large_intestine(2)|lung(2) 6 CCCACATATCCTTGACCAGGG 0.542000 68 44 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41601683 41601683 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:41601683G>A uc002opt.3 + 8 1331 c.1322G>A c.(1321-1323)gGa>gAa p.G441E NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 441 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) TACTGTTTTGGAGAAGGCCTG 0.562000 53 27 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216348660 216348660 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:216348660G>A uc001hku.1 - 20 4948 c.4561C>T c.(4561-4563)Cgt>Tgt p.R1521C USH2A_uc001hkv.3_Missense_Mutation_p.R1521C NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1521 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCTATGAAACGGATTCCTTTC 0.433000 HNSCC(13;0.011) 23 10 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63069934 63069934 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:63069934C>T uc009yor.3 + 6 1412 c.1204C>T c.(1204-1206)Cat>Tat p.H402Y SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_Intron NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA. 402 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 GACACTAAATCATATGGGCCG 0.463000 46 16 0 0 1 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011861 46011861 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:46011861A>G uc002zfm.3 - 0 526 c.505T>C c.(505-507)Tcc>Ccc p.S169P TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198688 NP_941961 P60371 KR106_HUMAN Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA. 169 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 CACGAAGAGGAAATCCCAGAG 0.642000 58 62 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400693 89400693 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:89400693C>T uc010upo.1 + 11 5251 c.4877C>T c.(4876-4878)cCc>cTc p.P1626L ACAN_uc010upp.1_Missense_Mutation_p.P1626L|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1626 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGTGGTCTTCCCTCTGGATTT 0.522000 67 39 0 0 1 0 0 KRT34 3885 broad.mit.edu 37 17 39538448 39538448 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:39538448G>A uc002hwm.3 - 0 189 c.177C>T c.(175-177)tcC>tcT p.S59S NM_021013 NP_066293 O76011 KRT34_HUMAN Homo sapiens keratin 34 (KRT34), mRNA. 59 Head. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) AGGGCCGGGAGGAGCAGCTGG 0.622000 30 20 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114299467 114299467 + Missense_Mutation SNP T G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:114299467T>G uc003vhb.3 + 11 1899 c.1525T>G c.(1525-1527)Tat>Gat p.Y509D FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.Y534D|FOXP2_uc003vha.3_Missense_Mutation_p.Y417D|FOXP2_uc011kmv.2_Missense_Mutation_p.Y508D|FOXP2_uc011kmu.2_Missense_Mutation_p.Y526D|FOXP2_uc010ljz.2_Intron|FOXP2_uc003vhe.1_Missense_Mutation_p.Y79D NM_014491 NP_055306 O15409 FOXP2_HUMAN Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA. 509 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 TCCATTTACTTATGCAACTCT 0.299000 112 24 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37546995 37546995 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:37546995G>A uc002xje.3 + 10 1579 c.1390G>A c.(1390-1392)Gac>Aac p.D464N PPP1R16B_uc010ggc.3_Missense_Mutation_p.D422N NM_015568 NP_056383 Q96T49 PP16B_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA. 464 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding p.A463A(1) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) TGGCGTGGCCGACGCCACCCC 0.642000 57 26 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131030734 131030734 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:131030734G>A uc011maw.2 - 2 290 c.277C>T c.(277-279)Cct>Tct p.P93S GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004bul.1_5'UTR|GOLGA2_uc004bum.1_5'UTR NM_004486 NP_004477 Q08379 GOGA2_HUMAN Homo sapiens golgin A2 (GOLGA2), mRNA. 93 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 CTGGCACCAGGGGAAGGGACA 0.562000 24 14 0 0 1 0 0 SH2B3 10019 broad.mit.edu 37 12 111856354 111856354 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:111856354C>T uc001tsf.3 + 0 432 c.405C>T c.(403-405)ttC>ttT p.F135F SH2B3_uc001tse.3_Silent_p.F135F|SH2B3_uc010syf.2_Silent_p.F135F NM_005475 NP_005466 Q9UQQ2 SH2B3_HUMAN Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA. 135 blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 ccTGCTCCTTCCAGCACTTTC 0.806000 10 5 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860187 16860187 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:16860187C>T uc002neu.4 + 5 1156 c.734C>T c.(733-735)cCg>cTg p.P245L NWD1_uc002net.4_Missense_Mutation_p.P110L|NWD1_uc002nev.4_Missense_Mutation_p.P39L|NWD1_uc021uqg.1_Missense_Mutation_p.P110L NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 245 ATP binding p.S245*(2) NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CACCGCCTGCCGTGGAGCCGC 0.602000 31 21 0 0 1 0 0 OTOR 56914 broad.mit.edu 37 20 16729619 16729619 + Nonsense_Mutation SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:16729619G>T uc002wpj.3 + 1 267 c.223G>T c.(223-225)Gaa>Taa p.E75* NM_020157 NP_064542 Q9NRC9 OTOR_HUMAN Homo sapiens otoraplin (OTOR), mRNA. 75 SH3. sensory perception of sound extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 GCTGGTAAAAGAAAATGGAGC 0.393000 20 9 0.00621372 0.00622276 1 1 0 DENND5A 23258 broad.mit.edu 37 11 9172244 9172244 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:9172244G>A uc001mhl.3 - 13 2846 c.2589C>T c.(2587-2589)tcC>tcT p.S863S DENND5A_uc001mhk.3_Silent_p.S206S|DENND5A_uc010rbw.2_Silent_p.S863S|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. 863 RUN 1. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CCTGAATCAGGGAGATCCTCA 0.433000 53 16 0 0 1 0 0 SCTR 6344 broad.mit.edu 37 2 120219473 120219473 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:120219473G>A uc002tma.3 - 6 966 c.740C>T c.(739-741)tCc>tTc p.S247F SCTR_uc002tlz.3_Missense_Mutation_p.S69F NM_002980 NP_002971 P47872 SCTR_HUMAN Homo sapiens secretin receptor (SCTR), mRNA. 247 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) AGAGAAGAAGGAGATGGCGAG 0.537000 54 27 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127327810 127327810 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:127327810G>A uc003ejp.3 + 7 1429 c.1372G>A c.(1372-1374)Gat>Aat p.D458N MCM2_uc011bkm.2_Missense_Mutation_p.D328N|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.D342N NM_004526 NP_004517 P49736 MCM2_HUMAN Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA. 458 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|chromatin ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 GGAACTGACCGATGAAGATGT 0.547000 60 48 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962063 73962063 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:73962063G>A uc004eby.3 - 2 2946 c.2329C>T c.(2329-2331)Cat>Tat p.H777Y NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 777 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTTGCCTCATGAAATTCAGAT 0.388000 19 34 0 0 1 0 0 HOXB2 3212 broad.mit.edu 37 17 46620638 46620638 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:46620638C>T uc002inm.3 - 1 983 c.863G>A c.(862-864)gGg>gAg p.G288E NM_002145 NP_002136 P14652 HXB2_HUMAN Homo sapiens homeobox B2 (HOXB2), mRNA. 288 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TGGCAATGGCCCGGGCTCCAG 0.692000 8 4 0 0 1 0 0 SRL 6345 broad.mit.edu 37 16 4254582 4254582 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:4254582C>T uc002cvz.4 - 1 128 c.115G>A c.(115-117)Gag>Aag p.E39K SRL_uc002cvy.4_Non-coding_Transcript NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN Homo sapiens sarcalumenin (SRL), mRNA. 498 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity p.E39K(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 AGGGTCTTCTCGATGTGGGAG 0.572000 49 29 0 0 1 0 0 FAM86FP 653113 broad.mit.edu 37 12 8384425 8384425 + RNA SNP G A A rs7305109 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:8384425G>A uc010sgk.2 - 4 c.1363C>T Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA. GCTTCTTCTTGGAGTCTCAGG 0.592000 46 11 0 0 1 0 0 C1QTNF3 114899 broad.mit.edu 37 5 34028938 34028938 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:34028938C>T uc003jio.3 - 3 762 c.621G>A c.(619-621)ggG>ggA p.G207G C1QTNF3_uc003jim.3_Silent_p.G14G|C1QTNF3_uc003jin.3_Silent_p.G134G NM_181435 NP_852100 Q9BXJ4 C1QT3_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA. 134 C1q. collagen breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1) 17 all_lung(31;0.0207) TGAAGATAATCCCACTGTTCT 0.403000 29 12 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50605624 50605624 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:50605624C>T uc003tpg.4 - 3 570 c.369G>A c.(367-369)ggG>ggA p.G123G DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Silent_p.G123G|DDC_uc022adb.1_Silent_p.G85G|DDC_uc022adc.1_Silent_p.G123G|DDC_uc022add.1_Silent_p.G123G|DDC_uc022adf.1_Silent_p.G123G|LOC100129427_uc022adg.1_Intron NM_001082971 NP_001076440 P20711 DDC_HUMAN Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA. 123 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding p.G123W(1)|p.L122R(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CCAGCATCTTCCCGAGCCAGT 0.562000 36 14 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101323826 101323826 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:101323826C>T uc001pgk.4 - 12 3081 c.2656G>A c.(2656-2658)Gaa>Aaa p.E886K TRPC6_uc009ywy.3_Missense_Mutation_p.E770K NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 886 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TGCTTAATTTCCTTCAGTTCC 0.398000 37 20 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43716006 43716006 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:43716006C>T uc003bdt.2 - 2 413 c.286G>A c.(286-288)Ggg>Agg p.G96R SCUBE1_uc003bdu.2_Missense_Mutation_p.G96R NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA. 96 EGF-like 2; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CTGTAGTTCCCCGGGATGTTG 0.527000 84 39 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70926307 70926307 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:70926307C>T uc021rvq.1 + 0 2091 c.2091C>T c.(2089-2091)ttC>ttT p.F697F ADAM21_uc001xmd.3_Silent_p.F697F NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA. 697 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TTTTGACTTTCCTGTTTACTG 0.418000 27 19 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46264143 46264143 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:46264143C>T uc002xtk.3 + 10 1451 c.1190C>T c.(1189-1191)tCg>tTg p.S397L NCOA3_uc002xtl.3_Missense_Mutation_p.S397L|NCOA3_uc002xtn.3_Missense_Mutation_p.S397L|NCOA3_uc010ght.2_Missense_Mutation_p.S407L|NCOA3_uc002xtm.3_Missense_Mutation_p.S397L|NCOA3_uc010zyc.2_Missense_Mutation_p.S192L NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA. 397 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TGCAACAGTTCGGTAGGCGGC 0.502000 31 26 0 0 1 0 0 GZMK 3003 broad.mit.edu 37 5 54329647 54329647 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:54329647G>A uc003jpl.1 + 4 732 c.688G>A c.(688-690)Gga>Aga p.G230R NM_002104 NP_002095 P49863 GRAK_HUMAN Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA. 230 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TATAGTCTCTGGAGGTCATGA 0.488000 33 18 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453137 + Missense_Mutation DNP AC TT TT rs121913377 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:140453136_140453137AC>TT uc003vwc.4 - 14 1859_1860 c.1798_1799GT>AA c.(1798-1800)gtg>AAg p.V600K 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.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(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) TCGAGATTTCACTGTAGCTAGA 0.366000 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)|V600M(IGR1_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 46 76 0 0 1 0 0 MAGEB4 4115 broad.mit.edu 37 X 30260934 30260934 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:30260934G>A uc004dcb.3 + 0 878 c.682G>A c.(682-684)Ggg>Agg p.G228R MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA. 228 MAGE. breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 GAATATGCTGGGGATCTATGA 0.478000 7 15 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247751934 247751934 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:247751934C>T uc010pyy.2 + 0 273 c.273C>T c.(271-273)ccC>ccT p.P91P NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGTGGGAACCCATGAAAACTA 0.517000 48 29 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 167021941 167021941 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:167021941C>T uc003irh.2 + 20 3602 c.2955C>T c.(2953-2955)ttC>ttT p.F985F TLL1_uc011cjn.2_Silent_p.F1008F|TLL1_uc011cjo.2_Silent_p.F809F NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 985 CUB 5. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TAATTCATTTCCACACTGATG 0.328000 38 38 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103148906 103148906 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:103148906G>A uc002tbz.4 + 11 2613 c.2156G>A c.(2155-2157)gGa>gAa p.G719E NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 719 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity p.G719E(2) 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 CTACACAGAGGAAGGAAGGCA 0.478000 23 11 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7417270 7417270 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:7417270C>T uc002ghf.4 + 28 6073 c.5687C>T c.(5686-5688)tCc>tTc p.S1896F NM_000937 NP_000928 P24928 RPB1_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA. 1896 52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) cctacttattccccaacctct 0.557000 41 31 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119954470 119954470 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:119954470G>A uc001txe.3 + 7 1391 c.926G>A c.(925-927)aGg>aAg p.R309K AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 309 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GATGCCCGGAGGACAGTCACA 0.473000 35 11 0 0 1 0 0 OR10AD1 121275 broad.mit.edu 37 12 48596291 48596291 + Missense_Mutation SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:48596291T>C uc001rrl.1 - 0 785 c.785A>G c.(784-786)aAc>aGc p.N262S NM_001004134 NP_001004134 Q8NGE0 O10AD_HUMAN Homo sapiens olfactory receptor, family 10, subfamily AD, member 1 (OR10AD1), mRNA. 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1) 9 GCTGTGGGGGTTCATGTAAGA 0.493000 26 9 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70049344 70049344 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:70049344C>T uc001svg.3 - 9 1577 c.1350G>A c.(1348-1350)tgG>tgA p.W450* BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Nonsense_Mutation_p.W237*|BEST3_uc010stm.2_Nonsense_Mutation_p.W344* NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 450 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AGGATTTCTTCCAGGTGGGTG 0.587000 31 16 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18719980 18719980 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:18719980G>A uc001rdt.3 + 27 3993 c.3877G>A c.(3877-3879)Gaa>Aaa p.E1293K PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E1334K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E1112K NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 1293 PX. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TGTATCACATGAAGTTACAAA 0.299000 31 21 0 0 1 0 0 SCIN 85477 broad.mit.edu 37 7 12666399 12666399 + Missense_Mutation SNP T G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:12666399T>G uc003ssn.4 + 7 1382 c.1172T>G c.(1171-1173)gTg>gGg p.V391G SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Missense_Mutation_p.V144G NM_001112706 NP_149119 Q9Y6U3 ADSV_HUMAN Homo sapiens scinderin (SCIN), transcript variant 1, mRNA. 391 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) CACAATATGGTGGATGATGGT 0.433000 9 6 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25266545 25266545 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:25266545G>A uc002dod.4 - 1 975 c.568C>T c.(568-570)Cgg>Tgg p.R190W ZKSCAN2_uc010vcl.2_5'UTR|ZKSCAN2_uc002doe.2_Missense_Mutation_p.R190W NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA. 190 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) GGTAAGGGCCGACGTTCTCGC 0.602000 46 25 0 0 1 0 0 NSUN2 54888 broad.mit.edu 37 5 6623341 6623341 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:6623341G>A uc003jdu.3 - 4 904 c.523C>T c.(523-525)Cgg>Tgg p.R175W NSUN2_uc003jdt.3_5'Flank|NSUN2_uc011cmk.2_Missense_Mutation_p.R140W|NSUN2_uc003jdv.3_5'UTR NM_017755 NP_060225 Q08J23 NSUN2_HUMAN Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA. 175 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 TGATGAGGCCGCACGTTGAGG 0.408000 81 3 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50555621 50555621 + Missense_Mutation SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:50555621G>T uc003bjj.3 + 8 1378 c.1295G>T c.(1294-1296)tGt>tTt p.C432F MOV10L1_uc003bjk.4_Missense_Mutation_p.C432F|MOV10L1_uc011arp.2_Missense_Mutation_p.C412F|MOV10L1_uc011arq.1_Missense_Mutation_p.C193F|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. 432 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding 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) CTTTTGCTCTGTTTTTCCGAT 0.388000 79 21 0.00127121 0.00127368 1 1 0 ZNF441 126068 broad.mit.edu 37 19 11891225 11891225 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:11891225C>T uc010dyj.3 + 3 780 c.586C>T c.(586-588)Cgt>Tgt p.R196C ZNF441_uc002msn.4_Missense_Mutation_p.R152C NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN Homo sapiens zinc finger protein 441 (ZNF441), mRNA. 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGATGGACCTCGTATATGTAA 0.398000 57 23 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40102429 40102429 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:40102429C>T uc003thh.4 + 7 2887 c.2605C>T c.(2605-2607)Ccg>Tcg p.P869S CDK13_uc003thi.4_Missense_Mutation_p.P869S|CDK13_uc011kbf.2_Missense_Mutation_p.P255S|CDK13_uc003thj.3_5'UTR NM_003718 NP_003709 Q14004 CDK13_HUMAN Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA. 869 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding p.R868W(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 TTTTAGTCGGCCGTATACTAA 0.383000 247 104 0 0 1 0 0 DDOST 1650 broad.mit.edu 37 1 20981986 20981986 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:20981986G>A uc001bdo.1 - 4 692 c.549C>T c.(547-549)gcC>gcT p.A183A DDOST_uc010odd.1_5'UTR|DDOST_uc010ode.1_Silent_p.A146A NM_005216 NP_005207 P39656 OST48_HUMAN Homo sapiens dolichyl-diphosphooligosaccharide--protein glycosyltransferase (DDOST), mRNA. 183 T cell activation|innate immune response|post-translational protein modification|response to cytokine stimulus integral to membrane|microsome|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1) 13 all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CGATGGTTGGGGCCTTCAGCA 0.532000 44 27 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107847068 107847068 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:107847068C>T uc003hyi.3 - 1 966 c.261G>A c.(259-261)ggG>ggA p.G87G DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Silent_p.G87G NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA. 87 DKK-type Cys-1. Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GGCAATACCTCCCAACTTCAC 0.502000 42 17 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240071048 240071048 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:240071048G>A uc021plc.1 + 0 297 c.297G>A c.(295-297)ctG>ctA p.L99L CHRM3_uc001hyp.3_Silent_p.L99L NM_000740 NP_000731 P20309 ACM3_HUMAN Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA. 99 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) ACAAGCAGCTGAAGACGGTCA 0.468000 21 12 0 0 1 0 0 BLK 640 broad.mit.edu 37 8 11400788 11400788 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:11400788G>A uc003wty.3 + 1 636 c.55G>A c.(55-57)Gac>Aac p.D19N NM_001715 NP_001706 P51451 BLK_HUMAN Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA. 19 intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CAAAGAGAAGGACAAGGGCCA 0.607000 10 15 0 0 1 0 0 TMEM43 79188 broad.mit.edu 37 3 14174406 14174406 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:14174406C>T uc003byk.2 + 5 737 c.483C>T c.(481-483)ttC>ttT p.F161F TMEM43_uc003byl.1_Silent_p.F41F NM_024334 NP_077310 Q9BTV4 TMM43_HUMAN Homo sapiens transmembrane protein 43 (TMEM43), mRNA. 161 Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2) 19 GCAAAAACTTCGACCGAGAGA 0.547000 49 28 0 0 1 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967226 142967226 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:142967226C>T uc004fca.3 + 0 54 c.24C>T c.(22-24)atC>atT p.I8I NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA. 8 acid-amino acid ligase activity breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) CCCACAGGATCATCAAGGAAA 0.458000 13 34 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27475767 27475767 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:27475767G>A uc002dov.2 - 33 5786 c.5746C>T c.(5746-5748)Ctt>Ttt p.L1916F GTF3C1_uc002dou.3_Missense_Mutation_p.L1916F NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 1916 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GTGTCTTCAAGAGCTGGGGGT 0.652000 83 30 0 0 1 0 0 IL5RA 3568 broad.mit.edu 37 3 3143430 3143430 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:3143430C>T uc011ask.2 - 5 957 c.313G>A c.(313-315)Gac>Aac p.D105N IL5RA_uc010hbq.3_Missense_Mutation_p.D105N|IL5RA_uc010hbr.3_Missense_Mutation_p.D105N|IL5RA_uc010hbs.3_Missense_Mutation_p.D105N|IL5RA_uc011asl.2_Missense_Mutation_p.D105N|IL5RA_uc011asm.1_Missense_Mutation_p.D105N|IL5RA_uc010hbt.2_Missense_Mutation_p.D105N|IL5RA_uc011asn.1_Missense_Mutation_p.D105N|IL5RA_uc010hbu.2_Missense_Mutation_p.D105N NM_000564 NP_783853 Q01344 IL5RA_HUMAN Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA. 105 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity p.D105N(2) cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) AGTGAGTGGTCGTTCTGCAGG 0.473000 35 24 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53779725 53779725 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:53779725C>T uc003dgv.4 + 23 3244 c.3081C>T c.(3079-3081)ttC>ttT p.F1027F CACNA1D_uc003dgu.4_Silent_p.F1047F|CACNA1D_uc003dgy.4_Silent_p.F1027F|CACNA1D_uc003dgw.4_Silent_p.F694F|CACNA1D_uc003dgx.1_Silent_p.F175F NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 1027 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TCCTGCAGTTCATGTTTGCCT 0.537000 48 29 0 0 1 0 0 ALAS2 212 broad.mit.edu 37 X 55047556 55047556 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:55047556C>T uc004dua.4 - 4 705 c.567G>A c.(565-567)aaG>aaA p.K189K ALAS2_uc004dub.4_Silent_p.K176K|ALAS2_uc004dud.4_Silent_p.K152K NM_000032 NP_000023 P22557 HEM0_HUMAN Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 189 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) CGGACACATCCTTTGAGGCCA 0.517000 11 22 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34003913 34003913 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:34003913G>A uc003oir.4 - 7 2337 c.1974C>T c.(1972-1974)ttC>ttT p.F658F GRM4_uc011dsn.2_Silent_p.F611F|GRM4_uc010jvh.3_Silent_p.F658F|GRM4_uc010jvi.3_Silent_p.F350F|GRM4_uc003oio.3_Silent_p.F350F|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.F518F|GRM4_uc003oiq.3_Silent_p.F525F|GRM4_uc011dsm.2_Silent_p.F489F NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 658 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.I657M(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CTAGTCCCAGGAAGATTCGGC 0.607000 93 17 0 0 1 0 0 PES1 23481 broad.mit.edu 37 22 30985180 30985180 + Silent SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:30985180A>G uc003aij.2 - 1 209 c.102T>C c.(100-102)ttT>ttC p.F34F PES1_uc003aik.2_Silent_p.F34F|PES1_uc003aio.1_5'UTR|PES1_uc003ain.1_5'UTR NM_014303 NP_055118 O00541 PESC_HUMAN Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA. 34 Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 ATATTCACCTAAAGTCAGCCA 0.517000 25 5 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55595364 55595364 + Missense_Mutation SNP A C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:55595364A>C uc001nhy.1 + 0 670 c.670A>C c.(670-672)Act>Cct p.T224P NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA. 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T223A(1) breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) AATTCTCACCACTATCCTGAA 0.488000 HNSCC(27;0.073) 105 43 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2349414 2349414 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:2349414G>A uc002cpy.1 - 13 2443 c.1731C>T c.(1729-1731)tcC>tcT p.S577S ABCA3_uc010bsk.1_Silent_p.S519S|ABCA3_uc010bsl.1_Silent_p.S577S NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 577 ABC transporter 1. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CTGTGAGCATGGAGAGGGTGG 0.662000 30 22 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:29628283G>C uc010ztl.1 + 2 227 c.195G>C c.(193-195)ggG>ggC p.G65G FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Silent_p.G17G Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.G95G(4)|p.I64T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 138 5 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79679607 79679607 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:79679607C>T uc001sys.3 + 5 878 c.207C>T c.(205-207)gtC>gtT p.V69V SYT1_uc001syt.3_Silent_p.V69V|SYT1_uc001syu.3_Silent_p.V69V|SYT1_uc001syv.3_Silent_p.V69V NM_001135805 NP_005630 P21579 SYT1_HUMAN Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA. 69 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 TAGTCGCAGTCCTTTTAGTCC 0.398000 44 23 0 0 1 0 0 RAB21 23011 broad.mit.edu 37 12 72175847 72175847 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:72175847C>T uc001swt.3 + 4 680 c.428C>T c.(427-429)tCc>tTc p.S143F NM_014999 NP_055814 Q9UL25 RAB21_HUMAN Homo sapiens RAB21, member RAS oncogene family (RAB21), mRNA. 143 protein transport|small GTPase mediated signal transduction Golgi membrane|cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane GDP binding|GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1) 6 AGACATGTTTCCATTCAAGAA 0.323000 51 35 0 0 1 0 0 BVES 11149 broad.mit.edu 37 6 105577343 105577343 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:105577343G>A uc003pqw.3 - 2 419 c.262C>T c.(262-264)Cga>Tga p.R88* BVES_uc003pqx.3_Nonsense_Mutation_p.R88*|BVES_uc003pqy.3_Nonsense_Mutation_p.R88* NM_147147 NP_671488 Q8NE79 POPD1_HUMAN Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA. 88 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) AAGGCACATCGGTAGAGAGTG 0.393000 48 5 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88769382 88769382 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:88769382C>T uc001kee.2 + 11 2577 c.1373C>T c.(1372-1374)gCc>gTc p.A458V AGAP11_uc001kef.3_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA. 458 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CTGCTGCGGGCCACCGCTGAT 0.627000 98 67 0 0 1 0 0 CARD18 59082 broad.mit.edu 37 11 105009551 105009551 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:105009551C>T uc021qpy.1 - 1 270 c.262G>A c.(262-264)Ggt>Agt p.G88S NM_021571 NP_067546 P57730 CAR18_HUMAN Homo sapiens caspase recruitment domain family, member 18 (CARD18), mRNA. 88 CARD. inflammatory response|regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity central_nervous_system(1)|ovary(1) 2 TAGTGCAAACCCATCTTTGAG 0.403000 144 46 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146328 156146328 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:156146328C>T uc001fnl.3 + 14 2005 c.1826C>T c.(1825-1827)tCc>tTc p.S609F SEMA4A_uc009wrq.3_Missense_Mutation_p.S609F|SEMA4A_uc001fnm.3_Missense_Mutation_p.S609F|SEMA4A_uc001fnn.3_Missense_Mutation_p.S477F|SEMA4A_uc001fno.3_Missense_Mutation_p.S609F NM_001193301 NP_071762 Q9H3S1 SEM4A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA. 609 Ig-like C2-type. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) TACAATGGCTCCCTCTTGCTG 0.562000 40 16 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7681727 7681727 + Silent SNP C T T rs138204204 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:7681727C>T uc002giu.1 + 33 5495 c.5481C>T c.(5479-5481)gtC>gtT p.V1827V NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1827 AAA 1 (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) TCATTGTGGTCAACTGCTCTG 0.597000 23 10 0 0 1 0 0 NR3C2 4306 broad.mit.edu 37 4 149357343 149357343 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:149357343G>A uc003ilj.4 - 1 1033 c.670C>T c.(670-672)Cca>Tca p.P224S NR3C2_uc003ilk.4_Missense_Mutation_p.P224S|NR3C2_uc010iph.3_Non-coding_Transcript NM_000901 NP_000892 P08235 MCR_HUMAN Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA. 224 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) CTGTGCACTGGAAAACTGCCA 0.542000 11 13 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48698086 48698086 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:48698086G>A uc001crn.2 + 8 1072 c.1020G>A c.(1018-1020)aaG>aaA p.K340K SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Silent_p.K315K|SLC5A9_uc010omt.1_Silent_p.K329K|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR NM_001135181 NP_001128653 Q2M3M2 SC5A9_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA. 315 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 CTCATGCCAAGGGAGGCTCCG 0.577000 29 10 0 0 1 0 0 MESP2 145873 broad.mit.edu 37 15 90320308 90320308 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:90320308C>T uc002bon.3 + 0 720 c.720C>T c.(718-720)gtC>gtT p.V240V MESP2_uc010uqa.2_Intron NM_001039958 NP_001035047 Q0VG99 MESP2_HUMAN Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA. 240 Notch signaling pathway nucleus DNA binding p.G239R(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) GGAGGGGGGTCCACGACACGG 0.711000 5 6 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147114198 147114198 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:147114198G>A uc011bno.2 - 2 465 c.279C>T c.(277-279)ttC>ttT p.F93F ZIC4_uc003ewc.2_5'UTR|ZIC4_uc021xff.1_Silent_p.F81F|ZIC4_uc003ewd.2_Silent_p.F43F|ZIC4_uc021xfg.1_Intron NM_001168378 NP_115529 Q8N9L1 ZIC4_HUMAN Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA. 43 Poly-Ala. nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GGAGGCCCGGGAACACCGAGG 0.672000 23 10 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182451 57182451 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:57182451C>T uc003hbk.2 + 7 3174 c.2783C>T c.(2782-2784)tCt>tTt p.S928F KIAA1211_uc010iha.2_Missense_Mutation_p.S921F|KIAA1211_uc011bzz.1_Missense_Mutation_p.S838F|KIAA1211_uc003hbm.1_Missense_Mutation_p.S814F NM_020722 NP_065773 Q6ZU35 K1211_HUMAN Homo sapiens KIAA1211 (KIAA1211), mRNA. 928 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AGCAGCCGCTCTGTTCCTGTG 0.647000 18 11 0 0 1 0 0 WT1 7490 broad.mit.edu 37 11 32413596 32413596 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:32413596G>A uc001mtn.2 - 8 1544 c.1354C>T c.(1354-1356)Cag>Tag p.Q452* WT1_uc001mtl.2_Nonsense_Mutation_p.Q240*|WT1_uc001mtm.2_Nonsense_Mutation_p.Q223*|WT1_uc001mto.2_Nonsense_Mutation_p.Q452*|WT1_uc001mtq.2_Nonsense_Mutation_p.Q435*|WT1_uc009yjs.2_Non-coding_Transcript NM_024426 NP_077744 P19544 WT1_HUMAN Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA. 384 RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V380_S410del(1) EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) GTTTTACACTGGAATGGTTTC 0.512000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 94 69 0 0 1 0 0 C10orf113 387638 broad.mit.edu 37 10 21414932 21414932 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:21414932G>A uc001iqm.3 - 1 339 c.288C>T c.(286-288)ttC>ttT p.F96F NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR NM_001010896 NP_001010896 Q5VZT2 CJ113_HUMAN Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA. 96 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 TGTAGAGACTGAAGCTGACTC 0.607000 25 13 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87145973 87145973 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:87145973G>A uc003uiz.2 - 24 3429 c.2936C>T c.(2935-2937)tCa>tTa p.S979L ABCB1_uc011khc.2_Missense_Mutation_p.S915L NM_000927 NP_000918 P08183 MDR1_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA. 979 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GACAACAGCTGAAAATACTCT 0.403000 32 14 0 0 1 0 0 OR4M2 390538 broad.mit.edu 37 15 22368697 22368697 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:22368697G>A uc010tzu.2 + 0 220 c.122G>A c.(121-123)gGa>gAa p.G41E abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATCCTACCAGGAAATATCCTT 0.413000 412 92 0 0 1 0 0 MVK 4598 broad.mit.edu 37 12 110017717 110017717 + Missense_Mutation SNP C T T rs104895370 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:110017717C>T uc001toy.4 + 3 521 c.337C>T c.(337-339)Ctt>Ttt p.L113F MVK_uc009zvk.3_Missense_Mutation_p.L113F|MVK_uc010sxr.2_Missense_Mutation_p.L113F|MVK_uc001toz.4_Intron|MVK_uc021rdo.1_Missense_Mutation_p.L113F|MVK_uc001tpc.4_Non-coding_Transcript NM_001114185 NP_001107657 Q03426 KIME_HUMAN Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA. 113 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 GCTGGCCTTTCTTTACTTATA 0.547000 26 13 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70924520 70924520 + Missense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:70924520C>G uc021rvq.1 + 0 304 c.304C>G c.(304-306)Cag>Gag p.Q102E ADAM21_uc001xmd.3_Missense_Mutation_p.Q102E NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA. 102 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CCTGGAGGATCAGCTCTTCAT 0.507000 108 14 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22155674 22155674 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:22155674A>G uc010vbq.2 + 25 2795 c.2699A>G c.(2698-2700)cAc>cGc p.H900R VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_5'UTR|VWA3A_uc010bxe.1_5'Flank NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA. 900 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) TCCGCCAAACACTGCAGCATC 0.468000 30 9 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89390960 89390960 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:89390960C>T uc003dqy.3 + 4 1251 c.1026C>T c.(1024-1026)atC>atT p.I342I EPHA3_uc003dqx.1_Silent_p.I342I|EPHA3_uc021xbf.1_Silent_p.I342I NM_005233 NP_005224 P29320 EPHA3_HUMAN Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA. 342 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CCTCAGTTATCCTGGACTGGA 0.413000 TSP Lung(6;0.00050) 43 27 0 0 1 0 0 ZBTB46 140685 broad.mit.edu 37 20 62378384 62378384 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:62378384G>A uc002ygv.2 - 4 1870 c.1669C>T c.(1669-1671)Cct>Tct p.P557S ZBTB46_uc002ygu.3_Non-coding_Transcript NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA. 557 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GCATCCTCAGGGGCCAGGCCC 0.697000 25 13 0 0 1 0 0 ZNF619 285267 broad.mit.edu 37 3 40529414 40529414 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:40529414C>T uc011azb.2 + 5 1840 c.1533C>T c.(1531-1533)ttC>ttT p.F511F ZNF619_uc011aza.2_Silent_p.F413F|ZNF619_uc011azc.2_Silent_p.F471F|ZNF619_uc011azd.2_Silent_p.F427F|ZNF619_uc003ckj.3_Silent_p.F455F|ZNF619_uc021wwh.1_Silent_p.F462F NM_001145082 NP_001138554 E9PCD9 E9PCD9_HUMAN Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA. 511 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) ATGCAAGTTTCATCCAGCATC 0.498000 29 21 0 0 1 0 0 TNFRSF8 943 broad.mit.edu 37 1 12144549 12144549 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:12144549G>A uc001atq.3 + 1 314 c.92G>A c.(91-93)gGa>gAa p.G31E TNFRSF8_uc010obc.2_Intron NM_001243 NP_001234 P28908 TNR8_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA. 31 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) ACCTGTCATGGAAACCCCAGC 0.592000 89 51 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124283811 124283811 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:124283811G>A uc001uft.4 + 12 1853 c.1828G>A c.(1828-1830)Gaa>Aaa p.E610K DNAH10_uc010tav.1_Missense_Mutation_p.E152K|DNAH10_uc010taw.1_Missense_Mutation_p.E95K NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 610 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity 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) AAAATATTTGGAAGTAGGTAG 0.388000 26 21 0 0 1 0 0 MLKL 197259 broad.mit.edu 37 16 74729434 74729434 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:74729434C>T uc002fdb.2 - 1 663 c.222G>A c.(220-222)ggG>ggA p.G74G MLKL_uc002fdc.2_Silent_p.G74G NM_152649 NP_689862 Q8NB16 MLKL_HUMAN Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA. 74 ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TTTCTATCTCCCCATTAGCCT 0.498000 53 32 0 0 1 0 0 CD5 921 broad.mit.edu 37 11 60893271 60893271 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:60893271C>T uc009ynk.3 + 9 1551 c.1448C>T c.(1447-1449)tCc>tTc p.S483F NM_014207 NP_055022 P06127 CD5_HUMAN Homo sapiens CD5 molecule (CD5), mRNA. 483 cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) GACAACTCCTCCGACAGTGAC 0.607000 41 13 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28576965 28576965 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:28576965C>T uc002kwj.4 - 14 2440 c.2285G>A c.(2284-2286)gGt>gAt p.G762D DSC3_uc002kwi.4_Missense_Mutation_p.G762D NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 762 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) ACCACAAAAACCTTGGCTAGA 0.413000 59 10 0 0 1 0 0 LY86 9450 broad.mit.edu 37 6 6626600 6626600 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:6626600C>T uc003mwy.1 + 2 332 c.298C>T c.(298-300)Ccc>Tcc p.P100S NM_004271 NP_004262 O95711 LY86_HUMAN Homo sapiens lymphocyte antigen 86 (LY86), mRNA. 100 apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response extracellular space|plasma membrane large_intestine(2)|lung(6) 8 Ovarian(93;0.0377) TTTCTCCTATCCCATCTGTGA 0.483000 63 14 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120270644 120270644 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:120270644G>A uc001txj.2 - 6 740 c.684C>T c.(682-684)ctC>ctT p.L228L CIT_uc001txi.2_Silent_p.L228L NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 228 Protein kinase. intracellular signal transduction ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TGCGGTCAACGAGAATGTTCT 0.418000 69 54 0 0 1 0 0 MYBPC3 4607 broad.mit.edu 37 11 47364270 47364271 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:47364270_47364271GG>AA uc021qis.1 - 16 1537_1538 c.1482_1483CC>TT c.(1480-1485)acccgg>acTTgg p.R495W MYBPC3_uc021qir.1_Missense_Mutation_p.R147W|MYBPC3_uc010rhl.2_Non-coding_Transcript NM_000256 NP_000247 Q14896 MYPC3_HUMAN Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. 494 Ig-like C2-type 3. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GTCTCCTCCCGGGTCAGCTCCA 0.624000 71 44 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32621534 32621534 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:32621534C>T uc003xiv.2 + 11 2054 c.1537C>T c.(1537-1539)Cct>Tct p.P513S NRG1_uc022ats.1_Missense_Mutation_p.P463S|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.P518S|NRG1_uc003xiw.2_Missense_Mutation_p.P510S|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.P255S|NRG1_uc010lvs.2_Missense_Mutation_p.P255S|NRG1_uc010lvp.2_Missense_Mutation_p.P467S|NRG1_uc010lvq.2_Missense_Mutation_p.P443S|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.P356S|NRG1_uc003xja.2_Missense_Mutation_p.P324S NM_013964 NP_039258 Q02297 NRG1_HUMAN Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA. 513 Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TAACAGCCTCCCTGCTAGCCC 0.562000 20 14 0 0 1 0 0 EREG 2069 broad.mit.edu 37 4 75246812 75246812 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:75246812G>A uc003hie.1 + 2 402 c.236G>A c.(235-237)gGa>gAa p.G79E EREG_uc003hid.3_Missense_Mutation_p.G73E NM_001432 NP_001423 O14944 EREG_HUMAN Homo sapiens epiregulin (EREG), mRNA. 79 EGF-like. angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of DNA replication|positive regulation of cell division|positive regulation of cytokine production|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing extracellular space|integral to plasma membrane epidermal growth factor receptor binding|growth factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 Lung(101;0.196) TGTTTGCATGGACAGTGCATC 0.373000 103 52 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263037 248263037 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:248263037C>T uc001ids.3 + 2 697 c.360C>T c.(358-360)gaC>gaT p.D120D OR2L13_uc021pmc.1_Silent_p.D120D NM_175911 NP_787107 Q8N349 OR2LD_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA. 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.Y119Y(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TGGCCTACGACCGTTATTTGG 0.502000 127 72 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23873577 23873577 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:23873577G>A uc001wjv.3 - 7 734 c.663C>T c.(661-663)atC>atT p.I221I MYH6_uc010akp.2_Silent_p.I221I NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 221 Myosin head-like. 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 p.I221I(2) 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) TGGCCTGGATGATCTGGTCCT 0.612000 77 44 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106829745 106829745 + RNA SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:106829745C>T uc021ser.1 - 518 c.15158G>A abParts_uc001ysx.1_Non-coding_Transcript Parts of antibodies, mostly variable regions. TTCCCCAATCCACTCCAGCCC 0.562000 54 24 0 0 1 0 0 IMPDH1 3614 broad.mit.edu 37 7 128034608 128034608 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:128034608G>A uc011kol.1 - 11 1447 c.1341C>T c.(1339-1341)atC>atT p.I447I IMPDH1_uc011kom.1_Silent_p.I442I|IMPDH1_uc003vmt.2_Silent_p.I422I|IMPDH1_uc003vmu.2_Silent_p.I532I|IMPDH1_uc003vmx.2_Silent_p.I455I|IMPDH1_uc003vmy.2_Silent_p.I463I|IMPDH1_uc003vmw.2_Silent_p.I522I|IMPDH1_uc011kon.1_Silent_p.I499I|IMPDH1_uc003vmv.2_Silent_p.I496I|DQ595173_uc022ala.1_5'Flank NM_001142573 NP_001136045 P20839 IMDH1_HUMAN Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA. 447 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) CTTTGTCCTGGATGGAGCCCG 0.602000 62 108 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100206089 100206089 + Splice_Site SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:100206089C>T uc001tge.2 - 3 633 c.216_splice c.e3-1 p.K72_splice ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Splice_Site_p.K72_splice NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 72 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GAACTATGTCCCTAAAAAGGA 0.373000 25 18 0 0 1 0 0 CXADRP2 646243 broad.mit.edu 37 15 22016386 22016386 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:22016386G>A uc010tzk.1 - 0 493 c.331C>T c.(331-333)Ctt>Ttt p.L111F Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA. GGCTTACCAAGAACTACCAGC 0.373000 98 8 0 0 1 0 0 C3orf15 89876 broad.mit.edu 37 3 119445136 119445136 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:119445136G>A uc003ede.4 + 6 878 c.801G>A c.(799-801)agG>agA p.R267R C3orf15_uc010hqy.2_Silent_p.R267R|C3orf15_uc010hqz.3_Silent_p.R205R|C3orf15_uc011bjd.2_Silent_p.R141R|C3orf15_uc011bje.2_Silent_p.R247R|C3orf15_uc010hra.2_Silent_p.R28R NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA. 267 mitochondrion protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.186) AGAAGAGGAGGAAAATGATGA 0.517000 20 14 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35247658 35247658 + Splice_Site SNP A C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:35247658A>C uc002yta.1 + 34 4442 c.4174_splice c.e34-1 p.I1392_splice DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Splice_Site_p.I1387_splice|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_Splice_Site|ITSN1_uc010gmn.1_Splice_Site|ITSN1_uc002ytk.1_Splice_Site NM_003024 NP_003015 Q15811 ITSN1_HUMAN Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA. 1392 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|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TCCTGTGTAGATCCTGGAAAA 0.592000 30 24 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110819866 110819866 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:110819866G>A uc003kpf.3 + 10 1359 c.1124G>A c.(1123-1125)gGa>gAa p.G375E CAMK4_uc010jbv.3_Missense_Mutation_p.G178E|CAMK4_uc003kpg.3_Missense_Mutation_p.G66E NM_001744 NP_001735 Q16566 KCC4_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA. 375 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) ATTCCAGAAGGAGAGAAAATT 0.532000 42 25 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519565 113519565 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:113519565C>T uc010ljy.1 - 3 1613 c.1582G>A c.(1582-1584)Gaa>Aaa p.E528K NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 528 glycogen metabolic process integral to membrane 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 CTTTGTTTTTCATTAACACCT 0.348000 6 9 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172766766 172766766 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:172766766G>A uc003fin.4 - 2 915 c.731C>T c.(730-732)cCa>cTa p.P244L NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA. 244 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GGCAAGATCTGGTTTCCTCAT 0.428000 65 26 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16902874 16902874 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:16902874G>A uc009vos.1 - 18 2895 c.2007C>T c.(2005-2007)ctC>ctT p.L669L NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Silent_p.L127L|NBPF1_uc010oce.1_Silent_p.L398L NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 669 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GGAGGGCCTGGAGATGCTGAT 0.547000 528 30 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111082242 111082242 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:111082242G>A uc001vqx.3 + 7 777 c.488G>A c.(487-489)gGa>gAa p.G163E NM_001846 NP_001837 P08572 CO4A2_HUMAN Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA. 163 angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGGCCCCAAGGACCAAAAGGG 0.453000 32 13 0 0 1 0 0 RNF180 285671 broad.mit.edu 37 5 63509470 63509470 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:63509470C>T uc003jti.3 + 3 427 c.317C>T c.(316-318)tCc>tTc p.S106F RNF180_uc003jth.4_Missense_Mutation_p.S106F|RNF180_uc010iws.3_Intron NM_001113561 NP_001107033 Q86T96 RN180_HUMAN Homo sapiens ring finger protein 180 (RNF180), transcript variant 1, mRNA. 106 integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) CCAAAATGTTCCTGTGGCCAG 0.478000 128 74 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133789947 133789947 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:133789947G>A uc001qgx.4 - 17 3904 c.3673C>T c.(3673-3675)Cgc>Tgc p.R1225C NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 1225 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) AGGCCCGGGCGAGGCCGGGCA 0.677000 22 9 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193376716 193376716 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:193376716C>T uc003ftg.3 + 23 2606 c.2372C>T c.(2371-2373)tCt>tTt p.S791F OPA1_uc003fth.3_Missense_Mutation_p.S755F|OPA1_uc003fti.3_Missense_Mutation_p.S773F|OPA1_uc003ftj.3_Missense_Mutation_p.S754F|OPA1_uc003ftk.3_Missense_Mutation_p.S737F|OPA1_uc003ftl.3_Missense_Mutation_p.S718F|OPA1_uc003ftm.3_Missense_Mutation_p.S736F|OPA1_uc003ftn.3_Missense_Mutation_p.S700F NM_130837 NP_570850 O60313 OPA1_HUMAN Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA. 736 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) CGATCCATATCTGATAAACAG 0.388000 49 25 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17699264 17699264 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:17699264C>T uc002rcl.1 - 0 443 c.419G>A c.(418-420)aGa>aAa p.R140K RAD51AP2_uc010exn.1_Missense_Mutation_p.R131K NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA. 140 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GAAAGCCTCTCTGTCATGCAG 0.483000 38 18 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198685852 198685852 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:198685852G>A uc001gur.1 + 12 1507 c.1327G>A c.(1327-1329)Gat>Aat p.D443N PTPRC_uc001gut.1_Missense_Mutation_p.D282N|PTPRC_uc009wzf.1_Missense_Mutation_p.D331N|PTPRC_uc021pgy.1_Missense_Mutation_p.D397N|PTPRC_uc010ppg.1_Missense_Mutation_p.D379N NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 443 Fibronectin type-III 1. B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GATCAAATATGATTTGCAAAA 0.318000 16 20 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115812134 115812134 + Missense_Mutation SNP G A A rs142182003 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:115812134G>A uc011lwz.1 - 1 224 c.196C>T c.(196-198)Cct>Tct p.P66S ZFP37_uc004bgm.1_Missense_Mutation_p.P51S|ZFP37_uc011lxa.1_Missense_Mutation_p.P52S NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA. 51 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTCTGAGCAGGATCCAGTTGC 0.413000 46 27 0 0 1 0 0 RBM11 54033 broad.mit.edu 37 21 15592017 15592017 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:15592017G>A uc002yjo.4 + 1 272 c.230G>A c.(229-231)gGa>gAa p.G77E RBM11_uc002yjn.4_5'UTR|RBM11_uc002yjp.4_Intron NM_144770 NP_658983 P57052 RBM11_HUMAN Homo sapiens RNA binding motif protein 11 (RBM11), mRNA. 77 RRM. RNA binding|nucleotide binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) CGTTTATATGGAAGACCAATT 0.388000 16 11 0 0 1 0 0 TEAD4 7004 broad.mit.edu 37 12 3129908 3129908 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:3129908C>T uc010sej.2 + 8 984 c.692C>T c.(691-693)gCc>gTc p.A231V TEAD4_uc010sek.2_Missense_Mutation_p.A188V|TEAD4_uc001qln.3_Missense_Mutation_p.A102V NM_201443 NP_958851 Q15561 TEAD4_HUMAN Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA. 231 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) GAGTTCTCTGCCTTCCTGGAG 0.682000 34 23 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44840909 44840909 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:44840909G>A uc002zdf.2 - 6 856 c.729C>T c.(727-729)atC>atT p.I243I NM_173354 NP_775490 P57059 SIK1_HUMAN Homo sapiens salt-inducible kinase 1 (SIK1), mRNA. 243 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 TGAAGAAGGGGATGCGGAAGC 0.632000 11 6 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26881493 26881493 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:26881493C>T uc003jgs.1 - 11 2291 c.2122G>A c.(2122-2124)Gaa>Aaa p.E708K CDH9_uc011cnv.1_Missense_Mutation_p.E301K NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. 708 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TCAATATTTTCCCACAGAGGC 0.418000 39 28 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212286826 212286826 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:212286826C>T uc002veg.1 - 23 2968 c.2870G>A c.(2869-2871)tGg>tAg p.W957* ERBB4_uc002veh.1_Nonsense_Mutation_p.W957*|ERBB4_uc010zji.1_Nonsense_Mutation_p.W947*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.W947* NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 957 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATCAATCATCCAACCTGGAAA 0.353000 TSP Lung(8;0.080) 30 9 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23894149 23894149 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:23894149G>A uc001wjx.3 - 21 2614 c.2508C>T c.(2506-2508)atC>atT p.I836I NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 836 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCAGCGGCTTGATCTTGAAGT 0.557000 54 22 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57176461 57176461 + Nonsense_Mutation SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:57176461C>A uc010ygn.2 - 1 333 c.106G>T c.(106-108)Gag>Tag p.E36* NM_001005850 NP_001005850 Homo sapiens zinc finger protein 835 (ZNF835), mRNA. endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GCCTCTGGCTCTGGACAGCTT 0.602000 33 14 5.35267e-07 5.3892e-07 1 1 0 GPR98 84059 broad.mit.edu 37 5 89990161 89990161 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:89990161G>A uc003kju.3 + 32 7684 c.7588G>A c.(7588-7590)Gat>Aat p.D2530N GPR98_uc003kjt.3_Missense_Mutation_p.D236N|GPR98_uc003kjv.3_Missense_Mutation_p.D130N NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2530 Calx-beta 17. 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) TCTTCCTGATGATTTCCCAGA 0.453000 42 23 0 0 1 0 0 TOMM22 56993 broad.mit.edu 37 22 39078419 39078419 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:39078419C>T uc003awe.3 + 1 239 c.209C>T c.(208-210)tCc>tTc p.S70F BC036921_uc003awd.3_5'Flank NM_020243 NP_064628 Q9NS69 TOM22_HUMAN Homo sapiens translocase of outer mitochondrial membrane 22 homolog (yeast) (TOMM22), nuclear gene encoding mitochondrial protein, mRNA. 70 protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity|receptor activity large_intestine(1)|lung(2) 3 Melanoma(58;0.04) TTTGATCTTTCCCTCTTTGTG 0.567000 100 30 0 0 1 0 0 HOOK2 29911 broad.mit.edu 37 19 12876772 12876772 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:12876772G>A uc002muy.2 - 15 1739 c.1568C>T c.(1567-1569)gCc>gTc p.A523V HOOK2_uc002muz.2_Missense_Mutation_p.A523V NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA. 523 Sufficient for interaction with microtubules. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport FHF complex|centrosome|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 CTCCTGCAGGGCTTTCTGCAG 0.652000 OREG0025273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 20 0 0 1 0 0 FAM113B 91523 broad.mit.edu 37 12 47628852 47628852 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:47628852C>T uc001rpq.3 + 1 531 c.6C>T c.(4-6)atC>atT p.I2I FAM113B_uc001rpn.3_Silent_p.I2I|FAM113B_uc021qxi.1_Silent_p.I2I NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 2 hydrolase activity NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) GCGTCATGATCCTTCTGCGGG 0.592000 26 15 0 0 1 0 0 OR51B6 390058 broad.mit.edu 37 11 5373490 5373490 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:5373490C>T uc010qzb.2 + 0 753 c.753C>T c.(751-753)gtC>gtT p.V251V HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA. 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTCTATGTCACTGTAGTTT 0.443000 91 46 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57587368 57587368 + Missense_Mutation SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:57587368G>C uc001snd.3 + 46 8170 c.7704G>C c.(7702-7704)aaG>aaC p.K2568N MIR1228_uc021qzh.1_5'Flank NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 2568 LDL-receptor class A 12. aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCTGCAAGAAGACTTTCCGGC 0.607000 38 3 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67066540 67066540 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:67066540G>A uc003xvv.3 + 8 1721 c.1495G>A c.(1495-1497)Gaa>Aaa p.E499K TRIM55_uc003xvu.3_Missense_Mutation_p.E499K|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 499 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GAGTGGTAAGGAAACTAGTGC 0.562000 24 63 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129511477 129511477 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:129511477G>A uc021zfb.1 + 10 1700 c.1595G>A c.(1594-1596)tGg>tAg p.W532* LAMA2_uc003qbn.3_Nonsense_Mutation_p.W532*|LAMA2_uc003qbo.3_Nonsense_Mutation_p.W532* NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 532 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGTTCCTACTGGACCTATGGC 0.443000 5 7 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63176271 63176271 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:63176271C>T uc001nww.3 + 8 1789 c.1521C>T c.(1519-1521)ttC>ttT p.F507F SLC22A9_uc001nwx.3_Intron NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA. 507 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TCTTCCCCTTCATCTCTGGCT 0.493000 54 24 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74466513 74466513 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:74466513G>A uc002sko.1 - 15 2270 c.2268C>T c.(2266-2268)tcC>tcT p.S756S SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.S756S|SLC4A5_uc010ffc.1_Silent_p.S756S|SLC4A5_uc002skp.1_Silent_p.S692S|SLC4A5_uc002sks.1_Silent_p.S756S NM_021196 NP_067019 Q9BY07 S4A5_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA. 756 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TCAGGGTCATGGAGTATGTCC 0.532000 43 24 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24924458 24924458 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:24924458G>A uc001ywo.3 + 0 3918 c.3444G>A c.(3442-3444)agG>agA p.R1148R NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 1148 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) CATATGTTAGGAGACATGTCT 0.433000 70 28 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31532757 31532757 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:31532757G>A uc003aka.3 - 5 1357 c.1228C>T c.(1228-1230)Cca>Tca p.P410S NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN Homo sapiens phospholipase A2, group III (PLA2G3), mRNA. 410 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 ACCTCGGGTGGGCTGTGGAGC 0.622000 77 62 0 0 1 0 0 PLCG1 5335 broad.mit.edu 37 20 39794419 39794419 + Silent SNP C T T rs149803392 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:39794419C>T uc002xjp.1 + 15 1873 c.1752C>T c.(1750-1752)ctC>ctT p.L584L PLCG1_uc002xjo.1_Silent_p.L584L|PLCG1_uc010zwe.1_Silent_p.L210L|PLCG1_uc010ggf.3_5'Flank NM_182811 NP_877963 P19174 PLCG1_HUMAN Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA. 584 SH2 1. T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) GCTCCTTCCTCGTGCGAGAGA 0.582000 41 17 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76757090 76757090 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:76757090C>T uc002lmt.3 + 2 3671 c.3671C>T c.(3670-3672)gCc>gTc p.A1224V SALL3_uc010dra.3_Missense_Mutation_p.A759V NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 1224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) AACGGGCTCGCCATGAAGAAC 0.597000 72 90 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 50008401 50008401 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:50008401C>T uc002itv.4 - 3 982 c.246G>A c.(244-246)atG>atA p.M82I CA10_uc002itw.4_Missense_Mutation_p.M76I|CA10_uc002itx.4_Missense_Mutation_p.M76I|CA10_uc002ity.4_Missense_Mutation_p.M76I|CA10_uc002itz.2_Missense_Mutation_p.M76I NM_020178 NP_064563 Q9NS85 CAH10_HUMAN Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA. 76 brain development p.M76I(2) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GGTCGAAGATCATGTGACTGG 0.498000 147 71 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48390545 48390545 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:48390545C>T uc001jez.3 - 0 447 c.333G>A c.(331-333)gaG>gaA p.E111E NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 111 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CAAGCAGTTCCTCTTCTGAGA 0.637000 72 26 0 0 1 0 0 AZGP1 563 broad.mit.edu 37 7 99569423 99569423 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:99569423C>T uc003ush.3 - 1 375 c.283G>A c.(283-285)Gac>Aac p.D95N NM_001185 NP_001176 P25311 ZA2G_HUMAN Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA. 95 antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation MHC class I protein complex|extracellular region fatty acid binding|protein transmembrane transporter activity|ribonuclease activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) ATAAAGATGTCCTCCCTGGCC 0.507000 61 37 0 0 1 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795358 142795358 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:142795358C>T uc004fbz.3 - 1 1074 c.320G>A c.(319-321)gGa>gAa p.G107E NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN Homo sapiens SPANX family, member N2 (SPANXN2), mRNA. 107 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) CTGTGAAGATCCTTCAGATGA 0.527000 159 10 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20126728 20126728 + RNA SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:20126728G>T uc010tcm.2 - 2 c.263C>A Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ATTGTTAACTGGGAACTCCCA 0.393000 45 17 2.37509e-13 2.4042e-13 1 1 0 PPARGC1B 133522 broad.mit.edu 37 5 149206376 149206376 + Silent SNP C T T rs149468899 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:149206376C>T uc003lrc.3 + 2 484 c.393C>T c.(391-393)ccC>ccT p.P131P PPARGC1B_uc003lrb.2_Silent_p.P131P|PPARGC1B_uc003lrd.3_Silent_p.P131P|PPARGC1B_uc021yfr.1_Silent_p.P106P|PPARGC1B_uc003lre.1_Silent_p.P110P|PPARGC1B_uc003lrf.3_Silent_p.P110P NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA. 131 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CGCCTGCCCCCTCATCTGCAC 0.617000 50 28 0 0 1 0 0 MIR520E 574461 broad.mit.edu 37 19 54178988 54178988 + RNA SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:54178988G>A uc021uzn.1 + 0 c.24G>A Homo sapiens microRNA 520e (MIR520E), microRNA. CCCTCAAGATGGAAGCAGTTT 0.433000 33 14 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153054170 153054170 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:153054170G>A uc011dcy.2 + 5 867 c.840G>A c.(838-840)tgG>tgA p.W280* GRIA1_uc003lva.4_Nonsense_Mutation_p.W270*|GRIA1_uc003luy.4_Nonsense_Mutation_p.W270*|GRIA1_uc003luz.4_Nonsense_Mutation_p.W175*|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Nonsense_Mutation_p.W190*|GRIA1_uc011dcx.2_Nonsense_Mutation_p.W201*|GRIA1_uc011dcz.2_Nonsense_Mutation_p.W280*|GRIA1_uc010jia.1_Nonsense_Mutation_p.W250* NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 270 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGCAGCAGTGGAAGAATAGTG 0.532000 67 39 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125316128 125316128 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:125316128C>T uc011lyx.2 + 0 680 c.680C>T c.(679-681)cCc>cTc p.P227L NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA. 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CTCACTGTTCCCCTCCTGCTG 0.502000 117 50 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112050169 112050169 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:112050169G>A uc001pnf.3 + 1 374 c.257G>A c.(256-258)cGa>cAa p.R86Q BCO2_uc001pne.1_Intron|BCO2_uc001png.3_Missense_Mutation_p.R86Q|BCO2_uc001pnh.3_Missense_Mutation_p.R52Q|BCO2_uc010rwt.2_Intron|BCO2_uc009yyn.3_Missense_Mutation_p.R52Q|BCO2_uc001pni.3_Missense_Mutation_p.R52Q NM_031938 NP_001032367 Q9BYV7 BCDO2_HUMAN Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA. 86 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 TCTCTACTTCGAATTGGACCT 0.498000 49 22 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228890217 228890217 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:228890217G>A uc002vpq.2 - 4 381 c.334C>T c.(334-336)Cca>Tca p.P112S SPHKAP_uc002vpp.2_Missense_Mutation_p.P112S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P112S NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 112 cytoplasm protein binding p.L111I(1) 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) ATAAGTTTTGGAAGATCTGGT 0.358000 42 23 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130059738 130059738 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:130059738C>T uc001qfw.3 + 4 738 c.545C>T c.(544-546)cCc>cTc p.P182L ST14_uc010sca.1_5'Flank NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA. 182 proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GTCATGCTGCCCCCGCGGGCG 0.667000 56 29 0 0 1 0 0 LCE1D 353134 broad.mit.edu 37 1 152770602 152770602 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:152770602G>A uc021ozh.1 + 0 332 c.332G>A c.(331-333)gGa>gAa p.G111E LCE1D_uc009wnp.3_Missense_Mutation_p.G111E NM_178352 NP_848129 Q5T752 LCE1D_HUMAN Homo sapiens late cornified envelope 1D (LCE1D), mRNA. 111 Cys-rich. cellular response to calcium ion|keratinization cornified envelope|perinuclear region of cytoplasm large_intestine(1) 1 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGCACTCTGGAGGCTGCTGC 0.612000 75 28 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48413594 48413594 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:48413594T>A uc001jfa.1 - 1 1434 c.1274A>T c.(1273-1275)gAg>gTg p.E425V NM_016204 NP_057288 Q9UK05 GDF2_HUMAN Homo sapiens growth differentiation factor 2 (GDF2), mRNA. 425 BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GCACCCACACTCTGCCACGCT 0.607000 13 6 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887441 3887441 + Silent SNP C T T rs144871484 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:3887441C>T uc003bpt.4 + 1 1877 c.1116C>T c.(1114-1116)ccC>ccT p.P372P SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.P372P NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA. 372 LRRCT. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) ATAGCAATCCCCTCAGGTGTG 0.483000 64 28 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13811842 13811842 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13811842G>A uc003jfd.2 - 43 7363 c.7321C>T c.(7321-7323)Cag>Tag p.Q2441* NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2441 AAA 2 (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) TCTAAGTTCTGGATACAGAAG 0.448000 Kartagener syndrome 39 22 0 0 1 0 0 KLK9 284366 broad.mit.edu 37 19 51507024 51507024 + Missense_Mutation SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:51507024G>T uc002pux.1 - 3 626 c.539C>A c.(538-540)cCt>cAt p.P180H KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.P151H|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'Flank|KLK8_uc002puv.1_Non-coding_Transcript NM_012315 NP_036447 Q9UKQ9 KLK9_HUMAN Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA. 180 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.Y179*(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) GATGTGTCCAGGGTATGCCCA 0.572000 67 3 1 1 1 1 0 ENAM 10117 broad.mit.edu 37 4 71508128 71508128 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:71508128C>T uc011caw.1 + 8 1266 c.985C>T c.(985-987)Cct>Tct p.P329S NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 329 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AAGAAATTTTCCTTCAGGAAG 0.448000 64 26 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172835116 172835116 + Missense_Mutation SNP G A A rs144595913 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:172835116G>A uc003fin.4 - 1 590 c.406C>T c.(406-408)Cgc>Tgc p.R136C NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA. 136 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding p.R136R(1) breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) AACTCATAGCGAACACCCATT 0.418000 68 25 0 0 1 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32197535 32197535 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:32197535C>T uc001ivz.1 - 2 519 c.249G>A c.(247-249)caG>caA p.Q83Q ARHGAP12_uc001ivy.1_Silent_p.Q81Q|ARHGAP12_uc009xls.2_Silent_p.Q81Q|ARHGAP12_uc001iwb.1_Silent_p.Q81Q|ARHGAP12_uc001iwc.1_Silent_p.Q81Q|ARHGAP12_uc009xlq.1_Silent_p.Q81Q|ARHGAP12_uc009xlr.1_Silent_p.Q81Q NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA. 83 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) GACCAGCTACCTGCTTAACAG 0.458000 30 11 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110459717 110459717 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:110459717C>T uc010npv.1 + 14 1611 c.1584C>T c.(1582-1584)ttC>ttT p.F528F PAK3_uc010npt.1_Silent_p.F492F|PAK3_uc010npu.1_Silent_p.F492F|PAK3_uc004eoy.1_Silent_p.F247F|PAK3_uc004eoz.2_Silent_p.F492F|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Silent_p.F513F|PAK3_uc004epa.2_Silent_p.F507F NM_001128168 NP_001121640 O75914 PAK3_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA. 507 Protein kinase. multicellular organismal development ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CAGCTGTATTCCGTGACTTTT 0.408000 TSP Lung(19;0.15) 12 36 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118997498 118997498 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:118997498C>T uc004bjn.3 + 6 2695 c.2314C>T c.(2314-2316)Cct>Tct p.P772S PAPPA_uc011lxp.1_Missense_Mutation_p.P467S|PAPPA_uc011lxq.2_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 772 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ACACACGGTTCCTCCAGCCTG 0.562000 50 25 0 0 1 0 0 GABRQ 55879 broad.mit.edu 37 X 151818999 151818999 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:151818999C>T uc004ffp.1 + 6 877 c.857C>T c.(856-858)tCg>tTg p.S286L NM_018558 NP_061028 Q9UN88 GBRT_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA. 286 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity p.S286L(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) TCTTGGATATCGTTTTGGATG 0.453000 49 117 0 0 1 0 0 HDGFL1 154150 broad.mit.edu 37 6 22570050 22570050 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:22570050C>T uc003nds.3 + 0 373 c.246C>T c.(244-246)atC>atT p.I82I NM_138574 NP_612641 Q5TGJ6 HDGL1_HUMAN Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA. 82 kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) TGTGGGAAATCGAGAACAACC 0.652000 4 13 0 0 1 0 0 MAG 4099 broad.mit.edu 37 19 35793411 35793411 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:35793411C>T uc002nyy.2 + 6 1229 c.1031C>T c.(1030-1032)tCt>tTt p.S344F MAG_uc002nyx.2_Missense_Mutation_p.S344F|MAG_uc010eds.2_Missense_Mutation_p.S319F|MAG_uc002nyz.2_Missense_Mutation_p.S344F NM_002361 NP_001186145 P20916 MAG_HUMAN Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA. 344 Ig-like C2-type 3. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GAGACGGTCTCTATCTTGTGC 0.582000 30 19 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51514575 51514575 + Missense_Mutation SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:51514575T>C uc001zyz.4 - 5 850 c.599A>G c.(598-600)aAc>aGc p.N200S CYP19A1_uc001zza.4_Missense_Mutation_p.N200S|CYP19A1_uc001zzb.2_Missense_Mutation_p.N200S|CYP19A1_uc001zzd.3_Missense_Mutation_p.N200S|CYP19A1_uc010bey.1_Missense_Mutation_p.N200S NM_031226 NP_112503 P11511 CP19A_HUMAN Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA. 200 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) GAAGAGCGTGTTAGAGGTGTC 0.493000 53 25 0 0 1 0 0 QSOX2 169714 broad.mit.edu 37 9 139101119 139101119 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:139101119G>A uc010nbi.2 - 11 1590 c.1552C>T c.(1552-1554)Cat>Tat p.H518Y NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA. 518 ERV/ALR sulfhydryl oxidase. cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) TCACTCAGATGGCCTAGGAAG 0.622000 73 54 0 0 1 0 0 HERC4 26091 broad.mit.edu 37 10 69750933 69750933 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:69750933G>A uc001jng.4 - 11 1606 c.1295C>T c.(1294-1296)tCc>tTc p.S432F HERC4_uc009xpq.3_5'UTR|HERC4_uc001jnf.4_Non-coding_Transcript|HERC4_uc001jnh.4_Missense_Mutation_p.S432F|HERC4_uc009xpr.3_Missense_Mutation_p.S432F|HERC4_uc001jni.4_Missense_Mutation_p.S176F|HERC4_uc021prr.1_5'Flank NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA. 432 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 GCAACCAGAGGAAGAAAACGT 0.244000 30 15 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39203057 39203057 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:39203057C>T uc003jls.3 - 0 73 c.6G>A c.(4-6)gcG>gcA p.A2A FYB_uc003jlt.3_Silent_p.A2A|FYB_uc003jlu.3_Silent_p.A2A|FYB_uc011cpl.2_Silent_p.A12A NM_199335 NP_955367 O15117 FYB_HUMAN Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA. 2 NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation cytosol|nucleus protein binding p.A2V(1) endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGTTATATTTCGCCATGAGGG 0.433000 37 35 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176992616 176992616 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:176992616G>A uc001glc.3 - 6 1574 c.1362C>T c.(1360-1362)tcC>tcT p.S454S ASTN1_uc001glb.1_Silent_p.S454S|ASTN1_uc001gld.1_Silent_p.S454S|ASTN1_uc009wwx.1_Silent_p.S454S|ASTN1_uc001gle.4_Non-coding_Transcript NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 454 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AGGGTCCGCTGGAGTTCTGCT 0.647000 12 7 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906435 164906435 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:164906435G>A uc003fej.4 - 1 2628 c.2184C>T c.(2182-2184)tcC>tcT p.S728S SLITRK3_uc003fek.3_Silent_p.S728S|SLITRK3_uc021xgy.1_Silent_p.S728S NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 728 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TCTCTGGAGAGGAAAGAGTTG 0.572000 HNSCC(40;0.11) 26 14 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21355570 21355570 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:21355570C>T uc001req.4 + 9 1385 c.1281C>T c.(1279-1281)ttC>ttT p.F427F NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA. 427 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TATATTTTTTCATACTCTGTG 0.308000 29 16 0 0 1 0 0 MESP2 145873 broad.mit.edu 37 15 90320321 90320321 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:90320321C>T uc002bon.3 + 0 733 c.733C>T c.(733-735)Ccc>Tcc p.P245S MESP2_uc010uqa.2_Intron NM_001039958 NP_001035047 Q0VG99 MESP2_HUMAN Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA. 245 Notch signaling pathway nucleus DNA binding kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) CGACACGGATCCCTGGGCAAC 0.701000 10 7 0 0 1 0 0 HS3ST6 64711 broad.mit.edu 37 16 1961872 1961873 + Missense_Mutation DNP CC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:1961872_1961873CC>TT uc002cnf.3 - 1 654_655 c.654_655GG>AA c.(652-657)ggggag>ggAAag p.E219K TCRBV20S1_uc021tak.1_Intron NM_001009606 NP_001009606 C9JH64 C9JH64_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA. 219 endometrium(2)|lung(2) 4 ACCAGACGCTCCCCGCTGACGA 0.663000 35 27 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772150 4772150 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:4772150G>A uc001alm.1 + 1 601 c.220G>A c.(220-222)Gtc>Atc p.V74I AJAP1_uc001aln.3_Missense_Mutation_p.V74I NM_001042478 NP_061324 Q9UKB5 AJAP1_HUMAN Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA. 74 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane p.V74F(2) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) GCCAGCGCGGGTCCCGGCCCC 0.761000 9 6 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138670542 138670542 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:138670542G>A uc011mdq.2 + 22 2677 c.2603G>A c.(2602-2604)aGc>aAc p.S868N KCNT1_uc011mdr.2_Missense_Mutation_p.S695N|KCNT1_uc010nbf.3_Missense_Mutation_p.S823N|KCNT1_uc004cgo.1_Missense_Mutation_p.S617N NM_020822 NP_065873 B7ZVY4 B7ZVY4_HUMAN Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA. 868 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) AGCCTGGACAGCCTGCTGCAG 0.652000 52 31 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49597902 49597902 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:49597902C>T uc010rhy.2 + 1 493 c.15C>T c.(13-15)atC>atT p.I5I LOC440040_uc009ymb.3_Silent_p.I5I Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA. TGGGTGACATCATTATTGGAG 0.498000 34 18 0 0 1 0 0 APPBP2 10513 broad.mit.edu 37 17 58524960 58524960 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:58524960G>A uc002iys.1 - 12 2028 c.1740C>T c.(1738-1740)gtC>gtT p.V580V APPBP2_uc010ddl.1_Silent_p.V509V NM_006380 NP_006371 Q92624 APBP2_HUMAN Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA. 580 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) TCGGTCCCTCGACATTCTGAG 0.488000 85 46 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21775320 21775320 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:21775320G>A uc003svc.3 + 46 7555 c.7524G>A c.(7522-7524)gaG>gaA p.E2508E NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 2508 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGTTGCTTGAGAAAGGAAAAC 0.423000 Kartagener syndrome 7 10 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28545157 28545157 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:28545157G>A uc002hey.4 - 4 1221 c.677C>T c.(676-678)tCc>tTc p.S226F NM_001045 NP_001036 P31645 SC6A4_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA. 226 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) TTCAGCAGGGGACGTGGAATG 0.547000 43 10 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83781803 83781803 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:83781803C>T uc010vns.2 + 11 2034 c.1770C>T c.(1768-1770)tcC>tcT p.S590S CDH13_uc002fgx.3_Silent_p.S543S|CDH13_uc010vnt.2_Silent_p.S289S|CDH13_uc010vnu.2_Silent_p.S504S NM_001220488 NP_001207417 P55290 CAD13_HUMAN Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA. 543 Cadherin 5. Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) ACCGTGAGTCCCCATTTGTCG 0.458000 89 46 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28345511 28345511 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:28345511C>T uc001iua.1 - 17 1853 c.1449G>A c.(1447-1449)gtG>gtA p.V483V MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.V483V|MPP7_uc009xla.2_Silent_p.V483V|MPP7_uc010qdv.1_Non-coding_Transcript NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA. 483 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TTATAAATATCACATAGGGCT 0.353000 44 22 0 0 1 0 0 CES3 23491 broad.mit.edu 37 16 66997130 66997130 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:66997130G>A uc002eqt.3 + 1 210 c.131G>A c.(130-132)cGa>cAa p.R44Q CES3_uc010cdz.3_Missense_Mutation_p.R44Q NM_024922 NP_079198 Q6UWW8 EST3_HUMAN Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA. 44 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GGTCGTGTGCGAGGCCGGCAG 0.637000 55 37 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13720046 13720046 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:13720046G>A uc001rbt.2 - 11 2690 c.2511C>T c.(2509-2511)atC>atT p.I837I NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 837 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|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTGTTCGCAGATGAAGGTGA 0.507000 41 27 0 0 1 0 0 LOC646214 646214 broad.mit.edu 37 15 21937939 21937939 + RNA SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:21937939C>T uc010tzj.1 - 0 c.2801G>A Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. CTTTTTACTTCCTTTCTCTGT 0.418000 438 26 0 0 1 0 0 CSRP1 1465 broad.mit.edu 37 1 201465403 201465403 + Missense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:201465403C>G uc021phg.1 - 1 182 c.29G>C c.(28-30)tGt>tCt p.C10S CSRP1_uc021phh.1_Missense_Mutation_p.C10S|CSRP1_uc001gws.3_Missense_Mutation_p.C10S|CSRP1_uc010ppr.2_Missense_Mutation_p.C10S|CSRP1_uc010pps.2_Missense_Mutation_p.C10S NM_001193572 NP_004069 P21291 CSRP1_HUMAN Homo sapiens cysteine and glycine-rich protein 1 (CSRP1), transcript variant 5, mRNA. 10 LIM zinc-binding 1. nucleus zinc ion binding large_intestine(3)|lung(2)|ovary(1) 6 ACACACCCCACATTTCTTGCC 0.493000 92 38 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433306 140433306 + Missense_Mutation SNP C T T rs143394864 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140433306C>T uc003lik.1 + 0 2328 c.2251C>T c.(2251-2253)Cgg>Tgg p.R751W NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 751 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) ATCCTTATCTCGGCCTTGTCC 0.408000 40 23 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9068444 9068444 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9068444G>A uc002mkp.3 - 2 19206 c.19002C>T c.(19000-19002)atC>atT p.I6334I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6336 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.I6334T(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGTGGAAGTGATAACTACTG 0.453000 42 13 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29519770 29519770 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:29519770G>A uc002rmy.3 - 8 2753 c.1801C>T c.(1801-1803)Ctc>Ttc p.L601F NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 601 MAM 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GACACATCGAGGAGAGGCAAC 0.532000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 33 14 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123512584 123512584 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:123512584G>A uc003ego.3 - 3 387 c.105C>T c.(103-105)ttC>ttT p.F35F MYLK_uc011bjw.2_Silent_p.F35F|MYLK_uc003egp.3_Silent_p.F35F|MYLK_uc003egq.3_Silent_p.F35F|MYLK_uc003egr.3_Silent_p.F35F|MYLK_uc003egs.3_5'UTR|MYLK_uc010hrs.1_Silent_p.F35F|MYLK_uc003egu.1_Silent_p.F45F NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 35 Ig-like C2-type 1. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GGGGCAAAATGAAAGCAGGGG 0.567000 19 13 0 0 1 0 0 XKR5 389610 broad.mit.edu 37 8 6679422 6679422 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:6679422G>A uc022aqv.1 - 4 927 c.776C>T c.(775-777)cCt>cTt p.P259L XKR5_uc003wqq.3_Missense_Mutation_p.P96L NM_207411 NP_997294 Q6UX68 XKR5_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA. 259 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) ATTTCTAGAAGGGCTGTCCCA 0.517000 2 7 0 0 1 0 0 FRMD8 83786 broad.mit.edu 37 11 65168331 65168331 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:65168331C>T uc001odu.4 + 8 1256 c.1064C>T c.(1063-1065)tCc>tTc p.S355F FRMD8_uc009yqj.3_Missense_Mutation_p.S299F|FRMD8_uc010rof.2_Missense_Mutation_p.S321F NM_031904 NP_114110 Q9BZ67 FRMD8_HUMAN Homo sapiens FERM domain containing 8 (FRMD8), mRNA. 355 FERM. cytoskeleton binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1) 17 AAGATCTACTCCAAGCAGGTA 0.652000 27 22 0 0 1 0 0 TBC1D3B 414059 broad.mit.edu 37 17 34499227 34499227 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:34499227G>A uc002hky.2 - 6 634 c.484C>T c.(484-486)Cga>Tga p.R162* DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank NM_001001417 NP_001001417 A6NDS4 TBC3B_HUMAN Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA. 162 Rab-GAP TBC. intracellular Rab GTPase activator activity endometrium(2)|lung(3)|pancreas(1) 6 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTTCCGTATCGATCCCTGAAG 0.562000 583 33 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458620 248458620 + Missense_Mutation SNP A T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:248458620A>T uc010pzj.2 - 0 261 c.261T>A c.(259-261)aaT>aaA p.N87K NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA. 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 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;0.0201) AGATGGCCTTATTTCCGGTCA 0.562000 69 10 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179642656 179642656 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179642656G>A uc021vsy.1 - 24 4480 c.4255C>T c.(4255-4257)Cct>Tct p.P1419S TTN_uc021vsz.1_Missense_Mutation_p.P1373S|TTN_uc021vta.1_Missense_Mutation_p.P1373S|TTN_uc021vtb.1_Missense_Mutation_p.P1373S|TTN_uc002unb.2_Missense_Mutation_p.P1419S|AK123298_uc002unc.1_Non-coding_Transcript NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1419 ZIS5. 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) ATCCGTGCAGGAGACATGCGT 0.498000 21 16 0 0 1 0 0 ATXN7 6314 broad.mit.edu 37 3 63965651 63965651 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:63965651C>T uc003dlv.3 + 5 1113 c.560C>T c.(559-561)tCc>tTc p.S187F ATXN7_uc003dlw.4_Missense_Mutation_p.S187F|ATXN7_uc021wzy.1_Missense_Mutation_p.S187F|ATXN7_uc010hnw.3_Missense_Mutation_p.S42F|ATXN7_uc011bfn.2_Missense_Mutation_p.S42F NM_000333 NP_000324 O15265 ATX7_HUMAN Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA. 187 Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) TCAGTATTTTCCTTCTTCCCT 0.458000 40 20 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141116507 141116507 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:141116507G>A uc002tvj.1 - 72 12112 c.11140C>T c.(11140-11142)Ctt>Ttt p.L3714F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3714 LDL-receptor class A 31. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.L3714I(2) 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) GATGGACAAAGAAATTTGACT 0.368000 TSP Lung(27;0.18) 39 16 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55581809 55581809 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:55581809C>T uc010qhy.1 - 34 6093 c.5698G>A c.(5698-5700)Gaa>Aaa p.E1900K PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.E747K|PCDH15_uc021pqy.1_Missense_Mutation_p.E1895K|PCDH15_uc021pqz.1_Missense_Mutation_p.E1870K|PCDH15_uc010qhv.1_Missense_Mutation_p.E1890K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1853K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1824K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1895K|PCDH15_uc010qia.1_Missense_Mutation_p.E1873K|PCDH15_uc001jju.1_Missense_Mutation_p.E1893K|PCDH15_uc010qib.1_Missense_Mutation_p.E1870K NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1893 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACTGATTTTTCAAGTTCTGCT 0.373000 HNSCC(58;0.16) 71 42 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67259723 67259723 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:67259723C>T uc001olx.3 - 22 3705 c.3516G>A c.(3514-3516)gcG>gcA p.A1172A PITPNM1_uc001olw.3_Silent_p.A454A|PITPNM1_uc001oly.3_Silent_p.A1172A|PITPNM1_uc001olz.3_Silent_p.A1171A NM_004910 NP_004901 O00562 PITM1_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA. 1172 brain development|lipid metabolic process|phototransduction|protein transport Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 AGTGCGAGCCCGCTTCCAGCT 0.672000 10 8 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10426639 10426639 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:10426639C>T uc010coi.3 - 37 5691 c.5563G>A c.(5563-5565)Gaa>Aaa p.E1855K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1855K|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1855 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TAAGTGAGTTCCTTCACTCGC 0.458000 70 22 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38525521 38525521 + Missense_Mutation SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:38525521C>A uc003auy.1 - 7 1262 c.1126G>T c.(1126-1128)Gtg>Ttg p.V376L PLA2G6_uc003auz.1_Missense_Mutation_p.V376L|PLA2G6_uc003ava.1_Missense_Mutation_p.V376L|PLA2G6_uc003avb.2_Missense_Mutation_p.V376L|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Missense_Mutation_p.V341L NM_003560 NP_003551 O60733 PA2G6_HUMAN Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA. 376 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) GGGGTGTCCACTTCTGCTCCG 0.542000 48 64 6.47592e-44 6.60384e-44 1 1 0 EDNRB 1910 broad.mit.edu 37 13 78493599 78493599 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:78493599G>A uc001vkp.1 - 0 305 c.152C>T c.(151-153)gCt>gTt p.A51V BX647243_uc001vks.3_5'Flank|EDNRB_uc001vkq.1_Intron|EDNRB_uc001vko.2_5'Flank|EDNRB_uc010aez.1_5'Flank NM_001201397 NP_001188326 P24530 EDNRB_HUMAN Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA. 0 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding p.K51E(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) GCGGAACCCAGCTGGGTTCCA 0.582000 OREG0022452 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 13 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61034971 61034972 + Missense_Mutation DNP GG AA AA rs144830880 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:61034971_61034972GG>AA uc001nra.3 - 15 2206_2207 c.1927_1928CC>TT c.(1927-1929)ccg>TTg p.P643L VWCE_uc001nrb.3_Non-coding_Transcript NM_152718 NP_689931 Q96DN2 VWCE_HUMAN Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA. 643 VWFC 5. extracellular region calcium ion binding p.P643P(1) biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 CAGCACAGACGGGAAGGTCTCG 0.594000 60 27 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217285 150217285 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150217285G>A uc003whk.3 + 1 353 c.223G>A c.(223-225)Gac>Aac p.D75N GIMAP7_uc022apu.1_Missense_Mutation_p.D75N NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA. 75 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGAGAGCCTGGACACCACCTG 0.557000 18 20 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24922426 24922426 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:24922426C>T uc001ywo.3 + 0 1886 c.1412C>T c.(1411-1413)cCc>cTc p.P471L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 471 Pro-rich. 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) GACCTTGTTCCCATTTTGGGT 0.488000 80 59 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88717214 88717214 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:88717214G>A uc001kea.3 - 0 212 c.85C>T c.(85-87)Ctc>Ttc p.L29F MMRN2_uc010qmn.2_5'UTR|MMRN2_uc009xtb.2_Missense_Mutation_p.L29F|SNCG_uc001keb.2_5'Flank NM_024756 NP_079032 Q9H8L6 MMRN2_HUMAN Homo sapiens multimerin 2 (MMRN2), mRNA. 29 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 AGATCAGAGAGGCTAGTACTG 0.652000 41 25 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150696397 150696397 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:150696397G>A uc003lty.3 - 9 1563 c.1433C>T c.(1432-1434)tCc>tTc p.S478F SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.S280F NM_181776 NP_861441 Q495M3 S36A2_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA. 478 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAAAGTGGTGGAGTTGGAAAA 0.493000 45 21 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88729796 88729796 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:88729796G>A uc001xwm.3 - 1 274 c.152C>T c.(151-153)tCc>tTc p.S51F KCNK10_uc001xwn.3_Missense_Mutation_p.S51F|KCNK10_uc001xwo.3_Missense_Mutation_p.S46F NM_138318 NP_612191 P57789 KCNKA_HUMAN Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA. 46 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity p.S46F(1)|p.V51E(1)|p.S51F(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GGCTCGGGAGGAAATGGACAG 0.642000 84 38 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71015054 71015054 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:71015054G>A uc003dol.3 - 15 2199 c.1876C>T c.(1876-1878)Cct>Tct p.P626S FOXP1_uc003dom.3_Missense_Mutation_p.P550S|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.P626S|FOXP1_uc003doo.3_Missense_Mutation_p.P625S|FOXP1_uc003dop.3_Missense_Mutation_p.P626S|FOXP1_uc021xao.1_Missense_Mutation_p.P642S|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.3_Missense_Mutation_p.P526S|FOXP1_uc003dok.3_Missense_Mutation_p.P552S|FOXP1_uc003doj.3_Missense_Mutation_p.P628S NM_001244814 NP_001231743 Q9H334 FOXP1_HUMAN Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA. 626 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GCTTGCATAGGAGATCTGCCT 0.547000 T PAX5 ALL 151 84 0 0 1 0 0 MST1P2 11209 broad.mit.edu 37 1 16973874 16973874 + RNA SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:16973874G>A uc009vow.2 + 4 c.684G>A CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_5'Flank|MST1P2_uc001azm.4_5'Flank Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. GGACTCCAGGGGCAGGGCTCC 0.672000 13 3 0 0 1 0 0 GLIPR1 11010 broad.mit.edu 37 12 75884292 75884292 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:75884292G>A uc001sxs.3 + 2 675 c.527G>A c.(526-528)gGa>gAa p.G176E GLIPR1_uc009zsb.1_Missense_Mutation_p.D200N NM_006851 NP_006842 P48060 GLIP1_HUMAN Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA. 176 cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 TGCAACTACGGACCAGGGTAA 0.438000 16 18 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138421024 138421024 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:138421024G>A uc002tva.1 + 24 4440 c.4440G>A c.(4438-4440)atG>atA p.M1480I THSD7B_uc010zbj.1_Non-coding_Transcript 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) ATTACTGCATGAAAGTACCAG 0.358000 7 3 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G A A rs2821609 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:14414902G>A uc002yiy.3 + 1 c.339G>A ANKRD30BP2_uc002yja.4_Non-coding_Transcript Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. CCAGCTTGACGTCCTTGATGG 0.443000 40 3 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141299440 141299440 + Missense_Mutation SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:141299440T>C uc002tvj.1 - 43 8267 c.7295A>G c.(7294-7296)aAc>aGc p.N2432S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2432 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) TGTGTACTTGTTGGACCGCAG 0.428000 TSP Lung(27;0.18) 71 35 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52132655 52132655 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:52132655C>T uc002pxe.3 - 2 795 c.656G>A c.(655-657)gGa>gAa p.G219E NM_003830 NP_003821 O15389 SIGL5_HUMAN Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA. 219 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CACCTGAGCTCCTTGGCGTTT 0.632000 63 30 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98155082 98155082 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:98155082C>T uc001kml.2 - 12 1829 c.1588G>A c.(1588-1590)Gaa>Aaa p.E530K TLL2_uc009xvf.2_Missense_Mutation_p.E508K NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN Homo sapiens tolloid-like 2 (TLL2), mRNA. 530 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.T529T(1) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) GCACTCTCTTCCGTGGGGCCA 0.527000 42 28 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57648286 57648286 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:57648286C>T uc002qnz.1 - 3 582 c.196G>A c.(196-198)Gag>Aag p.E66K NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 66 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AACCATGGCTCCTTTCCTTGT 0.527000 74 29 0 0 1 0 0 SERTAD3 29946 broad.mit.edu 37 19 40947780 40947780 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:40947780G>A uc002onu.4 - 1 486 c.208C>T c.(208-210)Cgc>Tgc p.R70C SERTAD3_uc002onv.4_Missense_Mutation_p.R70C|SERTAD3_uc021uut.1_Missense_Mutation_p.R70C NM_013368 NP_976219 Q9UJW9 SRTD3_HUMAN Homo sapiens SERTA domain containing 3 (SERTAD3), transcript variant 1, mRNA. 70 SERTA. negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(4)|lung(2) 7 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGAGCCAGGCGAAGTGCAGCC 0.657000 13 5 0 0 1 0 0 OR6C75 390323 broad.mit.edu 37 12 55759074 55759074 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:55759074C>T uc010spk.2 + 0 180 c.180C>T c.(178-180)ttC>ttT p.F60F NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA. 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 TGTATTTCTTCCTTCGGAACT 0.418000 83 48 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28916477 28916477 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:28916477C>T uc002kwp.3 + 8 1378 c.1166C>T c.(1165-1167)tCa>tTa p.S389L NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 389 Cadherin 4. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CGTCCAGGTTCAAAGACATAT 0.383000 45 20 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166963269 166963269 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:166963269G>A uc003irh.2 + 10 1999 c.1352G>A c.(1351-1353)gGa>gAa p.G451E TLL1_uc011cjn.2_Missense_Mutation_p.G451E|TLL1_uc011cjo.2_Missense_Mutation_p.G275E NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 451 CUB 1. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AATTGGGTAGGAAAAGGCTTT 0.368000 57 31 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38869168 38869168 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:38869168C>T uc003jln.2 + 1 424 c.22C>T c.(22-24)Cag>Tag p.Q8* OSMR_uc003jlm.2_Nonsense_Mutation_p.Q8* NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 8 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TGCAGTCTTTCAGACAACATT 0.343000 49 44 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4843639 4843639 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4843639G>A uc010qyn.2 + 0 1024 c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA. 342 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) AGCCATTTATGAATAAGTGCT 0.348000 25 7 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13894920 13894920 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13894920G>A uc003jfd.2 - 15 2312 c.2270C>T c.(2269-2271)gCt>gTt p.A757V NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 757 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGATATTCAGCTAGCATCAT 0.378000 Kartagener syndrome 93 62 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179433331 179433331 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179433331C>T uc021vsy.1 - 274 70049 c.69824G>A c.(69823-69825)aGa>aAa p.R23275K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R16970K|TTN_uc021vta.1_Missense_Mutation_p.R16903K|TTN_uc021vtb.1_Missense_Mutation_p.R16778K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 24202 Fibronectin type-III 69. 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) AACATTGATTCTTGTGGTCTG 0.423000 72 35 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85383917 85383917 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:85383917C>T uc002ble.3 + 4 2180 c.2013C>T c.(2011-2013)tcC>tcT p.S671S NM_020778 NP_065829 Q96L96 ALPK3_HUMAN Homo sapiens alpha-kinase 3 (ALPK3), mRNA. 671 heart development nucleus ATP binding|protein serine/threonine kinase activity p.H670D(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCACACACTCCTTGACCCCCC 0.627000 34 14 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12649325 12649325 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:12649325C>T uc002gno.2 + 8 1360 c.1061C>T c.(1060-1062)tCt>tTt p.S354F MYOCD_uc002gnn.2_Missense_Mutation_p.S354F|MYOCD_uc002gnp.1_Missense_Mutation_p.S258F|MYOCD_uc002gnq.2_Missense_Mutation_p.S73F NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 354 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) AACAGTTTTTCTGGACAAACT 0.408000 78 37 0 0 1 0 0 HEYL 26508 broad.mit.edu 37 1 40092319 40092319 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:40092319G>A uc001cdp.3 - 4 898 c.847C>T c.(847-849)Ccc>Tcc p.P283S HEYL_uc010oiw.2_Missense_Mutation_p.P255S NM_014571 NP_055386 Q9NQ87 HEYL_HUMAN Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA. 283 Pro-rich. Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GGACCAGGGGGTGTTGGGGAG 0.682000 5 3 0 0 1 0 0 CD180 4064 broad.mit.edu 37 5 66480342 66480342 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:66480342C>T uc003juy.2 - 2 477 c.329G>A c.(328-330)gGa>gAa p.G110E NM_005582 NP_005573 Q99467 CD180_HUMAN Homo sapiens CD180 molecule (CD180), mRNA. 110 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) CAGGGGATTTCCAGTTAACAC 0.368000 71 37 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546771 11546771 + Missense_Mutation SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:11546771G>C uc010shk.1 - 2 276 c.241C>G c.(241-243)Cca>Gca p.P81A NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. p.P81A(1)|p.P60A(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGTGGGGGTGGTCCTTGTGGC 0.612000 240 8 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404428 20404428 + Silent SNP G A A rs149331677 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:20404428G>A uc001vwj.2 + 0 662 c.603G>A c.(601-603)acG>acA p.T201T NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA. 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TGACCCTAACGAACAGTGGCC 0.448000 57 21 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49694454 49694454 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:49694454C>T uc003cxe.4 + 4 7579 c.7465C>T c.(7465-7467)Ccc>Tcc p.P2489S NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 2489 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCGAGGGCCTCCCCTAGCGGC 0.642000 20 8 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115343993 115343993 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:115343993C>T uc001lai.4 + 10 1427 c.1324C>T c.(1324-1326)Ccc>Tcc p.P442S HABP2_uc021pyr.1_Missense_Mutation_p.P416S|HABP2_uc010qrz.1_Non-coding_Transcript NM_004132 NP_001171131 Q14520 HABP2_HUMAN Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA. 442 Peptidase S1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) TGGGTCCTTTCCCTCTGGGAG 0.512000 37 14 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166245527 166245527 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:166245527C>T uc002udc.3 + 26 5501 c.5211C>T c.(5209-5211)caC>caT p.H1737H SCN2A_uc002udd.3_Silent_p.H1737H|SCN2A_uc002ude.3_Silent_p.H1737H|SCN2A_uc021vry.1_Silent_p.H237H NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 1737 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ACAAAGATCACCCTGGAAGCT 0.453000 119 88 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100126624 100126624 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:100126624C>T uc001pga.3 + 16 2642 c.2138C>T c.(2137-2139)tCc>tTc p.S713F CNTN5_uc001pfz.3_Missense_Mutation_p.S713F|CNTN5_uc021qpb.1_Missense_Mutation_p.S713F|CNTN5_uc021qpc.1_Missense_Mutation_p.S639F|CNTN5_uc010ruk.2_5'UTR NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 713 Fibronectin type-III 1. 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) AGCCCATTTTCCCTGGGCTGG 0.493000 35 21 0 0 1 0 0 NBL1 4681 broad.mit.edu 37 1 19981608 19981608 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:19981608C>T uc001bcj.2 + 1 273 c.190C>T c.(190-192)Cca>Tca p.P64S NBL1_uc021ohw.1_Missense_Mutation_p.P43S|NBL1_uc009vpl.2_Missense_Mutation_p.P29S|NBL1_uc009vpm.2_Missense_Mutation_p.P29S|NBL1_uc001bck.2_Missense_Mutation_p.P29S|NBL1_uc021ohy.1_Missense_Mutation_p.P28S|NBL1_uc021ohz.1_Missense_Mutation_p.P63S NM_182744 NP_001191018 P41271 NBL1_HUMAN Homo sapiens neuroblastoma, suppression of tumorigenicity 1 (NBL1), transcript variant 1, mRNA. 28 CTCK. extracellular region lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGCACTGTTCCCAGATAAGAG 0.622000 14 9 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159481558 159481559 + Missense_Mutation DNP CC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:159481558_159481559CC>TT uc002tzv.3 + 6 1032_1033 c.772_773CC>TT c.(772-774)ccc>TTc p.P258F PKP4_uc002tzt.1_Missense_Mutation_p.P110F|PKP4_uc002tzu.3_Missense_Mutation_p.P258F|PKP4_uc002tzw.3_Missense_Mutation_p.P258F|PKP4_uc002tzx.3_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.P256F|PKP4_uc002uaa.3_Missense_Mutation_p.P110F NM_003628 NP_003619 Q99569 PKP4_HUMAN Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA. 258 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 ACCTCTGAACCCCAGTGCATAT 0.579000 HNSCC(62;0.18) 53 15 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38266349 38266349 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 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 14 14 0 0 1 0 0 NR2F2 7026 broad.mit.edu 37 15 96877367 96877367 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:96877367G>A uc010uri.2 + 1 1729 c.505G>A c.(505-507)Ggg>Agg p.G169R NR2F2_uc002btp.3_Missense_Mutation_p.G36R|NR2F2_uc010urj.2_Missense_Mutation_p.G16R|NR2F2_uc010urk.2_Missense_Mutation_p.G16R NM_021005 NP_001138629 P24468 COT2_HUMAN Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA. 169 Interaction with ZFPM2 (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding p.G169W(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1) 17 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) GCTGACCAACGGGGATCCCCT 0.637000 133 64 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596626 24596626 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:24596626C>T uc011djo.2 - 2 776 c.276G>A c.(274-276)aaG>aaA p.K92K KIAA0319_uc011djp.2_Silent_p.K47K|KIAA0319_uc003neh.1_Silent_p.K92K|KIAA0319_uc011djq.1_Silent_p.K83K|KIAA0319_uc011djr.1_Silent_p.K92K NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 92 MANSC. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TGGGGCCCATCTTCTTGGGCT 0.602000 74 23 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179597727 179597727 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179597727C>T uc021vsy.1 - 51 12669 c.12444G>A c.(12442-12444)aaG>aaA p.K4148K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K809K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5075 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) CTTTGCCATCCTTAAACCAGG 0.478000 20 6 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49063906 49063906 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:49063906G>A uc003gyv.3 + 15 2281 c.2099G>A c.(2098-2100)tGa>tAa p.*700* CWH43_uc011bzl.2_Silent_p.*673* NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 0 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TACTTTTTATGAAACATTTAA 0.254000 22 13 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25670468 25670468 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:25670468G>A uc001upy.3 + 0 193 c.132G>A c.(130-132)agG>agA p.R44R NM_030979 NP_112241 Q9H361 PABP3_HUMAN Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA. 44 RRM 1. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GGATCTGCAGGGACTTGATCA 0.572000 70 18 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35045502 35045502 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:35045502G>A uc003zvw.3 + 1 2905 c.2876G>A c.(2875-2877)gGg>gAg p.G959E C9orf131_uc003zvu.3_Missense_Mutation_p.G911E|C9orf131_uc003zvv.3_Missense_Mutation_p.G886E|C9orf131_uc003zvx.3_Missense_Mutation_p.G924E NM_203299 NP_976044 Q5VYM1 CI131_HUMAN Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA. 959 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CATAGAAGAGGGACTGCAAGG 0.537000 69 36 0 0 1 0 0 RNF185 91445 broad.mit.edu 37 22 31597595 31597595 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:31597595C>T uc003akb.3 + 5 675 c.475C>T c.(475-477)Cct>Tct p.P159S RNF185_uc010gwh.3_Non-coding_Transcript|RNF185_uc011alm.2_Missense_Mutation_p.P97S|RNF185_uc003akc.3_Missense_Mutation_p.P97S|RNF185_uc003ake.3_Missense_Mutation_p.P103S NM_152267 NP_689480 Q96GF1 RN185_HUMAN Homo sapiens ring finger protein 185 (RNF185), transcript variant 1, mRNA. 159 integral to membrane zinc ion binding NS(1)|large_intestine(1)|lung(3)|skin(1) 6 TGGGCGGCCTCCTCCAGGTAA 0.388000 68 18 0 0 1 0 0 STAU1 6780 broad.mit.edu 37 20 47770481 47770481 + Silent SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:47770481A>G uc002xud.3 - 3 744 c.333T>C c.(331-333)gcT>gcC p.A111A STAU1_uc002xua.3_Silent_p.A30A|STAU1_uc002xub.3_Silent_p.A30A|STAU1_uc002xuc.3_Silent_p.A30A|STAU1_uc002xue.3_Silent_p.A30A|STAU1_uc002xuf.3_Silent_p.A30A|STAU1_uc002xug.3_Silent_p.A111A NM_017453 NP_059348 O95793 STAU1_HUMAN Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA. 111 DRBM 1. microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TCGGGGGATAAGCACCTCCTC 0.388000 23 9 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79349983 79349983 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:79349983G>A uc010ysd.2 + 3 405 c.338G>A c.(337-339)tGg>tAg p.W113* REG1A_uc002snz.3_Nonsense_Mutation_p.W113* NM_002909 NP_002900 P05451 REG1A_HUMAN Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA. 113 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 CGCTGGCACTGGAGCAGTGGG 0.557000 84 33 0 0 1 0 0 PKN3 29941 broad.mit.edu 37 9 131469542 131469542 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:131469542C>T uc004bvw.3 + 5 1086 c.693C>T c.(691-693)ctC>ctT p.L231L PKN3_uc010myh.3_Silent_p.L231L|PKN3_uc022bom.1_Non-coding_Transcript NM_013355 NP_037487 Q6P5Z2 PKN3_HUMAN Homo sapiens protein kinase N3 (PKN3), mRNA. 231 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 AACTGGACCTCCTGCGCCTGG 0.652000 13 4 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29274625 29274625 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:29274625C>T uc011dln.2 + 0 159 c.159C>T c.(157-159)ctC>ctT p.L53L NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA. 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 ACCGTCGTCTCCATTCCCCCA 0.468000 27 159 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4567157 4567157 + Missense_Mutation SNP C T T rs145064459 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4567157C>T uc010qyf.2 + 0 737 c.737C>T c.(736-738)tCt>tTt p.S246F NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACATGCGCTTCTCACCTCTGT 0.517000 65 29 0 0 1 0 0 GOT2 2806 broad.mit.edu 37 16 58749978 58749978 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:58749978G>A uc002eof.1 - 7 1073 c.959C>T c.(958-960)cCc>cTc p.P320L GOT2_uc010vim.1_Missense_Mutation_p.P277L NM_002080 NP_002071 P00505 AATM_HUMAN Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA. 320 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCCATTGAGGGGAGGGTTGGA 0.517000 30 28 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 155838626 155838626 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:155838626G>A uc003far.2 + 0 290 c.226G>A c.(226-228)Gac>Aac p.D76N KCNAB1_uc011bon.1_Missense_Mutation_p.D76N NM_172160 NP_751892 Q14722 KCAB1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA. 76 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AAAGCTCTGCGACCTGTCCAG 0.617000 24 19 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16510269 16510269 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:16510269C>T uc003goz.3 - 6 1096 c.780G>A c.(778-780)agG>agA p.R260R LDB2_uc003gpa.3_Silent_p.R260R|LDB2_uc011bxh.2_Silent_p.R232R|LDB2_uc003gpb.3_Silent_p.R260R|LDB2_uc010iee.3_Silent_p.R260R|LDB2_uc011bxi.2_Silent_p.R136R NM_001290 NP_001281 O43679 LDB2_HUMAN Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA. 260 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 TGGAATTTTTCCTTTTTCTCC 0.488000 32 14 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29225431 29225431 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:29225431G>A uc010ezl.3 + 4 808 c.457G>A c.(457-459)Gga>Aga p.G153R FAM179A_uc010ymm.2_Missense_Mutation_p.G153R NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 153 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGGCCCCCAAGGAGTTCCCCT 0.617000 18 11 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168103124 168103124 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:168103124G>A uc002udx.3 + 8 5311 c.5222G>A c.(5221-5223)gGa>gAa p.G1741E XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G1566E|XIRP2_uc010fpq.3_Missense_Mutation_p.G1519E|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1566 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCTGAGAGAGGAAATGTTCAG 0.368000 28 16 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19317435 19317435 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:19317435G>A uc010vyw.2 + 6 1084 c.853G>A c.(853-855)Gat>Aat p.D285N RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.D168N NM_007148 NP_009079 Q7Z5V9 Q7Z5V9_HUMAN Homo sapiens ring finger protein 112 (RNF112), mRNA. 285 GTP binding|GTPase activity|zinc ion binding p.D285N(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 GGAGCTGAAGGATACAGACCT 0.562000 37 13 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7473361 7473361 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:7473361C>T uc001qsx.1 + 5 962 c.962C>T c.(961-963)cCc>cTc p.P321L NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA. 321 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 TGCAGTCCTCCCACTGTGTAC 0.468000 30 10 0 0 1 0 0 KIR2DL5B 553128 broad.mit.edu 37 GL000209.1 89544 89544 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrGL000209.1:89544C>T uc002quk.1 + 3 484 c.429C>T c.(427-429)tcC>tcT p.S143S KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron NM_001018081 NP_001018091 Q8NHK4 Q8NHK4_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA. 143 receptor activity TGACCTTGTCCTGCAGCTCCA 0.577000 15 25 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 82996972 82996972 + Missense_Mutation SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:82996972T>C uc003uhy.2 - 16 2879 c.2258A>G c.(2257-2259)aAc>aGc p.N753S SEMA3E_uc022agy.1_Missense_Mutation_p.N693S NM_012431 NP_001171600 O15041 SEM3E_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA. 753 Arg/Lys-rich (basic). axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TTCCTGAGGGTTGGCATACTT 0.483000 118 62 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103120101 103120101 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:103120101C>T uc002tbz.4 + 2 1372 c.915C>T c.(913-915)atC>atT p.I305I NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 305 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 AGCCACTCATCGTCTTCATGT 0.428000 38 31 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82875940 82875940 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:82875940G>A uc003kii.3 + 13 10378 c.10022G>A c.(10021-10023)gGa>gAa p.G3341E VCAN_uc003kij.3_Missense_Mutation_p.G2354E|VCAN_uc010jau.2_Missense_Mutation_p.G1587E|VCAN_uc003kik.3_Missense_Mutation_p.G600E|VCAN_uc003kil.3_Missense_Mutation_p.G2005E NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 3341 Sushi. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CGGTGCTTAGGAAATGGAAGA 0.408000 55 35 0 0 1 0 0 AP2B1 163 broad.mit.edu 37 17 33935215 33935215 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:33935215T>A uc002hjr.3 + 4 523 c.334T>A c.(334-336)Tgc>Agc p.C112S AP2B1_uc002hjq.3_Missense_Mutation_p.C112S|AP2B1_uc010wci.2_Intron|AP2B1_uc002hjs.3_Missense_Mutation_p.C55S|AP2B1_uc002hjt.3_Missense_Mutation_p.C112S|AP2B1_uc010ctv.3_Missense_Mutation_p.C112S NM_001282 NP_001273 P63010 AP2B1_HUMAN Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA. 112 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) AACCATGGGGTGCATCCGGGT 0.478000 37 13 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12656204 12656204 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:12656204G>A uc002gno.2 + 9 1898 c.1599G>A c.(1597-1599)tgG>tgA p.W533* MYOCD_uc002gnn.2_Nonsense_Mutation_p.W533*|MYOCD_uc002gnp.1_Nonsense_Mutation_p.W437*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.W252* NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 533 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) AACTCACCTGGAAACTCCAGC 0.537000 25 19 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40122212 40122212 + Missense_Mutation SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:40122212T>C uc002xka.1 - 9 1458 c.1280A>G c.(1279-1281)gAa>gGa p.E427G CHD6_uc002xkd.2_Missense_Mutation_p.E405G NM_032221 NP_115597 Q8TD26 CHD6_HUMAN Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA. 427 Chromo 2. 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) TTGAAGAGATTCAAATTCTTT 0.398000 55 28 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73809191 73809191 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:73809191G>A uc001ouu.2 - 15 3069 c.2842C>T c.(2842-2844)Cga>Tga p.R948* NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA. 948 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) AAAAAGACTCGAAGACTCCCA 0.473000 47 22 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135496364 135496364 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:135496364G>A uc004ezu.1 + 24 9374 c.9083G>A c.(9082-9084)gGa>gAa p.G3028E GPR112_uc010nsb.1_Missense_Mutation_p.G2823E NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 3028 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AAACAGGAGGGACTAAAGAAA 0.388000 14 40 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180048130 180048130 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:180048130C>T uc003mlz.4 - 13 2222 c.2143G>A c.(2143-2145)Gag>Aag p.E715K FLT4_uc003mma.4_Missense_Mutation_p.E715K|FLT4_uc003mmb.1_Missense_Mutation_p.E248K|FLT4_uc011dgy.2_Missense_Mutation_p.E715K NM_182925 NP_891555 P35916 VGFR3_HUMAN Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA. 715 Ig-like C2-type 7. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) AGCAGCCTCTCGTCTTTGTAC 0.657000 31 17 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153699493 153699493 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:153699493C>T uc004flm.3 + 30 5375 c.5202C>T c.(5200-5202)ttC>ttT p.F1734F NM_017514 NP_059984 P51805 PLXA3_HUMAN Homo sapiens plexin A3 (PLXNA3), mRNA. 1734 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) ACCCGCAGTTCGTGTTCGACA 0.607000 16 52 0 0 1 0 0 SH3GL2 6456 broad.mit.edu 37 9 17795682 17795682 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:17795682G>A uc003zna.3 + 8 1288 c.1000G>A c.(1000-1002)Ggc>Agc p.G334S SH3GL2_uc011lmy.2_Missense_Mutation_p.G287S NM_003026 NP_003017 Q99962 SH3G2_HUMAN Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA. 334 SH3. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport Golgi membrane|cytosol|plasma membrane identical protein binding|lipid binding p.G334C(2) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) GATGCTGCATGGCCATTCAGG 0.478000 29 11 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178528653 178528653 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:178528653C>T uc002ulq.3 - 18 2905 c.2587G>A c.(2587-2589)Gat>Aat p.D863N PDE11A_uc002ulp.3_Missense_Mutation_p.D419N|PDE11A_uc002ulr.3_Missense_Mutation_p.D613N|PDE11A_uc010zfd.2_Missense_Mutation_p.D54N|PDE11A_uc002uls.1_Missense_Mutation_p.D505N|PDE11A_uc002ult.1_Missense_Mutation_p.D613N|PDE11A_uc002ulu.1_Missense_Mutation_p.D505N NM_016953 NP_001070664 Q9HCR9 PDE11_HUMAN Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA. 863 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GGCAGTTCATCCTTCCGGTTC 0.453000 Primary Pigmented Nodular Adrenocortical Disease, Familial 39 14 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81624882 81624882 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:81624882G>A uc001szl.1 + 11 1652 c.1561G>A c.(1561-1563)Gaa>Aaa p.E521K ACSS3_uc001szm.1_Missense_Mutation_p.E520K|ACSS3_uc001szn.1_Missense_Mutation_p.E203K NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 521 mitochondrion ATP binding|acetate-CoA ligase activity p.Q520H(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GAAGAATCAGGAAGCATTCAA 0.303000 18 6 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873549 36873549 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:36873549C>T uc003cgj.3 - 20 7641 c.7393G>A c.(7393-7395)Gaa>Aaa p.E2465K NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2465 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GGTTTGTATTCCTGAATGATG 0.483000 43 32 0 0 1 0 0 OR5B3 441608 broad.mit.edu 37 11 58170735 58170735 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:58170735C>T uc010rkf.2 - 0 148 c.148G>A c.(148-150)Gat>Aat p.D50N NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA. 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGACAGGAATCCCAGAATATC 0.423000 43 28 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47608985 47608985 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:47608985C>T uc001cqv.1 + 4 606 c.555C>T c.(553-555)gtC>gtT p.V185V CYP4A22_uc009vyo.3_Silent_p.V185V|CYP4A22_uc009vyp.3_Silent_p.V185V NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA. 185 V -> F (in allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15). endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding p.V185V(2) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTCTGGAGGTCTTTCAGCACG 0.542000 27 14 0 0 1 0 0 APC2 10297 broad.mit.edu 37 19 1461050 1461050 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:1461050C>T uc002lsr.1 + 12 1744 c.1536C>T c.(1534-1536)atC>atT p.I512I APC2_uc002lss.1_Silent_p.I94I|APC2_uc002lst.1_Silent_p.I512I|APC2_uc002lsu.1_Silent_p.I511I NM_005883 NP_005874 O95996 APC2_HUMAN Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA. 512 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding p.I512V(1) breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) TGTCCAGCATCCTTCGGAACT 0.637000 77 64 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53612104 53612104 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:53612104G>A uc002qax.3 - 6 1687 c.1338C>T c.(1336-1338)agC>agT p.S446S ZNF415_uc010yds.2_Silent_p.S398S|ZNF415_uc010ydt.2_Silent_p.S398S|ZNF415_uc002qau.3_Silent_p.S385S|ZNF415_uc002qav.3_Silent_p.S410S|ZNF415_uc002qaw.3_Silent_p.S398S|ZNF415_uc002qay.3_Silent_p.S385S|ZNF415_uc002qaz.3_Silent_p.S446S|ZNF415_uc002qba.3_Silent_p.S168S Q09FC8 ZN415_HUMAN Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA. 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) GCCTTGCAAGGCTTGAAGTCT 0.418000 41 21 0 0 1 0 0 RNF150 57484 broad.mit.edu 37 4 142053639 142053639 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:142053639G>A uc003iio.1 - 0 978 c.324C>T c.(322-324)ttC>ttT p.F108F RNF150_uc010iok.1_Silent_p.F108F|RNF150_uc003iip.1_Silent_p.F108F NM_020724 NP_065775 Q9ULK6 RN150_HUMAN Homo sapiens ring finger protein 150 (RNF150), mRNA. 108 PA. integral to membrane zinc ion binding p.N108K(1) breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) TCGGGGCGGCGAACTTGGTGT 0.672000 8 6 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29754757 29754757 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:29754757G>A uc003afj.3 - 4 670 c.483C>T c.(481-483)ttC>ttT p.F161F AP1B1_uc003afl.3_Silent_p.F161F|AP1B1_uc003afi.3_Silent_p.F161F NM_001127 NP_001118 Q10567 AP1B1_HUMAN Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA. 161 endocytosis|intracellular protein transport|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|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GGGTGTCCAGGAAGCCCTGGT 0.592000 84 15 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131812737 131812737 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:131812737C>T uc003ytd.4 - 14 3251 c.2995G>A c.(2995-2997)Gaa>Aaa p.E999K ADCY8_uc010mds.3_Missense_Mutation_p.E868K NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 999 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTATTCATTTCAGTCTGAGAG 0.448000 HNSCC(32;0.087) 34 103 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23871893 23871893 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:23871893A>G uc003sws.4 + 23 3035 c.2968A>G c.(2968-2970)Acc>Gcc p.T990A STK31_uc003swt.4_Missense_Mutation_p.T967A|STK31_uc011jze.2_Missense_Mutation_p.T967A|STK31_uc010kuq.3_Missense_Mutation_p.T967A|STK31_uc003swv.1_Missense_Mutation_p.T156A NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 990 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TACTGAATACACCCTATATAA 0.328000 63 12 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58299357 58299357 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:58299357G>A uc001vhq.1 + 3 4301 c.3409G>A c.(3409-3411)Gaa>Aaa p.E1137K PCDH17_uc010aec.1_Missense_Mutation_p.E1136K|PCDH17_uc001vhr.1_Missense_Mutation_p.E226K NM_001040429 NP_001035519 O14917 PCD17_HUMAN Homo sapiens protocadherin 17 (PCDH17), mRNA. 1137 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GGATGCAGAGGAAGTTGTGAG 0.493000 156 76 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269947 150269947 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:150269947C>T uc003whl.3 + 2 871 c.789C>T c.(787-789)atC>atT p.I263I GIMAP4_uc011kuu.2_Silent_p.I124I|GIMAP4_uc011kuv.2_Silent_p.I277I NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 263 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGAGAAAATCAGAAAGCTGG 0.463000 24 4 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413476 178413476 + Silent SNP G A A rs75667861 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:178413476G>A uc003mjr.3 - 7 1958 c.1779C>T c.(1777-1779)gcC>gcT p.A593A GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Silent_p.A176A|GRM6_uc003mjs.1_Silent_p.A213A NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 593 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TGCCCAGCACGGCCAGGAGGA 0.711000 15 5 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81833809 81833809 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:81833809C>T uc001szo.2 - 6 748 c.587G>A c.(586-588)aGg>aAg p.R196K PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.R122K|PPFIA2_uc021rbh.1_Intron|PPFIA2_uc021rbi.1_Missense_Mutation_p.R196K|PPFIA2_uc021rbj.1_Missense_Mutation_p.R196K|PPFIA2_uc021rbk.1_Missense_Mutation_p.R178K|PPFIA2_uc021rbl.1_Missense_Mutation_p.R196K|PPFIA2_uc010sue.2_Missense_Mutation_p.R96K NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 122 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TAAAGAAACCCTCAGTCGCTC 0.408000 36 21 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51135641 51135641 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:51135641C>T uc002pst.3 - 1 1210 c.576G>A c.(574-576)ggG>ggA p.G192G SYT3_uc002psv.3_Silent_p.G192G|SYT3_uc010ycd.2_Silent_p.G192G NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA. 192 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.G192W(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) AGCCTGCTCCCCCCTCAGAGG 0.642000 28 11 0 0 1 0 0 ECI2 10455 broad.mit.edu 37 6 4131033 4131033 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:4131033C>T uc003mwf.3 - 2 317 c.280G>A c.(280-282)Gac>Aac p.D94N ECI2_uc021yku.1_Missense_Mutation_p.D64N|ECI2_uc003mwc.3_5'UTR|ECI2_uc003mwd.3_Missense_Mutation_p.D64N|ECI2_uc003mwe.3_5'UTR|ECI2_uc010jnr.1_Non-coding_Transcript NM_206836 NP_996667 O75521 ECI2_HUMAN Homo sapiens enoyl-CoA delta isomerase 2 (ECI2), transcript variant 2, mRNA. 94 ACB. fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 11 TTCCATGCGTCCCATTTGGCC 0.448000 206 60 0 0 1 0 0 CPSF6 11052 broad.mit.edu 37 12 69651668 69651668 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:69651668C>T uc001sut.4 + 4 787 c.677C>T c.(676-678)cCa>cTa p.P226L CPSF6_uc001suu.4_Missense_Mutation_p.P226L|CPSF6_uc010stk.2_5'Flank NM_007007 NP_008938 Q16630 CPSF6_HUMAN Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA. 226 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) CCAGGAGGGCCACCCCCACCT 0.488000 35 21 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7011475 7011475 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:7011475T>A uc002knm.3 - 24 3605 c.3511A>T c.(3511-3513)Acg>Tcg p.T1171S LAMA1_uc010wzj.2_Missense_Mutation_p.T647S NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 1171 Laminin IV type A 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGCCCAGCGTTACCTAAACC 0.502000 3 3 0 0 1 0 0 HDAC11 79885 broad.mit.edu 37 3 13545678 13545678 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:13545678C>T uc003bxy.3 + 8 867 c.734C>T c.(733-735)tCc>tTc p.S245F HDAC11_uc010heb.3_Missense_Mutation_p.P203S|HDAC11_uc011aux.2_Missense_Mutation_p.S53F|HDAC11_uc011auy.2_Missense_Mutation_p.S194F NM_024827 NP_079103 Q96DB2 HDA11_HUMAN Homo sapiens histone deacetylase 11 (HDAC11), transcript variant 1, mRNA. 245 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|transcription factor binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 ATCAAGAAATCCCTCCAGGAG 0.602000 32 25 0 0 1 0 0 KRT17 3872 broad.mit.edu 37 17 39777124 39777124 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:39777124G>A uc002hxh.2 - 5 1089 c.968C>T c.(967-969)tCc>tTc p.S323F JUP_uc010wfs.2_Intron NM_000422 NP_000413 Q04695 K1C17_HUMAN Homo sapiens keratin 17 (KRT17), mRNA. 323 Coil 2.|Rod. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Breast(137;0.000307) GCCCTCCAGGGATGCTTTCTG 0.622000 29 26 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84539574 84539574 + Missense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:84539574C>G uc002bjz.4 + 8 1047 c.823C>G c.(823-825)Caa>Gaa p.Q275E ADAMTSL3_uc010bmt.1_Missense_Mutation_p.Q275E NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 275 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) AAAAACACTTCAAGGAAGCAA 0.333000 20 8 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94120290 94120290 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:94120290G>A uc001ybv.1 + 35 5936 c.5853G>A c.(5851-5853)ggG>ggA p.G1951G UNC79_uc001ybs.1_Silent_p.G1929G NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 2106 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TTCCAGATGGGACTTTTTTAC 0.483000 111 54 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50339806 50339806 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:50339806C>T uc004dpe.2 - 8 4397 c.4371G>A c.(4369-4371)atG>atA p.M1457I SHROOM4_uc004dpd.3_Non-coding_Transcript NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA. 1457 ASD2. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GAGCAGATTTCATCTTGACAA 0.542000 5 12 0 0 1 0 0 SLA2 84174 broad.mit.edu 37 20 35262980 35262980 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:35262980G>A uc002xfv.3 - 2 527 c.104C>T c.(103-105)gCc>gTc p.A35V SLA2_uc002xfu.3_Missense_Mutation_p.A35V NM_032214 NP_115590 Q9H6Q3 SLAP2_HUMAN Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA. 35 SH3. B cell mediated immunity|T cell activation|antigen receptor-mediated signaling pathway|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane SH3/SH2 adaptor activity|protein N-terminus binding endometrium(1)|lung(2)|skin(2) 5 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) CACGGCTGTGGCCTTGCTTCT 0.612000 14 5 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149937753 149937753 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:149937753G>A uc001etn.3 - 4 909 c.553C>T c.(553-555)Cct>Tct p.P185S OTUD7B_uc001eto.3_Missense_Mutation_p.P106S NM_020205 NP_064590 Q6GQQ9 OTU7B_HUMAN Homo sapiens OTU domain containing 7B (OTUD7B), mRNA. 185 Catalytic.|OTU.|TRAF-binding. negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) GTTGCCAAAGGAAGCAGCCTC 0.517000 24 13 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960802 73960802 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:73960802C>T uc004eby.3 - 2 4207 c.3590G>A c.(3589-3591)aGg>aAg p.R1197K NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 1197 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GGATTTTTTCCTGGTGTTTTT 0.428000 10 26 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 306005 306005 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:306005C>T uc001qhz.3 - 11 1783 c.1119G>A c.(1117-1119)atG>atA p.M373I SLC6A12_uc001qhy.3_Intron|SLC6A12_uc001qia.3_Missense_Mutation_p.M373I|SLC6A12_uc001qib.3_Missense_Mutation_p.M373I|SLC6A12_uc009zdh.2_Missense_Mutation_p.M373I NM_003044 NP_003035 P48065 S6A12_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA. 373 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) ATAAGGGCATCATAGTCACAG 0.607000 82 27 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21124449 21124449 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:21124449G>A uc002kum.4 - 12 2263 c.1989C>T c.(1987-1989)atC>atT p.I663I NPC1_uc010xaz.2_Silent_p.I396I|NPC1_uc010xba.1_Silent_p.I508I NM_000271 NP_000262 O15118 NPC1_HUMAN Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. 663 SSD. autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity p.I663I(2) breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGCTCAGCACGATCAAGATGC 0.532000 52 25 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53639397 53639397 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:53639397G>A uc002ehp.3 - 25 3895 c.3831C>T c.(3829-3831)atC>atT p.I1277I RPGRIP1L_uc002eho.4_Silent_p.I1197I|RPGRIP1L_uc010vgy.2_Silent_p.I1231I|RPGRIP1L_uc010cbx.3_Silent_p.I1243I|RPGRIP1L_uc010vgz.1_Silent_p.I1231I NM_015272 NP_056087 Q68CZ1 FTM_HUMAN Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA. 1277 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) CCATACCATCGATATTTTGCT 0.493000 71 44 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123758578 123758578 + Splice_Site SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:123758578G>A uc004bkv.3 - 22 2821 c.2791_splice c.e22-1 p.P931_splice NM_001735 NP_001726 P01031 CO5_HUMAN Homo sapiens complement component 5 (C5), mRNA. 931 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) ACACCTTCTGGCTAAAATAAA 0.313000 93 52 0 0 1 0 0 RAB3D 9545 broad.mit.edu 37 19 11448055 11448055 + Silent SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:11448055G>T uc002mqx.3 - 1 282 c.21C>A c.(19-21)acC>acA p.T7T NM_004283 NP_004274 O95716 RAB3D_HUMAN Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA. 7 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2) 14 GGCCTGCCTGGGTGTCTCCAG 0.552000 80 43 5.82388e-19 5.90684e-19 1 1 0 TTN 7273 broad.mit.edu 37 2 179442623 179442623 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179442623G>A uc021vsy.1 - 271 61051 c.60826C>T c.(60826-60828)Cct>Tct p.P20276S MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P13971S|TTN_uc021vta.1_Missense_Mutation_p.P13904S|TTN_uc021vtb.1_Missense_Mutation_p.P13779S|AX746670_uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21203 Ig-like 111. 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) TTTCCAGGAGGATCTAAAACA 0.348000 14 10 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558339 106558339 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:106558339G>A uc009yxn.1 - 8 2618 c.2228C>T c.(2227-2229)tCg>tTg p.S743L GUCY1A2_uc001pjg.1_Missense_Mutation_p.S712L|GUCY1A2_uc010rvo.1_Missense_Mutation_p.S733L NM_000855 NP_000846 P33402 GCYA2_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA. 712 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.S712L(1) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TATTCTCGACGAAGAAAGAGA 0.478000 54 30 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576999 158576999 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:158576999C>T uc010pio.2 + 0 771 c.771C>T c.(769-771)ttC>ttT p.F257F NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GTGCTTCCTTCGTGTACCTGA 0.493000 118 53 0 0 1 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48809359 48809359 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:48809359C>T uc002rwp.2 + 1 1701 c.1587C>T c.(1585-1587)tcC>tcT p.S529S STON1-GTF2A1L_uc021vhf.1_Silent_p.S529S|STON1-GTF2A1L_uc002rwo.4_Silent_p.S529S|STON1-GTF2A1L_uc010fbm.3_Silent_p.S529S|STON1-GTF2A1L_uc010yol.2_Silent_p.S529S NM_172311 NP_758515 B7ZL16 B7ZL16_HUMAN Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. 529 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTCCCTTTTCCTTGAAGTCTG 0.453000 56 29 0 0 1 0 0 KCNK16 83795 broad.mit.edu 37 6 39286823 39286823 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:39286823G>A uc003oor.4 - 1 314 c.300C>T c.(298-300)ttC>ttT p.F100F KCNK16_uc003ooq.3_Silent_p.F100F|KCNK16_uc010jwy.3_Silent_p.F100F|KCNK16_uc011dtz.1_Silent_p.F100F NM_001135105 NP_001128577 Q96T55 KCNKG_HUMAN Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA. 100 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 TGCCTGCAAAGAAGAAACTGC 0.547000 75 10 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57069988 57069988 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:57069988C>T uc001njr.3 - 5 4940 c.4628G>A c.(4627-4629)cGa>cAa p.R1543Q TNKS1BP1_uc001njq.3_Missense_Mutation_p.R115Q|TNKS1BP1_uc001njs.3_Missense_Mutation_p.R1543Q NM_033396 NP_203754 Q9C0C2 TB182_HUMAN Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA. 1543 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.R1542Q(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) TTGGGAGGGTCGCCGAGAAGT 0.632000 14 7 0 0 1 0 0 STAT5A 6776 broad.mit.edu 37 17 40447666 40447666 + Missense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:40447666C>G uc002hzj.2 + 5 1047 c.405C>G c.(403-405)gaC>gaG p.D135E STAT5A_uc010cya.2_Missense_Mutation_p.D135E|STAT5A_uc010cyb.2_Missense_Mutation_p.D135E|STAT5A_uc010cyc.2_Missense_Mutation_p.D105E NM_003152 NP_003143 P42229 STA5A_HUMAN Homo sapiens signal transducer and activator of transcription 5A (STAT5A), mRNA. 135 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) TCCTGGTTGACGCCATGTCCC 0.532000 12 12 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35729315 35729315 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:35729315G>A uc011axy.2 + 4 558 c.346G>A c.(346-348)Gaa>Aaa p.E116K ARPP21_uc003cga.3_Missense_Mutation_p.E116K|ARPP21_uc003cgb.3_Missense_Mutation_p.E116K|ARPP21_uc003cgf.3_5'Flank NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA. 116 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 AAGAGAAAAAGAAAAGGATAA 0.338000 54 25 0 0 1 0 0 SFI1 9814 broad.mit.edu 37 22 32011172 32011172 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:32011172C>T uc003ale.3 + 28 3600 c.3207C>T c.(3205-3207)ggC>ggT p.G1069G SFI1_uc003alf.3_Silent_p.G1038G|SFI1_uc003alg.3_Silent_p.G987G|SFI1_uc011alp.2_Silent_p.G975G|SFI1_uc011alq.2_Silent_p.G1014G|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript|SFI1_uc003ali.3_Silent_p.G161G|SFI1_uc003alj.3_Silent_p.G203G NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA. 1069 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 GCGCCCCTGGCCCGAAGCAGC 0.721000 22 9 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209163498 209163498 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:209163498C>T uc002vcz.3 + 7 1203 c.1045C>T c.(1045-1047)Ctt>Ttt p.L349F PIKFYVE_uc010fun.1_Missense_Mutation_p.L30F|PIKFYVE_uc002vcy.1_Missense_Mutation_p.L349F|PIKFYVE_uc002vcw.3_Missense_Mutation_p.L349F|PIKFYVE_uc002vcv.3_Missense_Mutation_p.L252F|PIKFYVE_uc002vcx.3_Missense_Mutation_p.L263F NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 349 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 ACGCAAAATTCTTCTGGTACT 0.423000 30 16 0 0 1 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934819 113934819 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:113934819G>A uc001pop.3 + 1 1061 c.797G>A c.(796-798)gGa>gAa p.G266E ZBTB16_uc001poo.1_Missense_Mutation_p.G266E|ZBTB16_uc001poq.3_Missense_Mutation_p.G266E NM_006006 NP_005997 Q05516 ZBT16_HUMAN Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA. 266 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent PML body|nuclear speck|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) AGCATCTCAGGAGGGATGGGG 0.637000 17 7 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52854939 52854939 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:52854939G>A uc001ctt.3 - 6 1368 c.1137C>T c.(1135-1137)atC>atT p.I379I ORC1_uc010oni.2_Silent_p.I379I|ORC1_uc001ctu.3_Silent_p.I379I NM_004153 NP_004144 Q13415 ORC1_HUMAN Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA. 379 DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TCTTTCTGCGGATACGATGGG 0.488000 53 33 0 0 1 0 0 MTHFD2L 441024 broad.mit.edu 37 4 75065573 75065573 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:75065573C>T uc011cbk.2 + 3 541 c.514C>T c.(514-516)Cat>Tat p.H172Y MTHFD2L_uc011cbj.2_Missense_Mutation_p.H114Y|MTHFD2L_uc003hhn.1_Missense_Mutation_p.H114Y NM_001144978 NP_001138450 Q9H903 MTD2L_HUMAN Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA. 114 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) AGATGGATTTCATATTATCAA 0.338000 64 31 0 0 1 0 0 FRG2B 441581 broad.mit.edu 37 10 135440175 135440175 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:135440175G>A uc010qvg.2 - 0 125 c.72C>T c.(70-72)ttC>ttT p.F24F NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA. 24 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) AGATCTGTTGGAAAGGGGGCT 0.493000 147 15 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36018411 36018411 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:36018411C>T uc002oad.2 - 0 843 c.773G>A c.(772-774)gGg>gAg p.G258E SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron NM_001166034 NP_001159506 Q6UWP8 SBSN_HUMAN Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA. 131 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCCAAATCTCCCTGCCTCATT 0.632000 5 3 0 0 1 0 0 STUB1 10273 broad.mit.edu 37 16 731277 731277 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:731277G>A uc002cit.3 + 1 696 c.285G>A c.(283-285)aaG>aaA p.K95K STUB1_uc002ciu.3_Silent_p.K23K NM_005861 NP_005852 Q9UNE7 CHIP_HUMAN Homo sapiens STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase (STUB1), mRNA. 95 DNA repair|cellular response to misfolded protein|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein autoubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|SMAD binding|TPR domain binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|ubiquitin-ubiquitin ligase activity endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 Hepatocellular(780;0.00335) AGTCTGTGAAGGCGCACTTCT 0.632000 21 7 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76243179 76243179 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:76243179C>T uc010ask.2 + 23 2690 c.2415C>T c.(2413-2415)ttC>ttT p.F805F TTLL5_uc001xrx.3_Silent_p.F791F|TTLL5_uc001xrz.3_Silent_p.F366F|TTLL5_uc001xry.1_Non-coding_Transcript NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA. 791 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) TTCAGGAGTTCATCAGACAAG 0.388000 51 29 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590534 156590534 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:156590534C>T uc003lwn.3 - 1 842 c.742G>A c.(742-744)Gct>Act p.A248T NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 248 Ala-rich. nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATGGAGAAGCCGCACTAGCC 0.582000 42 29 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108135770 108135770 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:108135770G>A uc003dxa.1 - 29 3954 c.3897C>T c.(3895-3897)ttC>ttT p.F1299F NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1299 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCCTCCGTAGGAACTCGCCTA 0.443000 41 20 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043428 56043428 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:56043428C>T uc001nio.1 + 0 314 c.314C>T c.(313-315)tCa>tTa p.S105L NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA. 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) AAATCTATTTCATTTCTTGGA 0.368000 78 33 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209800749 209800749 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:209800749G>A uc001hhg.3 - 10 1854 c.1464C>T c.(1462-1464)tcC>tcT p.S488S LAMB3_uc009xco.3_Silent_p.S488S|LAMB3_uc001hhh.3_Silent_p.S488S|LAMB3_uc010psl.1_Non-coding_Transcript NM_001017402 NP_001121113 Q13751 LAMB3_HUMAN Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA. 488 Laminin EGF-like 5. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GTGGGCTGAGGGAGTTGTGCG 0.657000 OREG0014217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 25 0 0 1 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142180622 142180622 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142180622G>A uc011krz.2 - 1 286 c.237C>T c.(235-237)gtC>gtT p.V79V TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Silent_p.V79V|BV13S6J2.1_uc022anl.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; AGCCATTGGGGACTTCTCCTT 0.527000 364 83 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63937265 63937265 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:63937265G>A uc002amp.3 - 56 11258 c.11110C>T c.(11110-11112)Cgc>Tgc p.R3704C NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 3704 protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TGAGGAATGCGCCAAACACAT 0.383000 83 55 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32037545 32037545 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:32037545G>A uc003nzl.2 - 14 5574 c.5372C>T c.(5371-5373)tCc>tTc p.S1791F NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1873 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.S1878F(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GAGGCCCACGGAGTTCTGGGT 0.617000 24 11 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 87967415 87967415 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:87967415C>T uc011ccz.2 + 2 411 c.136C>T c.(136-138)Ccc>Tcc p.P46S AFF1_uc011ccx.2_Intron|AFF1_uc003hqh.2_Missense_Mutation_p.P46S|AFF1_uc011ccy.2_Missense_Mutation_p.P46S|AFF1_uc003hqj.4_Missense_Mutation_p.P39S|AFF1_uc003hqk.4_Missense_Mutation_p.P39S|AFF1_uc011cda.2_Intron NM_001166693 NP_001160165 P51825 AFF1_HUMAN Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA. 39 K -> R (in Ref. 2; AAA36642). nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TGAAAAGATTCCCCTTTTTGG 0.403000 110 46 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156643314 156643314 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:156643314G>A uc003iov.3 + 9 2377 c.1841G>A c.(1840-1842)cGa>cAa p.R614Q GUCY1A3_uc010iqc.2_Missense_Mutation_p.R614Q|GUCY1A3_uc010iqd.3_Missense_Mutation_p.R613Q|GUCY1A3_uc003iow.3_Missense_Mutation_p.R614Q|GUCY1A3_uc003iox.3_Missense_Mutation_p.R614Q|GUCY1A3_uc010iqe.3_Missense_Mutation_p.R379Q|GUCY1A3_uc003ioy.3_Missense_Mutation_p.R614Q|GUCY1A3_uc003ioz.3_Missense_Mutation_p.R379Q|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.R614Q NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 614 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) AGTGTACCACGAAAAATCAAT 0.378000 49 34 0 0 1 0 0 CYTH1 9267 broad.mit.edu 37 17 76676406 76676406 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:76676406G>A uc021ueg.1 - 11 1055 c.984C>T c.(982-984)atC>atT p.I328I CYTH1_uc010wtv.2_Non-coding_Transcript|CYTH1_uc002jvw.3_Silent_p.I327I NM_004762 NP_004753 Q15438 CYH1_HUMAN Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA. 328 PH. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 TATTGTCGGGGATATAAAGCT 0.498000 23 15 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52860887 52860887 + Nonsense_Mutation SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:52860887C>A uc011bem.2 - 3 467 c.439G>T c.(439-441)Gag>Tag p.E147* ITIH4_uc011bel.2_5'Flank|ITIH4_uc003dfy.3_Nonsense_Mutation_p.E23*|ITIH4_uc003dfz.3_Nonsense_Mutation_p.E147*|ITIH4_uc011ben.2_Nonsense_Mutation_p.E147* NM_002218 NP_002209 Q14624 ITIH4_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA. 147 VIT. acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) AGCAGCTCCTCATAGACCAGC 0.602000 34 26 3.1745e-13 3.21183e-13 1 1 0 ITIH6 347365 broad.mit.edu 37 X 54776409 54776409 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:54776409G>A uc004dtj.2 - 12 3891 c.3861C>T c.(3859-3861)ccC>ccT p.P1287P NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA. 1287 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity AAGCCCAGCGGGGCAGCAGCC 0.582000 7 10 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20521064 20521064 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:20521064C>T uc003gpr.1 + 11 1322 c.1118C>T c.(1117-1119)tCc>tTc p.S373F SLIT2_uc003gps.1_Missense_Mutation_p.S373F NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 373 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GGACTGTTTTCCTTACAGCTC 0.313000 32 9 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78369279 78369279 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:78369279C>T uc001ozl.4 - 33 8597 c.8134G>A c.(8134-8136)Gaa>Aaa p.E2712K ODZ4_uc001ozk.4_Missense_Mutation_p.E937K NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 2712 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 TCCTCCCCTTCCCGCAGTCTC 0.662000 22 12 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62038120 62038120 + Silent SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:62038120G>C uc002yey.1 - 16 2673 c.2496C>G c.(2494-2496)ccC>ccG p.P832P KCNQ2_uc002yez.1_Silent_p.P801P|KCNQ2_uc002yfa.1_Silent_p.P814P|KCNQ2_uc002yfb.1_Silent_p.P804P NM_172107 NP_742105 O43526 KCNQ2_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA. 832 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CCGCAATGTAGGGCCTGACTT 0.652000 20 8 0 0 1 0 0 NUMBL 9253 broad.mit.edu 37 19 41174000 41174000 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:41174000G>A uc002oon.3 - 9 1371 c.1203C>T c.(1201-1203)gcC>gcT p.A401A NUMBL_uc010xvq.2_Silent_p.A360A|NUMBL_uc010xvr.2_Silent_p.A360A|NUMBL_uc002ooo.3_Silent_p.A400A NM_004756 NP_004747 Q9Y6R0 NUMBL_HUMAN Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA. 401 cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) CAGGCTGGAAGGCAGCTGCAG 0.657000 5 3 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043970 74043970 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:74043970G>A uc002sjr.1 + 2 2741 c.2620G>A c.(2620-2622)Gag>Aag p.E874K NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA. 874 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 CATCACAGAAGAGCAGAGGCC 0.493000 23 12 0 0 1 0 0 FAM105A 54491 broad.mit.edu 37 5 14602410 14602410 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:14602410C>T uc003jfj.3 + 4 580 c.467C>T c.(466-468)cCa>cTa p.P156L NM_019018 NP_061891 Q9NUU6 F105A_HUMAN Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA. 156 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) ATCTCTTTTCCATCATGGATG 0.408000 39 22 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164029 139164029 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:139164029G>A uc003yuy.3 - 12 2860 c.2689C>T c.(2689-2691)Cat>Tat p.H897Y FAM135B_uc003yux.3_Missense_Mutation_p.H798Y|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.H459Y|FAM135B_uc003yvb.3_Missense_Mutation_p.H459Y NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 897 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGTGCTCTATGAAGAGATCTG 0.473000 HNSCC(54;0.14) 26 85 0 0 1 0 0 SLC26A10 65012 broad.mit.edu 37 12 58016672 58016672 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:58016672C>T uc001spe.3 + 5 1205 c.894C>T c.(892-894)gcC>gcT p.A298A SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank NM_133489 NP_597996 Q8NG04 S2610_HUMAN Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA. 298 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) CCTCCCTGGCCTCCATCCATG 0.562000 36 21 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71510382 71510382 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:71510382G>A uc011caw.1 + 8 3520 c.3239G>A c.(3238-3240)aGc>aAc p.S1080N NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 1080 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) GGAAGGCAAAGCCCATTTGAT 0.423000 57 30 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116339542 116339542 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:116339542G>A uc003vij.3 + 1 591 c.404G>A c.(403-405)aGc>aAc p.S135N MET_uc022akk.1_Missense_Mutation_p.S135N|MET_uc010lkh.3_Missense_Mutation_p.S135N|MET_uc011knc.1_Missense_Mutation_p.S135N|MET_uc011knd.2_Missense_Mutation_p.S135N|MET_uc011knf.2_Missense_Mutation_p.S135N|MET_uc011kne.2_Missense_Mutation_p.S135N|MET_uc011kng.1_Missense_Mutation_p.S135N|MET_uc011knh.1_Missense_Mutation_p.S135N|MET_uc011kni.2_Missense_Mutation_p.S135N|MET_uc003vii.1_Missense_Mutation_p.S154N|MET_uc010lkg.3_Missense_Mutation_p.S135N|MET_uc011kmz.1_Missense_Mutation_p.S135N|MET_uc011kna.1_Missense_Mutation_p.S135N|MET_uc011knb.1_Missense_Mutation_p.S135N NM_000245 NP_000236 P08581 MET_HUMAN Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA. 135 Sema. 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) AGCTGTGGCAGCGTCAACAGA 0.468000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 200 53 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167810336 167810336 + Silent SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:167810336T>C uc011cjq.1 - 4 627 c.570A>G c.(568-570)ggA>ggG p.G190G SPOCK3_uc021xuf.1_Silent_p.G181G|SPOCK3_uc011cjr.1_Silent_p.G61G|SPOCK3_uc003iri.1_Silent_p.G181G|SPOCK3_uc011cjs.1_Silent_p.G130G|SPOCK3_uc003irj.1_Silent_p.G178G|SPOCK3_uc011cjt.1_Silent_p.G89G|SPOCK3_uc011cjp.2_Silent_p.G178G|SPOCK3_uc011cju.1_Silent_p.G85G|SPOCK3_uc011cjv.1_Silent_p.G83G|SPOCK3_uc003irk.4_Silent_p.G178G|SPOCK3_uc011cjw.1_Non-coding_Transcript NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 181 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) ATGGGCAATGTCCTTCACATT 0.333000 66 32 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92365156 92365156 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:92365156G>A uc003yez.3 + 10 1485 c.1246G>A c.(1246-1248)Gga>Aga p.G416R SLC26A7_uc003yex.3_Missense_Mutation_p.G416R|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.G416R NM_134266 NP_599028 Q8TE54 S26A7_HUMAN Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA. 416 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TATTGTTGTGGGACTGAAGGG 0.313000 23 115 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23203765 23203765 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:23203765C>T uc002dlm.1 + 3 850 c.711C>T c.(709-711)atC>atT p.I237I NM_001039 NP_001030 P51170 SCNNG_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA. 237 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane WW domain binding|ligand-gated sodium channel activity NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) ACATGAACATCATGGCACAGG 0.493000 53 29 0 0 1 0 0 FAM155B 27112 broad.mit.edu 37 X 68725644 68725644 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:68725644C>T uc004dxk.3 + 0 567 c.519C>T c.(517-519)tcC>tcT p.S173S NM_015686 NP_056501 O75949 F155B_HUMAN Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA. 173 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 ACTCCCTTTCCCGTGCCCCGG 0.587000 8 19 0 0 1 0 0 AHSG 197 broad.mit.edu 37 3 186338525 186338525 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:186338525C>T uc003fqk.4 + 6 991 c.910C>T c.(910-912)Cct>Tct p.P304S NM_001622 NP_001613 P02765 FETUA_HUMAN Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA. 304 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) ACTGGCAGCTCCTCCAGGACA 0.647000 123 60 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113722539 113722539 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:113722539C>T uc001tux.3 + 17 1806 c.1632C>T c.(1630-1632)tcC>tcT p.S544S TPCN1_uc001tuw.3_Silent_p.S472S|TPCN1_uc010syt.1_Silent_p.S404S NM_001143819 NP_060371 Q9ULQ1 TPC1_HUMAN Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA. 472 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 ACTTCTTCTCCAAGCACGTGC 0.517000 55 32 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35086443 35086443 + Splice_Site SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:35086443C>G uc003jjm.3 - 4 630 c.71_splice c.e4-1 p.G24_splice PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Splice_Site_p.G24_splice|PRLR_uc003jjh.2_Splice_Site_p.G24_splice|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Splice_Site_p.G24_splice|PRLR_uc003jjl.4_Intron|PRLR_uc021xxl.1_Splice_Site_p.G24_splice|PRLR_uc010iuw.1_Splice_Site NM_000949 NP_000940 P16471 PRLR_HUMAN Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA. 24 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) GGTAACTGTCCTAGAAAAAGC 0.468000 53 18 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78010384 78010384 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:78010384C>T uc022bzj.1 + 0 18 c.18C>T c.(16-18)ttC>ttT p.F6F LPAR4_uc010nme.3_Silent_p.F6F NM_005296 NP_005287 Q99677 LPAR4_HUMAN Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA. 6 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 ACAGAAGATTCATTGACTTCC 0.438000 5 20 0 0 1 0 0 PRR14L 253143 broad.mit.edu 37 22 32099612 32099612 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:32099612A>G uc003alp.4 - 5 6117 c.5924T>C c.(5923-5925)gTt>gCt p.V1975A PRR14L_uc003alo.2_Missense_Mutation_p.V1774A|PRR14L_uc010gwj.1_Missense_Mutation_p.V1774A NM_173566 NP_775837 Q5THK1 PR14L_HUMAN Homo sapiens proline rich 14-like (PRR14L), mRNA. 1975 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 CAATCCACGAACCTGGAACTC 0.547000 96 30 0 0 1 0 0 FAM19A2 338811 broad.mit.edu 37 12 62261172 62261172 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:62261172C>T uc001sqw.3 - 1 1617 c.35G>A c.(34-36)gGa>gAa p.G12E FAM19A2_uc001sqx.3_Missense_Mutation_p.G12E|FAM19A2_uc001sqy.3_Non-coding_Transcript NM_178539 NP_848634 Q8N3H0 F19A2_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA. 12 cytoplasm p.G12E(2) endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) TAGCAGTTTTCCTTTTGTTGC 0.294000 48 27 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21752148 21752148 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:21752148G>A uc010iuc.2 - 11 2541 c.2083C>T c.(2083-2085)Cca>Tca p.P695S CDH12_uc011cno.1_Missense_Mutation_p.P655S|CDH12_uc003jgk.2_Missense_Mutation_p.P695S|BC038535_uc003jgj.3_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 695 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.K694N(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AGAGAGTCTGGTTTTATATCC 0.458000 HNSCC(59;0.17) 33 21 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925374 67925374 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:67925374C>T uc001onm.1 - 10 2695 c.2439G>A c.(2437-2439)atG>atA p.M813I SUV420H1_uc009yse.1_Missense_Mutation_p.M399I|SUV420H1_uc001onn.1_Missense_Mutation_p.M641I|SUV420H1_uc009ysf.2_Missense_Mutation_p.M573I NM_017635 NP_060105 Q4FZB7 SV421_HUMAN Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA. 813 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 CATCCACCTCCATTCGAGACT 0.453000 86 47 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151962208 151962208 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:151962208G>A uc003wla.3 - 7 1318 c.1099C>T c.(1099-1101)Cat>Tat p.H367Y NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 367 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.H367Y(3)|p.Y366S(1) NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CACATTCCATGATAGTGCTGA 0.448000 N medulloblastoma 504 49 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814626 106814626 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:106814626C>T uc003ymd.3 + 7 2339 c.2316C>T c.(2314-2316)tcC>tcT p.S772S ZFPM2_uc011lhs.2_Silent_p.S503S NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 772 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CTTGTACCTCCACTCAAGAAC 0.463000 16 45 0 0 1 0 0 AK310441 0 broad.mit.edu 37 1 148889597 148889597 + RNA SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:148889597C>T uc009wkv.1 + 6 c.684C>T Homo sapiens cDNA, FLJ17483. GCATGCAGTTCGTCAGAACTT 0.353000 47 6 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10446988 10446988 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:10446988G>A uc003gmn.3 - 2 1452 c.965C>T c.(964-966)cCt>cTt p.P322L ZNF518B_uc021xme.1_Missense_Mutation_p.P322L NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN Homo sapiens zinc finger protein 518B (ZNF518B), mRNA. 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TGGCTGAACAGGTTCTTTTGC 0.413000 54 27 0 0 1 0 0 INF2 64423 broad.mit.edu 37 14 105176039 105176039 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:105176039C>T uc001ypb.2 + 11 2278 c.2135C>T c.(2134-2136)cCc>cTc p.P712L INF2_uc001ypc.2_Missense_Mutation_p.P712L|INF2_uc010awz.1_Non-coding_Transcript NM_022489 NP_071934 Q27J81 INF2_HUMAN Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA. 712 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm Rho GTPase binding|actin binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CTGGCCATTCCCTGGTGAGCA 0.652000 46 23 0 0 1 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35506837 35506837 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:35506837C>T uc010xsf.1 + 10 1194 c.1194C>T c.(1192-1194)ttC>ttT p.F398F GRAMD1A_uc010xse.1_Silent_p.F393F|GRAMD1A_uc002nxk.2_Silent_p.F386F|GRAMD1A_uc002nxl.2_Silent_p.F159F|GRAMD1A_uc002nxn.1_Silent_p.F8F NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA. 393 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ACTCGCCCTTCCTCCAGGGCT 0.632000 35 31 0 0 1 0 0 AVL9 23080 broad.mit.edu 37 7 32598603 32598603 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:32598603G>A uc003tcv.1 + 9 888 c.742G>A c.(742-744)Gat>Aat p.D248N AVL9_uc011kai.2_Missense_Mutation_p.D248N|AVL9_uc010kwj.1_Missense_Mutation_p.D89N NM_015060 NP_055875 Q8NBF6 AVL9_HUMAN Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA. 248 integral to membrane endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TATGTCTGAAGATGGTGGGCT 0.408000 64 41 0 0 1 0 0 FKRP 79147 broad.mit.edu 37 19 47259901 47259901 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:47259901C>T uc002pfn.2 + 3 1491 c.1194C>T c.(1192-1194)gtC>gtT p.V398V FKRP_uc002pfp.2_Silent_p.V398V|FKRP_uc021uwj.1_Silent_p.V398V NM_024301 NP_077277 Q9H9S5 FKRP_HUMAN Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA. 398 Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) AGAAGGCGGTCGAGGGCGACT 0.632000 9 5 0 0 1 0 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744195 31744195 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:31744195C>T uc002ynz.4 - 0 363 c.337G>A c.(337-339)Gga>Aga p.G113R NM_181621 NP_853652 Q52LG2 KR132_HUMAN Homo sapiens keratin associated protein 13-2 (KRTAP13-2), nuclear gene encoding mitochondrial protein, mRNA. 113 intermediate filament endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 21 CTCCTCGATCCATAGCCCAGG 0.582000 20 12 0 0 1 0 0 C9orf37 85026 broad.mit.edu 37 9 140510306 140510306 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:140510306G>A uc004cnz.3 - 2 930 c.346C>T c.(346-348)Ctt>Ttt p.L116F ARRDC1_uc004cnp.2_3'UTR|ARRDC1_uc004cnx.2_3'UTR NM_032937 NP_116326 Q9H2J1 CI037_HUMAN Homo sapiens chromosome 9 open reading frame 37 (C9orf37), mRNA. 116 breast(1)|large_intestine(2) 3 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) ACGTCTCCAAGGCCTGAAAGG 0.657000 25 13 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306874 54306874 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:54306874G>A uc021smr.1 + 0 1774 c.1774G>A c.(1774-1776)Gaa>Aaa p.E592K UNC13C_uc021sms.1_Missense_Mutation_p.E592K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 592 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GAGGAAACAGGAAGGAACAGC 0.458000 35 10 0 0 1 0 0 NRIP1 8204 broad.mit.edu 37 21 16337700 16337700 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:16337700C>T uc021whl.1 - 0 2814 c.2814G>A c.(2812-2814)caG>caA p.Q938Q NRIP1_uc002yjx.2_Silent_p.Q938Q NM_003489 NP_003480 P48552 NRIP1_HUMAN Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA. 938 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) AGAGAAGCAGCTGTTTCAGAA 0.433000 61 32 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28497338 28497338 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:28497338C>T uc003nll.2 + 1 200 c.198C>T c.(196-198)ttC>ttT p.F66F GPX5_uc003nlm.2_Silent_p.F66F|GPX5_uc003nln.2_Non-coding_Transcript NM_001509 NP_001500 O75715 GPX5_HUMAN Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA. 66 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity p.L65H(1) endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) ACATCCTCTTCGTCAACGTGG 0.428000 138 34 0 0 1 0 0 CLK3 1198 broad.mit.edu 37 15 74912474 74912474 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:74912474C>T uc010uln.2 + 2 1182 c.721C>T c.(721-723)Cgg>Tgg p.R241W CLK3_uc002ayg.4_Missense_Mutation_p.R93W|CLK3_uc002ayh.4_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R241W|CLK3_uc002ayj.4_Missense_Mutation_p.R93W|CLK3_uc002ayk.4_5'UTR NM_001130028 NP_003983 P49761 CLK3_HUMAN Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA. 241 Arg-rich. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 TCGTCATCGTCGGCGATCGCG 0.627000 109 62 0 0 1 0 0 DCDC5 100506627 broad.mit.edu 37 11 30938428 30938428 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:30938428C>T uc009yjk.1 - 13 1854 c.1785G>A c.(1783-1785)caG>caA p.Q595Q DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Silent_p.Q254Q NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 226 intracellular signal transduction NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 TGTGTTTCTTCTGTGGTTCCA 0.403000 19 10 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7920973 7920973 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:7920973C>T uc002wmw.1 - 0 121 c.97G>A c.(97-99)Gat>Aat p.D33N HAO1_uc010gbu.3_Missense_Mutation_p.D33N NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA. 33 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTTTCTTCATCATTTGCCCCA 0.318000 29 16 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229933 7229933 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:7229933C>T uc003mxb.3 + 9 2093 c.1601C>T c.(1600-1602)tCc>tTc p.S534F RREB1_uc021yky.1_Missense_Mutation_p.S534F|RREB1_uc003mxc.3_Missense_Mutation_p.S534F|RREB1_uc010jnx.3_Missense_Mutation_p.S534F|RREB1_uc021ykz.1_Missense_Mutation_p.S534F|RREB1_uc021yla.1_Intron NM_001003699 NP_001003699 Q92766 RREB1_HUMAN Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA. 534 Pro-rich. Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CAGCAGGCTTCCCCGGGCTGT 0.672000 51 21 0 0 1 0 0 TINAGL1 64129 broad.mit.edu 37 1 32050544 32050544 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:32050544C>T uc001bta.3 + 6 890 c.764C>T c.(763-765)tCg>tTg p.S255L TINAGL1_uc010ogj.2_Missense_Mutation_p.S224L|TINAGL1_uc010ogk.1_Missense_Mutation_p.S255L|TINAGL1_uc021oko.1_Missense_Mutation_p.S150L NM_022164 NP_001191344 Q9GZM7 TINAL_HUMAN Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA. 255 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) CCTGTCCTGTCGCCCCAGAAC 0.627000 41 24 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34042401 34042401 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:34042401C>T uc001zhi.3 + 56 8383 c.8313C>T c.(8311-8313)acC>acT p.T2771T RYR3_uc010bar.3_Silent_p.T2771T NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 2771 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CATATGACACCTTGACTGCCA 0.507000 5 6 0 0 1 0 0 NT5C1B-RDH14 100526794 broad.mit.edu 37 2 18765428 18765428 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:18765428C>T uc010exr.3 - 4 935 c.823G>A c.(823-825)Gaa>Aaa p.E275K NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.E333K|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.E273K|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.E333K|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.E316K|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.E350K|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.E335K|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.E273K|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.E125K NM_001199103 NP_001186032 Q96P26 5NT1B_HUMAN Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA. 333 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ATGTACTTTTCCAGACCCTCT 0.552000 115 56 0 0 1 0 0 SEPT14 346288 broad.mit.edu 37 7 55874943 55874943 + Missense_Mutation SNP C T T rs78957351 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:55874943C>T uc003tqz.2 - 7 943 c.826G>A c.(826-828)Gaa>Aaa p.E276K NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN Homo sapiens septin 14 (SEPT14), mRNA. 276 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CAGTGATTTTCATTTTCCACT 0.313000 23 11 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121712934 121712934 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:121712934G>A uc010flp.3 + 3 601 c.571G>A c.(571-573)Ggg>Agg p.G191R GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Missense_Mutation_p.G66R|GLI2_uc002tmw.1_Missense_Mutation_p.G191R NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 191 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CGCGCCCTACGGGGACCTGCT 0.667000 18 11 0 0 1 0 0 DNAJB3 414061 broad.mit.edu 37 2 234652181 234652181 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:234652181C>T uc002vuz.3 - 0 481 c.382G>A c.(382-384)Gaa>Aaa p.E128K UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron NM_001001394 NP_001001394 Q8WWF6 DNJB3_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA. 128 protein folding heat shock protein binding|unfolded protein binding CCCAGCAGTTCCTCTGACCCC 0.532000 26 12 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54916148 54916148 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:54916148C>T uc021smr.1 + 29 6349 c.6349C>T c.(6349-6351)Cag>Tag p.Q2117* UNC13C_uc021sms.1_Nonsense_Mutation_p.Q2119*|UNC13C_uc002acm.3_Nonsense_Mutation_p.Q40* NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 2119 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGAAACATTTCAGTTGTAAGT 0.403000 73 42 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10358358 10358358 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:10358358C>T uc002gmn.3 - 20 2446 c.2335G>A c.(2335-2337)Gaa>Aaa p.E779K AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 779 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E778K(1) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCTCGCATTTCCTCTAGAGTT 0.418000 45 23 0 0 1 0 0 GABPB2 126626 broad.mit.edu 37 1 151062948 151062948 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:151062948C>T uc001ewr.2 + 2 506 c.175C>T c.(175-177)Cga>Tga p.R59* GABPB2_uc010pcp.1_Nonsense_Mutation_p.R75*|GABPB2_uc001ewt.2_5'Flank NM_144618 NP_653219 Q8TAK5 GABP2_HUMAN Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA. 59 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) AGTACTCCTTCGAGCAGGTGT 0.507000 58 32 0 0 1 0 0 FAM19A1 407738 broad.mit.edu 37 3 68466480 68466480 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:68466480C>T uc003dnd.3 + 2 385 c.169C>T c.(169-171)Cgc>Tgc p.R57C FAM19A1_uc003dne.3_Missense_Mutation_p.R57C|FAM19A1_uc003dng.3_Missense_Mutation_p.R57C NM_001252216 NP_001239145 Q7Z5A9 F19A1_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA. 57 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) TAACAAGAATCGCATTGAGGA 0.473000 28 17 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49671293 49671293 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:49671293C>T uc002pmw.3 + 3 495 c.387C>T c.(385-387)gtC>gtT p.V129V TRPM4_uc010emu.3_Silent_p.V129V|TRPM4_uc010yak.2_Intron|TRPM4_uc002pmx.3_Intron|TRPM4_uc010emv.3_Intron|TRPM4_uc010yal.2_Intron NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA. 129 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGGGCCCCGTCCTCCAGACCT 0.682000 73 45 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012767 29012767 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:29012767G>A uc003nlw.2 - 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F LOC100129636_uc021ytq.1_Intron NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 AATTTCTGAGGAAAAAGTACA 0.433000 27 66 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150444338 150444338 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:150444338C>T uc009wlr.3 + 10 3115 c.2914C>T c.(2914-2916)Cgt>Tgt p.R972C RPRD2_uc010pcc.1_Intron|RPRD2_uc001eup.4_Missense_Mutation_p.R946C NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA. 972 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 AGTCCCACATCGTTCCCTTTT 0.577000 212 133 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54794678 54794678 + Silent SNP C T T rs148991401 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:54794678C>T uc001sga.3 - 24 2663 c.2595G>A c.(2593-2595)acG>acA p.T865T NM_002205 NP_002196 P08648 ITA5_HUMAN Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA. 865 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 AGTTGAGTCCCGTAACTCTGG 0.557000 22 8 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48414348 48414348 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:48414348C>T uc001jfa.1 - 1 680 c.520G>A c.(520-522)Gat>Aat p.D174N NM_016204 NP_057288 Q9UK05 GDF2_HUMAN Homo sapiens growth differentiation factor 2 (GDF2), mRNA. 174 BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 TCCAGAACATCATAAATGACC 0.517000 22 10 0 0 1 0 0 OR6C68 403284 broad.mit.edu 37 12 55886880 55886880 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:55886880C>T uc010spo.2 + 0 734 c.734C>T c.(733-735)tCt>tTt p.S245F NM_001005519 NP_001005519 A6NDL8 O6C68_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA. 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C244Y(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 TCTACCTGTTCTTCACATATT 0.348000 29 16 0 0 1 0 0 SCML4 256380 broad.mit.edu 37 6 108042083 108042083 + Missense_Mutation SNP G A A rs150290151 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:108042083G>A uc010kdf.3 - 5 1048 c.797C>T c.(796-798)tCg>tTg p.S266L SCML4_uc003prz.4_Missense_Mutation_p.S208L|SCML4_uc011eam.1_Missense_Mutation_p.S266L|SCML4_uc003pry.4_Missense_Mutation_p.S24L|SCML4_uc003psa.3_Missense_Mutation_p.S237L NM_198081 NP_932347 Q8N228 SCML4_HUMAN Homo sapiens sex comb on midleg-like 4 (Drosophila) (SCML4), mRNA. 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) GCAGTACAGCGAGGAGGAGGG 0.627000 9 15 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21139052 21139052 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:21139052C>T uc010vbe.2 - 7 1164 c.1164G>A c.(1162-1164)gtG>gtA p.V388V DNAH3_uc002die.2_Silent_p.V359V NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 388 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GTTTCTGGATCACATCCCAAA 0.488000 75 50 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142148162 142148162 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:142148162C>T uc003yvy.3 + 2 465 c.187C>T c.(187-189)Cac>Tac p.H63Y DENND3_uc003yvw.1_Missense_Mutation_p.H76Y|DENND3_uc003yvx.3_Missense_Mutation_p.H143Y|DENND3_uc010mep.3_Missense_Mutation_p.H76Y NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 63 UDENN. 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) GGATTGCGTCCACTTCCTGGT 0.582000 4 18 0 0 1 0 0 NXPH2 11249 broad.mit.edu 37 2 139428785 139428785 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:139428785C>T uc002tvi.3 - 1 502 c.502G>A c.(502-504)Gaa>Aaa p.E168K NM_007226 NP_009157 O95156 NXPH2_HUMAN Homo sapiens neurexophilin 2 (NXPH2), mRNA. 168 III. neuropeptide signaling pathway extracellular region endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) ACTTCAAATTCCACCACCTTG 0.458000 14 8 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22033807 22033807 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:22033807C>T uc003xbg.3 + 2 680 c.414C>T c.(412-414)gtC>gtT p.V138V BMP1_uc011kzb.2_Non-coding_Transcript|BMP1_uc003xbf.3_5'UTR|BMP1_uc003xbb.3_Silent_p.V138V|BMP1_uc003xbc.3_5'UTR|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_5'UTR|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript NM_006129 NP_006120 P13497 BMP1_HUMAN Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA. 138 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) TCCCCTTTGTCATTGGGGGAA 0.647000 11 13 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18703912 18703912 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:18703912G>A uc001bau.2 + 8 1703 c.1320G>A c.(1318-1320)acG>acA p.T440T IGSF21_uc001bav.2_Silent_p.T261T NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 440 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CAAGAGGAACGGAGGACTCTA 0.483000 58 37 0 0 1 0 0 ACPL2 92370 broad.mit.edu 37 3 140997255 140997255 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:140997255C>T uc003etu.3 + 4 450 c.151C>T c.(151-153)Cct>Tct p.P51S ACPL2_uc003etv.3_Missense_Mutation_p.P51S|ACPL2_uc011bna.2_Missense_Mutation_p.P13S|ACPL2_uc011bnb.2_Missense_Mutation_p.P34S NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA. 51 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 CATGCCCGACCCTGTGACGGA 0.552000 45 21 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63141421 63141422 + Missense_Mutation DNP CC TT TT rs150640442 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:63141421_63141422CC>TT uc001nww.3 + 3 985_986 c.717_718CC>TT c.(715-720)tgccct>tgTTct p.P240S SLC22A9_uc001nwx.3_Non-coding_Transcript NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA. 240 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TGGGAATGTGCCCTTCTGGTAT 0.475000 43 12 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96534881 96534881 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:96534881G>A uc010qnz.2 + 1 235 c.235G>A c.(235-237)Gga>Aga p.G79R CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.G57R NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 79 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 p.G79*(2)|p.G79E(1) 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) GGTGCTGCATGGATATGAAGT 0.458000 71 28 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200974808 200974808 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:200974808C>T uc001gvs.2 - 3 779 c.462G>A c.(460-462)gaG>gaA p.E154E KIF21B_uc009wzl.2_Silent_p.E154E|KIF21B_uc001gvr.2_Silent_p.E154E|KIF21B_uc010ppn.2_Silent_p.E154E|KIF21B_uc001gvt.1_5'UTR NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 154 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GGTCAAGGATCTCCTCGTTGT 0.542000 77 49 0 0 1 0 0 CDSN 1041 broad.mit.edu 37 6 31084988 31084988 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:31084988C>T uc003nsm.2 - 1 460 c.404G>A c.(403-405)gGg>gAg p.G135E PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN Homo sapiens corneodesmosin (CDSN), mRNA. 135 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 GCTGCTGCTCCCCAGCTGGGA 0.577000 40 11 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68249705 68249705 + Silent SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:68249705T>A uc001xka.2 - 20 4303 c.4164A>T c.(4162-4164)gcA>gcT p.A1388A ZFYVE26_uc010tsz.1_Intron|ZFYVE26_uc001xkc.4_Silent_p.A1388A NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA. 1388 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) AGAGATTCACTGCCAGACTCT 0.562000 36 17 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32091181 32091182 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:32091181_32091182GG>AA uc003jhl.3 + 19 8015_8016 c.7627_7628GG>AA c.(7627-7629)gga>AAa p.G2543K PDZD2_uc003jhm.3_Missense_Mutation_p.G2543K NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 2543 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTGTCCAGGAGGAAGTGGCCCT 0.579000 28 20 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23884682 23884682 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:23884682C>T uc001wjx.3 - 35 5297 c.5191G>A c.(5191-5193)Gat>Aat p.D1731N NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 1731 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AGGTCAGCATCCATCTTCTTC 0.542000 44 17 0 0 1 0 0 HCFC2 29915 broad.mit.edu 37 12 104459995 104459995 + Missense_Mutation SNP T G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:104459995T>G uc001tkj.4 + 1 317 c.214T>G c.(214-216)Tgt>Ggt p.C72G HCFC2_uc009zul.3_Non-coding_Transcript|GLT8D2_uc001tki.1_5'Flank NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN Homo sapiens host cell factor C2 (HCFC2), mRNA. 72 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 CCCTCCAGGCTGTGCTGCCCA 0.398000 89 57 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58207430 58207430 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:58207430G>A uc001vhq.1 + 0 1642 c.750G>A c.(748-750)gtG>gtA p.V250V PCDH17_uc010aec.1_Silent_p.V250V NM_001040429 NP_001035519 O14917 PCD17_HUMAN Homo sapiens protocadherin 17 (PCDH17), mRNA. 250 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCTACTTGGTGGAACTGCCCG 0.582000 38 22 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130877858 130877858 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:130877858C>T uc010fmh.2 - 2 631 c.231G>A c.(229-231)aaG>aaA p.K77K NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 77 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CCACGTTGCTCTTGCCACTCC 0.597000 164 58 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5862225 5862225 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:5862225C>T uc010qzq.2 - 0 903 c.903G>A c.(901-903)agG>agA p.R301R TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA. 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCACTGTCTCCCTAATATGTT 0.433000 72 24 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324257 152324257 + Missense_Mutation SNP G C C rs144200854 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:152324257G>C uc001ezw.4 - 2 6078 c.6005C>G c.(6004-6006)gCa>gGa p.A2002G AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 2002 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTGGTATCTGCTGTTTGTCC 0.517000 353 6 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161116141 161116141 + Missense_Mutation SNP A T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:161116141A>T uc003lyu.2 + 3 750 c.412A>T c.(412-414)Ata>Tta p.I138L GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 138 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTCTTCAGAATAATGCAGAA 0.373000 TCGA Ovarian(5;0.080) 24 13 0 0 1 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45458398 45458398 + RNA SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:45458398C>T uc001rol.3 - 0 c.797G>A Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. TACCTGTTTTCCTTTGGCTCC 0.522000 21 6 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106967087 106967087 + Silent SNP T C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:106967087T>C uc003prh.3 + 1 1692 c.780T>C c.(778-780)ttT>ttC p.F260F NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 260 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) ACAATCCATTTAGCCAGCCAG 0.443000 13 18 0 0 1 0 0 SSX3 10214 broad.mit.edu 37 X 48214139 48214139 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:48214139C>T uc004djd.1 - 2 206 c.112G>A c.(112-114)Gaa>Aaa p.E38K SSX3_uc004dje.3_Missense_Mutation_p.E38K|SSX3_uc010nic.3_Missense_Mutation_p.E38K NM_021014 NP_066294 Q99909 SSX3_HUMAN Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA. 38 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 TTCATCTTTTCCCACTCTTCC 0.393000 3 28 0 0 1 0 0 MIA2 117153 broad.mit.edu 37 14 39722040 39722040 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:39722040G>A uc001wux.3 + 4 1850 c.1656G>A c.(1654-1656)tcG>tcA p.S552S NM_054024 NP_473365 Q96PC5 MIA2_HUMAN Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA. 161 extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) ATGAAAATTCGAAACCATCAG 0.378000 51 28 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69380947 69380947 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:69380947C>T uc010lyz.3 + 3 919 c.628C>T c.(628-630)Cca>Tca p.P210S C8orf34_uc010lyy.2_Missense_Mutation_p.P210S|C8orf34_uc003xyb.3_Missense_Mutation_p.P99S NM_052958 NP_443190 Q49A92 CH034_HUMAN Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA. 124 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) AGTAGAGCATCCAAAGTGGAA 0.398000 21 67 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70505242 70505242 + Silent SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:70505242A>G uc001dep.3 + 18 3651 c.3621A>G c.(3619-3621)acA>acG p.T1207T LRRC7_uc009wbg.3_Silent_p.T491T|LRRC7_uc001deq.3_Silent_p.T448T NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 1207 centrosome|focal adhesion|nucleolus protein binding p.S1206C(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GCTACAGTACAGAGAGTTACG 0.458000 13 11 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57611094 57611094 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:57611094G>A uc009vzx.1 - 2 396 c.76C>T c.(76-78)Cgc>Tgc p.R26C DAB1_uc001cyt.1_Missense_Mutation_p.R26C|DAB1_uc001cyq.1_Missense_Mutation_p.R26C|DAB1_uc001cyr.1_Missense_Mutation_p.R26C|DAB1_uc009vzw.1_Missense_Mutation_p.R26C|DAB1_uc001cys.1_Missense_Mutation_p.R26C NM_021080 NP_066566 O75553 DAB1_HUMAN Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA. 26 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GCTTCACTGCGATCCTGACCT 0.458000 47 23 0 0 1 0 0 NCKIPSD 51517 broad.mit.edu 37 3 48719109 48719109 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:48719109G>A uc003cun.3 - 4 797 c.703C>T c.(703-705)Cca>Tca p.P235S NCKIPSD_uc003cum.3_Missense_Mutation_p.P228S|NCKIPSD_uc010hkh.2_Missense_Mutation_p.P235S NM_016453 NP_057537 Q9NZQ3 SPN90_HUMAN Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA. 235 Pro-rich.|Ser/Thr-rich. NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction intermediate filament|nucleus SH3 domain binding|cytoskeletal protein binding endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTGGAGCCTGGTTCAGATGGG 0.657000 5 8 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76371693 76371693 + Missense_Mutation SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:76371693G>T uc001oxq.4 - 2 1187 c.944C>A c.(943-945)tCc>tAc p.S315Y LRRC32_uc001oxr.4_Missense_Mutation_p.S315Y|LRRC32_uc010rsf.2_Missense_Mutation_p.S315Y NM_005512 NP_005503 Q14392 LRC32_HUMAN Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA. 315 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CAAGAGCTGGGAAAGGGGGCG 0.617000 14 5 0.0215528 0.0215737 1 1 0 MYH15 22989 broad.mit.edu 37 3 108118020 108118020 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:108118020C>T uc003dxa.1 - 34 4948 c.4891G>A c.(4891-4893)Gaa>Aaa p.E1631K NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1631 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 AGGTCCTCTTCCATCTTCTTC 0.493000 53 24 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101933603 101933603 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:101933603G>A uc002bxa.2 - 8 1334 c.1020C>T c.(1018-1020)ttC>ttT p.F340F PCSK6_uc010bpd.3_Silent_p.F211F|PCSK6_uc002bwy.3_Silent_p.F340F|PCSK6_uc010bpe.3_Silent_p.F337F|PCSK6_uc002bxb.2_Silent_p.F340F|PCSK6_uc002bxc.1_Silent_p.F340F|PCSK6_uc002bxd.1_Silent_p.F340F|PCSK6_uc002bxe.3_Silent_p.F340F|PCSK6_uc002bxg.1_Silent_p.F340F NM_138320 NP_612193 P29122 PCSK6_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA. 341 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity p.F340F(4) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATGCCCAGACGAAAATGGAGC 0.627000 29 16 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123964332 123964332 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:123964332G>A uc022bag.1 + 0 582 c.582G>A c.(580-582)gcG>gcA p.A194A ZHX2_uc003ypk.1_Silent_p.A194A NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA. 194 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K193N(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AACCAAAAGCGGATGCCAAGA 0.572000 115 34 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47564867 47564867 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:47564867C>T uc001cqu.1 + 7 981 c.978C>T c.(976-978)atC>atT p.I326I NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA. 326 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 TCTCCTGGATCCTTTACTGCT 0.478000 52 41 0 0 1 0 0 CYTH4 27128 broad.mit.edu 37 22 37688708 37688708 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:37688708C>T uc003arf.3 + 1 182 c.66C>T c.(64-66)atC>atT p.I22I CYTH4_uc003ard.4_Silent_p.I22I|CYTH4_uc003are.2_Silent_p.I22I|CYTH4_uc011amw.2_5'UTR NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN Homo sapiens cytohesin 4 (CYTH4), mRNA. 22 regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 TACAGAGGATCAAGTGGCACC 0.607000 56 57 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13409743 13409743 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:13409743C>T uc002mwy.3 - 18 2940 c.2704G>A c.(2704-2706)Gac>Aac p.D902N CACNA1A_uc010dzc.2_Missense_Mutation_p.D428N|CACNA1A_uc010xnd.2_Missense_Mutation_p.D905N|CACNA1A_uc021ups.1_Missense_Mutation_p.D902N|CACNA1A_uc010xne.2_Missense_Mutation_p.D905N|CACNA1A_uc010dze.2_Missense_Mutation_p.D902N|CACNA1A_uc021upt.1_Missense_Mutation_p.D903N NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 903 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCGTGGTGGTCCGACTCGCGG 0.776000 10 7 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14747031 14747031 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:14747031G>A uc003zlm.3 - 34 6844 c.6028C>T c.(6028-6030)Cca>Tca p.P2010S FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.P546S NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 2010 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CAGTTCTTTGGAAATGAGGGC 0.448000 11 3 0 0 1 0 0 HPS4 89781 broad.mit.edu 37 22 26860656 26860656 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:26860656G>A uc003acl.3 - 10 1599 c.940C>T c.(940-942)Cct>Tct p.P314S HPS4_uc003aci.3_Missense_Mutation_p.P309S|HPS4_uc003acj.3_Missense_Mutation_p.P178S|HPS4_uc003ack.3_Missense_Mutation_p.P105S|HPS4_uc003acn.3_Missense_Mutation_p.P160S|HPS4_uc010gvd.1_Missense_Mutation_p.P332S|HPS4_uc003ach.3_Missense_Mutation_p.P49S NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA. 314 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 GCTTCGTCAGGGGATGTGGGA 0.592000 Hermansky-Pudlak syndrome 84 26 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8145963 8145963 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:8145963G>A uc002mjf.3 - 57 7394 c.7377C>T c.(7375-7377)ttC>ttT p.F2459F FBN3_uc002mje.3_Silent_p.F298F NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 2459 EGF-like 40; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGACACAGAGGAACTGACAGT 0.657000 39 14 0 0 1 0 0 UFSP2 55325 broad.mit.edu 37 4 186329176 186329176 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:186329176G>A uc003ixo.2 - 8 1152 c.1035C>T c.(1033-1035)gtC>gtT p.V345V UFSP2_uc003ixq.2_Silent_p.V235V NM_018359 NP_060829 Q9NUQ7 UFSP2_HUMAN Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA. 345 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) GCCGCGATCCGACAAATGTTG 0.398000 51 3 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9066956 9066956 + Missense_Mutation SNP G A A rs146672079 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:9066956G>A uc003brf.1 - 13 2343 c.1667C>T c.(1666-1668)tCc>tTc p.S556F SRGAP3_uc003brg.1_Missense_Mutation_p.S532F|SRGAP3_uc003bri.1_Non-coding_Transcript NM_014850 NP_055665 O43295 SRGP2_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA. 556 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding p.S556F(2) SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TCTCTCAAAGGAATTTTTGAT 0.478000 T RAF1 pilocytic astrocytoma 52 30 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150912931 150912931 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:150912931G>A uc004fey.1 + 6 2180 c.1956G>A c.(1954-1956)ggG>ggA p.G652G NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 652 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) TGTCTGATGGGATGAACAGCC 0.552000 8 17 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26589877 26589877 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:26589877G>A uc001isp.2 + 15 2248 c.1745G>A c.(1744-1746)gGa>gAa p.G582E GAD2_uc001isq.2_Missense_Mutation_p.G582E NM_001134366 NP_001127838 Q05329 DCE2_HUMAN Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA. 582 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) GAACGCCTTGGACAAGATTTA 0.418000 45 30 0 0 1 0 0 MAFK 7975 broad.mit.edu 37 7 1579986 1579986 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:1579986C>T uc003skr.3 + 2 657 c.446C>T c.(445-447)tCc>tTc p.S149F MAFK_uc003sks.1_Non-coding_Transcript NM_002360 NP_002351 O60675 MAFK_HUMAN Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian) (MAFK), mRNA. 149 blood coagulation nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15) TCCTCCACCTCCGTGCCCTTC 0.736000 13 4 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70890850 70890850 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:70890850C>T uc021vjc.1 - 15 2153 c.1888G>A c.(1888-1890)Gaa>Aaa p.E630K ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Missense_Mutation_p.E630K NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 630 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding F-actin capping protein complex|cytoplasm|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TTGCTTGTTTCTGTCTTCTTA 0.507000 15 8 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130280114 130280114 + Missense_Mutation SNP G C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:130280114G>C uc004brh.3 - 5 898 c.696C>G c.(694-696)aaC>aaG p.N232K FAM129B_uc004bri.3_Missense_Mutation_p.N219K|FAM129B_uc004brj.4_Missense_Mutation_p.N232K NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA. 232 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CCTGCACCTCGTTCCCACACA 0.622000 26 12 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228402711 228402711 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:228402711G>A uc009xez.1 + 4 1784 c.1740G>A c.(1738-1740)gcG>gcA p.A580A OBSCN_uc001hsn.3_Silent_p.A580A|AK056556_uc001hsm.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 580 Fibronectin type-III 1. 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) CTGATGTGGCGGAGGAGGGGA 0.592000 4 8 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66564645 66564645 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:66564645G>A uc002lkk.2 + 7 1466 c.1243G>A c.(1243-1245)Gat>Aat p.D415N CCDC102B_uc002lki.2_Missense_Mutation_p.D415N|CCDC102B_uc002lkj.1_Missense_Mutation_p.D415N NM_001093729 NP_079057 Q68D86 C102B_HUMAN Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA. 415 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GTCACAAATTGATCTGCAAGA 0.408000 188 55 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123858837 123858837 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:123858837C>T uc004bkx.1 + 3 648 c.617C>T c.(616-618)tCa>tTa p.S206L CNTRL_uc004bkw.2_Missense_Mutation_p.S206L NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN Homo sapiens centriolin (CNTRL), mRNA. 206 G2/M transition of mitotic cell cycle|cell division centrosome|cytosol protein binding p.S206L(1) haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 AACAAGATATCATCGGTAAGT 0.284000 59 25 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196866423 196866423 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:196866423G>A uc002utj.4 - 10 1250 c.1149C>T c.(1147-1149)ttC>ttT p.F383F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 383 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTAAGTCCGTGAAATCTTGCA 0.368000 59 28 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158725001 158725001 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:158725001C>T uc001fsw.1 + 0 396 c.396C>T c.(394-396)ttC>ttT p.F132F NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA. 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) TGTACTTTTTCCACTCACTTG 0.493000 38 16 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40976935 40976935 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:40976935G>A uc003jmh.3 + 15 2272 c.2158G>A c.(2158-2160)Gaa>Aaa p.E720K C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 720 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AATGCCCTACGAATGTGGGTA 0.388000 6 6 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30973992 30973992 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:30973992G>A uc021vfn.1 - 9 1245 c.1213C>T c.(1213-1215)Cca>Tca p.P405S CAPN13_uc021vfm.1_Missense_Mutation_p.P405S|CAPN13_uc002rnp.1_Missense_Mutation_p.P405S NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN Homo sapiens calpain 13 (CAPN13), mRNA. 405 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity p.P405S(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AAATCGAGTGGAAATTTTGCA 0.463000 21 7 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84694037 84694037 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:84694037G>A uc002bjz.4 + 26 4729 c.4505G>A c.(4504-4506)gGa>gAa p.G1502E ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1502E NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 1502 TSP type-1 9. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TGCGGTGAAGGATACCACAGT 0.517000 36 22 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183714696 183714696 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:183714696G>A uc003ivd.1 + 24 6946 c.6871G>A c.(6871-6873)Gaa>Aaa p.E2291K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 2291 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CAGTGGGGATGAATTCTATAT 0.423000 20 4 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13323301 13323301 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:13323301G>A uc002mwy.3 - 41 6322 c.6086C>T c.(6085-6087)tCc>tTc p.S2029F CACNA1A_uc002mwx.3_Missense_Mutation_p.S735F|CACNA1A_uc010dzc.2_Missense_Mutation_p.S1555F|CACNA1A_uc010xnd.2_Missense_Mutation_p.S2032F|CACNA1A_uc021ups.1_Missense_Mutation_p.S2029F|CACNA1A_uc010xne.2_Missense_Mutation_p.S2032F|CACNA1A_uc010dze.2_Missense_Mutation_p.S2029F|CACNA1A_uc021upt.1_Missense_Mutation_p.S2030F|CACNA1A_uc002mwv.3_Missense_Mutation_p.S546F NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 2030 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGTCACCCAGGACGGGCTCTC 0.642000 1 4 0 0 1 0 0 OR4N3P 390539 broad.mit.edu 37 15 22414338 22414338 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:22414338G>A uc001yuf.3 + 0 877 c.637G>A c.(637-639)Gaa>Aaa p.E213K abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. TCATAACCAGGAAGTGAAAGC 0.378000 36 5 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47912453 47912453 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:47912453G>A uc003csb.2 - 12 3235 c.2709C>T c.(2707-2709)ttC>ttT p.F903F MAP4_uc003csc.3_Silent_p.F903F|MAP4_uc003crw.2_Silent_p.F35F|MAP4_uc003crx.2_Silent_p.F163F|MAP4_uc011bbe.1_Silent_p.F654F|MAP4_uc003csa.3_Silent_p.F638F|MAP4_uc003crz.4_Non-coding_Transcript|MAP4_uc003csd.2_Silent_p.F638F NM_002375 NP_002366 P27816 MAP4_HUMAN Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA. 903 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TCTTGTCTATGAAAGGAGTTG 0.622000 38 20 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160968945 160968945 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:160968945C>T uc003qtl.3 - 32 5300 c.5180G>A c.(5179-5181)gGa>gAa p.G1727E NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 4235 Kringle 16. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GCCCCGGTATCCTTTCCCATT 0.483000 23 29 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1029076 1029076 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:1029076G>A uc001lsw.2 - 10 1401 c.1350C>T c.(1348-1350)tcC>tcT p.S450S NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA. 450 VWFD 2. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAGCCACCAGGGAGGTCTCGG 0.677000 14 6 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184764240 184764240 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:184764240G>A uc001gra.3 - 13 2852 c.2658C>T c.(2656-2658)gcC>gcT p.A886A FAM129A_uc001grb.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA. 886 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 CATGAATACGGGCTACCTTGA 0.562000 36 57 0 0 1 0 0 PYDC2 152138 broad.mit.edu 37 3 191179085 191179085 + Missense_Mutation SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:191179085C>A uc011bso.2 + 0 134 c.134C>A c.(133-135)aCa>aAa p.T45K NM_001083308 NP_001076777 Q56P42 PYDC2_HUMAN Homo sapiens pyrin domain containing 2 (PYDC2), mRNA. 45 DAPIN. cytoplasm|nucleus p.T45R(2) breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 GTCCCCCAGACAGAGGTAGAC 0.532000 65 32 5.91797e-21 6.01408e-21 1 1 0 COL8A2 1296 broad.mit.edu 37 1 36564386 36564386 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:36564386C>T uc001bzv.2 - 1 903 c.896G>A c.(895-897)gGg>gAg p.G299E COL8A2_uc001bzw.2_Missense_Mutation_p.G234E NM_005202 NP_005193 P25067 CO8A2_HUMAN Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA. 299 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCCTGGCTCCCCTTTGGCCCC 0.701000 13 3 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26101399 26101399 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:26101399G>A uc002gzu.3 - 11 1624 c.1360C>T c.(1360-1362)Cgt>Tgt p.R454C NOS2_uc010crh.1_Missense_Mutation_p.R454C|NOS2_uc010wab.1_Missense_Mutation_p.R454C NM_000625 NP_000616 P35228 NOS2_HUMAN Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA. 454 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CAGCCCCCACGGGACCGGTAT 0.557000 57 36 0 0 1 0 0 PMS1 5378 broad.mit.edu 37 2 190738236 190738236 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:190738236G>A uc002urh.4 + 11 3017 c.2488G>A c.(2488-2490)Gaa>Aaa p.E830K PMS1_uc002urk.4_Missense_Mutation_p.E791K|PMS1_uc002uri.4_Missense_Mutation_p.E668K|PMS1_uc010zgc.2_Missense_Mutation_p.E654K|PMS1_uc010zgd.2_Missense_Mutation_p.E654K|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Silent_p.L662L|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Missense_Mutation_p.E453K|PMS1_uc002urm.3_Non-coding_Transcript NM_000534 NP_000525 P54277 PMS1_HUMAN Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA. 830 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TTCAATTACTGAAAATTACTT 0.269000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 22 17 0 0 1 0 0 C1orf129 80133 broad.mit.edu 37 1 170952613 170952613 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:170952613C>T uc010plz.2 + 8 821 c.667C>T c.(667-669)Cct>Tct p.P223S C1orf129_uc001ghg.3_Missense_Mutation_p.P223S|C1orf129_uc009wvy.3_Missense_Mutation_p.P30S NM_001163629 NP_001157101 Q5TGP6 CA129_HUMAN Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA. 223 binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3) 45 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCTCCAGTTTCCTTCTTCTGA 0.373000 19 9 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50701142 50701142 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:50701142G>A uc002xwk.3 - 8 2241 c.1892C>T c.(1891-1893)tCc>tTc p.S631F ZFP64_uc002xwj.3_Missense_Mutation_p.S412F NM_199427 NP_955459 Q9NPA5 ZF64A_HUMAN Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA. 476 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CTGCCCCACGGAGACCAGGGT 0.597000 35 21 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 107087363 107087363 + RNA SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:107087363C>T uc021ser.1 - 126 c.5450G>A Parts of antibodies, mostly variable regions. AGACCCACTCCAAACCCTTTC 0.507000 25 7 0 0 1 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247184 142247184 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142247184C>T uc003vyd.4 - 1 297 c.272G>A c.(271-273)gGa>gAa p.G91E TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron SubName: Full=V_segment translation product; Flags: Fragment; AGAGACGGATCCCTCAGGCCT 0.572000 53 33 0 0 1 0 0 OR6C1 390321 broad.mit.edu 37 12 55715062 55715062 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:55715062C>T uc010spi.2 + 0 679 c.679C>T c.(679-681)Cct>Tct p.P227S NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA. 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 TTTGAGAATTCCTTCTACTAG 0.378000 40 16 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090748 9090748 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9090748G>A uc002mkp.3 - 0 1271 c.1067C>T c.(1066-1068)tCc>tTc p.S356F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 356 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S356P(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGCTTTGTGGATATTGATGG 0.483000 23 12 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60780970 60780970 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:60780970G>A uc001nqq.3 + 6 1451 c.1226G>A c.(1225-1227)gGa>gAa p.G409E CD6_uc009yni.3_Missense_Mutation_p.G308E|CD6_uc009ynj.3_Missense_Mutation_p.G286E|CD6_uc001nqp.3_Missense_Mutation_p.G409E|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.G409E|CD6_uc001nqt.3_Missense_Mutation_p.G409E NM_006725 NP_006716 P30203 CD6_HUMAN Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA. 409 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 ATCGTTCTGGGAATTCTCCTC 0.458000 132 63 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9002624 9002624 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9002624G>A uc002mkp.3 - 50 40396 c.40192C>T c.(40192-40194)Cgt>Tgt p.R13398C MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R215C|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13400 SEA 9. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.R13398C(1)|p.R83C(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGTCAGGACGATGGGTGCAG 0.572000 40 30 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202270330 202270330 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:202270330C>T uc001gxu.3 + 8 896 c.896C>T c.(895-897)tCg>tTg p.S299L LGR6_uc001gxv.3_Missense_Mutation_p.S247L|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.S160L|LGR6_uc009xac.1_Non-coding_Transcript NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA. 299 integral to membrane|plasma membrane protein-hormone receptor activity p.S299_A300insGRS(1)|p.299_300insGRS(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GTGGGAAGATCGGCATTCCAG 0.488000 23 16 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290653 141290653 + Splice_Site SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:141290653C>T uc022cfj.1 - 1 1122 c.1122_splice c.e1+1 p.*374_splice MAGEC2_uc004fbu.2_Silent_p.*374* NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA. 0 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) TCCTAGACTTCACTCAGAAAA 0.507000 HNSCC(46;0.14) 9 22 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8465562 8465562 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:8465562C>T uc003zkk.3 - 31 4361 c.3618G>A c.(3616-3618)ggG>ggA p.G1206G PTPRD_uc003zkp.3_Silent_p.G795G|PTPRD_uc003zkq.3_Silent_p.G795G|PTPRD_uc003zkr.3_Silent_p.G790G|PTPRD_uc003zks.3_Silent_p.G785G|PTPRD_uc022bdj.1_Silent_p.G792G NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 1206 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCTTGTCATCCCCCAGGGTGA 0.428000 TSP Lung(15;0.13) 77 45 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97251387 97251387 + Splice_Site SNP A T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:97251387A>T uc010how.1 + 11 2429 c.2386_splice c.e11+1 p.R796_splice EPHA6_uc011bgo.1_Splice_Site|EPHA6_uc011bgp.1_Splice_Site_p.R162_splice|EPHA6_uc003drs.4_Splice_Site_p.R188_splice|EPHA6_uc003drr.4_Splice_Site_p.R188_splice|EPHA6_uc003drt.3_Splice_Site_p.R188_splice|EPHA6_uc010hox.1_Splice_Site NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 701 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGTCACCAAAAGTAAGTTACT 0.368000 21 11 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121761118 121761118 + Silent SNP G A A rs142918972 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:121761118G>A uc003ksw.1 + 4 1280 c.1074G>A c.(1072-1074)gcG>gcA p.A358A SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Silent_p.A358A|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Silent_p.A405A|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.A52A|SNCAIP_uc010jcx.1_Intron NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 358 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) ATATTGCGGCGTCACAGGGAC 0.458000 73 48 0 0 1 0 0 TNFSF10 8743 broad.mit.edu 37 3 172241143 172241143 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:172241143C>T uc003fid.3 - 0 155 c.32G>A c.(31-33)aGc>aAc p.S11N TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.S11N|TNFSF10_uc010hwu.2_Missense_Mutation_p.S11N NM_003810 NP_003801 P50591 TNF10_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA. 11 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CTGTCCCAGGCTGGGTCCCCC 0.547000 66 30 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33340583 33340583 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:33340583C>T uc002yph.3 + 5 1256 c.896C>T c.(895-897)tCt>tTt p.S299F NM_014586 NP_055401 P57058 HUNK_HUMAN Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA. 299 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 TTCCTGCGCTCTCTCCTGGAA 0.527000 75 22 0 0 1 0 0 TRBV2 28620 broad.mit.edu 37 7 142000977 142000977 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:142000977C>T uc011kro.1 + 1 114 c.69C>T c.(67-69)gtC>gtT p.V23V TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; AACCTGAAGTCACCCAGACTC 0.418000 21 5 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77170515 77170515 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:77170515C>T uc010xfg.2 + 1 693 c.240C>T c.(238-240)atC>atT p.I80I NFATC1_uc002lnc.1_Silent_p.I80I|NFATC1_uc010xff.1_Silent_p.I80I|NFATC1_uc002lnd.3_Silent_p.I80I|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Silent_p.I80I|NFATC1_uc010xfi.1_Silent_p.I67I|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Silent_p.I67I|NFATC1_uc002lng.3_Silent_p.I67I|NFATC1_uc010xfk.2_Silent_p.I67I NM_006162 NP_006153 O95644 NFAC1_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA. 80 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CGGGCATCATCCCGCCGGCGG 0.711000 47 56 0 0 1 0 0 GTSE1 51512 broad.mit.edu 37 22 46724658 46724658 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:46724658C>T uc011aqy.2 + 9 2010 c.1798C>T c.(1798-1800)Cct>Tct p.P600S GTSE1_uc011aqz.2_Missense_Mutation_p.P447S|GTSE1_uc003bhm.1_Missense_Mutation_p.P225S|GTSE1_uc003bhn.3_5'Flank|BC069212_uc011ara.2_5'Flank|BC069212_uc003bho.4_5'Flank NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA. 581 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CAGGGGTTCTCCTCCTTCCCG 0.493000 58 65 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24922810 24922810 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:24922810C>T uc001ywo.3 + 0 2270 c.1796C>T c.(1795-1797)tCt>tTt p.S599F NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 599 cell differentiation|multicellular organismal development|spermatogenesis p.S598R(1) 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) AGAGTGAGCTCTCTCCCAAAT 0.468000 41 24 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27840387 27840387 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:27840387C>T uc001ric.2 + 23 2712 c.2335C>T c.(2335-2337)Ctg>Ttg p.L779L PPFIBP1_uc010sjr.1_Silent_p.L610L|PPFIBP1_uc001rib.2_Silent_p.L773L|PPFIBP1_uc001ria.3_Silent_p.L748L|PPFIBP1_uc001rid.2_Silent_p.L626L|PPFIBP1_uc001rif.2_Silent_p.L286L|TRNA_Lys_uc021qwh.1_5'Flank NM_177444 NP_803193 Q86W92 LIPB1_HUMAN Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA. 779 SAM 2. cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) CATCCAGGTCCTGAGGATCAA 0.448000 56 46 0 0 1 0 0 CLPX 10845 broad.mit.edu 37 15 65458980 65458980 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:65458980G>A uc002aom.3 - 3 574 c.502C>T c.(502-504)Ccc>Tcc p.P168S CLPX_uc010uiu.2_Non-coding_Transcript|CLPX_uc010bhg.1_Missense_Mutation_p.P168S NM_006660 NP_006651 O76031 CLPX_HUMAN Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA. 168 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 TTCTTAGGGGGAGGTGGTGGT 0.388000 89 37 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064314 9064315 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9064314_9064315GG>AA uc002mkp.3 - 2 23335_23336 c.23131_23132CC>TT c.(23131-23133)ccc>TTc p.P7711F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7713 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P7711P(1)|p.I7710I(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGAGAGGGGGGGATATGTGCT 0.545000 34 26 0 0 1 0 0 CCDC64 92558 broad.mit.edu 37 12 120509467 120509467 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:120509467C>T uc001txl.1 + 4 976 c.951C>T c.(949-951)tcC>tcT p.S317S CCDC64_uc001txk.2_Silent_p.S317S|CCDC64_uc009zwv.1_Non-coding_Transcript|CCDC64_uc010sze.1_Silent_p.S61S|CCDC64_uc010szf.1_5'UTR NM_207311 NP_997194 Q6ZP65 BICR1_HUMAN Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA. 317 Golgi to secretory granule transport|neuron projection development centrosome Rab GTPase binding|dynactin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGCGTCTCTCCTGCCGACAGC 0.527000 29 18 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81741521 81741521 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:81741521C>T uc001szo.2 - 17 2184 c.2023G>A c.(2023-2025)Gag>Aag p.E675K PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E601K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E576K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E675K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E675K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E657K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E675K|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.E242K|PPFIA2_uc021rbf.1_5'UTR NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 601 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GCACGCAACTCTGTAGATTCT 0.398000 33 26 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68950487 68950487 + Missense_Mutation SNP C T T rs138740482 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr8:68950487C>T uc003xxv.1 + 6 826 c.799C>T c.(799-801)Ctt>Ttt p.L267F PREX2_uc003xxu.1_Missense_Mutation_p.L267F|PREX2_uc011lez.1_Missense_Mutation_p.L202F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 267 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding p.L267F(2) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GGTGTTTTTTCTTTTCGATAA 0.408000 3 24 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140857474 140857474 + Missense_Mutation SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140857474C>A uc003lkv.2 + 0 1906 c.1791C>A c.(1789-1791)gaC>gaA p.D597E 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_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.D597E|PCDHGC5_uc003lkw.2_Intron NM_002588 NP_002579 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), 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) TAGGCTGGGACGCGGATGCAG 0.602000 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 14 1.5842e-08 1.59735e-08 1 1 0 DSC3 1825 broad.mit.edu 37 18 28598119 28598119 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:28598119G>A uc002kwj.4 - 8 1336 c.1181C>T c.(1180-1182)aCc>aTc p.T394I DSC3_uc002kwi.4_Missense_Mutation_p.T394I NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 394 Cadherin 3. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CTTTAAAATGGTAAAATTGAC 0.313000 75 26 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21467023 21467023 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:21467023G>A uc003cce.3 - 5 1221 c.813C>T c.(811-813)atC>atT p.I271I NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 271 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GCACATCACAGATTTCACAGT 0.433000 68 39 0 0 1 0 0 HS6ST3 266722 broad.mit.edu 37 13 97484941 97484941 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr13:97484941C>T uc001vmw.3 + 1 929 c.905C>T c.(904-906)aCc>aTc p.T302I NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA. 302 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) ATGGATTGCACCTACAACCTG 0.542000 43 19 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160721238 160721238 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:160721238C>T uc003lys.1 - 10 1607 c.1389G>A c.(1387-1389)aaG>aaA p.K463K GABRB2_uc011deh.1_Silent_p.K264K|GABRB2_uc003lyr.1_Silent_p.K425K|GABRB2_uc003lyt.1_Silent_p.K425K NM_021911 NP_068711 P47870 GBRB2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA. 463 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGCGACTTTTCTTTTGCGCCA 0.522000 21 14 0 0 1 0 0 SLC9A7 84679 broad.mit.edu 37 X 46466476 46466476 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:46466476C>T uc004dgu.1 - 16 2097 c.2089G>A c.(2089-2091)Gaa>Aaa p.E697K NM_032591 NP_115980 Q96T83 SL9A7_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA. 697 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 TCCAGCACTTCCTCCGAGCTG 0.602000 2 17 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101598822 101598822 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:101598822C>T uc010yvt.1 + 15 1809 c.1807C>T c.(1807-1809)Cag>Tag p.Q603* NPAS2_uc002tap.1_Nonsense_Mutation_p.Q538*|NPAS2_uc010fit.1_Nonsense_Mutation_p.Q116* NM_002518 NP_002509 Q99743 NPAS2_HUMAN Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA. 538 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTGCCTGGTCCAGGACTCCAA 0.627000 21 7 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38881697 38881697 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:38881697G>A uc003jln.2 + 3 651 c.249G>A c.(247-249)ggG>ggA p.G83G OSMR_uc003jlm.2_Silent_p.G83G NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 83 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GCTTTTAGGGGAATTACAGCA 0.423000 36 26 0 0 1 0 0 PNCK 139728 broad.mit.edu 37 X 152937353 152937353 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:152937353G>A uc011myu.2 - 4 831 c.645C>T c.(643-645)atC>atT p.I215I PNCK_uc011myt.2_Silent_p.I149I|PNCK_uc004fhz.4_Silent_p.I30I|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_Silent_p.I159I|PNCK_uc011myw.2_Silent_p.I159I NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA. 132 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCGGTGCACGATCCCCAGGC 0.667000 3 7 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136898795 136898796 + Missense_Mutation DNP AC TT TT TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:136898795_136898796AC>TT uc004cew.3 - 11 2285_2286 c.2097_2098GT>AA c.(2095-2100)ccgtcc>ccAAcc p.S700T NM_007371 NP_031397 Q15059 BRD3_HUMAN Homo sapiens bromodomain containing 3 (BRD3), mRNA. 700 Ser-rich. nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) CTGAGCCTGGACGGGCCCCCTG 0.644000 T C15orf55 lethal midline carcinoma of young people 4 6 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35043234 35043234 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:35043234A>G uc003zvw.3 + 1 637 c.608A>G c.(607-609)cAc>cGc p.H203R C9orf131_uc003zvu.3_Missense_Mutation_p.H155R|C9orf131_uc003zvv.3_Missense_Mutation_p.H130R|C9orf131_uc003zvx.3_Missense_Mutation_p.H168R NM_203299 NP_976044 Q5VYM1 CI131_HUMAN Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA. 203 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CCCTCTCTGCACAGCGAGTCC 0.537000 58 17 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21309087 21309087 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:21309087C>T uc001iqk.3 - 2 562 c.208G>A c.(208-210)Gaa>Aaa p.E70K NEBL_uc021pnu.1_Missense_Mutation_p.E70K NM_213569 NP_998734 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 2, mRNA. 734 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CGAAGATTTTCAGGTGTATCT 0.408000 63 23 0 0 1 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518245 84518245 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:84518245G>A uc010ffz.1 + 0 440 c.303G>A c.(301-303)atG>atA p.M101I Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA. AGAAGGACATGAAGAAAGCCA 0.468000 36 18 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:58385762C>G uc002qqo.2 - 2 1268 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN Homo sapiens zinc finger protein 814 (ZNF814), mRNA. 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(4) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 6 4 0 0 1 0 0 ULK2 9706 broad.mit.edu 37 17 19699555 19699555 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:19699555G>A uc002gwm.4 - 18 2359 c.1850C>T c.(1849-1851)tCc>tTc p.S617F ULK2_uc002gwn.3_Missense_Mutation_p.S617F NM_001142610 NP_055498 Q8IYT8 ULK2_HUMAN Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA. 617 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|skin(4)|stomach(1) 6 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) TAACAGGTTGGAAGATGCTTG 0.413000 33 23 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174573 63174573 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:63174573G>A uc001xfx.3 - 10 2671 c.2620C>T c.(2620-2622)Cgt>Tgt p.R874C KCNH5_uc001xfy.3_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 874 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTATCCAAACGAAGGTCACTT 0.507000 52 25 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77895637 77895637 + Missense_Mutation SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:77895637G>T uc002lnw.3 + 3 2796 c.2341G>T c.(2341-2343)Gat>Tat p.D781Y NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 781 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CACCTTCCATGATATCAAAGG 0.468000 111 38 1.30015e-28 1.32322e-28 1 1 0 SH2B2 10603 broad.mit.edu 37 7 101960915 101960916 + Missense_Mutation DNP GG AA AA TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:101960915_101960916GG>AA uc011kko.2 + 6 1426_1427 c.1381_1382GG>AA c.(1381-1383)ggc>AAc p.G461N NM_020979 NP_066189 O14492 SH2B2_HUMAN Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA. 505 SH2. blood coagulation|insulin receptor signaling pathway|intracellular signal transduction cytosol|plasma membrane JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 9 GGAGTCAGGGGGCTCGGCCGAC 0.614000 39 26 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61832162 61832162 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:61832162G>A uc001jky.3 - 36 8815 c.8477C>T c.(8476-8478)tCt>tTt p.S2826F ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 2826 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTGCTGCTCAGAAAAAGAGTC 0.413000 56 26 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12647717 12647717 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:12647717G>A uc002gno.2 + 7 1234 c.935G>A c.(934-936)cGa>cAa p.R312Q MYOCD_uc002gnn.2_Missense_Mutation_p.R312Q|MYOCD_uc002gnp.1_Missense_Mutation_p.R216Q|MYOCD_uc002gnq.2_Missense_Mutation_p.R31Q NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 312 Gln-rich. 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) cagcaacaCCGATTCAGCTAC 0.572000 8 6 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33293756 33293756 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:33293756C>T uc001wrq.3 + 12 6907 c.6737C>T c.(6736-6738)cCt>cTt p.P2246L NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 2246 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAGTTTACTCCTTCAAAGCTT 0.438000 22 10 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263174 248263174 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:248263174C>T uc001ids.3 + 2 834 c.497C>T c.(496-498)cCc>cTc p.P166L OR2L13_uc021pmc.1_Missense_Mutation_p.P166L NM_175911 NP_787107 Q8N349 OR2LD_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA. 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CTTCATATTCCCTACTGCAGG 0.458000 121 54 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007810 6007810 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:6007810G>A uc001mcd.2 - 0 406 c.351C>T c.(349-351)atC>atT p.I117I NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA. 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G116E(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) AGAACATCTGGATCAGGCAGA 0.542000 15 5 0 0 1 0 0 EYA3 2140 broad.mit.edu 37 1 28326479 28326479 + Missense_Mutation SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:28326479C>A uc001bpi.2 - 11 1257 c.1075G>T c.(1075-1077)Gac>Tac p.D359Y EYA3_uc010ofs.2_Missense_Mutation_p.D306Y|EYA3_uc010oft.2_Missense_Mutation_p.D313Y|EYA3_uc001bpj.3_Missense_Mutation_p.D313Y|EYA3_uc001bpk.2_Non-coding_Transcript|EYA3_uc010ofu.2_Non-coding_Transcript NM_001990 NP_001981 Q99504 EYA3_HUMAN Homo sapiens eyes absent homolog 3 (Drosophila) (EYA3), mRNA. 359 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) ACCTCTAAGTCATTGAAAAAT 0.318000 55 28 1.36615e-20 1.38765e-20 1 1 0 TTN 7273 broad.mit.edu 37 2 179412731 179412731 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179412731C>T uc021vsy.1 - 287 86143 c.85918G>A c.(85918-85920)Gag>Aag p.E28640K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E22335K|TTN_uc021vta.1_Missense_Mutation_p.E22268K|TTN_uc021vtb.1_Missense_Mutation_p.E22143K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 29567 Fibronectin type-III 108. 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) ATTTGAGGCTCCTTAATGATG 0.453000 9 10 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377795 50377795 + Silent SNP A C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:50377795A>C uc004dpe.2 - 3 1304 c.1278T>G c.(1276-1278)ctT>ctG p.L426L SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Silent_p.L310L NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA. 426 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CCCTGGTATCAAGGTGCACAT 0.577000 3 9 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138662931 138662931 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:138662931C>T uc011mdq.2 + 17 2072 c.1998C>T c.(1996-1998)atC>atT p.I666I KCNT1_uc011mdr.2_Silent_p.I493I|KCNT1_uc010nbf.3_Silent_p.I621I|KCNT1_uc004cgo.1_Silent_p.I415I NM_020822 NP_065873 B7ZVY4 B7ZVY4_HUMAN Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA. 666 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) ACAGCATCATCGCCTCCATGG 0.697000 7 4 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115754817 115754817 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:115754817C>T uc003ibu.3 - 11 3020 c.2341G>A c.(2341-2343)Gaa>Aaa p.E781K NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 781 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TTCTGGACTTCATCCATCACA 0.368000 34 20 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11301096 11301096 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:11301096C>T uc010hdr.3 + 1 715 c.373C>T c.(373-375)Cgc>Tgc p.R125C HRH1_uc010hds.3_Missense_Mutation_p.R125C|HRH1_uc010hdt.3_Missense_Mutation_p.R125C|HRH1_uc003bwb.4_Missense_Mutation_p.R125C|HRH1_uc021wtb.1_Missense_Mutation_p.R125C NM_001098213 NP_001091683 P35367 HRH1_HUMAN Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA. 125 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) GTGCATTGATCGCTACCGCTC 0.552000 103 80 0 0 1 0 0 EFHC2 80258 broad.mit.edu 37 X 44108098 44108098 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:44108098C>T uc004dgb.4 - 5 1012 c.923G>A c.(922-924)gGt>gAt p.G308D EFHC2_uc022bvg.1_5'UTR NM_025184 NP_079460 Q5JST6 EFHC2_HUMAN Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA. 308 DM10 2. calcium ion binding p.G308D(2) NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 TATAAAGTCACCATATGAATT 0.398000 5 13 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157873990 157873990 + Splice_Site SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:157873990C>T uc003wno.3 - 11 1844 c.1723_splice c.e11+1 p.V575_splice PTPRN2_uc003wnp.3_Splice_Site_p.V558_splice|PTPRN2_uc003wnq.3_Splice_Site_p.V546_splice|PTPRN2_uc003wnr.3_Splice_Site_p.V537_splice|PTPRN2_uc011kwa.2_Splice_Site_p.V598_splice NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 575 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ACAGCCTCACCTGTGGCCTTC 0.532000 67 17 0 0 1 0 0 ESR2 2100 broad.mit.edu 37 14 64749606 64749606 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:64749606G>A uc001xha.1 - 1 566 c.98C>T c.(97-99)cCt>cTt p.P33L ESR2_uc001xgy.2_Missense_Mutation_p.P33L|ESR2_uc001xgu.3_Missense_Mutation_p.P33L|ESR2_uc001xgv.3_Missense_Mutation_p.P33L|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.P33L|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.P33L|ESR2_uc001xgz.2_Missense_Mutation_p.P33L NM_001437 NP_001428 Q92731 ESR2_HUMAN Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA. 33 Modulating. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) ATAGGAGGAAGGTATGTATAT 0.443000 57 34 0 0 1 0 0 ASGR2 433 broad.mit.edu 37 17 7004974 7004974 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:7004974G>A uc002gep.3 - 8 1123 c.856C>T c.(856-858)Cgc>Tgc p.R286C ASGR2_uc002gen.1_Missense_Mutation_p.R267C|ASGR2_uc002geo.2_Missense_Mutation_p.R281C|ASGR2_uc002geq.3_Missense_Mutation_p.R262C|ASGR2_uc002ger.3_Missense_Mutation_p.R286C NM_001181 NP_550434 P07307 ASGR2_HUMAN Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA. 286 C-type lectin. cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) TCGTTCCAGCGGCCATCCGGC 0.597000 48 29 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6381376 6381376 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:6381376G>A uc002gdd.4 - 7 970 c.819C>T c.(817-819)ttC>ttT p.F273F PITPNM3_uc010cln.3_Silent_p.F237F|PITPNM3_uc002gdc.4_5'UTR NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA. 273 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2) 36 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) AGATGGCATCGAAGGCCAGGA 0.672000 56 18 0 0 1 0 0 AADACL2 344752 broad.mit.edu 37 3 151451916 151451916 + Nonsense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:151451916G>A uc003ezc.3 + 0 213 c.93G>A c.(91-93)tgG>tgA p.W31* MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR NM_207365 NP_997248 Q6P093 ADCL2_HUMAN Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA. 31 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AAGAAAGCTGGAAAATAATGG 0.378000 27 16 0 0 1 0 0 ODZ2 57451 broad.mit.edu 37 5 167645358 167645358 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:167645358C>T uc010jjd.3 + 22 4435 c.4435C>T c.(4435-4437)Ctc>Ttc p.L1479F ODZ2_uc003lzr.4_Missense_Mutation_p.L1249F|ODZ2_uc003lzt.4_Missense_Mutation_p.L852F|ODZ2_uc010jje.3_Missense_Mutation_p.L743F NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. p.M1478L(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CACTGGGGTCCTCTACATCAC 0.532000 99 37 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31311936 31311936 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:31311936G>A uc010dmg.1 + 8 939 c.884G>A c.(883-885)gGa>gAa p.G295E ASXL3_uc002kxq.2_Missense_Mutation_p.G2E NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TCCTAGATGGGAAGTGATGGA 0.403000 67 23 0 0 1 0 0 KRT222 125113 broad.mit.edu 37 17 38816422 38816422 + Missense_Mutation SNP T G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:38816422T>G uc002hvc.2 - 2 328 c.263A>C c.(262-264)cAg>cCg p.Q88P KRT222_uc002hvb.2_Missense_Mutation_p.Q48P|KRT222_uc010cxc.3_Missense_Mutation_p.Q48P NM_152349 NP_689562 Q8N1A0 KT222_HUMAN Homo sapiens keratin 222 (KRT222), mRNA. 88 intermediate filament structural molecule activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 CTGGTAATGCTGCTCGCTGGC 0.433000 49 30 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114189206 114189206 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:114189206C>T uc001edk.3 + 11 2278 c.2097C>T c.(2095-2097)tcC>tcT p.S699S MAGI3_uc001edh.3_Silent_p.S724S|MAGI3_uc001edi.4_Silent_p.S699S|MAGI3_uc010owm.2_Silent_p.S724S|MAGI3_uc001edj.3_Silent_p.S420S NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 724 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGTCAGGATCCCCAAAATTGG 0.388000 40 30 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94113360 94113360 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:94113360C>T uc001pet.2 - 3 1399 c.1227G>A c.(1225-1227)ggG>ggA p.G409G NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA. 409 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GGTCTGTCTTCCCAGACTGGA 0.572000 25 15 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85984695 85984695 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:85984695G>A uc010qmc.2 - 1 294 c.286C>T c.(286-288)Cta>Tta p.L96L LRIT2_uc001kcy.3_Silent_p.L96L NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA. 96 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 AGGGCTCCTAGGTGGATCACA 0.507000 64 45 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70956752 70956752 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:70956752C>T uc001swb.4 - 13 3416 c.3386G>A c.(3385-3387)aGa>aAa p.R1129K PTPRB_uc010sto.2_Missense_Mutation_p.R1039K|PTPRB_uc010stp.2_Missense_Mutation_p.R1039K|PTPRB_uc001swc.4_Missense_Mutation_p.R1347K|PTPRB_uc001swa.4_Missense_Mutation_p.R1259K|PTPRB_uc001swd.4_Missense_Mutation_p.R1346K|PTPRB_uc009zrr.2_Missense_Mutation_p.R1226K NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1129 Fibronectin type-III 13. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AACTTGAGCTCTCTCCTGGAG 0.517000 32 17 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158911876 158911876 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:158911876C>T uc001ftb.3 + 4 939 c.689C>T c.(688-690)tCc>tTc p.S230F PYHIN1_uc001ftc.3_Missense_Mutation_p.S221F|PYHIN1_uc001ftd.3_Missense_Mutation_p.S230F|PYHIN1_uc001fte.3_Missense_Mutation_p.S221F NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA. 230 HIN-200. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AAATATGAATCCTCAGAAAAT 0.383000 34 19 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4471506 4471506 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:4471506G>A uc001lyz.2 + 0 982 c.937G>A c.(937-939)Gat>Aat p.D313N NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA. 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CCCAAGAAAGGATATGTAGAG 0.478000 12 12 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33329591 33329591 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:33329591G>A uc002xav.3 - 11 7040 c.4469C>T c.(4468-4470)tCg>tTg p.S1490L NCOA6_uc002xaw.3_Missense_Mutation_p.S1490L|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.S1490L|NCOA6_uc021wcf.1_Intron NM_014071 NP_054790 Q14686 NCOA6_HUMAN Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA. 1490 DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 TTGACTTAACGATGTTGGTGC 0.473000 42 29 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117504034 117504034 + Silent SNP C T T rs147606477 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:117504034C>T uc001egv.1 + 4 1520 c.1383C>T c.(1381-1383)agC>agT p.S461S NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA. 461 Ig-like C2-type 4. Golgi apparatus|endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TGGTGACCAGCGAGCTGCTTG 0.547000 61 27 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196729643 196729643 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:196729643G>A uc002utj.4 - 40 6837 c.6736C>T c.(6736-6738)Cat>Tat p.H2246Y NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2246 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAAAGCTCATGAAAATCTTCA 0.398000 34 23 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26463416 26463416 + Missense_Mutation SNP A G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:26463416A>G uc001isn.2 + 29 4583 c.4223A>G c.(4222-4224)aAg>aGg p.K1408R MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 1408 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AACATCAAGAAGAAGGATAAC 0.328000 59 29 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62300757 62300757 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:62300757G>A uc001ntl.3 - 4 1432 c.1132C>T c.(1132-1134)Cca>Tca p.P378S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 378 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCAAGTGATGGCCCAGTGATT 0.597000 36 14 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17370816 17370816 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:17370816C>T uc002nfs.1 - 4 771 c.658G>A c.(658-660)Gat>Aat p.D220N USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.D156N|USHBP1_uc010eam.1_Missense_Mutation_p.D148N NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA. 220 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 AAGAGGGAATCCTGCAGCTCT 0.597000 22 4 0 0 1 0 0 FUT3 2525 broad.mit.edu 37 19 5844280 5844280 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:5844280C>T uc002mdk.2 - 1 668 c.571G>A c.(571-573)Gag>Aag p.E191K FUT3_uc002mdm.2_Missense_Mutation_p.E191K|FUT3_uc002mdj.2_Missense_Mutation_p.E191K|FUT3_uc002mdl.2_Missense_Mutation_p.E191K|FUT3_uc021unn.1_Missense_Mutation_p.E191K NM_001097641 NP_001091110 P21217 FUT3_HUMAN Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA. 191 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 GCCACCAGCTCGGTCTTGGCC 0.667000 27 10 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66945846 66945846 + Silent SNP G A A rs142024712 byFrequency TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:66945846G>A uc002eql.3 - 12 1940 c.1746C>T c.(1744-1746)ttC>ttT p.F582F CDH16_uc010cdy.3_Silent_p.F582F|CDH16_uc021tjx.1_Silent_p.F582F|CDH16_uc002eqm.3_Silent_p.F485F NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 582 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TGGTCAGCAGGAAAGAGCCGG 0.622000 40 24 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39095333 39095333 + Missense_Mutation SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:39095333C>A uc002rrf.3 - 1 314 c.215G>T c.(214-216)cGc>cTc p.R72L DHX57_uc002rre.3_5'Flank|DHX57_uc002rrg.3_Missense_Mutation_p.R72L NM_198963 NP_945314 Q6P158 DHX57_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA. 72 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) CCTGGAAGGGCGCCTTGATTC 0.458000 41 21 3.08376e-08 3.10784e-08 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31325980 31325980 + Missense_Mutation SNP A C C TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:31325980A>C uc010dmg.1 + 11 6223 c.6168A>C c.(6166-6168)caA>caC p.Q2056H ASXL3_uc002kxq.2_Missense_Mutation_p.Q1763H NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 2056 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ATCAAAAACAACCTCCAGTTA 0.532000 20 20 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6833197 6833197 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:6833197C>T uc002mfu.1 + 15 1608 c.1511C>T c.(1510-1512)tCc>tTc p.S504F VAV1_uc010xjh.1_Missense_Mutation_p.S472F|VAV1_uc010dva.1_Missense_Mutation_p.S504F|VAV1_uc002mfv.1_Missense_Mutation_p.S449F NM_005428 NP_005419 P15498 VAV_HUMAN Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA. 504 PH. T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CCTGCCAGCTCCAACATCTAT 0.433000 25 10 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13850786 13850786 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13850786C>T uc003jfd.2 - 30 5131 c.5089G>A c.(5089-5091)Gaa>Aaa p.E1697K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1697 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGGCATATTTCCAACTGGTCC 0.493000 Kartagener syndrome 27 11 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70512721 70512721 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:70512721C>T uc001xly.3 - 7 3481 c.2727G>A c.(2725-2727)tgG>tgA p.W909* SLC8A3_uc001xlv.3_Nonsense_Mutation_p.W280*|SLC8A3_uc001xlu.3_Nonsense_Mutation_p.W266*|SLC8A3_uc001xlw.3_Nonsense_Mutation_p.W906*|SLC8A3_uc001xlx.3_Nonsense_Mutation_p.W907*|SLC8A3_uc001xlz.3_Nonsense_Mutation_p.W903*|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 909 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TGTAGAGGAGCCACAGGCTCA 0.592000 OREG0022773 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 5 0 0 1 0 0 PYCR1 5831 broad.mit.edu 37 17 79892281 79892281 + Missense_Mutation SNP G A A rs138398362 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:79892281G>A uc002kct.1 - 6 800 c.718C>T c.(718-720)Cat>Tat p.H240Y PYCR1_uc002kcp.3_Missense_Mutation_p.H240Y|PYCR1_uc002kcr.1_Missense_Mutation_p.H240Y|PYCR1_uc010wvd.1_Missense_Mutation_p.H267Y|PYCR1_uc002kcu.1_Missense_Mutation_p.H209Y|PYCR1_uc010wve.1_Missense_Mutation_p.H161Y NM_006907 NP_008838 P32322 P5CR1_HUMAN Homo sapiens pyrroline-5-carboxylate reductase 1 (PYCR1), transcript variant 1, mRNA. 240 cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) TGCAAGGCATGGATGGTGGCC 0.652000 3 5 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73049010 73049010 + RNA SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:73049010G>A uc004ebn.2 + 0 c.36971G>A XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. TGAAGACTCAGCTCTCTGCAC 0.408000 6 13 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089000 9089000 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:9089000T>A uc002mkp.3 - 0 3019 c.2815A>T c.(2815-2817)Ata>Tta p.I939L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 939 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 AGGTGAGATATTTTAGGAAGA 0.483000 32 27 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86590585 86590585 + Silent SNP T G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:86590585T>G uc001dlj.3 - 2 1509 c.1434A>C c.(1432-1434)ctA>ctC p.L478L COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Silent_p.L478L NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 478 cell adhesion collagen extracellular matrix structural constituent p.D477Y(1) NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) GCATTGTATTTAGATCCTCAT 0.333000 35 19 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10430078 10430078 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:10430078G>A uc010coi.3 - 29 4153 c.4025C>T c.(4024-4026)tCc>tTc p.S1342F AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.S1342F|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1342 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GTCGTGGCGGGAAGACTGCAG 0.522000 60 35 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152507129 152507129 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:152507129C>T uc021vrb.1 - 50 7215 c.7186G>A c.(7186-7188)Gat>Aat p.D2396N NEB_uc002txu.3_Missense_Mutation_p.D2396N|NEB_uc021vrc.1_Missense_Mutation_p.D2396N|NEB_uc010fnx.3_Missense_Mutation_p.D2396N|NEB_uc021vrd.1_Missense_Mutation_p.D2396N NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 2396 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGCACAACATCGTTCTGATCA 0.388000 135 78 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148407305 148407305 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:148407305C>T uc003lpu.3 - 10 2142 c.1990G>A c.(1990-1992)Gga>Aga p.G664R SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.G308R|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.G211R|SH3TC2_uc010jgx.3_Missense_Mutation_p.G657R|SH3TC2_uc003lpv.1_Missense_Mutation_p.G211R|SH3TC2_uc011dbz.1_Missense_Mutation_p.G549R NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA. 664 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGGGTGTCCAGAGAGGAGC 0.597000 38 23 0 0 1 0 0 ANKRD29 147463 broad.mit.edu 37 18 21181241 21181241 + Missense_Mutation SNP A T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:21181241A>T uc002kun.3 - 9 1010 c.855T>A c.(853-855)aaT>aaA p.N285K ANKRD29_uc002kuo.3_Missense_Mutation_p.N252K NM_173505 NP_775776 Q8N6D5 ANR29_HUMAN Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA. 285 breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1) 13 all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127) ATATACGTTCATTTTTGGTTA 0.428000 32 25 0 0 1 0 0 VPS72 6944 broad.mit.edu 37 1 151162562 151162562 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:151162562G>A uc001exe.1 - 0 79 c.36C>T c.(34-36)acC>acT p.T12T VPS72_uc001exf.1_Silent_p.T12T NM_005997 NP_005988 Q15906 VPS72_HUMAN Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA. 12 chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGTTCCCAGCGGTCTTCCGGG 0.632000 55 38 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16276417 16276417 + Missense_Mutation SNP G T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:16276417G>T uc002den.4 - 16 2136 c.2099C>A c.(2098-2100)gCc>gAc p.A700D ABCC6_uc010bvo.3_Non-coding_Transcript NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 700 ABC transporter 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CTGCACCCAGGCCTCCTGGGG 0.577000 35 17 3.28513e-13 3.32213e-13 1 1 0 ZBTB40 9923 broad.mit.edu 37 1 22848016 22848016 + Nonsense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:22848016C>T uc001bft.2 + 15 3587 c.3076C>T c.(3076-3078)Cga>Tga p.R1026* ZBTB40_uc001bfu.2_Nonsense_Mutation_p.R1026*|ZBTB40_uc009vqi.1_Nonsense_Mutation_p.R914* NM_001083621 NP_055685 Q9NUA8 ZBT40_HUMAN Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA. 1026 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GTACCACAATCGAACCCACCA 0.498000 41 26 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176314569 176314569 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:176314569C>T uc003mfa.3 - 10 1575 c.1483G>A c.(1483-1485)Gat>Aat p.D495N HK3_uc003mez.3_Missense_Mutation_p.D51N NM_002115 NP_002106 P52790 HXK3_HUMAN Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA. 495 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCAGTTGATCATGGTTCAAC 0.682000 27 21 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70991364 70991364 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:70991364G>A uc021rvs.1 - 0 261 c.261C>T c.(259-261)ttC>ttT p.F87F ADAM20_uc001xme.3_Silent_p.F87F NM_003814 NP_003805 O43506 ADA20_HUMAN Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA. 37 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) CTGGAGAAGTGAAATACTGGG 0.552000 33 21 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56246224 56246224 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr18:56246224G>A uc002lhj.4 - 3 1998 c.1784C>T c.(1783-1785)tCc>tTc p.S595F NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 595 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ATCAGCATGGGAACTCCGACC 0.488000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 29 0 0 1 0 0 QRSL1 55278 broad.mit.edu 37 6 107102665 107102665 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:107102665C>T uc003prm.3 + 7 1026 c.910C>T c.(910-912)Ctc>Ttc p.L304F NM_018292 NP_060762 Q9H0R6 QRSL1_HUMAN Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA. 304 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) AGCTGCTGACCTCTTTGAGTC 0.403000 23 28 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515104 56515104 + Missense_Mutation SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:56515104C>T uc002qmj.3 + 1 85 c.85C>T c.(85-87)Cct>Tct p.P29S NLRP5_uc002qmi.3_Missense_Mutation_p.P29S NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 29 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTCCACAGGTCCTACTTGCTC 0.428000 37 15 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54307210 54307210 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr15:54307210G>A uc021smr.1 + 0 2110 c.2110G>A c.(2110-2112)Gat>Aat p.D704N UNC13C_uc021sms.1_Missense_Mutation_p.D704N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 704 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTGCCACAGTGATCTTCAAGA 0.428000 7 6 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81111130 81111130 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:81111130G>A uc001szg.2 + 0 423 c.288G>A c.(286-288)ctG>ctA p.L96L NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 96 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity p.L96L(2) central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GGAGGCGCCTGAAGAAGGTCA 0.602000 28 13 0 0 1 0 0 CAMK1G 57172 broad.mit.edu 37 1 209778994 209778994 + Missense_Mutation SNP A T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:209778994A>T uc001hhd.3 + 4 512 c.410A>T c.(409-411)aAt>aTt p.N137I CAMK1G_uc001hhf.4_Missense_Mutation_p.N137I|CAMK1G_uc001hhe.3_Missense_Mutation_p.N137I NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA. 137 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CTACATGAGAATGGCATCGTC 0.522000 46 39 0 0 1 0 0 LAPTM5 7805 broad.mit.edu 37 1 31214502 31214502 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:31214502C>T uc001bsc.2 - 2 334 c.243G>A c.(241-243)ctG>ctA p.L81L MIR4420_uc021okj.1_5'Flank NM_006762 NP_006753 Q13571 LAPM5_HUMAN Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA. 81 transport integral to plasma membrane|lysosomal membrane large_intestine(2)|lung(7)|skin(1) 10 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) CTACGCCGATCAGTAGGCTCA 0.612000 6 4 0 0 1 0 0 PPIAL4E 730262 broad.mit.edu 37 1 148644424 148644424 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:148644424C>T uc010paz.2 + 0 414 c.339C>T c.(337-339)ttC>ttT p.F113F NM_001144032 NP_001137504 F5H284 F5H284_HUMAN Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4E (PPIAL4E), mRNA. 113 protein folding peptidyl-prolyl cis-trans isomerase activity CCCAGTTTTTCATCTGTGCTG 0.483000 41 27 0 0 1 0 0 GPR19 2842 broad.mit.edu 37 12 12815066 12815066 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:12815066G>A uc001rar.3 - 1 510 c.317C>T c.(316-318)tCc>tTc p.S106F GPR19_uc001raq.2_Missense_Mutation_p.S106F|GPR19_uc021qvj.1_Missense_Mutation_p.S106F NM_006143 NP_006134 Q15760 GPR19_HUMAN Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA. 106 integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) ACATGCCATGGAGACCACAAA 0.522000 29 18 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13776681 13776681 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:13776681C>T uc003jfd.2 - 54 9282 c.9240G>A c.(9238-9240)caG>caA p.Q3080Q NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3080 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R3079*(1) 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) TATGAAGGTTCTGTCGGACCC 0.468000 Kartagener syndrome 32 24 0 0 1 0 0 OR1E2 8388 broad.mit.edu 37 17 3336434 3336434 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:3336434G>A uc010vre.2 - 0 702 c.702C>T c.(700-702)atC>atT p.I234I NM_003554 NP_003545 P47887 OR1E2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA. 234 sensory perception of smell integral to plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3) 9 GGACCTTGAGGATGGAGGAGA 0.478000 25 10 0 0 1 0 0 PPAP2B 8613 broad.mit.edu 37 1 56977713 56977713 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:56977713G>A uc001cyj.2 - 4 1313 c.745C>T c.(745-747)Cac>Tac p.H249Y NM_003713 NP_003704 O14495 LPP3_HUMAN Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA. 249 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process Golgi apparatus|adherens junction|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 TGGTGCTTGTGGTCTGATACG 0.572000 52 37 0 0 1 0 0 CCDC19 25790 broad.mit.edu 37 1 159857785 159857785 + Missense_Mutation SNP C T T rs140567807 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr1:159857785C>T uc001fui.3 - 4 452 c.434G>A c.(433-435)cGa>cAa p.R145Q CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R60Q|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.R145Q NM_012337 NP_036469 Q9UL16 CCD19_HUMAN Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA. 145 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) GATCTTCTTTCGTGTCATCAC 0.552000 56 32 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589695 140589695 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140589695G>A uc003liz.3 + 0 1405 c.1216G>A c.(1216-1218)Gag>Aag p.E406K PCDHB12_uc011dak.2_Missense_Mutation_p.E69K NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 406 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTGGAAACAGAGAGACCGCT 0.498000 44 14 0 0 1 0 0 C16orf80 29105 broad.mit.edu 37 16 58149201 58149201 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr16:58149201G>A uc002enb.1 - 3 714 c.437C>T c.(436-438)aCc>aTc p.T146I C16orf80_uc021tje.1_Missense_Mutation_p.T146I NM_013242 NP_037374 Q9Y6A4 CP080_HUMAN Homo sapiens chromosome 16 open reading frame 80 (C16orf80), mRNA. 146 multicellular organismal development kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 GATGTAATTGGTGCCGTATGC 0.552000 103 58 0 0 1 0 0 FRRS1L 23732 broad.mit.edu 37 9 111903822 111903822 + Silent SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr9:111903822G>A uc004bdw.1 - 3 663 c.663C>T c.(661-663)gtC>gtT p.V221V NM_014334 NP_055149 Q9P0K9 CI004_HUMAN Homo sapiens chromosome 9 open reading frame 4 (C9orf4), mRNA. 221 DOMON. integral to membrane GCTGTATGCGGACCCTGCCAT 0.448000 39 20 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179499494 179499494 + Missense_Mutation SNP T A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr2:179499494T>A uc021vsy.1 - 177 34628 c.34403A>T c.(34402-34404)tAc>tTc p.Y11468F MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Y5163F|TTN_uc021vta.1_Missense_Mutation_p.Y5096F|TTN_uc021vtb.1_Missense_Mutation_p.Y4971F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 12395 Glu-rich.|Pro-rich. 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) AAGGGCCTGGTAGAGGACTTC 0.413000 55 46 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544019 82544019 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:82544019G>A uc003uhx.2 - 6 13572 c.13283C>T c.(13282-13284)gCc>gTc p.A4428V PCLO_uc003uhv.2_Missense_Mutation_p.A4428V|PCLO_uc010lec.3_Missense_Mutation_p.A1393V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4359 PDZ. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.A4428S(1) 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 GTCTGACATGGCATGTTGGAA 0.438000 17 5 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157909 26157909 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chrX:26157909C>T uc022bub.1 + 0 807 c.807C>T c.(805-807)ttC>ttT p.F269F MAGEB18_uc004dbq.2_Silent_p.F269F NM_173699 NP_775970 Q96M61 MAGBI_HUMAN Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA. 269 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 GCTATGAATTCCTGTGGGGTC 0.502000 6 10 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140755762 140755762 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:140755762C>T uc003ljy.2 + 0 2112 c.2112C>T c.(2110-2112)ttC>ttT p.F704F 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_uc011dau.2_Silent_p.F704F NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 705 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) CCTGCGTCTTCCTGGCCTTCG 0.667000 57 23 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124190000 124190000 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr11:124190000G>A uc010sah.2 - 0 94 c.94C>T c.(94-96)Ctt>Ttt p.L32F NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 32 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) TATATTCCAAGGAACAGGAGG 0.458000 53 42 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103206742 103206742 + Missense_Mutation SNP C T T rs114306581 by1000genomes TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:103206742C>T uc022ajr.1 - 32 5025 c.4865G>A c.(4864-4866)cGa>cAa p.R1622Q RELN_uc022ajq.1_Missense_Mutation_p.R1622Q|RELN_uc010liz.3_Missense_Mutation_p.R1622Q NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 1622 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCCTTGGATTCGATACCAGTT 0.378000 42 29 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086771 39086771 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr21:39086771G>A uc011aej.1 - 2 742 c.689C>T c.(688-690)tCc>tTc p.S230F KCNJ6_uc002ywo.2_Missense_Mutation_p.S230F NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 230 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) CACAATGTGGGAATTCCTAAG 0.532000 42 17 0 0 1 0 0 RPSAP52 204010 broad.mit.edu 37 12 66152432 66152432 + Missense_Mutation SNP C A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr12:66152432C>A uc001sso.3 - 1 512 c.91G>T c.(91-93)Ggg>Tgg p.G31W Homo sapiens ribosomal protein SA pseudogene 52 (RPSAP52), non-coding RNA. CCGTGGCTCCCAGTAGGCTGC 0.547000 18 7 0.000274275 0.000274941 1 1 0 VASH1 22846 broad.mit.edu 37 14 77242369 77242369 + Missense_Mutation SNP G A A TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr14:77242369G>A uc001xst.2 + 4 1595 c.665G>A c.(664-666)cGg>cAg p.R222Q NM_014909 NP_055724 Q7L8A9 VASH1_HUMAN Homo sapiens vasohibin 1 (VASH1), mRNA. 222 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) GGCATGAGTCGGCGCGAGGAC 0.647000 7 6 0 0 1 0 0 AP5Z1 9907 broad.mit.edu 37 7 4821370 4821370 + Silent SNP C T T TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:4821370C>T uc003sne.3 + 2 436 c.351C>T c.(349-351)tcC>tcT p.S117S AP5Z1_uc010ksp.3_Non-coding_Transcript NM_014855 NP_055670 O43299 K0415_HUMAN Homo sapiens KIAA0415 (KIAA0415), mRNA. 117 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding TGGTGGCCTCCGTTCTCTTGG 0.662000 24 7 0 0 1 0 0 SLC35D3 340146 broad.mit.edu 37 6 137243771 137243771 + Missense_Mutation SNP C G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr6:137243771C>G uc003qhe.3 + 0 370 c.205C>G c.(205-207)Ccc>Gcc p.P69A NM_001008783 NP_001008783 Q5M8T2 S35D3_HUMAN Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA. 69 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) CGCCGTGCCCCCCTTCGGTCT 0.716000 3 3 0 0 1 0 0 GNAT1 2779 broad.mit.edu 37 3 50229182 50229188 + Frame_Shift_Del DEL GGAGAAG - - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr3:50229182_50229188delGGAGAAG uc003cym.2 + 0 140_146 c.24_30delGGAGAAG c.(22-30)gaggagaagfs p.E8fs GNAT1_uc003cyl.2_Frame_Shift_Del_p.E8fs NM_144499 NP_653082 P11488 GNAT1_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 (GNAT1), transcript variant 1, mRNA. 8 G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|acyl binding|protein kinase binding|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CCAGTGCTGAGGAGAAGCACTCCAGGG 0.623 --- 38 --- --- 7 --- CNOT6L 246175 broad.mit.edu 37 4 78697453 78697453 + Frame_Shift_Del DEL T - - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr4:78697453delT uc011ccd.2 - 1 230 c.99delA c.(97-99)aaafs p.K33fs CNOT6L_uc003hks.3_Frame_Shift_Del_p.K33fs|CNOT6L_uc011cce.1_Frame_Shift_Del_p.K33fs NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA. 33 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 CCCAGTGAGATTTTTTCCCAT 0.373 --- 133 --- --- 80 --- C5orf42 65250 broad.mit.edu 37 5 37170213 37170222 + Frame_Shift_Del DEL GGCTCTCTGG - - rs141413425 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:37170213_37170222delGGCTCTCTGG uc011cpa.1 - 32 6614_6623 c.6383_6392delCCAGAGAGCC c.(6382-6393)gccagagagcctfs p.A2128fs C5orf42_uc011coy.1_Frame_Shift_Del_p.A628fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Del_p.A1203fs|C5orf42_uc003jkr.1_Frame_Shift_Del_p.A161fs NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 2128 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GTTCTTGCGAGGCTCTCTGGCGTTCTCTCC 0.410 --- 144 --- --- 41 --- LCP2 3937 broad.mit.edu 37 5 169695439 169695439 + Frame_Shift_Del DEL G - - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr5:169695439delG uc003man.1 - 7 778 c.571delC c.(571-573)cagfs p.Q191fs LCP2_uc011des.1_5'Flank|LCP2_uc011det.1_Frame_Shift_Del_p.Q20fs|LCP2_uc010jjo.1_5'UTR NM_005565 NP_005556 Q13094 LCP2_HUMAN Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA. 191 T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) ATCGGTCTCTGGGGGGGCACA 0.607 OREG0017023 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) --- 4 --- --- 2 --- RBM33 155435 broad.mit.edu 37 7 155503962 155503970 + In_Frame_Del DEL GCAGCCGCT - - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr7:155503962_155503970delGCAGCCGCT uc010lqk.1 + 7 1382_1390 c.1014_1022delGCAGCCGCT c.(1012-1023)ccgcagccgctg>ccg p.QPL342del RBM33_uc011kvv.1_In_Frame_Del_p.QPL151del NM_053043 NP_444271 Q96EV2 RBM33_HUMAN Homo sapiens RNA binding motif protein 33 (RBM33), mRNA. 342 Pro-rich. RNA binding|nucleotide binding p.P340P(2) breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) TGTTCCAGCCGCAGCCGCTGCAGCCGCTG 0.646 --- 45 --- --- 10 --- PTEN 5728 broad.mit.edu 37 10 89692885 89692886 + Frame_Shift_Ins INS - TG TG rs121909223 TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr10:89692885_89692886insTG uc001kfb.3 + 4 1401_1402 c.369_370insTG c.(367-372)cactgtfs p.H123fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 123 Phosphatase tensin-type. H -> R (in CD).|H -> Y (in endometrial cancer; loss of protein phosphatase activity). 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.0?(37)|p.C124S(10)|p.C124fs*10(6)|p.?(5)|p.H123Y(5)|p.R55fs*1(5)|p.I122fs*2(3)|p.A121_F145del(2)|p.Y27fs*1(2)|p.C124R(2)|p.Y27_N212>Y(2)|p.C124F(1)|p.H123D(1)|p.I122N(1)|p.I122S(1)|p.I122V(1)|p.F56fs*2(1)|p.C124Y(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) CAGCAATTCACTGTAAAGCTGG 0.406 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) --- 141 --- --- 95 --- C17orf85 55421 broad.mit.edu 37 17 3717754 3717754 + Frame_Shift_Del DEL T - - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:3717754delT uc010ckl.1 - 11 1512 c.1489delA c.(1489-1491)agafs p.R497fs C17orf85_uc002fwr.2_Frame_Shift_Del_p.R207fs|C17orf85_uc002fwq.2_Frame_Shift_Del_p.R217fs NM_001114118 NP_061023 Q53F19 CQ085_HUMAN Homo sapiens chromosome 17 open reading frame 85 (C17orf85), mRNA. 497 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) GAATGTGGTCTTTTTCCTAAC 0.507 --- 20 --- --- 15 --- FLCN 201163 broad.mit.edu 37 17 17127428 17127428 + Frame_Shift_Del DEL G - - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:17127428delG uc002gra.4 - 5 930 c.426delC c.(424-426)ttcfs p.F142fs PLD6_uc010cpn.3_Intron|FLCN_uc002grb.4_Frame_Shift_Del_p.F142fs NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN Homo sapiens folliculin (FLCN), transcript variant 1, mRNA. 142 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 CATCTCCGAAGAAGATGGGGC 0.572 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dubé syndrome --- 3 --- --- 3 --- CPD 1362 broad.mit.edu 37 17 28706062 28706064 + In_Frame_Del DEL CTG - - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:28706062_28706064delCTG uc002hfb.2 + 0 121_123 c.64_66delCTG c.(64-66)ctgdel p.L25del CPD_uc010wbo.2_5'Flank|CPD_uc010wbp.2_5'Flank NM_001304 NP_001295 O75976 CBPD_HUMAN Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA. 25 proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 GCTCATGTGCCTGCTGCTGCTGG 0.729 --- 4 --- --- 2 --- DUSP3 1845 broad.mit.edu 37 17 41852248 41852248 + Frame_Shift_Del DEL C - - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr17:41852248delC uc002ied.4 - 1 260 c.184delG c.(184-186)gcgfs p.A62fs DUSP3_uc021tya.1_Non-coding_Transcript|DUSP3_uc002iee.4_Frame_Shift_Del_p.A62fs NM_004090 NP_004081 P51452 DUS3_HUMAN Homo sapiens dual specificity phosphatase 3 (DUSP3), mRNA. 62 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|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 cytosol|immunological synapse|nucleoplasm MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 7 Breast(137;0.00725) BRCA - Breast invasive adenocarcinoma(366;0.116) CCCTCAGCCGCGTTCAGCACA 0.547 --- 115 --- --- 56 --- GLTSCR2 29997 broad.mit.edu 37 19 48254316 48254316 + Frame_Shift_Del DEL C - - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr19:48254316delC uc002phm.2 + 3 574 c.550delC c.(550-552)cccfs p.P184fs GLTSCR2_uc010elk.1_5'Flank NM_015710 NP_056525 Q9NZM5 GSCR2_HUMAN Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA. 184 RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413). nucleolus central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 15 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) CAAGCCCGGGCCCCAGGACAC 0.657 --- 4 --- --- 2 --- ATRN 8455 broad.mit.edu 37 20 3526472 3526473 + Frame_Shift_Ins INS - G G TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr20:3526472_3526473insG uc002wim.2 + 3 762_763 c.672_673insG c.(670-675)ggttatfs p.G224fs ATRN_uc002wil.2_Frame_Shift_Ins_p.G224fs|ATRN_uc021vzz.1_Frame_Shift_Ins_p.G108fs NM_139321 NP_647537 O75882 ATRN_HUMAN Homo sapiens attractin (ATRN), transcript variant 1, mRNA. 224 CUB. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 CCACATCAGGTTATGCCTTGCT 0.381 --- 50 --- --- 25 --- MAPK8IP2 23542 broad.mit.edu 37 22 51041769 51041771 + In_Frame_Del DEL GAG - - TCGA-IH-A3EA-01A-11D-A20D-08 TCGA-IH-A3EA-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 620f8719-e0fd-4f5d-a9a0-69f5938732d6 a122f996-7097-4023-8516-c59ba7b2fac9 g.chr22:51041769_51041771delGAG uc003bmx.3 + 2 406_408 c.289_291delGAG c.(289-291)gagdel p.E103del MAPK8IP2_uc003bmy.3_In_Frame_Del_p.E76del|MAPK8IP2_uc011asc.2_5'Flank NM_012324 NP_036456 Q13387 JIP2_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA. 103 Asp/Glu-rich (acidic). MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding p.E97delE(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ggacgaggaagaggaggaggagg 0.631 --- 3 --- --- 3 ---